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:0030875	HP:0030875	Abnormality of pulmonary circulation	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy		415
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome		94
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type		208
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia		178
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2		178
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	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:0030875	HP:0030875	Abnormality of pulmonary circulation	0	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome		1
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome		54
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome		147
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1		147
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	ATP13A3 CL E G H	79572	24113	OMIM:265400	Pulmonary hypertension, primary, autosomal recessive
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	ATP5F1A CL E G H	498	823	OMIM:616045	Combined oxidative phosphorylation deficiency 22
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1		525
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	BMPR2 CL E G H	659	1078	OMIM:265450	PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1		525
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2		1
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease		1
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities		51
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome		51
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis		11
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	CAV1 CL E G H	857	1527	ORPHA:220402	Limited cutaneous systemic sclerosis		11
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	CAV1 CL E G H	857	1527	OMIM:615343	Pulmonary hypertension, primary, 3		11
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria		242
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	CCN2 CL E G H	1490	2500	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	CCR6 CL E G H	1235	1607	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy		9
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type		5
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type		5
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis		102
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG		52
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III		373
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III		243
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes		90
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7		10
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2		6
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15		1
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder		20
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome		9
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome		18
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis		40
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2		40
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia		186
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy		151
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome		4
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease		1
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	F13A1 CL E G H	2162	3531	OMIM:188050	Thrombophiliavenous thromboembolism, included		60
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	F2 CL E G H	2147	3535	OMIM:188050	Thrombophiliavenous thromboembolism, included		44
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	F8 CL E G H	2157	3546	OMIM:301071	THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT; THPH13		303
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease		59
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2		1361
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis		172
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans		145
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome		493
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy		197
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia		61
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome		184
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type		87
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	GATA6 CL E G H	2627	4174	OMIM:614475	Atrial septal defect 9		37
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type		37
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia		8
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3		68
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	GNAQ CL E G H	2776	4390	ORPHA:624	Familial multiple nevi flammei		7
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome		7
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	HABP2 CL E G H	3026	4798	OMIM:188050	Thrombophiliavenous thromboembolism, included		58
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia		580
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease		4
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis		4
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis		2
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:220402	Limited cutaneous systemic sclerosis		2
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1		2
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease		60
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease		2
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis		31
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease		1
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis		4
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	IRF5 CL E G H	3663	6120	ORPHA:220402	Limited cutaneous systemic sclerosis		4
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis		57
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera		57
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	KCNJ5 CL E G H	3762	6266	OMIM:613485	Long QT syndrome 13		128
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	KCNK3 CL E G H	3777	6278	OMIM:615344	Pulmonary hypertension, primary, 4		7
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis		3
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	KIAA0319L CL E G H	79932	30071	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis		196
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial		19
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy		411
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes		92
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency		21
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome		645
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease		281
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome		33
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis		97
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera		97
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	MTHFR CL E G H	4524	7436	OMIM:188050	Thrombophiliavenous thromboembolism, included		183
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic		133
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	MYBPC3 CL E G H	4607	7551	OMIM:615396	Left ventricular noncompaction 10		1143
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2		418
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type		452
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S		1269
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome		5
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy		217
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome		1952
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome		40
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome		51
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type		90
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome		187
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome		452
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5		452
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type		1
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2		40
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis		36
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria		46
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	PLP1 CL E G H	5354	9086	ORPHA:99015	Spastic paraplegia type 2		60
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	PPCS CL E G H	79717	25686	OMIM:618189	Cardiomyopathy, dilated, 2C
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	PROC CL E G H	5624	9451	ORPHA:745	Severe hereditary thrombophilia due to congenital protein C deficiency		65
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive		65
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	PROC CL E G H	5624	9451	OMIM:176860	Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant		65
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	PROS1 CL E G H	5627	9456	ORPHA:743	Severe hereditary thrombophilia due to congenital protein S deficiency		75
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive		75
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	PROS1 CL E G H	5627	9456	OMIM:612336	Thrombophilia, hereditary, due to protein S deficiency, autosomal		75
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome		948
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome		3
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome		60
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1		77
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	SERPINC1 CL E G H	462	775	OMIM:613118	Antithrombin III deficiency		88
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency		88
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	SFTPA2 CL E G H	729238	10799	OMIM:178500	Pulmonary fibrosis, idiopathic		10
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	SFTPB CL E G H	6439	10801	ORPHA:217563	Neonatal acute respiratory distress due to SP-B deficiency		51
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1		51
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	SFTPC CL E G H	6440	10802	OMIM:178500	Pulmonary fibrosis, idiopathic		33
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2		33
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis		7
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib		110
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic		110
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis		109
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia		504
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	SMAD9 CL E G H	4093	6774	OMIM:615342	Pulmonary hypertension, primary, 2		132
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis		2
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease		2
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type		20
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome		55
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis		82
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	TERT CL E G H	7015	11730	OMIM:178500	Pulmonary fibrosis, idiopathic		238
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera		3
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	THBD CL E G H	7056	11784	OMIM:614486	Thrombophilia due to thrombomodulin defect		60
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis		23
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type		6
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type		6
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease		3
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis		44
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy		180
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy		248
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15		248
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2		490
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders		1
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome		83
HP:0030875	HP:0030875	Abnormality of pulmonary circulation	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0030875	HP:0031225	Intrapulmonary shunt	1	CL E G H
HP:0030875	HP:0030893	Abnormal response to short acting pulmonary vasodilator	1	CL E G H
HP:0030875	HP:0030876	Increased pulmonary capillary wedge pressure	1	CL E G H
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy		415
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome		94
HP:0030875	HP:0005317	Increased pulmonary vascular resistance	1	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	208
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type		208
HP:0030875	HP:0002204	Pulmonary embolism	1	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	178
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia		178
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2		178
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	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:0030875	HP:0002204	Pulmonary embolism	1	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome	HP:0040282 - Frequent	1
HP:0030875	HP:0002204	Pulmonary embolism	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040282 - Frequent	54
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome		147
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1		147
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	ATP13A3 CL E G H	79572	24113	OMIM:265400	Pulmonary hypertension, primary, autosomal recessive
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	ATP5F1A CL E G H	498	823	OMIM:616045	Combined oxidative phosphorylation deficiency 22
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0030875	HP:0005317	Increased pulmonary vascular resistance	1	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1		525
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1		525
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	BMPR2 CL E G H	659	1078	OMIM:265450	PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1		525
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2		1
HP:0030875	HP:0002204	Pulmonary embolism	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities		51
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome		51
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis		11
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	CAV1 CL E G H	857	1527	ORPHA:220402	Limited cutaneous systemic sclerosis		11
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	CAV1 CL E G H	857	1527	OMIM:615343	Pulmonary hypertension, primary, 3	.	11
HP:0030875	HP:0005317	Increased pulmonary vascular resistance	1	CAV1 CL E G H	857	1527	OMIM:615343	Pulmonary hypertension, primary, 3	.	11
HP:0030875	HP:0002204	Pulmonary embolism	1	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria	HP:0040282 - Frequent	242
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	CCN2 CL E G H	1490	2500	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0030875	HP:0002204	Pulmonary embolism	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	CCR6 CL E G H	1235	1607	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0030875	HP:0002204	Pulmonary embolism	1	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy	.	9
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type		5
HP:0030875	HP:0005317	Increased pulmonary vascular resistance	1	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	5
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type		5
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis		102
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG		52
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III		373
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III		243
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes		90
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7		10
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2		6
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15		1
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder		20
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome		9
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome		18
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis	HP:0040282 - Frequent	40
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2		40
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia		186
HP:0030875	HP:0002204	Pulmonary embolism	1	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	186
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy		151
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome		4
HP:0030875	HP:0002204	Pulmonary embolism	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0030875	HP:0002204	Pulmonary embolism	1	F13A1 CL E G H	2162	3531	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	60
HP:0030875	HP:0002204	Pulmonary embolism	1	F2 CL E G H	2147	3535	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	44
HP:0030875	HP:0002204	Pulmonary embolism	1	F8 CL E G H	2157	3546	OMIM:301071	THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT; THPH13		303
HP:0030875	HP:0002204	Pulmonary embolism	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional	59
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2		1361
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis		172
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans		145
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome		493
HP:0030875	HP:0030950	Pulmonary venous hypertension	1	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent	197
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia		61
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome		184
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type		87
HP:0030875	HP:0005317	Increased pulmonary vascular resistance	1	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	87
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	GATA6 CL E G H	2627	4174	OMIM:614475	Atrial septal defect 9		37
HP:0030875	HP:0005317	Increased pulmonary vascular resistance	1	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	37
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type		37
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia		8
HP:0030875	HP:0002204	Pulmonary embolism	1	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	8
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3		68
HP:0030875	HP:0002204	Pulmonary embolism	1	GNAQ CL E G H	2776	4390	ORPHA:624	Familial multiple nevi flammei	HP:0040283 - Occasional	7
HP:0030875	HP:0002204	Pulmonary embolism	1	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome	HP:0040283 - Occasional	7
HP:0030875	HP:0002204	Pulmonary embolism	1	HABP2 CL E G H	3026	4798	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	58
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia		580
HP:0030875	HP:0002204	Pulmonary embolism	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional	4
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis		4
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis		2
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:220402	Limited cutaneous systemic sclerosis		2
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1		2
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0030875	HP:0002204	Pulmonary embolism	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional	60
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0030875	HP:0002204	Pulmonary embolism	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0030875	HP:0002204	Pulmonary embolism	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0030875	HP:0002204	Pulmonary embolism	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis		31
HP:0030875	HP:0002204	Pulmonary embolism	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis		4
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	IRF5 CL E G H	3663	6120	ORPHA:220402	Limited cutaneous systemic sclerosis		4
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis		57
HP:0030875	HP:0002204	Pulmonary embolism	1	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	57
HP:0030875	HP:0002204	Pulmonary embolism	1	KCNJ5 CL E G H	3762	6266	OMIM:613485	Long QT syndrome 13	.	128
HP:0030875	HP:0005317	Increased pulmonary vascular resistance	1	KCNK3 CL E G H	3777	6278	OMIM:615344	Pulmonary hypertension, primary, 4	.	7
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	KCNK3 CL E G H	3777	6278	OMIM:615344	Pulmonary hypertension, primary, 4	.	7
HP:0030875	HP:0030950	Pulmonary venous hypertension	1	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040284 - Very rare	3
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	KIAA0319L CL E G H	79932	30071	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0030875	HP:0030950	Pulmonary venous hypertension	1	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent
HP:0030875	HP:0002204	Pulmonary embolism	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis		196
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial		19
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy		411
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes		92
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency		21
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome		645
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0030875	HP:0002204	Pulmonary embolism	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional	281
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome		33
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0030875	HP:0002204	Pulmonary embolism	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040284 - Very rare	101
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis		97
HP:0030875	HP:0002204	Pulmonary embolism	1	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	97
HP:0030875	HP:0002204	Pulmonary embolism	1	MTHFR CL E G H	4524	7436	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	183
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic		133
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	MYBPC3 CL E G H	4607	7551	OMIM:615396	Left ventricular noncompaction 10		1143
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2		418
HP:0030875	HP:0005317	Increased pulmonary vascular resistance	1	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	452
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type		452
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S		1269
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome		5
HP:0030875	HP:0030950	Pulmonary venous hypertension	1	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent	217
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome		1952
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome		40
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome		51
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type		90
HP:0030875	HP:0005317	Increased pulmonary vascular resistance	1	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	90
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome		187
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome		452
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5		452
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type		1
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2		40
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0030875	HP:0030950	Pulmonary venous hypertension	1	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040284 - Very rare	36
HP:0030875	HP:0002204	Pulmonary embolism	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040283 - Occasional	46
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0030875	HP:0002204	Pulmonary embolism	1	PLP1 CL E G H	5354	9086	ORPHA:99015	Spastic paraplegia type 2	HP:0040283 - Occasional	60
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	PPCS CL E G H	79717	25686	OMIM:618189	Cardiomyopathy, dilated, 2C
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0030875	HP:0002204	Pulmonary embolism	1	PROC CL E G H	5624	9451	ORPHA:745	Severe hereditary thrombophilia due to congenital protein C deficiency	HP:0040283 - Occasional	65
HP:0030875	HP:0002204	Pulmonary embolism	1	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive	.	65
HP:0030875	HP:0002204	Pulmonary embolism	1	PROC CL E G H	5624	9451	OMIM:176860	Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant	.	65
HP:0030875	HP:0002204	Pulmonary embolism	1	PROS1 CL E G H	5627	9456	ORPHA:743	Severe hereditary thrombophilia due to congenital protein S deficiency	HP:0040283 - Occasional	75
HP:0030875	HP:0002204	Pulmonary embolism	1	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive	.	75
HP:0030875	HP:0002204	Pulmonary embolism	1	PROS1 CL E G H	5627	9456	OMIM:612336	Thrombophilia, hereditary, due to protein S deficiency, autosomal	.	75
HP:0030875	HP:0002204	Pulmonary embolism	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040282 - Frequent	948
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome		3
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome		60
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1		77
HP:0030875	HP:0002204	Pulmonary embolism	1	SERPINC1 CL E G H	462	775	OMIM:613118	Antithrombin III deficiency	.	88
HP:0030875	HP:0002204	Pulmonary embolism	1	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency	HP:0040282 - Frequent	88
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	SFTPA2 CL E G H	729238	10799	OMIM:178500	Pulmonary fibrosis, idiopathic		10
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	SFTPB CL E G H	6439	10801	ORPHA:217563	Neonatal acute respiratory distress due to SP-B deficiency		51
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1		51
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	SFTPC CL E G H	6440	10802	OMIM:178500	Pulmonary fibrosis, idiopathic		33
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2		33
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0030875	HP:0005317	Increased pulmonary vascular resistance	1	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040282 - Frequent	7
HP:0030875	HP:0030950	Pulmonary venous hypertension	1	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:0030875	HP:0004890	Elevated pulmonary artery pressure	1	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic		110
HP:0030875	HP:0030950	Pulmonary venous hypertension	1	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040284 - Very rare	109
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia		504
HP:0030875	HP:0002204	Pulmonary embolism	1	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	504
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	SMAD9 CL E G H	4093	6774	OMIM:615342	Pulmonary hypertension, primary, 2		132
HP:0030875	HP:0005317	Increased pulmonary vascular resistance	1	SMAD9 CL E G H	4093	6774	OMIM:615342	Pulmonary hypertension, primary, 2	.	132
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis		2
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0030875	HP:0002204	Pulmonary embolism	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type		20
HP:0030875	HP:0005317	Increased pulmonary vascular resistance	1	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	20
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome		55
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis		82
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	TERT CL E G H	7015	11730	OMIM:178500	Pulmonary fibrosis, idiopathic		238
HP:0030875	HP:0002204	Pulmonary embolism	1	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	3
HP:0030875	HP:0002204	Pulmonary embolism	1	THBD CL E G H	7056	11784	OMIM:614486	Thrombophilia due to thrombomodulin defect		60
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis		23
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type		6
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type		6
HP:0030875	HP:0005317	Increased pulmonary vascular resistance	1	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	6
HP:0030875	HP:0002204	Pulmonary embolism	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional	3
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis		44
HP:0030875	HP:0030950	Pulmonary venous hypertension	1	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent	180
HP:0030875	HP:0030950	Pulmonary venous hypertension	1	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent	248
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0030875	HP:0002204	Pulmonary embolism	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15		248
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2		490
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders		1
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome		83
HP:0030875	HP:0004890	Elevated pulmonary artery pressure	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0030875	HP:0033636	Combined pre- and post-capillary pulmonary hypertension	2	CL E G H
HP:0030875	HP:0030894	Insufficient response to short acting pulmonary vasodilator	2	CL E G H
HP:0030875	HP:0033635	Post-capillary pulmonary hypertension	2	CL E G H
HP:0030875	HP:0033426	Pulmonary air embolism	2	CL E G H
HP:0030875	HP:0033352	Pulmonary hypertensive crisis	2	CL E G H
HP:0030875	HP:0032008	Pulmonary fat embolism	2	CL E G H
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy		415
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome		94
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type		208
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia		178
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2		178
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	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:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome		147
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1		147
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	ATP13A3 CL E G H	79572	24113	OMIM:265400	Pulmonary hypertension, primary, autosomal recessive
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	ATP5F1A CL E G H	498	823	OMIM:616045	Combined oxidative phosphorylation deficiency 22
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1		525
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	BMPR2 CL E G H	659	1078	OMIM:265450	PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1		525
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2		1
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities		51
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome		51
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis		11
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	CAV1 CL E G H	857	1527	ORPHA:220402	Limited cutaneous systemic sclerosis		11
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	CAV1 CL E G H	857	1527	OMIM:615343	Pulmonary hypertension, primary, 3		11
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	CCN2 CL E G H	1490	2500	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	CCR6 CL E G H	1235	1607	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type		5
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type		5
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis		102
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG		52
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III		373
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III		243
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes		90
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7		10
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2		6
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15		1
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder		20
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome		9
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome		18
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2		40
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia		186
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy		151
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome		4
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2		1361
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis		172
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans		145
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome		493
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia		61
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome		184
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type		87
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	GATA6 CL E G H	2627	4174	OMIM:614475	Atrial septal defect 9		37
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type		37
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia		8
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3		68
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia		580
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis		4
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis		2
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:220402	Limited cutaneous systemic sclerosis		2
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1		2
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis		31
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis		4
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	IRF5 CL E G H	3663	6120	ORPHA:220402	Limited cutaneous systemic sclerosis		4
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis		57
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	KCNK3 CL E G H	3777	6278	OMIM:615344	Pulmonary hypertension, primary, 4		7
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	KIAA0319L CL E G H	79932	30071	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis		196
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial		19
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy		411
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes		92
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency		21
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome		645
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome		33
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis		97
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic		133
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	MYBPC3 CL E G H	4607	7551	OMIM:615396	Left ventricular noncompaction 10		1143
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type		452
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S		1269
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome		5
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome		1952
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome		40
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome		51
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type		90
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome		187
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome		452
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5		452
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type		1
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2		40
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	PPCS CL E G H	79717	25686	OMIM:618189	Cardiomyopathy, dilated, 2C
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome		3
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome		60
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1		77
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	SFTPA2 CL E G H	729238	10799	OMIM:178500	Pulmonary fibrosis, idiopathic		10
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	SFTPB CL E G H	6439	10801	ORPHA:217563	Neonatal acute respiratory distress due to SP-B deficiency		51
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1		51
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	SFTPC CL E G H	6440	10802	OMIM:178500	Pulmonary fibrosis, idiopathic		33
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2		33
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic		110
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia		504
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	SMAD9 CL E G H	4093	6774	OMIM:615342	Pulmonary hypertension, primary, 2		132
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis		2
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type		20
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome		55
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis		82
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	TERT CL E G H	7015	11730	OMIM:178500	Pulmonary fibrosis, idiopathic		238
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis		23
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type		6
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type		6
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis		44
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15		248
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2		490
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders		1
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome		83
HP:0030875	HP:0033578	Pre-capillary pulmonary hypertension	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040284 - Very rare	415
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type	HP:0040283 - Occasional	53
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome	.	94
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	208
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	178
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0030875	HP:0002092	Pulmonary arterial 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	HP:0040283 - Occasional	6
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	147
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1	.	147
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	ATP13A3 CL E G H	79572	24113	OMIM:265400	Pulmonary hypertension, primary, autosomal recessive	.
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	ATP5F1A CL E G H	498	823	OMIM:616045	Combined oxidative phosphorylation deficiency 22	.
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome	.	22
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1		525
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	BMPR2 CL E G H	659	1078	OMIM:265450	PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1		525
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2		1
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities	HP:0040283 - Occasional	51
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	HP:0040282 - Frequent	51
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040283 - Occasional	11
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	CAV1 CL E G H	857	1527	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040283 - Occasional	11
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	CAV1 CL E G H	857	1527	OMIM:615343	Pulmonary hypertension, primary, 3	.	11
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040283 - Occasional
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	CCN2 CL E G H	1490	2500	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040283 - Occasional
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040283 - Occasional
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	CCR6 CL E G H	1235	1607	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040283 - Occasional
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	5
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type	HP:0040283 - Occasional	5
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	102
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040282 - Frequent	52
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III	.	373
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III	.	243
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040284 - Very rare	90
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7		10
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2	HP:0040283 - Occasional	6
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15		1
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional	20
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	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:0030875	HP:0002092	Pulmonary arterial hypertension	3	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	9
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	18
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2		40
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	186
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040284 - Very rare	151
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	4
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2		1361
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent	172
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans	HP:0040283 - Occasional	145
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.	493
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia	HP:0040281 - Very frequent	61
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040283 - Occasional	184
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	.	37
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	87
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	GATA6 CL E G H	2627	4174	OMIM:614475	Atrial septal defect 9	HP:0040283 - Occasional	37
HP:0030875	HP:0002092	Pulmonary arterial hypertension	3	GATA6 CL