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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:pulmonary hypertension
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Accession:DOID:6432 term browser browse the term
Definition:Increased VASCULAR RESISTANCE in the PULMONARY CIRCULATION, usually secondary to HEART DISEASES or LUNG DISEASES.
Synonyms:exact_synonym: PHT
 narrow_synonym: PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED;   PULMONARY HYPERTENSION, PRIMARY, FENFLURAMINE-ASSOCIATED
 primary_id: MESH:D006976
 alt_id: RDO:0001161;   RDO:0001800
 xref: ICD10CM:I27.20;   NCI:C3120
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
pulmonary 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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26780485 NCBI chr10:13,723,365...13,780,558
Ensembl chr10:13,723,405...13,779,963 		JBrowse link
G Ace angiotensin I converting enzyme ISO CTD Direct Evidence: marker/mechanism CTD PMID:12359135 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822 		JBrowse link
G Ace2 angiotensin I converting enzyme 2 treatment ISO CTD Direct Evidence: therapeutic
human protein in a rat model		 CTD PMID:31931441, PMID:25225206 RGD:40818280 NCBI chr  X:32,050,734...32,095,860
Ensembl chr  X:32,049,931...32,096,016 		JBrowse link
G Acvrl1 activin A receptor like type 1 susceptibility
disease_progression		 ISO
IEP		 associated with hereditary haemorrhagic telangiectasia;DNA:missense mutations
ClinVar Annotator: match by term: Pulmonary hypertension
CTD Direct Evidence: marker/mechanism
DNA:mutations (human)
mRNA:increased expression:lung		 ClinVar
CTD		 PMID:11484689 PMID:15687131 PMID:16540754 PMID:17786384 PMID:18159113 PMID:20056902 PMID:20501893 PMID:21378382 PMID:22632830 PMID:23298310 PMID:23919827 PMID:25741868 PMID:26387786 PMID:26540443 PMID:28492532 PMID:32581362, PMID:14684682, PMID:20056902, PMID:17392319 RGD:1601117, RGD:5128837, RGD:1601116 NCBI chr 7:142,769,942...142,787,336
Ensembl chr 7:142,776,252...142,787,335 		JBrowse link
G Adh5 alcohol dehydrogenase 5 (class III), chi polypeptide ISO RGD PMID:20431245 RGD:5128886 NCBI chr 2:243,728,500...243,740,907
Ensembl chr 2:243,700,784...243,740,899 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO RGD PMID:19168697 RGD:5686821 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488 		JBrowse link
G Adm adrenomedullin ISO RGD PMID:14718403 RGD:1625305 NCBI chr 1:175,443,189...175,447,260
Ensembl chr 1:175,445,088...175,447,259 		JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO protein:increased expression:lung (human) RGD PMID:21041689 RGD:7244258 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079 		JBrowse link
G Agt angiotensinogen IDA RGD PMID:21381494 RGD:5129162 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433 		JBrowse link
G Agtr1a angiotensin II receptor, type 1a onset ISO DNA:polymorphism:3' utr:1166A>C (human) RGD PMID:19332265 RGD:5147450 NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077 		JBrowse link
G Alas1 5'-aminolevulinate synthase 1 IEP mRNA:increased expression:lung (rat) RGD PMID:16181105 RGD:4144185 NCBI chr 8:114,927,704...114,941,038
Ensembl chr 8:114,927,722...114,940,177 		JBrowse link
G Alox5 arachidonate 5-lipoxygenase treatment ISO
IEP
IMP
IDA		 protein:increased expression:artery
CTD Direct Evidence: marker/mechanism		 CTD PMID:14726295, PMID:9445303, PMID:31462075, PMID:31462075, PMID:14726295, PMID:8647941 RGD:1626154, RGD:14975304, RGD:14975304, RGD:4890418, RGD:734558 NCBI chr 4:148,398,004...148,446,308
Ensembl chr 4:148,398,892...148,446,303 		JBrowse link
G Alox5ap arachidonate 5-lipoxygenase activating protein ISO
IMP		 protein:increased expression:artery RGD PMID:9445303, PMID:8647941 RGD:1626154, RGD:734558 NCBI chr12:6,854,930...6,879,112
Ensembl chr12:6,854,920...6,879,154 		JBrowse link
G Angpt1 angiopoietin 1 IEP protein:decreased expression:pulmonary artery RGD PMID:18073453 RGD:2316069 NCBI chr 7:81,338,327...81,592,459
Ensembl chr 7:81,342,280...81,592,206 		JBrowse link
G Angpt2 angiopoietin 2 IEP protein:increased expression:pulmonary artery (rat) RGD PMID:19712575 RGD:2314185 NCBI chr16:75,966,480...76,016,147
Ensembl chr16:75,966,352...76,016,195 		JBrowse link
G Apln apelin ISO protein:decreased expression:plasma RGD PMID:16263185 RGD:1626175 NCBI chr  X:134,856,719...134,866,210
Ensembl chr  X:134,856,726...134,866,210 		JBrowse link
G Arg2 arginase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24951775 NCBI chr 6:102,311,097...102,338,406
Ensembl chr 6:102,311,116...102,338,520 		JBrowse link
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 treatment IEP
ISO		 RGD PMID:27144451, PMID:23804254 RGD:13782086, RGD:13782089 NCBI chr12:39,553,903...39,603,326
Ensembl chr12:39,553,903...39,603,326 		JBrowse link
G Atp5f1a ATP synthase F1 subunit alpha treatment IDA chronic thromboembolic pulmonary hypertension RGD PMID:21396162 RGD:13703061 NCBI chr18:74,156,553...74,164,490
Ensembl chr18:74,156,553...74,164,495 		JBrowse link
G Atp5pf ATP synthase peripheral stalk subunit F6 treatment IEP
IMP		 mRNA, protein:increased expression:lung, plasma (rat) RGD PMID:27916219, PMID:27491388 RGD:13800892, RGD:13800894 NCBI chr11:24,286,806...24,294,419
Ensembl chr11:24,286,787...24,294,179 		JBrowse link
G Atp7a ATPase copper transporting alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614111 NCBI chr  X:77,076,085...77,193,644
Ensembl chr  X:77,076,106...77,193,644 		JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP protein:decreased expression:heart right ventricle RGD PMID:18441466 RGD:2293022 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374 		JBrowse link
G Bcl2l1 Bcl2-like 1 treatment IDA RGD PMID:22559233 RGD:10400914 NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810 		JBrowse link
G Bdkrb2 bradykinin receptor B2 IDA RGD PMID:15878794 RGD:4890453 NCBI chr 6:129,399,468...129,429,676
Ensembl chr 6:129,399,468...129,429,676 		JBrowse link
G Birc5 baculoviral IAP repeat-containing 5 IMP
IEP		 protein:increased expression:pulmonary artery RGD PMID:15931388, PMID:15931388 RGD:2293135, RGD:2293135 NCBI chr10:106,856,097...106,864,419
Ensembl chr10:106,856,097...106,864,413 		JBrowse link
G Bmpr1a bone morphogenetic protein receptor type 1A ISO RGD PMID:19324947 RGD:5129472 NCBI chr16:10,758,278...10,852,170
Ensembl chr16:10,758,527...10,802,512 		JBrowse link
G Bmpr1b bone morphogenetic protein receptor type 1B ISO RGD PMID:19324947 RGD:5129472 NCBI chr 2:247,392,195...247,662,026
Ensembl chr 2:247,403,920...247,446,882 		JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 treatment
disease_progression		 ISO
IMP
IEP		 DNA:mutations: :multiple (human)
induced by human ad-ALOX5
protein:decreased expression:lung
CTD Direct Evidence: marker/mechanism
DNA:missense mutations (human)		 CTD PMID:11590841 PMID:11893684 PMID:12358323 PMID:16297860 PMID:20496075 PMID:20522807 PMID:23383100 PMID:23502781 PMID:24224048, PMID:20002458, PMID:31462075, PMID:21737550, PMID:25593290, PMID:19324947, PMID:19785764, PMID:20534176, PMID:18663089, PMID:15775752 RGD:5129238, RGD:14975304, RGD:38500243, RGD:38500244, RGD:5129472, RGD:5129239, RGD:5129237, RGD:5129474, RGD:1580076 NCBI chr 9:66,568,074...66,683,019
Ensembl chr 9:66,568,074...66,676,494 		JBrowse link
G Bmpr2em1Sage bone morphogenetic protein receptor type 2; ZFN induced mutant 1, Sage IMP induced by human ad-ALOX5 RGD PMID:31462075 RGD:14975304
G Bmpr2em2Sage bone morphogenetic protein receptor type 2; ZFN induced mutant 2, Sage IMP induced by human ad-ALOX5 RGD PMID:31462075 RGD:14975304
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: therapeutic CTD PMID:26224795 NCBI chr 7:14,222,101...14,303,055
Ensembl chr 7:14,222,101...14,303,055 		JBrowse link
G Ca9 carbonic anhydrase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20110409 NCBI chr 5:59,008,277...59,015,535
Ensembl chr 5:59,008,933...59,015,528 		JBrowse link
G Calca calcitonin-related polypeptide alpha ISO CTD Direct Evidence: therapeutic CTD PMID:1357980 NCBI chr 1:184,184,018...184,188,922
Ensembl chr 1:184,184,020...184,188,911 		JBrowse link
G Casr calcium-sensing receptor IEP protein:increased expression:pulmonary artery (rat) RGD PMID:22730443 RGD:7205669 NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771 		JBrowse link
G Cav1 caveolin 1 treatment ISO
IEP		 idiopathic pulmonary arterial hypertension (IPAH) RGD PMID:17470567, PMID:23538027, PMID:15353500 RGD:1625360, RGD:8662276, RGD:1581153 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200 		JBrowse link
G Cavin1 caveolae associated protein 1 ISS OMIM:615371 MouseDO NCBI chr10:88,862,513...88,874,495
Ensembl chr10:88,860,733...88,874,528 		JBrowse link
G Cbln2 cerebellin 2 precursor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23502781 NCBI chr18:83,775,568...83,783,841
Ensembl chr18:83,777,665...83,782,930 		JBrowse link
G Ccl1 C-C motif chemokine ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22507635 NCBI chr10:69,534,976...69,537,836
Ensembl chr10:69,534,933...69,537,882 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP
ISO		 protein:increased expression:lung, plasma
CTD Direct Evidence: marker/mechanism
protein:increased expression:bronchoalveolar lavage fluid (rat)		 CTD PMID:15302794 PMID:30418988, PMID:19087668, PMID:9605182 RGD:2307003, RGD:8549547 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870 		JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased secretion:serum (human) RGD PMID:19932032 RGD:4891440 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315 		JBrowse link
G Ccn2 cellular communication network factor 2 IEP protein:increased expression:pulmonary artery (rat) RGD PMID:19234054 RGD:2314535 NCBI chr 1:21,851,657...21,854,773
Ensembl chr 1:21,851,660...21,854,773 		JBrowse link
G Cd209 CD209 molecule ISO RGD PMID:17107989 RGD:5131187 NCBI chr12:2,406,879...2,413,324
Ensembl chr12:2,406,879...2,413,324 		JBrowse link
G Cd209c CD209c molecule ISO RGD PMID:17107989 RGD:5131187 NCBI chr12:2,837,991...2,846,709
Ensembl chr12:2,838,128...2,843,772 		JBrowse link
G Cd28 Cd28 molecule ISO RGD PMID:19075187 RGD:5131619 NCBI chr 9:67,546,408...67,573,858
Ensembl chr 9:67,546,408...67,571,871 		JBrowse link
G Cd40 CD40 molecule treatment IMP RGD PMID:25998782 RGD:11344970 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704 		JBrowse link
G Cd40lg CD40 ligand IEP
ISO		 protein:increased expression:serum (rat)
CTD Direct Evidence: marker/mechanism		 CTD PMID:15302794, PMID:25998782 RGD:11344970 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562 		JBrowse link
G Cd86 CD86 molecule ISO protein:decreased expression:blood, myeloid dendritic cell (human) RGD PMID:19693657 RGD:4892293 NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795 		JBrowse link
G Cdh5 cadherin 5 IEP protein:decreased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chr19:1,025,122...1,074,333
Ensembl chr19:1,023,683...1,074,365 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A treatment ISO
IEP		 RGD PMID:24334871, PMID:24412385 RGD:10043360, RGD:10043361 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864 		JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B treatment IEP RGD PMID:22383500 RGD:10045357 NCBI chr 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964 		JBrowse link
G Clu clusterin IEP RGD PMID:25069740 RGD:9068424 NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857 		JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment IEP RGD PMID:25867313 RGD:11041577 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789 		JBrowse link
G Col4a1 collagen type IV alpha 1 chain treatment IEP RGD PMID:25867313 RGD:11041577 NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153 		JBrowse link
G Crp C-reactive protein ISO associated with Pulmonary Disease, Chronic Obstructive RGD PMID:22333502 RGD:6482312 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713 		JBrowse link
G Csf3 colony stimulating factor 3 treatment ISO RGD PMID:17186992, PMID:12524378 RGD:11039432, RGD:11039539 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157 		JBrowse link
G Ctnnd1 catenin delta 1 treatment IEP RGD PMID:25593290 RGD:38500244 NCBI chr 3:72,001,904...72,053,047
Ensembl chr 3:72,002,152...72,053,049 		JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO
IEP		 protein:increased expression:lung
associated with Heart Defects, Congenital
mRNA, protein:increased expression:lung		 RGD PMID:19948918, PMID:20869263, PMID:18630689 RGD:4891887, RGD:4891883, RGD:4891889 NCBI chr19:10,644,267...10,654,861
Ensembl chr19:10,644,244...10,653,800 		JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 IEP
ISO		 mRNA, protein:increased expression:lung
associated with Scleroderma, Systemic;DNA:polymorphisms: :p.V249I, p.T280M (human)		 RGD PMID:17182651, PMID:16584113 RGD:4891893, RGD:4891896 NCBI chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 treatment IMP RGD PMID:21294880 RGD:6480473 NCBI chr13:45,314,952...45,318,856
Ensembl chr13:45,314,933...45,318,878 		JBrowse link
G Cyba cytochrome b-245 alpha chain IDA
ISO		 associated with Anoxia;mRNA, protein:increased expression:lung RGD PMID:18424632, PMID:18952568 RGD:4773907, RGD:4762683 NCBI chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876 		JBrowse link
G Cybb cytochrome b-245 beta chain treatment ISO
IEP		 associated with Anoxia RGD PMID:18952568, PMID:18424632 RGD:4762683, RGD:4773907 NCBI chr  X:14,578,330...14,610,049
Ensembl chr  X:14,578,264...14,612,547 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 IEP mRNA,protein:increased expression:lung RGD PMID:28956952 RGD:13702097 NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147 		JBrowse link
G Cyp2j4 cytochrome P450, family 2, subfamily j, polypeptide 4 ISO RGD PMID:20118222 RGD:7243137 NCBI chr 5:119,546,458...119,564,843
Ensembl chr 5:119,546,461...119,564,846 		JBrowse link
G Cysltr1 cysteinyl leukotriene receptor 1 IMP associated with Anoxia RGD PMID:12910720 RGD:4848274 NCBI chr  X:77,671,028...77,700,491
Ensembl chr  X:77,674,150...77,700,269 		JBrowse link
G Ece1 endothelin converting enzyme 1 IMP associated with Anoxia; RGD PMID:18767389 RGD:7243939 NCBI chr 5:156,215,469...156,318,652
Ensembl chr 5:156,215,417...156,318,671 		JBrowse link
G Edn1 endothelin 1 ISO
IEP		 associated with Pulmonary Disease, Chronic Obstructive; protein:increased secretion:plasma (human)
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:lung (rat)
Hypertension, Portopulmonary; protein:increased secretion:plasma (human)
Hypertension, Heritable Pulmonary Artery; mRNA:increased expression:bone marrow, macrophage (mouse)		 CTD PMID:7549228 PMID:9918753 PMID:12391278 PMID:20929026 PMID:20967148, PMID:20890431, PMID:20889845, PMID:20498147, PMID:20562228 RGD:4144865, RGD:4144128, RGD:4144882, RGD:4144877 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324 		JBrowse link
G Edn2 endothelin 2 ISO RGD PMID:10598486 RGD:1580918 NCBI chr 5:139,098,472...139,106,396
Ensembl chr 5:139,100,898...139,105,792 		JBrowse link
G Ednra endothelin receptor type A IMP
IDA
ISO		 RGD PMID:20531217, PMID:15243299, PMID:20562228, PMID:18506008 RGD:4892283, RGD:1580949, RGD:4144877, RGD:4892320 NCBI chr19:33,928,356...33,991,703
Ensembl chr19:33,928,356...33,991,703 		JBrowse link
G Ednrb endothelin receptor type B IMP
ISO
IDA		 CTD Direct Evidence: marker/mechanism CTD PMID:15927975, PMID:18091567, PMID:15243299, PMID:20562228 RGD:4892289, RGD:1580949, RGD:4144877 NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354 		JBrowse link
G Egfr epidermal growth factor receptor ISO protein:increased expression:lung, arteriole (human) RGD PMID:12896876, PMID:21492463 RGD:5131639, RGD:5131626 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796 		JBrowse link
G Egr1 early growth response 1 ISO
IEP		 protein:increased expression:lung (human)
mRNA, protein:increased expression:lung (rat)
mRNA, protein:increased expression:lung (mouse)		 RGD PMID:20889906, PMID:21924231, PMID:20889906, PMID:20023177, PMID:18599502 RGD:5131875, RGD:10395308, RGD:5131875, RGD:5131883, RGD:5131890 NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429 		JBrowse link
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24292273 NCBI chr 3:110,159,624...110,245,382
Ensembl chr 3:110,159,708...110,249,217 		JBrowse link
G Eng endoglin ISO RGD PMID:20042709 RGD:11041178 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485 		JBrowse link
G Epas1 endothelial PAS domain protein 1 IEP
ISO		 DNA:missense mutation:cds: 2097G>A,p.G537R(human) RGD PMID:16215633, PMID:18650473 RGD:10395375, RGD:11041573 NCBI chr 6:10,306,508...10,385,239
Ensembl chr 6:10,306,405...10,387,265 		JBrowse link
G Ephx2 epoxide hydrolase 2 IMP RGD PMID:19226702 RGD:5688731 NCBI chr15:42,757,241...42,794,211
Ensembl chr15:42,757,235...42,794,279 		JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:22559233 RGD:10400914 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266 		JBrowse link
G Esr1 estrogen receptor 1 ISO RGD PMID:20081107 RGD:4892253 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796 		JBrowse link
G Esr2 estrogen receptor 2 IDA RGD PMID:21700911 RGD:5508791 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251 		JBrowse link
G F5 coagulation factor V ISO Chronic thromboembolic pulmonary hypertension (CTEPH) RGD PMID:20182352 RGD:4892669 NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534 		JBrowse link
G Fbln5 fibulin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12189163 NCBI chr 6:125,644,797...125,723,957
Ensembl chr 6:125,644,804...125,723,944 		JBrowse link
G Fgf2 fibroblast growth factor 2 IMP
ISO		 mRNA:increased expression:lung RGD PMID:19197140, PMID:19197140 RGD:2315911, RGD:2315911 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 IMP RGD PMID:19197140 RGD:2315911 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449 		JBrowse link
G Foxo1 forkhead box O1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr 2:141,451,234...141,527,016
Ensembl chr 2:141,451,234...141,527,016 		JBrowse link
G Gata4 GATA binding protein 4 IEP protein:increased expression:heart right ventricle RGD PMID:21059997 RGD:7207053 NCBI chr15:46,386,703...46,458,679
Ensembl chr15:46,386,712...46,432,965 		JBrowse link
G Gata6 GATA binding protein 6 IEP
ISO		 mRNA, protein:decreased expression:lung
protein:decreased expression:lung, arteriole, venule (human)		 RGD PMID:19842842, PMID:23583651, PMID:23583651 RGD:2314194, RGD:13208869, RGD:13208869 NCBI chr18:2,415,821...2,447,087
Ensembl chr18:2,416,552...2,446,338 		JBrowse link
G Gba glucosylceramidase beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:12359135 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601 		JBrowse link
G Gdf2 growth differentiation factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26801773 NCBI chr16:10,267,510...10,293,545
Ensembl chr16:10,267,482...10,273,239 		JBrowse link
G Gja1 gap junction protein, alpha 1 treatment IEP mRNA:increased expression:pulmonary artery RGD PMID:21414209, PMID:23321332 RGD:7207411, RGD:8662411 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089 		JBrowse link
G Gpr182 G protein-coupled receptor 182 IEP mRNA:increased expression:lung RGD PMID:12622928 RGD:1625768 NCBI chr 7:71,044,786...71,048,713
Ensembl chr 7:71,045,543...71,048,383 		JBrowse link
G Has1 hyaluronan synthase 1 IEP RGD PMID:19915162 RGD:9588633 NCBI chr 1:59,720,612...59,732,409
Ensembl chr 1:59,720,612...59,732,409 		JBrowse link
G Has2 hyaluronan synthase 2 IEP mRNA:increased expression:lung RGD PMID:19915162 RGD:9588633 NCBI chr 7:96,438,046...96,464,049
Ensembl chr 7:96,438,046...96,464,049 		JBrowse link
G Has3 hyaluronan synthase 3 IEP mRNA:decreased expression:lung RGD PMID:19915162 RGD:9588633 NCBI chr19:39,063,298...39,077,745
Ensembl chr19:39,063,998...39,077,722 		JBrowse link
G Hdac1 histone deacetylase 1 ISO
IEP		 protein:increased expression:lung: RGD PMID:22711276, PMID:22711276 RGD:9590133, RGD:9590133 NCBI chr 5:147,716,664...147,743,723
Ensembl chr 5:147,716,664...147,743,723 		JBrowse link
G Hdac2 histone deacetylase 2 ISO protein:decreased expression:lung: RGD PMID:22711276 RGD:9590133 NCBI chr20:43,084,870...43,108,198
Ensembl chr20:43,084,870...43,108,198 		JBrowse link
G Hdac3 histone deacetylase 3 ISO protein:decreased expression:lung: RGD PMID:22711276 RGD:9590133 NCBI chr18:31,073,057...31,094,347
Ensembl chr18:31,073,058...31,094,303 		JBrowse link
G Hdac4 histone deacetylase 4 ISO protein:increased expression:lung: RGD PMID:22711276 RGD:9590133 NCBI chr 9:99,052,945...99,299,715
Ensembl chr 9:99,057,089...99,299,715 		JBrowse link
G Hdac5 histone deacetylase 5 ISO
IEP		 protein:increased expression:lung: RGD PMID:22711276, PMID:22711276 RGD:9590133, RGD:9590133 NCBI chr10:90,140,183...90,169,853
Ensembl chr10:90,140,183...90,151,042 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha IEP
ISO		 associated with Anoxia;protein:increased expression:pulmonary artery
CTD Direct Evidence: marker/mechanism		 CTD PMID:20110409, PMID:17213961, PMID:16215633 RGD:1601553, RGD:10395375 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052 		JBrowse link
G Hif3a hypoxia inducible factor 3 subunit alpha IEP RGD PMID:16215633 RGD:10395375 NCBI chr 1:78,976,318...78,997,869
Ensembl chr 1:78,976,318...78,997,869 		JBrowse link
G Hk1 hexokinase 1 IEP mRNA:increased expression:lung RGD PMID:25767292 RGD:11353880 NCBI chr20:31,911,460...31,979,780
Ensembl chr20:31,912,262...31,956,649 		JBrowse link
G Hmgb1 high mobility group box 1 treatment IMP RGD PMID:25032709 RGD:10402082 NCBI chr12:7,082,529...7,090,246
Ensembl chr16:37,500,017...37,502,237 		JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase IMP RGD PMID:12750068 RGD:5508701 NCBI chr 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654 		JBrowse link
G Hmox1 heme oxygenase 1 IEP
ISO
IDA		 RGD PMID:14970910, PMID:20957739, PMID:19409105 RGD:1582715, RGD:4145325, RGD:4145307 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456 		JBrowse link
G Hp haptoglobin treatment ISO protein:decreased expression:serum RGD PMID:2043024, PMID:25656991, PMID:19023114, PMID:19703762 RGD:1626353, RGD:11041794, RGD:5147440, RGD:5147420 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804 		JBrowse link
G Hpgd 15-hydroxyprostaglandin dehydrogenase ISO mRNA, protein:increased expression:lung RGD PMID:24657469 RGD:11667099 NCBI chr16:37,457,134...37,495,758
Ensembl chr16:37,457,135...37,495,758 		JBrowse link
G Htr2b 5-hydroxytryptamine receptor 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:14659797 NCBI chr 9:93,112,781...93,130,135
Ensembl chr 9:93,112,805...93,125,014 		JBrowse link
G Hyal1 hyaluronidase 1 IEP mRNA:decreased expression:lung RGD PMID:19915162 RGD:9588633 NCBI chr 8:116,332,834...116,337,522
Ensembl chr 8:116,332,796...116,335,435 		JBrowse link
G Hyal2 hyaluronidase 2 IEP mRNA:decreased expression:lung RGD PMID:19915162 RGD:9588633 NCBI chr 8:116,324,062...116,328,978
Ensembl chr 8:116,324,040...116,328,978 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO associated with Heart Defects, Congenital; protein:increased secretion:serum (human) RGD PMID:21034646 RGD:4145436 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059 		JBrowse link
G Id1 inhibitor of DNA binding 1, HLH protein IDA RGD PMID:20522807 RGD:9686087 NCBI chr 3:148,214,623...148,216,715
Ensembl chr 3:148,215,540...148,216,718 		JBrowse link
G Ifngr1 interferon gamma receptor 1 ISO mRNA: increased expression RGD PMID:20808962 RGD:4892610 NCBI chr 1:15,062,380...15,080,815
Ensembl chr 1:15,062,432...15,080,907 		JBrowse link
G Il10 interleukin 10 disease_progression ISO protein:increased expression:serum RGD PMID:20713898 RGD:4142530 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392 		JBrowse link
G Il13 interleukin 13 IEP
ISO		 associated with sclerosis; protein:increased expression:plasma
associated with Scleroderma, Limited;protein:increased expression:plasma		 RGD PMID:19799786, PMID:21425123 RGD:4145600, RGD:8549528 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466 		JBrowse link
G Il13ra1 interleukin 13 receptor subunit alpha 1 ISO RGD PMID:20671265, PMID:20808962 RGD:4892611, RGD:4892610 NCBI chr  X:122,724,081...122,783,801
Ensembl chr  X:122,724,129...122,781,479 		JBrowse link
G Il13ra2 interleukin 13 receptor subunit alpha 2 ISO mRNA:increased expression:lung RGD PMID:20522789 RGD:4892612 NCBI chr  X:118,443,955...118,514,716
Ensembl chr  X:118,443,823...118,513,061 		JBrowse link
G Il18 interleukin 18 ISO RGD PMID:17400729 RGD:4889590 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299 		JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:serum
associated with Scleroderma, Limited;protein:increased expression:serum		 RGD PMID:20713898, PMID:20808962 RGD:4142530, RGD:4892610 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO RGD PMID:7946395 RGD:4143197 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614 		JBrowse link
G Il23r interleukin 23 receptor ISO associated with Scleroderma, Systemic;DNA:SNPs: :rs11209026, rs11465804 (human) RGD PMID:19918037 RGD:5096624 NCBI chr 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173 		JBrowse link
G Il4 interleukin 4 ISO RGD PMID:20889544 RGD:5128515 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531 		JBrowse link
G Il6 interleukin 6 disease_progression ISO
IDA		 RGD PMID:20713898, PMID:20693255 RGD:4142530, RGD:4143246 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807 		JBrowse link
G Kcna5 potassium voltage-gated channel subfamily A member 5 ISO
IDA		 DNA:SNPs:promoter, cds
CTD Direct Evidence: marker/mechanism		 CTD PMID:27522126, PMID:17267549, PMID:20303989, PMID:17596340 RGD:1627654, RGD:7242752, RGD:1627651 NCBI chr 4:159,077,195...159,079,003
Ensembl chr 4:159,077,195...159,079,003 		JBrowse link
G Kcnk3 potassium two pore domain channel subfamily K member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30365877 NCBI chr 6:27,154,274...27,190,209
Ensembl chr 6:27,151,612...27,190,132 		JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28090300 NCBI chr15:344,204...1,048,849
Ensembl chr15:344,360...1,047,956 		JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30689673 NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221 		JBrowse link
G Lox lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614111 NCBI chr18:47,500,320...47,577,819
Ensembl chr18:47,500,330...47,577,819 		JBrowse link
G Mapk1 mitogen activated protein kinase 1 treatment ISO RGD PMID:25907942 RGD:13800893 NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254 		JBrowse link
G Mapk3 mitogen activated protein kinase 3 treatment ISO RGD PMID:25907942 RGD:13800893 NCBI chr 1:198,192,773...198,198,975
Ensembl chr 1:198,192,773...198,198,975 		JBrowse link
G Mfn1 mitofusin 1 IEP protein:decreased expression:heart right ventricle (rat) RGD PMID:27422986 RGD:12910832 NCBI chr 2:118,929,738...118,971,689
Ensembl chr 2:118,929,738...118,973,698 		JBrowse link
G Mif macrophage migration inhibitory factor ISO associated with sclerodema, systemic; protein:increased expression:serum RGD PMID:18618071 RGD:4891006 NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859 		JBrowse link
G Mir125a microRNA 125a treatment IDA RGD PMID:29700287 RGD:26884455 NCBI chr 1:59,704,827...59,704,911
Ensembl chr 1:59,704,827...59,704,911 		JBrowse link
G Mir204 microRNA 204 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26224795 NCBI chr 1:240,403,000...240,403,109
Ensembl chr 1:240,403,000...240,403,109 		JBrowse link
G Mir223 microRNA 223 treatment IEP
IDA
ISO		 Chronic Intermittent Hypoxia
RNA:decreased expression:lung, pulmonary aorta, pulmonary aorta smooth muscle		 RGD PMID:30246291, PMID:30507047, PMID:26084306, PMID:26084306 RGD:25823198, RGD:25824849, RGD:25824847, RGD:25824847 NCBI chr  X:65,367,812...65,367,921
Ensembl chr  X:65,367,812...65,367,921 		JBrowse link
G Mmp1 matrix metallopeptidase 1 IDA RGD PMID:23087098 RGD:7207217 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591 		JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO
IDA
IEP		 associated with Pulmonary Embolism;protein:increased expression:lung, plasma
associated with Heart Failure, Congestive;protein:decreased expression:monocyte		 RGD PMID:21063214, PMID:23087098, PMID:18355767, PMID:17133179, PMID:16867026 RGD:5129210, RGD:7207217, RGD:5130155, RGD:1642053, RGD:1642028 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520 		JBrowse link
G Mtor mechanistic target of rapamycin kinase IMP RGD PMID:23470622 RGD:10041039 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor treatment IDA RGD PMID:22306243 RGD:7240564 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240 		JBrowse link
G Nampt nicotinamide phosphoribosyltransferase susceptibility ISO
IEP		 mRNA,protein:increased expression:lung,pulmonary arterial endothelial cell:
protein:increased expression:lung:		 RGD PMID:28202489, PMID:28202489, PMID:28202489 RGD:13781882, RGD:13781882, RGD:13781882 NCBI chr 6:52,122,085...52,156,473
Ensembl chr 6:52,122,085...52,156,472 		JBrowse link
G Nfatc2 nuclear factor of activated T-cells 2 IMP
ISO		 CTD Direct Evidence: marker/mechanism CTD PMID:27522126, PMID:17596340 RGD:1627651 NCBI chr 3:165,241,750...165,374,644
Ensembl chr 3:165,245,238...165,360,292 		JBrowse link
G Nos2 nitric oxide synthase 2 onset ISO
IEP		 associated with Anoxia; mouse gene in rat model
associated with Anoxia; protein:increased expression:pulmonary artery
associated with Congenital diaphragmatic hernia; protein:decreased expression:pulmonary artery, endothelium
associated with heart disease; protein:increased expression:endothelial cell
associated with Scleroderma, Systemic; DNA:repeats, SNPs:promoter:(CCTTT), c.-1026C>T, c.-277A>G (human)		 RGD PMID:11104748, PMID:16113050, PMID:16456243, PMID:19912632, PMID:16813666 RGD:4891468, RGD:1580936, RGD:1580940, RGD:5132602, RGD:4891462 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190 		JBrowse link
G Nos3 nitric oxide synthase 3 treatment
susceptibility		 ISO
IDA
IEP
IMP		 DNA:polymorphism:cds:p.E298D (human)
CTD Direct Evidence: marker/mechanism
associated with Beta-Thalassemia;DNA:repeats:intron:
RNA:increased expression:lung
mRNA, protein:increased expression:pulmonary endothelial cell
associated with heart disease; protein:increased expression:endothelial cell
protein:increased expression:arteriole
associated with chronic obstructive pulmonary disease; DNA:polymorphism:cds:p.G894T (human)		 CTD PMID:21144100, PMID:21144100, PMID:29151278, PMID:25699607, PMID:11686901, PMID:20724942, PMID:19912632, PMID:21111729, PMID:19487814, PMID:20215577, PMID:17065228, PMID:18953956 RGD:4892009, RGD:13504742, RGD:11533642, RGD:5132631, RGD:4892004, RGD:5132602, RGD:4892010, RGD:4892039, RGD:4892038, RGD:4892043, RGD:4892042 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410 		JBrowse link
G Nox4 NADPH oxidase 4 ISO associated with Anoxia;mRNA, protein:increased expression:lung RGD PMID:18952568 RGD:4762683 NCBI chr 1:150,796,359...150,976,186
Ensembl chr 1:150,797,084...150,976,194 		JBrowse link
G Nppa natriuretic peptide A IDA RGD PMID:2136863 RGD:7247720 NCBI chr 5:164,808,407...164,809,716
Ensembl chr 5:164,808,323...164,809,705 		JBrowse link
G Nppb natriuretic peptide B severity IEP
ISO		 protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism		 CTD PMID:20408845 PMID:21351102, PMID:16936438, PMID:16893710 RGD:1642203, RGD:1642205 NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531 		JBrowse link
G Pde3a phosphodiesterase 3A IEP mRNA:increased expression:pulmonary artery RGD PMID:12466227 RGD:1582528 NCBI chr 4:175,431,904...175,703,844
Ensembl chr 4:175,431,904...175,700,238 		JBrowse link
G Pde5a phosphodiesterase 5A IMP RGD PMID:19881228 RGD:2314460 NCBI chr 2:226,899,604...227,044,916
Ensembl chr 2:226,900,619...227,041,576 		JBrowse link
G Pdgfa platelet derived growth factor subunit A IEP RGD PMID:8447423 RGD:1580847 NCBI chr12:17,734,141...17,756,186
Ensembl chr12:17,734,133...17,755,285 		JBrowse link
G Pdgfb platelet derived growth factor subunit B IEP
ISO		 RGD PMID:8447423, PMID:21819559, PMID:22523431 RGD:1580847, RGD:6482859, RGD:6482831 NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741 		JBrowse link
G Pdia3 protein disulfide isomerase family A, member 3 IEP protein:increased expression:lung: RGD PMID:23315792 RGD:9999167 NCBI chr 3:113,376,983...113,400,707
Ensembl chr 3:113,376,983...113,400,707 		JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 treatment IDA RGD PMID:22559233 RGD:10400914 NCBI chr10:94,850,971...94,913,202 JBrowse link
G Pgf placental growth factor ISO associated with Anemia, Sickle Cell;protein:increased expression:plasma
associated with Heart Defects, Congenital		 RGD PMID:20040765, PMID:20195855 RGD:6483588, RGD:6483610 NCBI chr 6:108,994,016...109,004,598
Ensembl chr 6:108,994,018...109,004,598 		JBrowse link
G Prkg1 protein kinase cGMP-dependent 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21351102 NCBI chr 1:248,982,039...250,300,952 JBrowse link
G Ptgis prostaglandin I2 synthase susceptibility IDA
IMP		 rat gene in a mouse model RGD PMID:15684702, PMID:10359560 RGD:1580695, RGD:727270 NCBI chr 3:163,950,746...163,986,129 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP
ISO		 anoxia associated; RGD PMID:18542928, PMID:19577709 RGD:2300276, RGD:5135495 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335 		JBrowse link
G Ptk2 protein tyrosine kinase 2 ISO RGD PMID:16244766 RGD:1581290 NCBI chr 7:114,436,419...114,611,317
Ensembl chr 7:114,437,361...114,590,119 		JBrowse link
G Ramp2 receptor activity modifying protein 2 IEP mRNA:increased expression:heart right ventricle RGD PMID:17437045 RGD:1642678 NCBI chr10:89,166,170...89,168,962
Ensembl chr10:89,166,890...89,168,965 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit IEP protein:altered localization:nucleus, blood vessel endothelial cell, lung RGD PMID:17934115 RGD:2298843 NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249 		JBrowse link
G Rhoa ras homolog family member A IEP protein:altered localization:membrane, artery, lung
protein:altered localization:pulmonary artery		 RGD PMID:18091588, PMID:16322374 RGD:2298877, RGD:1642819 NCBI chr 8:117,082,440...117,116,244
Ensembl chr 8:117,106,576...117,116,167 		JBrowse link
G Serpina1 serpin family A member 1 IDA
ISO		 protein:decreased expression:serum RGD PMID:1836309, PMID:17444595 RGD:1643154, RGD:1643144 NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265 		JBrowse link
G Serpine1 serpin family E member 1 treatment ISO
IDA		 mRNA, protein:decreased expression:lung
DNA:polymorphism:3'utr		 RGD PMID:18337154, PMID:27115515, PMID:20300292 RGD:4143529, RGD:11073610, RGD:4143527 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482 		JBrowse link
G Slc2a4 solute carrier family 2 member 4 IEP RGD PMID:19043358 RGD:2313622 NCBI chr10:56,552,921...56,558,562
Ensembl chr10:56,552,983...56,558,487 		JBrowse link
G Slc31a1 solute carrier family 31 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614111 NCBI chr 5:78,222,504...78,249,358
Ensembl chr 5:78,222,504...78,249,358 		JBrowse link
G Slc6a4 solute carrier family 6 member 4 onset
no_association
severity		 ISO
IDA
IMP		 DNA:repeat:promoter (human)
CTD Direct Evidence: marker/mechanism
associated with Heart Septal Defects, Ventricular;DNA:polymorphisms (human)
associated with Anoxia
DNA:polymorphism, repeat:promoter, intron (human)
associated with Pulmonary Disease, Chronic Obstructive;DNA:polymorphism (human)		 CTD PMID:18506000, PMID:16339917, PMID:19886858, PMID:11259539, PMID:19736308, PMID:16399993, PMID:19556740, PMID:19736308, PMID:19473340, PMID:18074800 RGD:4889442, RGD:4889430, RGD:4889445, RGD:4889432, RGD:4889440, RGD:4889434, RGD:4889432, RGD:4889435, RGD:4889437 NCBI chr10:63,153,656...63,188,377
Ensembl chr10:63,153,651...63,176,463 		JBrowse link
G Slc8a1 solute carrier family 8 member A1 ISO protein:increased expression:pulmonary artery, smooth muscle cell RGD PMID:17192285 RGD:1642711 NCBI chr 6:4,244,076...4,564,262
Ensembl chr 6:4,258,991...4,520,604 		JBrowse link
G Smad1 SMAD family member 1 IEP
IDA		 protein:decreased phosphorylation:lung, vascular associated smooth muscle cell
protein:decreased expression, increased phosphorylation:lung		 RGD PMID:17347486, PMID:18367643 RGD:1643222, RGD:12903274 NCBI chr19:32,182,942...32,248,694
Ensembl chr19:32,188,267...32,248,684 		JBrowse link
G Smad4 SMAD family member 4 IEP RGD PMID:17347486, PMID:18367643 RGD:1643222, RGD:12903274 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199 		JBrowse link
G Smad6 SMAD family member 6 IEP mRNA:decreased expression:lung RGD PMID:17347486 RGD:1643222 NCBI chr 8:68,897,746...68,967,221
Ensembl chr 8:68,898,296...68,966,108 		JBrowse link
G Smad7 SMAD family member 7 IEP RGD PMID:17347486 RGD:1643222 NCBI chr18:71,395,830...71,424,164
Ensembl chr18:71,395,830...71,424,157 		JBrowse link
G Smad9 SMAD family member 9 IEP RGD PMID:17347486 RGD:1643222 NCBI chr 2:143,951,725...144,002,025
Ensembl chr 2:144,191,846...144,212,138
Ensembl chr 2:144,191,846...144,212,138 		JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3 treatment IMP RGD PMID:19088082 RGD:10042965 NCBI chr19:38,237,963...38,321,572
Ensembl chr19:38,237,965...38,321,528 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20110409 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587 		JBrowse link
G Tac1 tachykinin, precursor 1 IMP RGD PMID:12662901 RGD:5147638 NCBI chr 4:33,638,853...33,646,819
Ensembl chr 4:33,638,709...33,646,819 		JBrowse link
G Tacr1 tachykinin receptor 1 IMP RGD PMID:12662901 RGD:5147638 NCBI chr 4:113,247,236...113,416,139
Ensembl chr 4:113,247,795...113,414,504 		JBrowse link
G Tacr2 tachykinin receptor 2 IMP RGD PMID:12662901 RGD:5147638 NCBI chr20:31,892,515...31,905,153
Ensembl chr20:31,892,515...31,905,153 		JBrowse link
G Tek TEK receptor tyrosine kinase ISO mRNA, protein:increased expression:lung RGD PMID:16917117 RGD:1601487 NCBI chr 5:113,725,717...113,852,799
Ensembl chr 5:113,725,717...113,852,799 		JBrowse link
G Tert telomerase reverse transcriptase treatment IEP
ISO		 RGD PMID:24376652, PMID:24376652 RGD:11038675, RGD:11038675 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476 		JBrowse link
G Tgfa transforming growth factor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18424623 NCBI chr 4:117,961,877...118,045,923
Ensembl chr 4:117,962,319...118,046,344 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 onset ISO DNA:SNPs: :multiple (human)
protein:increased expression:blood		 RGD PMID:18496036, PMID:19324949 RGD:4145273, RGD:4145138 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 IMP RGD PMID:18202349 RGD:2302019 NCBI chr 5:63,056,071...63,119,635
Ensembl chr 5:63,050,758...63,119,635 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 IEP mRNA:decreased expression:lung RGD PMID:17392319 RGD:1601116 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494 		JBrowse link
G Thbd thrombomodulin ISO associated with Mixed Connective Tissue Disease RGD PMID:16784493 RGD:1601639 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325 		JBrowse link
G Thpo thrombopoietin ISO protein:increased expression:pulmonary artery, plasma RGD PMID:12487786 RGD:1580087 NCBI chr11:82,845,676...82,853,439
Ensembl chr11:83,868,655...83,873,910
Ensembl chr11:83,868,655...83,873,910 		JBrowse link
G Tlr4 toll-like receptor 4 ISO associated anoxia RGD PMID:20205596 RGD:4144108 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052 		JBrowse link
G Tnc tenascin C severity ISO
IEP
IDA		 protein:increased expression:plasma RGD PMID:20528622, PMID:19288153, PMID:15879421, PMID:16782755 RGD:4889562, RGD:4889564, RGD:4889570, RGD:4889567 NCBI chr 5:79,789,686...79,874,555
Ensembl chr 5:79,789,671...79,874,671 		JBrowse link
G Tnf tumor necrosis factor ISO associated with pulmonary disease, chronic obstructive; protein:increased expression:serum
CTD Direct Evidence: therapeutic
associated with Pulmonary Edema; protein:increased expression:Bronchoalveolar Lavage Fluid		 CTD PMID:2518282, PMID:16899829, PMID:9628235, PMID:12391106 RGD:4143280, RGD:4142833, RGD:4143422 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 		JBrowse link
G Tp53 tumor protein p53 treatment ISO RGD PMID:24334871 RGD:10043360 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449 		JBrowse link
G Tp53bp1 tumor protein p53 binding protein 1 ISO protein:increased expression:lung RGD PMID:24270264 RGD:9586752 NCBI chr 3:113,160,030...113,259,701
Ensembl chr 3:113,160,000...113,231,790 		JBrowse link
G Tph1 tryptophan hydroxylase 1 severity ISO CTD Direct Evidence: marker/mechanism CTD PMID:18506000, PMID:17675372 RGD:5686352 NCBI chr 1:102,669,868...102,699,442
Ensembl chr 1:102,669,868...102,699,442 		JBrowse link
G Tph2 tryptophan hydroxylase 2 severity ISO DNA:SNP: :1473C>G (mouse) RGD PMID:17675372 RGD:5686352 NCBI chr 7:58,042,279...58,149,220
Ensembl chr 7:58,042,281...58,149,061 		JBrowse link
G Trpc3 transient receptor potential cation channel, subfamily C, member 3 ISO RGD PMID:15358862 RGD:1580490 NCBI chr 2:123,329,954...123,467,574
Ensembl chr 2:123,329,875...123,407,496 		JBrowse link
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 ISO RGD PMID:15358862 RGD:1580490 NCBI chr 8:6,811,543...6,917,534
Ensembl chr 8:6,811,543...6,917,535 		JBrowse link
G Twist1 twist family bHLH transcription factor 1 treatment IEP RGD PMID:25593290 RGD:38500244 NCBI chr 6:53,401,241...53,403,235
Ensembl chr 6:53,401,109...53,403,214 		JBrowse link
G Uts2 urotensin 2 IEP RGD PMID:15042392 RGD:2306848 NCBI chr 5:168,078,748...168,084,133
Ensembl chr 5:168,078,748...168,084,145 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 IEP protein:increased expression:blood vessel endothelium RGD PMID:17934115 RGD:2298843 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619 		JBrowse link
G Vegfb vascular endothelial growth factor B ISO RGD PMID:12547729 RGD:1625708 NCBI chr 1:222,237,000...222,242,786
Ensembl chr 1:222,239,022...222,242,644 		JBrowse link
G Vim vimentin IEP protein:increased expression, increased phosphorylation:lung RGD PMID:25593290 RGD:38500244 NCBI chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212 		JBrowse link
G Vip vasoactive intestinal peptide IDA RGD PMID:22140628 RGD:5685374 NCBI chr 1:42,169,307...42,177,582
Ensembl chr 1:42,169,501...42,177,582 		JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:14507115 RGD:1580645 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523 		JBrowse link
Dursun Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pc3 glucose 6 phosphatase catalytic subunit 3 ISO ClinVar Annotator: match by term: Dursun syndrome ClinVar PMID:19011569 PMID:20799326 PMID:25741868 NCBI chr10:90,134,193...90,138,425
Ensembl chr10:90,134,193...90,138,425 		JBrowse link
HUPRA Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sars2 seryl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME
ClinVar Annotator: match by OMIM:613845		 OMIM
ClinVar		 PMID:21255763 PMID:24034276 PMID:28492532 NCBI chr 1:86,923,769...86,935,506
Ensembl chr 1:86,923,591...86,935,904 		JBrowse link
Neonatal Pulmonary Hypertension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cps1 carbamoyl-phosphate synthase 1 susceptibility ISO ClinVar Annotator: match by term: Pulmonary hypertension, neonatal, susceptibility to
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:11407344 PMID:14718356 PMID:15465784 PMID:16708072 PMID:17310273 PMID:20154341 PMID:21120950 PMID:21767969 PMID:25741868 PMID:28492532 NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274 		JBrowse link
persistent fetal circulation syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adad2 adenosine deaminase domain containing 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,258,908...52,263,031
Ensembl chr19:52,258,947...52,262,959 		JBrowse link
G Atp2c2 ATPase secretory pathway Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,347,480...52,404,608
Ensembl chr19:52,347,580...52,404,607 		JBrowse link
G Cibar2 CBY1 interacting BAR domain containing 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:53,740,763...53,754,738
Ensembl chr19:53,743,383...53,754,602 		JBrowse link
G Cotl1 coactosin-like F-actin binding protein 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,465,074...52,499,433
Ensembl chr19:52,465,087...52,499,433 		JBrowse link
G Cox4i1 cytochrome c oxidase subunit 4i1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:54,245,958...54,252,198
Ensembl chr19:54,245,950...54,252,225 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO CACD, OMIM:265380, DNA:polymorphism:T1405N
CTD Direct Evidence: marker/mechanism		 CTD PMID:11407344, PMID:11407344 RGD:1600716 NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274 		JBrowse link
G Crispld2 cysteine-rich secretory protein LCCL domain containing 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,647,038...52,705,118
Ensembl chr19:52,647,070...52,705,131 		JBrowse link
G Dnaaf1 dynein, axonemal, assembly factor 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,217,427...52,245,930
Ensembl chr19:52,217,984...52,245,929 		JBrowse link
G Emc8 ER membrane protein complex subunit 8 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:54,235,949...54,245,810
Ensembl chr19:54,235,936...54,245,855 		JBrowse link
G Fendrr FOXF1 adjacent non-coding developmental regulatory RNA ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar PMID:25741868 NCBI chr19:52,991,283...53,010,509 JBrowse link
G Foxf1 forkhead box F1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome
ClinVar Annotator: match by OMIM:265380		 OMIM
ClinVar		 PMID:15520767 PMID:19500772 PMID:23505205 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30380203 NCBI chr19:53,012,306...53,016,100
Ensembl chr19:53,012,332...53,016,086 		JBrowse link
G Gins2 GINS complex subunit 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:54,151,048...54,163,701
Ensembl chr19:54,151,048...54,163,608 		JBrowse link
G Gse1 Gse1 coiled-coil protein ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:53,799,945...54,153,732
Ensembl chr19:54,060,622...54,148,970 		JBrowse link
G Hsdl1 hydroxysteroid dehydrogenase like 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,209,403...52,225,486
Ensembl chr19:52,210,859...52,217,728 		JBrowse link
G Irf8 interferon regulatory factor 8 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:54,314,859...54,336,643
Ensembl chr19:54,314,865...54,336,640 		JBrowse link
G Kcng4 potassium voltage-gated channel modifier subfamily G member 4 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,270,907...52,283,317
Ensembl chr19:52,270,927...52,282,877 		JBrowse link
G Klhl36 kelch-like family member 36 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,515,022...52,536,055
Ensembl chr19:52,515,022...52,536,476 		JBrowse link
G Mbtps1 membrane-bound transcription factor peptidase, site 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,146,507...52,206,310
Ensembl chr19:52,146,808...52,206,310 		JBrowse link
G Meak7 MTOR associated protein, eak-7 homolog ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,408,700...52,430,198
Ensembl chr19:52,408,917...52,424,318 		JBrowse link
G Mlycd malonyl-CoA decarboxylase ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,032,950...52,048,773
Ensembl chr19:52,032,886...52,048,753 		JBrowse link
G Necab2 N-terminal EF-hand calcium binding protein 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,086,325...52,112,633
Ensembl chr19:52,086,325...52,112,629 		JBrowse link
G Nos3 nitric oxide synthase 3 ISS OMIM:265380 MouseDO NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410 		JBrowse link
G Osgin1 oxidative stress induced growth inhibitor 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,056,808...52,085,491
Ensembl chr19:52,077,109...52,085,496 		JBrowse link
G Pten phosphatase and tensin homolog ISS OMIM:265380 MouseDO NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832 		JBrowse link
G RGD1304884 similar to RIKEN cDNA 6430548M08 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,763,352...53,742,184
Ensembl chr19:53,723,822...53,740,329 		JBrowse link
G RGD1309651 similar to 1190005I06Rik protein ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:54,184,554...54,210,872
Ensembl chr19:54,184,946...54,210,515 		JBrowse link
G Slc38a8 solute carrier family 38, member 8 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,110,517...52,142,500
Ensembl chr19:52,119,992...52,139,633 		JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17273977 NCBI chr 8:62,925,364...62,944,438
Ensembl chr 8:62,925,357...62,944,437 		JBrowse link
G Taf1c TATA-box binding protein associated factor, RNA polymerase 1 subunit C ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,246,061...52,252,642
Ensembl chr19:52,246,068...52,252,587 		JBrowse link
G Usp10 ubiquitin specific peptidase 10 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,566,274...52,608,820
Ensembl chr19:52,566,607...52,608,817 		JBrowse link
G Wfdc1 WAP four-disulfide core domain 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,313,771...52,332,721
Ensembl chr19:52,313,795...52,332,697 		JBrowse link
G Zdhhc7 zinc finger DHHC-type palmitoyltransferase 7 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,733,161...52,750,307
Ensembl chr19:52,733,161...52,750,307 		JBrowse link
primary pulmonary hypertension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adora2a adenosine A2a receptor ISS OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 MouseDO NCBI chr20:14,265,251...14,282,873
Ensembl chr20:14,265,252...14,282,873 		JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pulmonary hypertension, primary, dexfenfluramine-associated
ClinVar Annotator: match by term: Pulmonary hypertension, primary, fenfluramine-associated
ClinVar Annotator: match by term: Idiopathic and/or familial pulmonary arterial hypertension		 CTD
ClinVar		 PMID:11015450 PMID:11115378 PMID:12358323 PMID:16429395 PMID:16429403 PMID:16717148 PMID:16728714 PMID:19324947 PMID:19555857 PMID:20096498 PMID:20534176 PMID:21801371 PMID:24033266 PMID:25460361 PMID:25741868 PMID:26387786 PMID:26820968 PMID:28492532 PMID:32581362 NCBI chr 9:66,568,074...66,683,019
Ensembl chr 9:66,568,074...66,676,494 		JBrowse link
G Cav1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200 		JBrowse link
G Foxf1 forkhead box F1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:19500772 PMID:19592680 PMID:19812545 PMID:20425831 PMID:22766610 PMID:23034409 PMID:23074687 PMID:23335808 PMID:23505205 PMID:23943206 PMID:24033266 PMID:24842713 PMID:26462560 NCBI chr19:53,012,306...53,016,100
Ensembl chr19:53,012,332...53,016,086 		JBrowse link
G Hdac1 histone deacetylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22711276 NCBI chr 5:147,716,664...147,743,723
Ensembl chr 5:147,716,664...147,743,723 		JBrowse link
G Hdac4 histone deacetylase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22711276 NCBI chr 9:99,052,945...99,299,715
Ensembl chr 9:99,057,089...99,299,715 		JBrowse link
G Hdac5 histone deacetylase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22711276 NCBI chr10:90,140,183...90,169,853
Ensembl chr10:90,140,183...90,151,042 		JBrowse link
G Id1 inhibitor of DNA binding 1, HLH protein ISO protein:decreased expression:lung, wall of arteriole (human) RGD PMID:20522807 RGD:9686087 NCBI chr 3:148,214,623...148,216,715
Ensembl chr 3:148,215,540...148,216,718 		JBrowse link
G Kcnk3 potassium two pore domain channel subfamily K member 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:27,154,274...27,190,209
Ensembl chr 6:27,151,612...27,190,132 		JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISS OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 MouseDO NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380 		JBrowse link
G Smad9 SMAD family member 9 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:143,951,725...144,002,025
Ensembl chr 2:144,191,846...144,212,138
Ensembl chr 2:144,191,846...144,212,138 		JBrowse link
G Tnfsf4 TNF superfamily member 4 ISS OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 MouseDO NCBI chr13:79,269,973...79,293,775
Ensembl chr13:79,269,973...79,293,778 		JBrowse link
G Vip vasoactive intestinal peptide ISS OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 MouseDO NCBI chr 1:42,169,307...42,177,582
Ensembl chr 1:42,169,501...42,177,582 		JBrowse link
Primary Pulmonary Hypertension, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvrl1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1 ClinVar PMID:9245985 PMID:12700602 PMID:14684682 PMID:15024723 PMID:15879500 PMID:15880681 PMID:16429404 PMID:16470787 PMID:16540754 PMID:16705692 PMID:18159113 PMID:19555857 PMID:20414677 PMID:20501893 PMID:21158752 PMID:22632830 PMID:23298310 PMID:23722869 PMID:24753439 PMID:25741868 PMID:26387786 PMID:27316748 PMID:28492532 PMID:29449337 PMID:32581362 NCBI chr 7:142,769,942...142,787,336
Ensembl chr 7:142,776,252...142,787,335 		JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia
ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1		 ClinVar
OMIM		 PMID:3291115 PMID:10903931 PMID:10973254 PMID:11015450 PMID:11115378 PMID:11502704 PMID:12045205 PMID:12139571 PMID:12358323 PMID:12446270 PMID:12821254 PMID:14516151 PMID:14583445 PMID:14985116 PMID:15055271 PMID:15059534 PMID:15146475 PMID:15170098 PMID:15358693 PMID:15591269 PMID:15687131 PMID:15775752 PMID:15965979 PMID:16429395 PMID:16429403 PMID:16717148 PMID:16728714 PMID:18159113 PMID:18221724 PMID:18356561 PMID:18364108 PMID:18386374 PMID:18503968 PMID:18792970 PMID:19206171 PMID:19223935 PMID:19324947 PMID:19555857 PMID:19844076 PMID:20002458 PMID:20095988 PMID:20096498 PMID:20496075 PMID:20534176 PMID:21070126 PMID:21228398 PMID:21737554 PMID:21801371 PMID:22632830 PMID:22995991 PMID:23139147 PMID:23298310 PMID:23579436 PMID:23592887 PMID:23675998 PMID:24033266 PMID:24591673 PMID:24853021 PMID:24936649 PMID:25429696 PMID:25612240 PMID:25688877 PMID:25741868 PMID:25917481 PMID:26387786 PMID:27453251 PMID:27630060 PMID:27884767 PMID:28388887 PMID:28492532 PMID:28507310 PMID:29631995 PMID:29650961 PMID:29743074 PMID:29843651 PMID:30029678 PMID:30578397 PMID:32581362 NCBI chr 9:66,568,074...66,683,019
Ensembl chr 9:66,568,074...66,676,494 		JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1 ClinVar PMID:18498373 PMID:23298310 PMID:24033266 PMID:25741868 PMID:26167679 PMID:26387786 PMID:28492532 PMID:30029678 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485 		JBrowse link
G Kcna5 potassium voltage-gated channel subfamily A member 5 ISO ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1 ClinVar PMID:20018952 PMID:21685056 PMID:23861362 PMID:24068186 PMID:25076992 PMID:28492532 NCBI chr 4:159,077,195...159,079,003
Ensembl chr 4:159,077,195...159,079,003 		JBrowse link
G Kcnk3 potassium two pore domain channel subfamily K member 3 ISO ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1 ClinVar PMID:23883380 NCBI chr 6:27,154,274...27,190,209
Ensembl chr 6:27,151,612...27,190,132 		JBrowse link
G Nop58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1 ClinVar PMID:23579436 PMID:26387786 NCBI chr 9:66,495,881...66,520,521
Ensembl chr 9:66,495,832...66,519,788 		JBrowse link
G Smad1 SMAD family member 1 ISO ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1 ClinVar PMID:21898662 PMID:26387786 NCBI chr19:32,182,942...32,248,694
Ensembl chr19:32,188,267...32,248,684 		JBrowse link
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1 ClinVar PMID:21898662 PMID:24728327 PMID:25502805 PMID:25741868 PMID:26387786 PMID:28492532 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199 		JBrowse link
G Smad9 SMAD family member 9 ISO ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1 ClinVar NCBI chr 2:143,951,725...144,002,025
Ensembl chr 2:144,191,846...144,212,138
Ensembl chr 2:144,191,846...144,212,138 		JBrowse link
G Tbx4 T-box transcription factor 4 ISO ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1 ClinVar PMID:25741868 PMID:31151956 NCBI chr10:73,331,864...73,362,784
Ensembl chr10:73,333,119...73,362,783 		JBrowse link
Primary Pulmonary Hypertension, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad9 SMAD family member 9 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension 2 OMIM
ClinVar		 PMID:19211612 PMID:21898662 PMID:21920918 PMID:24033266 PMID:28492532 NCBI chr 2:143,951,725...144,002,025
Ensembl chr 2:144,191,846...144,212,138
Ensembl chr 2:144,191,846...144,212,138 		JBrowse link
Primary Pulmonary Hypertension, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr1b bone morphogenetic protein receptor type 1B ISO ClinVar Annotator: match by term: Primary pulmonary hypertension 3 ClinVar PMID:25741868 NCBI chr 2:247,392,195...247,662,026
Ensembl chr 2:247,403,920...247,446,882 		JBrowse link
G Cav1 caveolin 1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension 3
ClinVar Annotator: match by OMIM:615343		 OMIM
ClinVar		 PMID:22474227 PMID:25741868 PMID:26387786 PMID:28492532 PMID:29231014 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200 		JBrowse link
Primary Pulmonary Hypertension, 4 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 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension 4
ClinVar Annotator: match by OMIM:615344		 OMIM
ClinVar		 PMID:23883380 PMID:25741868 PMID:26387786 PMID:28492532 NCBI chr 6:27,154,274...27,190,209
Ensembl chr 6:27,151,612...27,190,132 		JBrowse link
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 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:15976379 PMID:17597647 PMID:18246475 PMID:18317237 PMID:18603241 PMID:18676873 PMID:22145626 PMID:22304854 PMID:22434821 PMID:22435821 PMID:22800827 PMID:22866751 PMID:23166334 PMID:24033266 PMID:24136335 PMID:24871971 PMID:25073622 PMID:25553246 PMID:25741868 PMID:27374344 PMID:29505158 NCBI chr10:13,723,365...13,780,558
Ensembl chr10:13,723,405...13,779,963 		JBrowse link
G Abi2 abl-interactor 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:67,234,612...67,284,504
Ensembl chr 9:67,234,303...67,282,600 		JBrowse link
G Acvrl1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:11484689 PMID:15687131 PMID:16470787 PMID:16540754 PMID:16752392 PMID:17786384 PMID:18159113 PMID:18498373 PMID:18673552 PMID:19767588 PMID:20056902 PMID:20501893 PMID:21378382 PMID:22632830 PMID:23298310 PMID:23919827 PMID:24753439 PMID:25741868 PMID:26387786 PMID:28492532 PMID:29650961 PMID:32581362 NCBI chr 7:142,769,942...142,787,336
Ensembl chr 7:142,776,252...142,787,335 		JBrowse link
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:65,961,361...66,034,396
Ensembl chr 9:65,961,346...66,033,871 		JBrowse link
G Aox1 aldehyde oxidase 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:64,929,682...65,007,872
Ensembl chr 9:64,929,721...65,007,870 		JBrowse link
G Bmpr1a bone morphogenetic protein receptor type 1A ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease ClinVar PMID:25741868 PMID:28492532 PMID:30029678 NCBI chr16:10,758,278...10,852,170
Ensembl chr16:10,758,527...10,802,512 		JBrowse link
G Bmpr1b bone morphogenetic protein receptor type 1B ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease ClinVar PMID:25741868 PMID:30029678 NCBI chr 2:247,392,195...247,662,026
Ensembl chr 2:247,403,920...247,446,882 		JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:3291115 PMID:10903931 PMID:10973254 PMID:11015450 PMID:11115378 PMID:11502704 PMID:12358323 PMID:12821254 PMID:14985116 PMID:15059534 PMID:15146475 PMID:15358693 PMID:15591269 PMID:15965979 PMID:16429395 PMID:16717148 PMID:18159113 PMID:18356561 PMID:18503968 PMID:19555857 PMID:20002458 PMID:20096498 PMID:20534176 PMID:21737554 PMID:21801371 PMID:23298310 PMID:23579436 PMID:23592887 PMID:23675998 PMID:24591673 PMID:25429696 PMID:25612240 PMID:25741868 PMID:26387786 PMID:28415675 PMID:28492532 PMID:29843651 PMID:30029678 PMID:30578397 PMID:32581362 NCBI chr 9:66,568,074...66,683,019
Ensembl chr 9:66,568,074...66,676,494 		JBrowse link
G Bzw1 basic leucine zipper and W2 domains 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:65,279,675...65,293,471
Ensembl chr 9:65,279,675...65,291,651 		JBrowse link
G C2cd6 C2 calcium dependent domain containing 6 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:65,817,039...65,879,564
Ensembl chr 9:65,833,460...65,879,521 		JBrowse link
G Carf calcium responsive transcription factor ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:66,878,526...66,928,658
Ensembl chr 9:66,888,393...66,926,377 		JBrowse link
G Casp8 caspase 8 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106 		JBrowse link
G Cav1 caveolin 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease ClinVar PMID:25741868 PMID:30029678 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200 		JBrowse link
G Cd28 Cd28 molecule ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:67,546,408...67,573,858
Ensembl chr 9:67,546,408...67,571,871 		JBrowse link
G Cdh2 cadherin 2 ISO mRNA:increased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chr18:8,146,971...8,366,037
Ensembl chr18:8,146,971...8,360,684 		JBrowse link
G Cdk15 cyclin-dependent kinase 15 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:66,059,765...66,153,729
Ensembl chr 9:66,058,047...66,148,087 		JBrowse link
G Cflar CASP8 and FADD-like apoptosis regulator ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:65,534,608...65,586,395
Ensembl chr 9:65,534,704...65,587,251 		JBrowse link
G Clk1 CDC-like kinase 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:65,296,777...65,308,017
Ensembl chr 9:65,296,778...65,307,995 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065 		JBrowse link
G Ctnnd1 catenin delta 1 ISO protein:decreased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chr 3:72,001,904...72,053,047
Ensembl chr 3:72,002,152...72,053,049 		JBrowse link
G Cyp20a1 cytochrome P450, family 20, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:67,130,222...67,179,693
Ensembl chr 9:67,130,259...67,179,692 		JBrowse link
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 3:110,159,624...110,245,382
Ensembl chr 3:110,159,708...110,249,217 		JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease		 ClinVar PMID:10625079 PMID:12673790 PMID:15517393 PMID:15521985 PMID:16705692 PMID:18498373 PMID:19270816 PMID:21158752 PMID:22991266 PMID:23298310 PMID:23722869 PMID:24033266 PMID:25741868 PMID:26167679 PMID:26387786 PMID:28492532 PMID:30029678 PMID:32573726 PMID:32581362 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485 		JBrowse link
G Fam117b family with sequence similarity 117, member B ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:66,716,969...66,784,487
Ensembl chr 9:66,716,969...66,784,487 		JBrowse link
G Fam126b family with sequence similarity 126, member B ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:65,406,136...65,478,399
Ensembl chr 9:65,406,138...65,442,257 		JBrowse link
G Flacc1 flagellum associated containing coiled-coil domains 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:65,665,663...65,693,822
Ensembl chr 9:65,665,664...65,693,822 		JBrowse link
G Fzd7 frizzled class receptor 7 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:66,305,731...66,308,550
Ensembl chr 9:66,305,731...66,308,550 		JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277 		JBrowse link
G Hydin Hydin, axonemal central pair apparatus protein ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr19:41,036,507...41,379,634
Ensembl chr19:41,036,510...41,379,588 		JBrowse link
G Ica1l islet cell autoantigen 1-like ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:66,788,094...66,848,958
Ensembl chr 9:66,790,047...66,845,403 		JBrowse link
G Icos inducible T-cell co-stimulator ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:67,748,157...67,786,808
Ensembl chr 9:67,763,897...67,785,580 		JBrowse link
G Itga5 integrin subunit alpha 5 ISO mRNA:increased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chr 7:144,970,444...144,993,652
Ensembl chr 7:144,970,444...144,993,652 		JBrowse link
G Kcnk3 potassium two pore domain channel subfamily K member 3 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 6:27,154,274...27,190,209
Ensembl chr 6:27,151,612...27,190,132 		JBrowse link
G Kctd18 potassium channel tetramerization domain containing 18 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:64,849,547...64,916,652
Ensembl chr 9:64,852,289...64,916,652 		JBrowse link
G Mpp4 membrane palmitoylated protein 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:65,917,917...65,961,274
Ensembl chr 9:65,917,917...65,957,101 		JBrowse link
G Nbeal1 neurobeachin-like 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:66,951,354...67,113,395
Ensembl chr 9:66,952,720...67,110,693 		JBrowse link
G Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:65,478,496...65,488,708
Ensembl chr 9:65,478,496...65,488,702 		JBrowse link
G Nif3l1 NGG1 interacting factor 3 like 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:65,329,143...65,349,280
Ensembl chr 9:65,331,290...65,349,141 		JBrowse link
G Nop58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:66,495,881...66,520,521
Ensembl chr 9:66,495,832...66,519,788 		JBrowse link
G Orc2 origin recognition complex, subunit 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:65,350,630...65,387,293
Ensembl chr 9:65,350,627...65,387,169 		JBrowse link
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr  X:158,698,353...158,739,855
Ensembl chr  X:158,698,356...158,739,838
Ensembl chr  X:158,698,356...158,739,838 		JBrowse link
G Pms2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:16144131 PMID:16283678 PMID:18602922 PMID:19283792 PMID:20205264 PMID:21239990 PMID:22658618 PMID:23012243 PMID:24033266 PMID:25525159 PMID:25637381 PMID:25741868 PMID:26467025 PMID:26895986 PMID:28492532 PMID:29489754 NCBI chr12:12,714,394...12,738,654
Ensembl chr12:12,714,394...12,738,641 		JBrowse link
G Ppil3 peptidylprolyl isomerase like 3 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:65,315,407...65,329,145
Ensembl chr 9:65,315,410...65,329,066 		JBrowse link
G Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:67,290,004...67,370,208
Ensembl chr 9:67,293,309...67,341,341 		JBrowse link
G Sgo2 shugoshin 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:64,898,380...64,923,023
Ensembl chr 9:64,898,459...64,923,012 		JBrowse link
G Smad9 SMAD family member 9 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease ClinVar PMID:25741868 PMID:30029678 NCBI chr 2:143,951,725...144,002,025
Ensembl chr 2:144,191,846...144,212,138
Ensembl chr 2:144,191,846...144,212,138 		JBrowse link
G Sod2 superoxide dismutase 2 IEP
ISO		 protein:decreased expression:pulmonary artery
protein:decreased expression:small pulmonary artery		 RGD PMID:20529999, PMID:20529999 RGD:27095884, RGD:27095884 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587 		JBrowse link
G Spats2l spermatogenesis associated, serine-rich 2-like ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:64,643,223...64,843,963
Ensembl chr 9:64,643,281...64,843,960 		JBrowse link
G Stradb STE20 related adaptor beta ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:65,763,437...65,782,513
Ensembl chr 9:65,763,437...65,782,513 		JBrowse link
G Sumo1 small ubiquitin-like modifier 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:66,453,428...66,483,614
Ensembl chr 9:66,453,438...66,483,614 		JBrowse link
G Tbx4 T-box transcription factor 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease ClinVar PMID:25741868 PMID:30029678 PMID:32581362 PMID:32860008 NCBI chr10:73,331,864...73,362,784
Ensembl chr10:73,333,119...73,362,783 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO mRNA:increased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chr 5:63,056,071...63,119,635
Ensembl chr 5:63,050,758...63,119,635 		JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:65,882,063...65,917,424
Ensembl chr 9:65,882,054...65,917,132 		JBrowse link
G Trak2 trafficking kinesin protein 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:65,698,706...65,763,351
Ensembl chr 9:65,698,712...65,763,273 		JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO mRNA, protein:increased expression: pulmonary artery,lung: RGD PMID:25593290 RGD:38500244 NCBI chr 6:53,401,241...53,403,235
Ensembl chr 6:53,401,109...53,403,214 		JBrowse link
G Vim vimentin ISO protein:increased phosphorylation:lung RGD PMID:25593290 RGD:38500244 NCBI chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212 		JBrowse link
G Wdr12 WD repeat domain 12 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:66,851,499...66,878,534
Ensembl chr 9:66,851,940...66,877,972 		JBrowse link
Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvrl1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED ClinVar PMID:8640225 PMID:9245985 PMID:10767348 PMID:11170071 PMID:11484689 PMID:12114496 PMID:12700602 PMID:12843319 PMID:14684682 PMID:15024723 PMID:15065824 PMID:15375013 PMID:15517393 PMID:15687131 PMID:15712271 PMID:15880681 PMID:16123970 PMID:16282348 PMID:16429404 PMID:16470787 PMID:16540754 PMID:16542389 PMID:16690726 PMID:16705692 PMID:16706966 PMID:17384219 PMID:17786384 PMID:18159113 PMID:18285823 PMID:18498373 PMID:18673552 PMID:19357124 PMID:20056902 PMID:20414677 PMID:20501893 PMID:21158752 PMID:21378382 PMID:21651515 PMID:22377182 PMID:22553411 PMID:22632830 PMID:22991266 PMID:23124896 PMID:23298310 PMID:23722869 PMID:23805858 PMID:23919827 PMID:24196379 PMID:25318803 PMID:25326635 PMID:25741868 PMID:25970827 PMID:26176610 PMID:26387786 PMID:28492532 PMID:32165824 PMID:32573726 PMID:32581362 NCBI chr 7:142,769,942...142,787,336
Ensembl chr 7:142,776,252...142,787,335 		JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED ClinVar PMID:14684682 PMID:15024723 PMID:15115879 PMID:15687131 PMID:18156574 PMID:23919827 PMID:25741868 PMID:26387786 PMID:28492532 PMID:32573726 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485 		JBrowse link
Pulmonary Edema of Mountaineers term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm1l dynamin 1-like IEP mRNA:increased expression:lung (rat) RGD PMID:23517027 RGD:12738217 NCBI chr11:88,830,968...88,882,271
Ensembl chr11:88,830,957...88,880,198 		JBrowse link
G Fis1 fission, mitochondrial 1 IEP mRNA:increased expression:lung (rat) RGD PMID:23517027 RGD:12738217 NCBI chr12:22,750,485...22,765,324
Ensembl chr12:22,750,485...22,765,308 		JBrowse link
G Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25373139 NCBI chr 2:181,045,694...181,103,321
Ensembl chr 2:181,045,703...181,102,918 		JBrowse link
G Hmox1 heme oxygenase 1 IEP protein:increased expression:lung RGD PMID:21296072 RGD:10755745 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456 		JBrowse link
G Mfn2 mitofusin 2 IEP mRNA:decreased expression:lung (rat) RGD PMID:23517027 RGD:12738217 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145 		JBrowse link
Pulmonary Hypertension, Hypoxia-Induced term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Egfr epidermal growth factor receptor treatment IMP RGD PMID:31264901 RGD:38599217 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796 		JBrowse link
G Egln1 egl-9 family hypoxia-inducible factor 1 IEP RGD PMID:16761101 RGD:11252085 NCBI chr19:57,660,194...57,701,158
Ensembl chr19:57,662,278...57,699,113 		JBrowse link
G Egln3 egl-9 family hypoxia-inducible factor 3 IEP RGD PMID:16761101 RGD:11252085 NCBI chr 6:75,050,329...75,075,795
Ensembl chr 6:75,050,329...75,075,795 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase treatment IMP RGD PMID:25063801 RGD:10449119 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926 		JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 IEP mRNA:decreased expression:lung (rat) RGD PMID:19823174 RGD:4145499 NCBI chr 1:263,246,248...263,269,762
Ensembl chr 1:263,246,248...263,269,762 		JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 IEP mRNA:decreased expression:lung (rat) RGD PMID:19823174 RGD:4145499 NCBI chr19:9,587,637...9,613,323
Ensembl chr19:9,587,653...9,613,340 		JBrowse link
G Hpgd 15-hydroxyprostaglandin dehydrogenase IEP mRNA, protein:increased expression:lung RGD PMID:24657469 RGD:11667099 NCBI chr16:37,457,134...37,495,758
Ensembl chr16:37,457,135...37,495,758 		JBrowse link
G Mfn2 mitofusin 2 IEP mRNA, protein:decreased expression:lung (rat) RGD PMID:26485208 RGD:12910856 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145 		JBrowse link
G Nog noggin IEP mRNA,protein:decreased expression:lung: RGD PMID:25740156 RGD:12801489 NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386 		JBrowse link
G Nos3 nitric oxide synthase 3 IEP mRNA,protein:increased expression:pulmonary artery RGD PMID:9950873 RGD:11533933 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410 		JBrowse link
G Slc39a12 solute carrier family 39 member 12 severity IMP RGD PMID:26258299, PMID:26258299 RGD:10401832, RGD:10401832 NCBI chr17:81,455,731...81,541,742
Ensembl chr17:81,455,955...81,541,759 		JBrowse link
G Slc39a12em77Tja solute carrier family 39 (zinc transporter), member 12; zinc finger nuclease induced mutant 77, Timothy J. Aitman severity IMP RGD PMID:26258299, PMID:26258299 RGD:10401832, RGD:10401832
pulmonary venoocclusive disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atf4 activating transcription factor 4 IEP protein:increased expression:lung RGD PMID:32209028 RGD:38549370 NCBI chr 7:121,480,723...121,482,781
Ensembl chr 7:121,480,723...121,482,772 		JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:66,568,074...66,683,019
Ensembl chr 9:66,568,074...66,676,494 		JBrowse link
G Ddit3 DNA-damage inducible transcript 3 ISO
IEP		 protein:increased expression:lung, endothelial cell RGD PMID:32209028, PMID:32209028 RGD:38549370, RGD:38549370 NCBI chr 7:70,578,564...70,585,074
Ensembl chr 7:70,580,198...70,585,084 		JBrowse link
G Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 IEP protein:increased expression:lung RGD PMID:32209028 RGD:38549370 NCBI chr 6:1,428,845...1,466,193
Ensembl chr 6:1,428,834...1,466,201 		JBrowse link
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 IEP protein:increased expression:lung RGD PMID:32209028 RGD:38549370 NCBI chr 4:98,648,513...98,709,695
Ensembl chr 4:98,648,545...98,709,694 		JBrowse link
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 disease_progression ISO
IEP		 CTD Direct Evidence: marker/mechanism
protein:decreased expression:lung		 CTD PMID:24292273, PMID:32209028, PMID:32209028 RGD:38549370, RGD:38549370 NCBI chr 3:110,159,624...110,245,382
Ensembl chr 3:110,159,708...110,249,217 		JBrowse link
G Erg ETS transcription factor ERG IEP
ISO		 protein:decreased expression:lung RGD PMID:32209028, PMID:32209028 RGD:38549370, RGD:38549370 NCBI chr11:35,645,317...35,749,637
Ensembl chr11:35,646,116...35,749,594 		JBrowse link
G Hmox1 heme oxygenase 1 ISO
IEP		 protein:increased expression:lung, endothelial cell RGD PMID:32209028, PMID:32209028 RGD:38549370, RGD:38549370 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456 		JBrowse link
G Kcnk3 potassium two pore domain channel subfamily K member 3 IDA RGD PMID:32209028 RGD:38549370 NCBI chr 6:27,154,274...27,190,209
Ensembl chr 6:27,151,612...27,190,132 		JBrowse link
Pulmonary Venoocclusive Disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1, autosomal dominant OMIM
ClinVar		 PMID:11115378 PMID:12446270 PMID:16429395 PMID:16429403 PMID:18626305 PMID:20534176 PMID:25741868 PMID:26387786 NCBI chr 9:66,568,074...66,683,019
Ensembl chr 9:66,568,074...66,676,494 		JBrowse link
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1, autosomal dominant ClinVar PMID:24033266 NCBI chr 3:110,159,624...110,245,382
Ensembl chr 3:110,159,708...110,249,217 		JBrowse link
Pulmonary Venoocclusive Disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: Pulmonary venoocclusive disease 2, autosomal recessive
ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis
ClinVar Annotator: match by OMIM:234810		 OMIM
ClinVar		 PMID:24033266 PMID:24135949 PMID:24292273 PMID:25512148 PMID:26387786 PMID:32581362 NCBI chr 3:110,159,624...110,245,382
Ensembl chr 3:110,159,708...110,249,217 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      respiratory system disease 2711
        lung disease 1600
          pulmonary hypertension 302
            Dursun Syndrome 1
            Familial Cirrhosis with Pulmonary Hypertension 0
            HUPRA Syndrome 1
            Pulmonary Arterial Hypertension + 57
            Pulmonary Edema of Mountaineers 5
            Pulmonary Hypertension, Chronic Thromboembolic, without Deep Vein Thrombosis 0
            Pulmonary Hypertension, Hypoxia-Induced 20
            Rowley-Rosenberg Syndrome 0
            Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 0
            persistent fetal circulation syndrome 32
            primary pulmonary hypertension + 22
            pulmonary venoocclusive disease + 9
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      cardiovascular system disease 4370
        vascular disease 3315
          artery disease 2363
            hypertension 1494
              pulmonary hypertension 302
                Dursun Syndrome 1
                Familial Cirrhosis with Pulmonary Hypertension 0
                HUPRA Syndrome 1
                Pulmonary Arterial Hypertension + 57
                Pulmonary Edema of Mountaineers 5
                Pulmonary Hypertension, Chronic Thromboembolic, without Deep Vein Thrombosis 0
                Pulmonary Hypertension, Hypoxia-Induced 20
                Rowley-Rosenberg Syndrome 0
                Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 0
                persistent fetal circulation syndrome 32
                primary pulmonary hypertension + 22
                pulmonary venoocclusive disease + 9
paths to the root