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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Pulmonary arterial hypertension
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Accession:HP:0002092 term browser browse the term
Definition:Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.
Comment:Pulmonary hypertension can be secondary to known cardiac, pulmonary, or hepatic disease. If no cause is identifiable, the term primary pulmonary hypertension is used.
Synonyms:exact_synonym: Increased blood pressure in blood vessels of lungs;   Pulmonary artery hypertension
 related_synonym: PRIMARY PULMONARY HYPERTENSION
 alt_id: HP:0006546
 xref: EFO:0001361;   SNOMEDCT_US:11399002;   SNOMEDCT_US:697898008;   SNOMEDCT_US:70995007;   UMLS:C0020542;   UMLS:C2973725;   UMLS:C3203102


show annotations for term's descendants           Sort by:
Pulmonary arterial hypertension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:15976379 PMID:17597647 PMID:18246475 PMID:18317237 PMID:18603241 More... NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746 		JBrowse link
G ABCC6 ATP binding cassette subfamily C member 6 IAGP HPO ORPHA:51608 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522 		JBrowse link
G ABCC8 ATP binding cassette subfamily C member 8 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25117148 PMID:25741868 NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894 		JBrowse link
G ABCD4 ATP binding cassette subfamily D member 4 IAGP HPO MIM:614857 NCBI chr14:74,285,269...74,302,934
Ensembl chr14:74,285,269...74,303,055 		JBrowse link
G ABI2 abl interactor 2 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar Annotator: match by term: Primary pulmonary hypertension		 ClinVar PMID:28492532 PMID:31727138 PMID:32581362 NCBI chr 2:203,328,394...203,432,169
Ensembl chr 2:203,328,280...203,447,728 		JBrowse link
G ACADL acyl-CoA dehydrogenase long chain IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:210,187,923...210,225,447
Ensembl chr 2:210,187,126...210,225,447 		JBrowse link
G ACTA2 actin alpha 2, smooth muscle IAGP HPO MIM:613834 NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,934,822...88,991,339 		JBrowse link
G ACTC1 actin alpha cardiac muscle 1 IAGP HPO ORPHA:99103 NCBI chr15:34,790,230...34,795,549
Ensembl chr15:34,790,107...34,795,589 		JBrowse link
G ACVRL1 activin A receptor like type 1 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar
HPO		 PMID:11484689 PMID:15024723 PMID:15517393 PMID:15687131 PMID:16429404 More... MIM:600376 ORPHA:774 NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361 		JBrowse link
G ADAM23 ADAM metallopeptidase domain 23 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:206,443,532...206,621,127
Ensembl chr 2:206,443,532...206,621,127 		JBrowse link
G ADAMTSL2 ADAMTS like 2 IAGP HPO MIM:231050 NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519 		JBrowse link
G AFF4 ALF transcription elongation factor 4 IAGP HPO ORPHA:444077 NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634 		JBrowse link
G AGK acylglycerol kinase IAGP HPO MIM:212350 NCBI chr 7:141,551,410...141,655,244
Ensembl chr 7:141,551,278...141,655,244 		JBrowse link
G AGR2 anterior gradient 2, protein disulphide isomerase family member IAGP HPO MIM:620233 NCBI chr 7:16,791,811...16,804,999
Ensembl chr 7:16,791,811...16,833,433 		JBrowse link
G AL162586.1 novel transcript IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 PMID:28492532 PMID:32581362 NCBI chr 9:127,816,066...127,822,520
Ensembl chr 9:127,816,066...127,822,520 		JBrowse link
G ALDH1A2 aldehyde dehydrogenase 1 family member A2 IAGP HPO MIM:620025 NCBI chr15:57,953,429...58,065,711
Ensembl chr15:57,953,424...58,497,866 		JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein IAGP HPO ORPHA:64 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166 		JBrowse link
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar Annotator: match by term: Primary pulmonary hypertension		 ClinVar PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074 More... NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112 		JBrowse link
G AOX1 aldehyde oxidase 1 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:200,586,014...200,682,241
Ensembl chr 2:200,586,014...200,677,064 		JBrowse link
G ARHGAP31 Rho GTPase activating protein 31 IAGP HPO MIM:100300 ORPHA:974 NCBI chr 3:119,294,383...119,420,714
Ensembl chr 3:119,294,383...119,420,714 		JBrowse link
G ARSB arylsulfatase B IAGP HPO MIM:253200 NCBI chr 5:78,777,209...78,985,958
Ensembl chr 5:78,777,209...78,986,087 		JBrowse link
G ATP13A3 ATPase 13A3 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar
HPO		 PMID:25741868 PMID:28492532 PMID:30679663 PMID:31727138 PMID:34493544 More... MIM:265400 NCBI chr 3:194,402,677...194,494,334
Ensembl chr 3:194,402,672...194,498,364 		JBrowse link
G ATP5F1A ATP synthase F1 subunit alpha IAGP HPO MIM:616045 NCBI chr18:46,080,248...46,104,227
Ensembl chr18:46,080,248...46,104,334 		JBrowse link
G BANF1 BAF nuclear assembly factor 1 IAGP HPO MIM:614008 NCBI chr11:66,002,079...66,004,149
Ensembl chr11:66,002,228...66,004,149 		JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:24121792 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31727138 NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825 		JBrowse link
G BMPR2 bone morphogenetic protein receptor type 2 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar Annotator: match by term: Primary pulmonary hypertension		 ClinVar
HPO		 PMID:3291115 PMID:9536098 PMID:10903931 PMID:10973254 PMID:11015450 More... MIM:178600 MIM:265450 NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751 		JBrowse link
G BTNL2 butyrophilin like 2 IAGP HPO MIM:612387 NCBI chr 6:32,393,339...32,407,181
Ensembl chr 6:32,393,339...32,407,181 		JBrowse link
G BZW1 basic leucine zipper and W2 domains 1 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:200,811,589...200,827,338
Ensembl chr 2:200,810,594...200,827,338 		JBrowse link
G C2CD6 C2 calcium dependent domain containing 6 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:201,487,421...201,619,178
Ensembl chr 2:201,487,421...201,619,178 		JBrowse link
G C2orf80 chromosome 2 open reading frame 80 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:208,165,347...208,190,030
Ensembl chr 2:208,165,343...208,190,030 		JBrowse link
G CA2 carbonic anhydrase 2 IAGP HPO ORPHA:2785 NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493 		JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP HPO MIM:601005 MIM:620029 NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950 		JBrowse link
G CACNA1D calcium voltage-gated channel subunit alpha1 D IAGP HPO MIM:615474 ORPHA:369929 NCBI chr 3:53,494,611...53,813,733
Ensembl chr 3:53,328,963...53,813,733 		JBrowse link
G CAPNS1 calpain small subunit 1 IAGP HPO MIM:620777 NCBI chr19:36,140,066...36,150,353
Ensembl chr19:36,139,953...36,150,353 		JBrowse link
G CARF calcium responsive transcription factor IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar Annotator: match by term: Primary pulmonary hypertension		 ClinVar PMID:28492532 PMID:31727138 PMID:32581362 NCBI chr 2:202,912,275...202,988,263
Ensembl chr 2:202,912,214...202,988,263 		JBrowse link
G CASP10 caspase 10 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428 		JBrowse link
G CASP8 caspase 8 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:201,233,463...201,287,711
Ensembl chr 2:201,233,443...201,361,836 		JBrowse link
G CAV1 caveolin 1 IAGP HPO MIM:606721 MIM:615343 ORPHA:220393 ORPHA:220402 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179 		JBrowse link
G CCN2 cellular communication network factor 2 IAGP HPO ORPHA:220393 ORPHA:220402 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372 		JBrowse link
G CCNYL1 cyclin Y like 1 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:207,711,640...207,756,174
Ensembl chr 2:207,711,540...207,761,839 		JBrowse link
G CCR6 C-C motif chemokine receptor 6 IAGP HPO ORPHA:220393 ORPHA:220402 NCBI chr 6:167,111,795...167,139,141
Ensembl chr 6:167,111,807...167,139,141 		JBrowse link
G CD28 CD28 molecule IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar Annotator: match by term: Primary pulmonary hypertension		 ClinVar PMID:28492532 PMID:31727138 PMID:32581362 NCBI chr 2:203,706,482...203,738,912
Ensembl chr 2:203,706,475...203,738,912 		JBrowse link
G CDK15 cyclin dependent kinase 15 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar Annotator: match by term: Primary pulmonary hypertension		 ClinVar PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074 More... NCBI chr 2:201,806,429...201,895,550
Ensembl chr 2:201,790,461...201,895,550 		JBrowse link
G CFLAR CASP8 and FADD like apoptosis regulator IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:201,116,164...201,176,687
Ensembl chr 2:201,116,154...201,176,687 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO MIM:143095 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 IAGP HPO ORPHA:99103 ORPHA:99105 NCBI chr 6:139,371,807...139,374,648
Ensembl chr 6:139,371,807...139,374,648 		JBrowse link
G CLCN7 chloride voltage-gated channel 7 IAGP HPO ORPHA:667 NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077 		JBrowse link
G CLK1 CDC like kinase 1 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:200,853,009...200,864,658
Ensembl chr 2:200,853,009...200,864,691 		JBrowse link
G CLXN calaxin IAGP HPO MIM:620642 NCBI chr 8:48,710,789...48,735,311
Ensembl chr 8:48,710,789...48,735,311 		JBrowse link
G CMKLR2 chemerin chemokine-like receptor 2 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:206,175,316...206,217,912
Ensembl chr 2:206,175,316...206,218,047 		JBrowse link
G COG1 component of oligomeric golgi complex 1 IAGP HPO ORPHA:263508 NCBI chr17:73,193,055...73,208,507
Ensembl chr17:73,193,055...73,208,507 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP HPO MIM:259420 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP HPO MIM:259420 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227 		JBrowse link
G COLQ collagen like tail subunit of asymmetric acetylcholinesterase IAGP HPO ORPHA:98915 NCBI chr 3:15,450,133...15,521,706
Ensembl chr 3:15,450,133...15,521,751 		JBrowse link
G COX5A cytochrome c oxidase subunit 5A IAGP HPO MIM:619064 NCBI chr15:74,919,791...74,938,073
Ensembl chr15:74,919,791...74,938,083 		JBrowse link
G COX6B1 cytochrome c oxidase subunit 6B1 IAGP HPO MIM:619051 NCBI chr19:35,648,323...35,658,782
Ensembl chr19:35,648,323...35,658,782 		JBrowse link
G COX7B cytochrome c oxidase subunit 7B IAGP HPO MIM:300887 NCBI chr  X:77,899,468...77,907,376
Ensembl chr  X:77,899,440...77,907,376 		JBrowse link
G COX8A cytochrome c oxidase subunit 8A IAGP HPO MIM:619059 NCBI chr11:63,974,620...63,976,543
Ensembl chr11:63,974,620...63,976,543 		JBrowse link
G CPO carboxypeptidase O IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:206,939,518...206,969,474
Ensembl chr 2:206,939,518...206,969,474 		JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:210,477,685...210,679,107
Ensembl chr 2:210,477,682...210,679,107 		JBrowse link
G CREB1 cAMP responsive element binding protein 1 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:207,529,962...207,605,988
Ensembl chr 2:207,529,737...207,605,988 		JBrowse link
G CRYGA crystallin gamma A IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:208,160,740...208,163,589
Ensembl chr 2:208,160,740...208,163,589 		JBrowse link
G CRYGB crystallin gamma B IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:208,142,573...208,146,158
Ensembl chr 2:208,142,573...208,146,158 		JBrowse link
G CRYGC crystallin gamma C IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:208,128,137...208,129,828
Ensembl chr 2:208,128,137...208,129,828 		JBrowse link
G CRYGD crystallin gamma D IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:208,121,607...208,124,524
Ensembl chr 2:208,121,607...208,124,524 		JBrowse link
G CTCF CCCTC-binding factor IAGP HPO ORPHA:363611 NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar Annotator: match by term: Primary pulmonary hypertension		 ClinVar PMID:28492532 PMID:31727138 PMID:32581362 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G CYP20A1 cytochrome P450 family 20 subfamily A member 1 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar Annotator: match by term: Primary pulmonary hypertension		 ClinVar PMID:28492532 PMID:31727138 PMID:32581362 NCBI chr 2:203,239,018...203,306,026
Ensembl chr 2:203,238,977...203,306,026 		JBrowse link
G DEF6 DEF6 guanine nucleotide exchange factor IAGP HPO MIM:619573 NCBI chr 6:35,297,818...35,321,771
Ensembl chr 6:35,297,818...35,321,771 		JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP HPO ORPHA:96334 NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224 		JBrowse link
G DLL4 delta like canonical Notch ligand 4 IAGP HPO ORPHA:974 NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073 		JBrowse link
G DOCK6 dedicator of cytokinesis 6 IAGP HPO ORPHA:974 NCBI chr19:11,199,295...11,262,524
Ensembl chr19:11,199,295...11,262,524 		JBrowse link
G DYTN dystrotelin IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:206,651,621...206,718,396
Ensembl chr 2:206,651,621...206,721,570 		JBrowse link
G EEF1B2 eukaryotic translation elongation factor 1 beta 2 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:206,159,609...206,162,928
Ensembl chr 2:206,159,585...206,162,928 		JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 IAGP HPO MIM:614437 NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,873,592 		JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar
HPO		 PMID:25741868 PMID:28492532 PMID:32581362 MIM:234810 NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591 		JBrowse link
G ENG endoglin IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar
HPO		 PMID:10625079 PMID:15517393 PMID:15521985 PMID:15879500 PMID:16705692 More... MIM:187300 ORPHA:774 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO ORPHA:51608 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G EOGT EGF domain specific O-linked N-acetylglucosamine transferase IAGP HPO ORPHA:974 NCBI chr 3:68,975,225...69,013,684
Ensembl chr 3:68,975,217...69,013,684 		JBrowse link
G ERI1 exoribonuclease 1 IAGP HPO MIM:620663 NCBI chr 8:9,002,897...9,100,104
Ensembl chr 8:9,002,147...9,116,746 		JBrowse link
G FAM117B family with sequence similarity 117 member B IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar Annotator: match by term: Primary pulmonary hypertension		 ClinVar PMID:28492532 PMID:31727138 PMID:32581362 NCBI chr 2:202,634,969...202,769,757
Ensembl chr 2:202,634,969...202,769,757 		JBrowse link
G FASTKD2 FAST kinase domains 2 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:206,765,606...206,796,189
Ensembl chr 2:206,765,357...206,796,189 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO MIM:614185 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:2396 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO MIM:616482 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO MIM:216340 ORPHA:3472 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G FLACC1 flagellum associated containing coiled-coil domains 1 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:201,288,271...201,364,289
Ensembl chr 2:201,288,271...201,357,398 		JBrowse link
G FLNA filamin A IAGP HPO MIM:309350 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FOXF1 forkhead box F1 IAGP HPO MIM:265380 ORPHA:210122 NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422 		JBrowse link
G FOXP1 forkhead box P1 IAGP HPO ORPHA:391372 NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978 		JBrowse link
G FZD5 frizzled class receptor 5 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:207,762,598...207,769,906
Ensembl chr 2:207,762,598...207,769,906 		JBrowse link
G FZD7 frizzled class receptor 7 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar Annotator: match by term: Primary pulmonary hypertension		 ClinVar PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074 More... NCBI chr 2:202,033,855...202,038,441
Ensembl chr 2:202,033,855...202,038,441 		JBrowse link
G G6PC3 glucose-6-phosphatase catalytic subunit 3 IAGP HPO MIM:612541 NCBI chr17:44,070,673...44,076,344
Ensembl chr17:44,070,620...44,082,151 		JBrowse link
G GATA4 GATA binding protein 4 IAGP HPO ORPHA:99103 NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002 		JBrowse link
G GATA6 GATA binding protein 6 IAGP HPO MIM:614475 ORPHA:99103 NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO MIM:230800 ORPHA:2072 ORPHA:77259 ORPHA:77261 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G GDF2 growth differentiation factor 2 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar
HPO		 PMID:25741868 PMID:26801773 PMID:28492532 PMID:31661308 PMID:31727138 ORPHA:774 NCBI chr10:47,322,454...47,327,588
Ensembl chr10:47,322,454...47,327,588 		JBrowse link
G GJB2 gap junction protein beta 2 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:17666888 PMID:25741868 PMID:30755392 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G HBB hemoglobin subunit beta IAGP HPO ORPHA:231222 ORPHA:232 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP HPO ORPHA:3287 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G HLA-DPB1 major histocompatibility complex, class II, DP beta 1 susceptibility IAGP DNA:polymorphisms:cds:HLA-DPB1*0202 RGD PMID:19165231 RGD:5143999 NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,936...33,089,696 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO MIM:181000 ORPHA:220393 ORPHA:220402 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 susceptibility IAGP DNA:SNP:intron: (rs846906) (human) RGD PMID:32453474 RGD:329902062 NCBI chr 1:209,686,179...209,734,929
Ensembl chr 1:209,686,178...209,734,949 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO ORPHA:800 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G HYCC2 hyccin PI4KA lipid kinase complex subunit 2 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:200,973,718...201,071,671
Ensembl chr 2:200,973,718...201,071,671 		JBrowse link
G HYDIN HYDIN axonemal central pair apparatus protein IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr16:70,802,084...71,230,722
Ensembl chr16:70,802,084...71,230,722 		JBrowse link
G ICA1L islet cell autoantigen 1 like IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar Annotator: match by term: Primary pulmonary hypertension		 ClinVar PMID:28492532 PMID:31727138 PMID:32581362 NCBI chr 2:202,773,176...202,871,766
Ensembl chr 2:202,773,150...202,871,766 		JBrowse link
G ICOS inducible T cell costimulator IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar Annotator: match by term: Primary pulmonary hypertension		 ClinVar PMID:28492532 PMID:31727138 PMID:32581362 NCBI chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074 		JBrowse link
G IDUA alpha-L-iduronidase IAGP HPO MIM:607015 NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564 		JBrowse link
G IFT56 intraflagellar transport 56 IAGP HPO MIM:619534 NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP HPO ORPHA:464 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046 		JBrowse link
G IL12B interleukin 12B IAGP HPO ORPHA:3287 NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863 		JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer IAGP HPO MIM:619751 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022 		JBrowse link
G INO80D INO80 complex subunit D IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:205,993,721...206,086,174
Ensembl chr 2:205,993,721...206,086,303 		JBrowse link
G IPO8 importin 8 IAGP HPO MIM:619472 NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869 		JBrowse link
G IRF5 interferon regulatory factor 5 IAGP HPO ORPHA:220393 ORPHA:220402 NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038 		JBrowse link
G JAK2 Janus kinase 2 IAGP HPO ORPHA:71493 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G KANSL1L KAT8 regulatory NSL complex subunit 1 like IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:210,021,421...210,172,760
Ensembl chr 2:210,021,421...210,171,409 		JBrowse link
G KCNA5 potassium voltage-gated channel subfamily A member 5 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr12:5,043,879...5,046,788
Ensembl chr12:5,043,879...5,046,788 		JBrowse link
G KCNK3 potassium two pore domain channel subfamily K member 3 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar
HPO		 PMID:32581362 MIM:615344 NCBI chr 2:26,692,722...26,733,420
Ensembl chr 2:26,692,722...26,733,420 		JBrowse link
G KCTD18 potassium channel tetramerization domain containing 18 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:200,488,958...200,510,068
Ensembl chr 2:200,488,958...200,519,784 		JBrowse link
G KDM6A lysine demethylase 6A IAGP HPO MIM:147920 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779 		JBrowse link
G KIAA0319L KIAA0319 like IAGP HPO ORPHA:220402 NCBI chr 1:35,433,492...35,557,661
Ensembl chr 1:35,393,883...35,557,950 		JBrowse link
G KLF7 KLF transcription factor 7 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:207,074,137...207,173,851
Ensembl chr 2:207,074,137...207,173,856 		JBrowse link
G KMT2D lysine methyltransferase 2D IAGP HPO MIM:147920 MIM:620186 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:2396 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G KRT18 keratin 18 IAGP HPO MIM:215600 NCBI chr12:52,948,855...52,952,906
Ensembl chr12:52,948,871...52,952,906 		JBrowse link
G LAMA2 laminin subunit alpha 2 IAGP HPO ORPHA:258 NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566 		JBrowse link
G LAMB2 laminin subunit beta 2 IAGP HPO ORPHA:98915 NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118 		JBrowse link
G LANCL1 LanC like glutathione S-transferase 1 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:210,431,251...210,477,584
Ensembl chr 2:210,427,131...210,477,652 		JBrowse link
G LARS2 leucyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:617021 NCBI chr 3:45,388,576...45,549,407
Ensembl chr 3:45,388,561...45,554,726 		JBrowse link
G LIFR LIF receptor subunit alpha IAGP HPO MIM:601559 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		JBrowse link
G LIPT1 lipoyltransferase 1 IAGP HPO MIM:616299 NCBI chr 2:99,154,967...99,163,137
Ensembl chr 2:99,154,955...99,163,157 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:740 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LOC129935429 ATAC-STARR-seq lymphoblastoid active region 16999 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:202,375,175...202,375,334 JBrowse link
G LOC129935430 ATAC-STARR-seq lymphoblastoid active region 17000 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:202,375,445...202,375,734 JBrowse link
G LOC129935431 ATAC-STARR-seq lymphoblastoid silent region 12241 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:202,375,825...202,375,874 JBrowse link
G LOC129935432 ATAC-STARR-seq lymphoblastoid silent region 12242 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:202,376,025...202,376,514 JBrowse link
G LOC129935433 ATAC-STARR-seq lymphoblastoid silent region 12243 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:202,376,645...202,376,704 JBrowse link
G LOC129935434 ATAC-STARR-seq lymphoblastoid silent region 12244 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar Annotator: match by term: Primary pulmonary hypertension		 ClinVar PMID:19223935 PMID:25741868 PMID:28492532 PMID:32581362 NCBI chr 2:202,376,775...202,376,834 JBrowse link
G LOC129935435 ATAC-STARR-seq lymphoblastoid active region 17001 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:202,377,675...202,377,744 JBrowse link
G LOC129935436 ATAC-STARR-seq lymphoblastoid silent region 12245 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:202,545,681...202,545,750 JBrowse link
G MAP2 microtubule associated protein 2 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:209,424,047...209,734,112
Ensembl chr 2:209,424,047...209,734,147 		JBrowse link
G MDH1B malate dehydrogenase 1B IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:206,737,763...206,765,328
Ensembl chr 2:206,737,763...206,765,328 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO ORPHA:93932 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MED25 mediator complex subunit 25 IAGP HPO MIM:616449 ORPHA:464738 NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383 		JBrowse link
G MEG3 maternally expressed 3 IAGP HPO ORPHA:96334 NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031 		JBrowse link
G METTL21A methyltransferase 21A, HSPA lysine IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:207,580,635...207,626,053
Ensembl chr 2:207,580,631...207,625,928 		JBrowse link
G MGP matrix Gla protein IAGP HPO ORPHA:85202 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857 		JBrowse link
G MLX MAX dimerization protein MLX IAGP HPO ORPHA:3287 NCBI chr17:42,567,100...42,573,203
Ensembl chr17:42,567,072...42,573,239 		JBrowse link
G MMACHC metabolism of cobalamin associated C IAGP HPO MIM:277400 ORPHA:79282 NCBI chr 1:45,500,300...45,513,382
Ensembl chr 1:45,500,300...45,513,382 		JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor IAGP HPO ORPHA:71493 NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466 		JBrowse link
G MPP4 MAGUK p55 scaffold protein 4 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:201,644,874...201,698,644
Ensembl chr 2:201,644,870...201,698,694 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP HPO ORPHA:550 NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445 		JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II IAGP HPO ORPHA:550 NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP HPO ORPHA:550 NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP HPO ORPHA:550 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 IAGP HPO ORPHA:550 NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 IAGP HPO ORPHA:550 NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148 		JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 IAGP HPO ORPHA:550 NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673 		JBrowse link
G MT-TF mitochondrially encoded tRNA-Phe (UUU/C) IAGP HPO ORPHA:550 NCBI chr MT:577...647
Ensembl chr MT:577...647 		JBrowse link
G MT-TH mitochondrially encoded tRNA-His (CAU/C) IAGP HPO ORPHA:550 NCBI chr MT:12,138...12,206
Ensembl chr MT:12,138...12,206 		JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP HPO ORPHA:550 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304 		JBrowse link
G MT-TQ mitochondrially encoded tRNA-Gln (CAA/G) IAGP HPO ORPHA:550 NCBI chr MT:4,329...4,400
Ensembl chr MT:4,329...4,400 		JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP HPO ORPHA:550 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		JBrowse link
G MT-TS2 mitochondrially encoded tRNA-Ser (AGU/C) 2 IAGP HPO ORPHA:550 NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265 		JBrowse link
G MT-TW mitochondrially encoded tRNA-Trp (UGA/G) IAGP HPO ORPHA:550 NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579 		JBrowse link
G MUC5B mucin 5B, oligomeric mucus/gel-forming IAGP HPO MIM:178500 NCBI chr11:1,223,066...1,262,172
Ensembl chr11:1,223,066...1,262,172 		JBrowse link
G MYBPC3 myosin binding protein C3 IAGP HPO MIM:615396 NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702 		JBrowse link
G MYH6 myosin heavy chain 6 IAGP HPO ORPHA:99103 NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP HPO MIM:613426 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G MYL1 myosin light chain 1 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:210,290,150...210,315,174
Ensembl chr 2:210,290,150...210,315,174 		JBrowse link
G MYMK myomaker, myoblast fusion factor IAGP HPO MIM:254940 NCBI chr 9:133,514,586...133,524,959
Ensembl chr 9:133,514,586...133,528,612 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP HPO MIM:300855 NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080 		JBrowse link
G NBEAL1 neurobeachin like 1 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar Annotator: match by term: Primary pulmonary hypertension		 ClinVar PMID:28492532 PMID:31727138 PMID:32581362 NCBI chr 2:203,014,608...203,225,194
Ensembl chr 2:203,014,608...203,226,378 		JBrowse link
G NDUFA8 NADH:ubiquinone oxidoreductase subunit A8 IAGP HPO MIM:619272 NCBI chr 9:122,132,466...122,159,779
Ensembl chr 9:122,144,058...122,159,779 		JBrowse link
G NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 IAGP HPO MIM:619003 NCBI chr16:1,959,538...1,961,975
Ensembl chr16:1,959,538...1,961,975 		JBrowse link
G NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:201,072,001...201,085,750
Ensembl chr 2:201,071,433...201,085,750 		JBrowse link
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:206,114,817...206,159,444
Ensembl chr 2:206,114,817...206,159,509 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO ORPHA:97685 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G NFIX nuclear factor I X IAGP HPO MIM:602535 ORPHA:447980 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796 		JBrowse link
G NFU1 NFU1 iron-sulfur cluster scaffold IAGP HPO MIM:605711 NCBI chr 2:69,395,750...69,439,567
Ensembl chr 2:69,396,113...69,437,628 		JBrowse link
G NIF3L1 NGG1 interacting factor 3 like 1 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:200,889,327...200,903,932
Ensembl chr 2:200,889,327...200,903,938 		JBrowse link
G NKX2-1 NK2 homeobox 1 IAGP HPO ORPHA:209905 NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149 		JBrowse link
G NKX2-5 NK2 homeobox 5 IAGP HPO ORPHA:99103 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 IAGP HPO ORPHA:90340 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077 		JBrowse link
G NOP58 NOP58 ribonucleoprotein IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar Annotator: match by term: Primary pulmonary hypertension		 ClinVar PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074 More... NCBI chr 2:202,265,763...202,303,661
Ensembl chr 2:202,265,736...202,303,661 		JBrowse link
G NOTCH1 notch receptor 1 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar
HPO		 PMID:15472075 PMID:16614245 PMID:18593716 PMID:19245433 PMID:19635999 More... MIM:616028 ORPHA:974 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048 		JBrowse link
G NOTCH3 notch receptor 3 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:22006983 PMID:22153900 PMID:22159056 PMID:24086431 PMID:25741868 More... NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995 		JBrowse link
G NRP2 neuropilin 2 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:205,682,501...205,798,131
Ensembl chr 2:205,681,990...205,798,133 		JBrowse link
G ODAD1 outer dynein arm docking complex subunit 1 IAGP HPO MIM:615067 NCBI chr19:48,296,452...48,321,971
Ensembl chr19:48,296,457...48,321,971 		JBrowse link
G ORC2 origin recognition complex subunit 2 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:200,908,977...200,963,660
Ensembl chr 2:200,908,977...200,963,680 		JBrowse link
G PAM16 presequence translocase associated motor 16 IAGP HPO MIM:613320 NCBI chr16:4,340,251...4,351,321
Ensembl chr16:4,331,549...4,355,607 		JBrowse link
G PARD3B par-3 family cell polarity regulator beta IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:204,545,475...205,620,162
Ensembl chr 2:204,545,475...205,620,162 		JBrowse link
G PDSS1 decaprenyl diphosphate synthase subunit 1 IAGP HPO MIM:614651 NCBI chr10:26,697,701...26,746,798
Ensembl chr10:26,697,701...26,746,798 		JBrowse link
G PGM1 phosphoglucomutase 1 IAGP HPO MIM:614921 NCBI chr 1:63,593,411...63,660,245
Ensembl chr 1:63,593,411...63,660,245 		JBrowse link
G PHF6 PHD finger protein 6 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr  X:134,373,312...134,428,790
Ensembl chr  X:134,373,288...134,428,791 		JBrowse link
G PIGN phosphatidylinositol glycan anchor biosynthesis class N IAGP HPO ORPHA:280633 NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118 		JBrowse link
G PIKFYVE phosphoinositide kinase, FYVE-type zinc finger containing IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:208,266,056...208,358,746
Ensembl chr 2:208,266,255...208,358,746 		JBrowse link
G PLEKHM3 pleckstrin homology domain containing M3 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:207,821,288...208,025,527
Ensembl chr 2:207,821,288...208,025,527 		JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:6144131 PMID:16144131 PMID:16283678 PMID:18602922 PMID:19283792 More... NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,130 		JBrowse link
G PPCS phosphopantothenoylcysteine synthetase IAGP HPO MIM:618189 NCBI chr 1:42,456,341...42,473,417
Ensembl chr 1:42,456,117...42,473,385 		JBrowse link
G PPIL3 peptidylprolyl isomerase like 3 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:200,870,907...200,889,291
Ensembl chr 2:200,870,907...200,889,303 		JBrowse link
G PRDX1 peroxiredoxin 1 IAGP HPO MIM:277400 NCBI chr 1:45,511,051...45,522,890
Ensembl chr 1:45,510,914...45,542,732 		JBrowse link
G PRIM1 DNA primase subunit 1 IAGP HPO MIM:620005 NCBI chr12:56,731,580...56,752,323
Ensembl chr12:56,730,438...56,752,374 		JBrowse link
G PTGIS prostaglandin I2 synthase susceptibility IAGP DNA:SNP, missense mutations:intron 4, CDS:c.521+1G>A, p.R252Q (c.755G>A), p.A447T (c.1339G>A) (, rs759344518, rs146531327)
DNA:repeat, SNPs:promoter, intron: , 185C>T, 325C>A ( , rs5582, rs116939356)		 RGD PMID:32236489 PMID:24605778 RGD:401901150, RGD:401959406 NCBI chr20:49,503,874...49,568,137
Ensembl chr20:49,503,874...49,568,137 		JBrowse link
G PTH2R parathyroid hormone 2 receptor IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:208,359,692...208,494,506
Ensembl chr 2:208,359,714...208,854,503 		JBrowse link
G RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar Annotator: match by term: Primary pulmonary hypertension		 ClinVar PMID:28492532 PMID:31727138 PMID:32581362 NCBI chr 2:203,433,682...203,535,301
Ensembl chr 2:203,394,345...203,535,335 		JBrowse link
G RBPJ recombination signal binding protein for immunoglobulin kappa J region IAGP HPO ORPHA:974 NCBI chr 4:26,105,449...26,435,131
Ensembl chr 4:26,163,455...26,435,131 		JBrowse link
G RPE ribulose-5-phosphate-3-epimerase IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:210,002,638...210,022,260
Ensembl chr 2:210,002,565...210,022,260 		JBrowse link
G RPL3L ribosomal protein L3 like IAGP HPO MIM:619371 NCBI chr16:1,943,974...1,954,689
Ensembl chr16:1,943,974...1,957,606 		JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP HPO ORPHA:96334 NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722 		JBrowse link
G SARS2 seryl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:613845 NCBI chr19:38,915,266...38,930,763
Ensembl chr19:38,915,266...38,930,763 		JBrowse link
G SCARB2 scavenger receptor class B member 2 IAGP HPO ORPHA:77259 NCBI chr 4:76,158,737...76,234,532
Ensembl chr 4:76,158,737...76,234,536 		JBrowse link
G SFTPA2 surfactant protein A2 IAGP HPO MIM:178500 NCBI chr10:79,555,852...79,560,407
Ensembl chr10:79,555,852...79,560,407 		JBrowse link
G SFTPB surfactant protein B IAGP HPO MIM:265120 ORPHA:217563 NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741 		JBrowse link
G SFTPC surfactant protein C IAGP HPO MIM:178500 MIM:610913 NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479 		JBrowse link
G SGO2 shugoshin 2 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:200,526,142...200,584,096
Ensembl chr 2:200,510,008...200,584,096 		JBrowse link
G SLC25A24 solute carrier family 25 member 24 IAGP HPO MIM:612289 NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849 		JBrowse link
G SLC29A3 solute carrier family 29 member 3 IAGP HPO MIM:602782 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP HPO MIM:232240 NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906 		JBrowse link
G SMAD4 SMAD family member 4 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar
HPO		 PMID:25559809 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29684080 ORPHA:774 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G SMAD9 SMAD family member 9 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar
HPO		 MIM:615342 NCBI chr13:36,844,831...36,920,854
Ensembl chr13:36,844,831...36,920,887 		JBrowse link
G SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 IAGP HPO MIM:242900 ORPHA:1830 NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053 		JBrowse link
G SNX10 sorting nexin 10 IAGP HPO ORPHA:667 NCBI chr 7:26,291,862...26,374,383
Ensembl chr 7:26,291,862...26,374,383 		JBrowse link
G SOX17 SRY-box transcription factor 17 onset
susceptibility		 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension
associated with congenital heart disease;DNA:mutations:multiple
DNA:nonsense mutation:CDS:p.Q127*
DNA:frameshift mutations, missense mutations, SNP:CDS, intron:multiple
DNA:SNPs:enhancers: (rs10103692, rs13266183)		 ClinVar
RGD		 PMID:30029678 PMID:33952808 PMID:29650961 PMID:30527955 RGD:329853313, RGD:329853326, RGD:329853735, RGD:329955464 NCBI chr 8:54,457,935...54,460,892
Ensembl chr 8:54,457,935...54,460,892 		JBrowse link
G SPATS2L spermatogenesis associated serine rich 2 like IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:200,305,879...200,482,264
Ensembl chr 2:200,305,881...200,482,264 		JBrowse link
G STAT1 signal transducer and activator of transcription 1 IAGP HPO ORPHA:391487 NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960 		JBrowse link
G STRADB STE20 related adaptor beta IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:201,451,740...201,480,846
Ensembl chr 2:201,387,858...201,480,846 		JBrowse link
G SUMO1 small ubiquitin like modifier 1 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar Annotator: match by term: Primary pulmonary hypertension		 ClinVar PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074 More... NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599 		JBrowse link
G TBX20 T-box transcription factor 20 IAGP HPO ORPHA:99103 NCBI chr 7:35,202,430...35,254,100
Ensembl chr 7:35,202,430...35,254,100 		JBrowse link
G TBX4 T-box transcription factor 4 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar
HPO		 PMID:15106123 PMID:25741868 PMID:28492532 PMID:29120062 PMID:29650961 More... ORPHA:261279 NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,452,404...61,485,110 		JBrowse link
G TBX5 T-box transcription factor 5 IAGP HPO MIM:142900 NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP HPO ORPHA:667 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895 		JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO MIM:178500 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G THPO thrombopoietin IAGP HPO ORPHA:71493 NCBI chr 3:184,371,935...184,379,688
Ensembl chr 3:184,371,935...184,381,968 		JBrowse link
G THSD1 thrombospondin type 1 domain containing 1 IAGP HPO MIM:620244 NCBI chr13:52,377,167...52,406,172
Ensembl chr13:52,377,167...52,416,373 		JBrowse link
G TLL1 tolloid like 1 IAGP HPO ORPHA:99103 ORPHA:99106 NCBI chr 4:165,873,237...166,104,457
Ensembl chr 4:165,873,237...166,104,457 		JBrowse link
G TMEM237 transmembrane protein 237 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570 		JBrowse link
G TNFSF11 TNF superfamily member 11 IAGP HPO ORPHA:667 NCBI chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013 		JBrowse link
G TOM1 target of myb1 membrane trafficking protein IAGP HPO ORPHA:391487 NCBI chr22:35,299,275...35,347,973
Ensembl chr22:35,299,275...35,347,992 		JBrowse link
G TOPBP1 DNA topoisomerase II binding protein 1 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr 3:133,600,238...133,661,941
Ensembl chr 3:133,598,175...133,662,380 		JBrowse link
G TRAK2 trafficking kinesin protein 2 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:201,377,207...201,451,458
Ensembl chr 2:201,377,207...201,451,500 		JBrowse link
G TRRAP transformation/transcription domain associated protein IAGP HPO MIM:618454 NCBI chr 7:98,878,532...99,013,241
Ensembl chr 7:98,877,933...99,050,831 		JBrowse link
G UBE2A ubiquitin conjugating enzyme E2 A IAGP HPO ORPHA:163956 NCBI chr  X:119,574,563...119,584,423
Ensembl chr  X:119,474,802...119,591,083 		JBrowse link
G UNC80 unc-80 homolog, NALCN channel complex subunit IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:209,771,832...209,999,296
Ensembl chr 2:209,771,569...209,999,300 		JBrowse link
G VAC14 VAC14 component of PIKFYVE complex IAGP HPO ORPHA:3472 NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160 		JBrowse link
G VCL vinculin IAGP HPO MIM:613255 NCBI chr10:73,998,116...74,121,363
Ensembl chr10:73,995,193...74,121,363 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP HPO MIM:263400 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667 		JBrowse link
G VPS33A VPS33A core subunit of CORVET and HOPS complexes IAGP HPO ORPHA:505248 NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,502 		JBrowse link
G WDR12 WD repeat domain 12 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar Annotator: match by term: Primary pulmonary hypertension		 ClinVar PMID:28492532 PMID:31727138 PMID:32581362 NCBI chr 2:202,874,261...202,911,673
Ensembl chr 2:202,874,261...203,014,798 		JBrowse link
G ZDBF2 zinc finger DBF-type containing 2 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:206,274,663...206,314,427
Ensembl chr 2:206,274,663...206,314,427 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO ORPHA:740 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
G ZNF699 zinc finger protein 699 IAGP HPO MIM:619488 NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838 		JBrowse link
Pulmonary arterial hypertension with lack of acute response to NO challenge term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNK3 potassium two pore domain channel subfamily K member 3 IAGP HPO MIM:615344 NCBI chr 2:26,692,722...26,733,420
Ensembl chr 2:26,692,722...26,733,420 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 73980
    Phenotypic abnormality 73674
      Abnormality of the respiratory system 4924
        Abnormal respiratory system physiology 4806
          Abnormality of pulmonary circulation 344
            Elevated pulmonary artery pressure 271
              Pre-capillary pulmonary hypertension 269
                Pulmonary arterial hypertension 269
                  Pulmonary arterial hypertension with lack of acute response to NO challenge 1
                  Pulmonary arterial hypertension with positive acute response to NO challenge 0
Path 2
Term Annotations click to browse term
  Human phenotype 73980
    Phenotypic abnormality 73674
      Abnormality of the cardiovascular system 12060
        Abnormality of the vasculature 6963
          Abnormal vascular physiology 597
            Abnormality of pulmonary circulation 344
              Elevated pulmonary artery pressure 271
                Pre-capillary pulmonary hypertension 269
                  Pulmonary arterial hypertension 269
                    Pulmonary arterial hypertension with lack of acute response to NO challenge 1
                    Pulmonary arterial hypertension with positive acute response to NO challenge 0
paths to the root