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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.


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pulmonary hypertension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace2 angiotensin I converting enzyme 2 ISO CTD Direct Evidence: therapeutic CTD PMID:31931441 NCBI chrNW_004936470:4,964,526...5,011,808 JBrowse link
G Acvrl1 activin A receptor like type 1 susceptibility
disease_progression
ISO associated with hereditary haemorrhagic telangiectasia;DNA:missense mutations
ClinVar Annotator: match by term: Pulmonary hypertension
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:lung
DNA:mutations (human)
RGD
ClinVar
CTD
PMID:11484689, PMID:14684682, PMID:15687131, PMID:16540754, PMID:17392319, 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:30311386, PMID:32581362 RGD:1601116, RGD:1601117, RGD:5128837 NCBI chrNW_004936512:9,364,551...9,379,131 JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO RGD PMID:19168697 RGD:5686821 NCBI chrNW_004936578:3,168,599...3,179,369 JBrowse link
G Adm adrenomedullin ISO RGD PMID:14718403 RGD:1625305 NCBI chrNW_004936528:8,005,223...8,007,586 JBrowse link
G Ager advanced glycosylation end-product specific receptor ISO protein:increased expression:lung (human) RGD PMID:21041689 RGD:7244258 NCBI chrNW_004936727:1,418,342...1,422,005 JBrowse link
G Agt angiotensinogen ISO RGD PMID:21381494 RGD:5129162 NCBI chrNW_004936484:19,713,299...19,721,144 JBrowse link
G Agtr1 angiotensin II receptor type 1 onset ISO DNA:polymorphism:3' utr:1166A>C (human) RGD PMID:19332265 RGD:5147450 NCBI chrNW_004936519:6,831,096...6,873,977 JBrowse link
G Alas1 5'-aminolevulinate synthase 1 ISO mRNA:increased expression:lung (rat) RGD PMID:16181105 RGD:4144185 NCBI chrNW_004936529:3,518,337...3,531,842 JBrowse link
G Alox5 arachidonate 5-lipoxygenase treatment ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:artery
CTD
RGD
PMID:8647941, PMID:9445303, PMID:14726295, PMID:31462075 RGD:14975304, RGD:1626154, RGD:4890418, RGD:734558 NCBI chrNW_004936554:7,807,914...7,848,691 JBrowse link
G Alox5ap arachidonate 5-lipoxygenase activating protein ISO protein:increased expression:artery RGD PMID:8647941, PMID:9445303 RGD:1626154, RGD:734558 NCBI chrNW_004936472:25,477,094...25,502,823 JBrowse link
G Angpt1 angiopoietin 1 ISO protein:decreased expression:pulmonary artery RGD PMID:18073453 RGD:2316069 NCBI chrNW_004936470:37,105,469...37,328,183 JBrowse link
G Angpt2 angiopoietin 2 ISO protein:increased expression:pulmonary artery (rat) RGD PMID:19712575 RGD:2314185 NCBI chrNW_004936615:4,472,261...4,524,537 JBrowse link
G Apln apelin ISO protein:decreased expression:plasma RGD PMID:16263185 RGD:1626175 NCBI chrNW_004936479:1,889,930...1,899,811 JBrowse link
G Arg2 arginase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24951775 NCBI chrNW_004936495:11,004,296...11,045,467 JBrowse link
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 treatment ISO RGD PMID:23804254, PMID:27144451 RGD:13782086, RGD:13782089 NCBI chrNW_004936558:3,300,941...3,357,595 JBrowse link
G Atp5f1a ATP synthase F1 subunit alpha treatment ISO chronic thromboembolic pulmonary hypertension RGD PMID:21396162 RGD:13703061 NCBI chrNW_004936517:743,036...752,836 JBrowse link
G Atp5pf ATP synthase peripheral stalk subunit F6 treatment ISO mRNA, protein:increased expression:lung, plasma (rat) RGD PMID:27491388, PMID:27916219 RGD:13800892, RGD:13800894 NCBI chrNW_004936640:1,916,711...1,924,823 JBrowse link
G Atp7a ATPase copper transporting alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614111 NCBI chrNW_004936683:2,874,022...2,936,214 JBrowse link
G Bcl2 BCL2 apoptosis regulator ISO protein:decreased expression:heart right ventricle RGD PMID:18441466 RGD:2293022 NCBI chrNW_004936497:2,209,136...2,373,580 JBrowse link
G Bcl2l1 BCL2 like 1 treatment ISO RGD PMID:22559233 RGD:10400914 NCBI chrNW_004936485:18,654,046...18,707,324 JBrowse link
G Bdkrb2 bradykinin receptor B2 ISO RGD PMID:15878794 RGD:4890453 NCBI chrNW_004936604:548,844...551,031 JBrowse link
G Birc5 baculoviral IAP repeat containing 5 ISO protein:increased expression:pulmonary artery RGD PMID:15931388 RGD:2293135 NCBI chrNW_004936594:2,812,165...2,820,618 JBrowse link
G Bmpr1a bone morphogenetic protein receptor type 1A ISO RGD PMID:19324947 RGD:5129472 NCBI chrNW_004936804:52,435...115,289 JBrowse link
G Bmpr1b bone morphogenetic protein receptor type 1B ISO RGD PMID:19324947 RGD:5129472 NCBI chrNW_004936687:2,346,601...2,595,283 JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 disease_progression ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutations (human)
DNA:mutations: :multiple (human)
CTD
RGD
PMID:11590841, PMID:11893684, PMID:12358323, PMID:15775752, PMID:16297860, PMID:18663089, PMID:19324947, PMID:19785764, PMID:20002458, PMID:20496075, PMID:20522807, PMID:20534176, PMID:23383100, PMID:23502781, PMID:24224048 RGD:1580076, RGD:5129237, RGD:5129238, RGD:5129239, RGD:5129472, RGD:5129474 NCBI chrNW_004936726:1,543,263...1,711,422 JBrowse link
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: therapeutic CTD PMID:26224795 NCBI chrNW_004936596:5,176,682...5,246,102 JBrowse link
G Ca9 carbonic anhydrase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20110409 NCBI chrNW_004936524:3,672,393...3,678,630 JBrowse link
G Casr calcium sensing receptor ISO protein:increased expression:pulmonary artery (rat) RGD PMID:22730443 RGD:7205669 NCBI chrNW_004936536:8,574,064...8,599,446 JBrowse link
G Cav1 caveolin 1 treatment ISO idiopathic pulmonary arterial hypertension (IPAH) RGD PMID:15353500, PMID:17470567, PMID:23538027 RGD:1581153, RGD:1625360, RGD:8662276 NCBI chrNW_004936589:2,504,235...2,536,778 JBrowse link
G Cbln2 cerebellin 2 precursor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23502781 NCBI chrNW_004936756:567,906...576,276 JBrowse link
G Ccl1 C-C motif chemokine ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22507635 NCBI chrNW_004936538:781,687...784,199 JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased secretion:serum (human) RGD PMID:19932032 RGD:4891440 NCBI chrNW_004936490:253,279...259,947 JBrowse link
G Ccn2 cellular communication network factor 2 ISO protein:increased expression:pulmonary artery (rat) RGD PMID:19234054 RGD:2314535 NCBI chrNW_004936560:42,561...45,748 JBrowse link
G Cd28 CD28 molecule ISO RGD PMID:19075187 RGD:5131619 NCBI chrNW_004936631:335,411...363,407 JBrowse link
G Cd40 CD40 molecule treatment ISO RGD PMID:25998782 RGD:11344970 NCBI chrNW_004936514:6,936,915...6,947,246 JBrowse link
G Cd40lg CD40 ligand ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum (rat)
CTD
RGD
PMID:15302794, PMID:25998782 RGD:11344970 NCBI chrNW_004936513:10,607,617...10,620,403 JBrowse link
G Cd86 CD86 molecule ISO protein:decreased expression:blood, myeloid dendritic cell (human) RGD PMID:19693657 RGD:4892293 NCBI chrNW_004936536:8,414,491...8,481,712 JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A treatment ISO RGD PMID:24334871, PMID:24412385 RGD:10043360, RGD:10043361 NCBI chrNW_004936476:22,717,308...22,725,127 JBrowse link
G Cdkn1b cyclin dependent kinase inhibitor 1B treatment ISO RGD PMID:22383500 RGD:10045357 NCBI chrNW_004936587:4,573,166...4,578,480 JBrowse link
G Clu clusterin ISO RGD PMID:25069740 RGD:9068424 NCBI chrNW_004936675:499,745...513,515 JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment ISO RGD PMID:25867313 RGD:11041577 NCBI chrNW_004936490:11,448,552...11,465,836 JBrowse link
G Col4a1 collagen type IV alpha 1 chain treatment ISO RGD PMID:25867313 RGD:11041577 NCBI chrNW_004936472:2,416,043...2,543,561 JBrowse link
G Crp C-reactive protein ISO associated with Pulmonary Disease, Chronic Obstructive RGD PMID:22333502 RGD:6482312 NCBI chrNW_004936740:885,855...888,854 JBrowse link
G Csf3 colony stimulating factor 3 treatment ISO RGD PMID:12524378, PMID:17186992 RGD:11039432, RGD:11039539 NCBI chrNW_004936490:15,142,526...15,146,375 JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO mRNA, protein:increased expression:lung
associated with Heart Defects, Congenital
RGD PMID:18630689, PMID:19948918, PMID:20869263 RGD:4891883, RGD:4891887, RGD:4891889 NCBI chrNW_004936475:9,443,851...9,454,715 JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO mRNA, protein:increased expression:lung
associated with Scleroderma, Systemic;DNA:polymorphisms: :p.V249I, p.T280M (human)
RGD PMID:16584113, PMID:17182651 RGD:4891893, RGD:4891896 NCBI chrNW_004936473:28,508,726...28,535,640 JBrowse link
G Cxcl8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15302794 NCBI chrNW_004936598:1,779,471...1,781,353 JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 treatment ISO RGD PMID:21294880 RGD:6480473 NCBI chrNW_004936469:39,794,613...39,798,448 JBrowse link
G Cysltr1 cysteinyl leukotriene receptor 1 ISO associated with Anoxia RGD PMID:12910720 RGD:4848274 NCBI chrNW_004936547:479,261...504,757 JBrowse link
G Ece1 endothelin converting enzyme 1 ISO associated with Anoxia; RGD PMID:18767389 RGD:7243939 NCBI chrNW_004936474:7,034,134...7,083,005 JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism
associated with Pulmonary Disease, Chronic Obstructive; protein:increased secretion:plasma (human)
mRNA:increased expression:lung (rat)
Hypertension, Heritable Pulmonary Artery; mRNA:increased expression:bone marrow, macrophage (mouse)
Hypertension, Portopulmonary; protein:increased secretion:plasma (human)
CTD
RGD
PMID:7549228, PMID:9918753, PMID:12391278, PMID:20498147, PMID:20562228, PMID:20889845, PMID:20890431, PMID:20929026, PMID:20967148 RGD:4144128, RGD:4144865, RGD:4144877, RGD:4144882 NCBI chrNW_004936534:885,489...892,292 JBrowse link
G Edn2 endothelin 2 ISO RGD PMID:10598486 RGD:1580918 NCBI chrNW_004936474:23,061,219...23,064,525 JBrowse link
G Ednra endothelin receptor type A ISO RGD PMID:15243299, PMID:18506008, PMID:20531217, PMID:20562228 RGD:1580949, RGD:4144877, RGD:4892283, RGD:4892320 NCBI chrNW_004936535:1,950,117...2,005,786 JBrowse link
G Ednrb endothelin receptor type B ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15243299, PMID:15927975, PMID:18091567, PMID:20562228 RGD:1580949, RGD:4144877, RGD:4892289 NCBI chrNW_004936511:3,446,864...3,478,434 JBrowse link
G Egfr epidermal growth factor receptor ISO protein:increased expression:lung, arteriole (human) RGD PMID:12896876, PMID:21492463 RGD:5131626, RGD:5131639 NCBI chrNW_004936678:365,005...560,546 JBrowse link
G Egr1 early growth response 1 ISO protein:increased expression:lung (human)
mRNA, protein:increased expression:lung (rat)
mRNA, protein:increased expression:lung (mouse)
RGD PMID:18599502, PMID:20023177, PMID:20889906, PMID:21924231 RGD:10395308, RGD:5131875, RGD:5131883, RGD:5131890 NCBI chrNW_004936531:7,625,956...7,629,041 JBrowse link
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24292273 NCBI chrNW_004936471:3,423,792...3,527,089 JBrowse link
G Eng endoglin ISO RGD PMID:20042709 RGD:11041178 NCBI chrNW_004936487:15,467,165...15,499,180 JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO DNA:missense mutation:cds: 2097G>A,p.G537R(human) RGD PMID:16215633, PMID:18650473 RGD:10395375, RGD:11041573 NCBI chrNW_004936508:5,855,748...5,938,879 JBrowse link
G Ephx2 epoxide hydrolase 2 ISO RGD PMID:19226702 RGD:5688731 NCBI chrNW_004936675:350,357...392,919 JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:22559233 RGD:10400914 NCBI chrNW_004936543:742,722...745,332 JBrowse link
G Esr1 estrogen receptor 1 ISO RGD PMID:20081107 RGD:4892253 NCBI chrNW_004936489:4,616,839...4,887,179 JBrowse link
G Esr2 estrogen receptor 2 ISO RGD PMID:21700911 RGD:5508791 NCBI chrNW_004936495:7,956,168...8,018,356 JBrowse link
G F5 coagulation factor V ISO Chronic thromboembolic pulmonary hypertension (CTEPH) RGD PMID:20182352 RGD:4892669 NCBI chrNW_004936481:17,114,441...17,178,902 JBrowse link
G Fbln5 fibulin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12189163 NCBI chrNW_004936733:136,374...200,106 JBrowse link
G Fgf2 fibroblast growth factor 2 ISO mRNA:increased expression:lung RGD PMID:19197140 RGD:2315911 NCBI chrNW_004936662:1,886,176...1,928,998 JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 ISO RGD PMID:19197140 RGD:2315911 NCBI chrNW_004936710:1,760,365...1,815,269 JBrowse link
G Foxo1 forkhead box O1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chrNW_004936565:5,210,014...5,299,213 JBrowse link
G Gata4 GATA binding protein 4 ISO protein:increased expression:heart right ventricle RGD PMID:21059997 RGD:7207053 NCBI chrNW_004936675:3,408,549...3,420,828 JBrowse link
G Gata6 GATA binding protein 6 ISO mRNA, protein:decreased expression:lung
protein:decreased expression:lung, arteriole, venule (human)
RGD PMID:19842842, PMID:23583651 RGD:13208869, RGD:2314194 NCBI chrNW_004936550:1,814,336...1,844,399 JBrowse link
G Gba glucosylceramidase beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:12359135 NCBI chrNW_004936580:4,715,869...4,720,752 JBrowse link
G Gdf2 growth differentiation factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26801773 NCBI chrNW_004936554:7,307,461...7,322,048 JBrowse link
G Gpr182 G protein-coupled receptor 182 ISO mRNA:increased expression:lung RGD PMID:12622928 RGD:1625768 NCBI chrNW_004936646:1,210,711...1,212,746 JBrowse link
G Has1 hyaluronan synthase 1 ISO RGD PMID:19915162 RGD:9588633 NCBI chrNW_004937026:125,622...132,141 JBrowse link
G Has2 hyaluronan synthase 2 ISO mRNA:increased expression:lung RGD PMID:19915162 RGD:9588633 NCBI chrNW_004936470:25,418,069...25,443,332 JBrowse link
G Has3 hyaluronan synthase 3 ISO mRNA:decreased expression:lung RGD PMID:19915162 RGD:9588633 NCBI chrNW_004936475:19,270,788...19,282,922 JBrowse link
G Hdac1 histone deacetylase 1 ISO protein:increased expression:lung: RGD PMID:22711276 RGD:9590133 NCBI chrNW_004936474:15,320,635...15,351,418 JBrowse link
G Hdac2 histone deacetylase 2 ISO protein:decreased expression:lung: RGD PMID:22711276 RGD:9590133 NCBI chrNW_004936679:2,448,676...2,474,641 JBrowse link
G Hdac3 histone deacetylase 3 ISO protein:decreased expression:lung: RGD PMID:22711276 RGD:9590133 NCBI chrNW_004936504:12,530,546...12,546,556 JBrowse link
G Hdac4 histone deacetylase 4 ISO protein:increased expression:lung: RGD PMID:22711276 RGD:9590133 NCBI chrNW_004936745:1,730,743...1,942,071 JBrowse link
G Hdac5 histone deacetylase 5 ISO protein:increased expression:lung: RGD PMID:22711276 RGD:9590133 NCBI chrNW_004936541:561,721...598,915 JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism
associated with Anoxia;protein:increased expression:pulmonary artery
CTD
RGD
PMID:16215633, PMID:17213961, PMID:20110409 RGD:10395375, RGD:1601553 NCBI chrNW_004936495:5,770,988...5,816,157 JBrowse link
G Hif3a hypoxia inducible factor 3 subunit alpha ISO RGD PMID:16215633 RGD:10395375 NCBI chrNW_004936664:296,288...323,143 JBrowse link
G Hk1 hexokinase 1 ISO mRNA:increased expression:lung RGD PMID:25767292 RGD:11353880 NCBI chrNW_004936521:9,067,062...9,139,112 JBrowse link
G Hmgb1 high mobility group box 1 treatment ISO RGD PMID:25032709 RGD:10402082 NCBI chrNW_004936472:25,236,728...25,246,585 JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:12750068 RGD:5508701 NCBI chrNW_004936549:1,378,536...1,400,501 JBrowse link
G Hmox1 heme oxygenase 1 ISO RGD PMID:14970910, PMID:19409105, PMID:20957739 RGD:1582715, RGD:4145307, RGD:4145325 NCBI chrNW_004936492:5,042,353...5,049,216 JBrowse link
G Hpgd 15-hydroxyprostaglandin dehydrogenase ISO mRNA, protein:increased expression:lung RGD PMID:24657469 RGD:11667099 NCBI chrNW_004936516:5,551,192...5,578,796 JBrowse link
G Htr2b 5-hydroxytryptamine receptor 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:14659797 NCBI chrNW_004936525:5,711,894...5,729,074 JBrowse link
G Hyal1 hyaluronidase 1 ISO mRNA:decreased expression:lung RGD PMID:19915162 RGD:9588633 NCBI chrNW_004936529:1,838,212...1,842,399 JBrowse link
G Hyal2 hyaluronidase 2 ISO mRNA:decreased expression:lung RGD PMID:19915162 RGD:9588633 NCBI chrNW_004936529:1,845,445...1,851,106 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 chrNW_004936659:616,570...627,172 JBrowse link
G Id1 inhibitor of DNA binding 1, HLH protein ISO RGD PMID:20522807 RGD:9686087 NCBI chrNW_004936485:18,610,721...18,611,889 JBrowse link
G Ifngr1 interferon gamma receptor 1 ISO mRNA: increased expression RGD PMID:20808962 RGD:4892610 NCBI chrNW_004936560:4,519,858...4,545,763 JBrowse link
G Il10 interleukin 10 disease_progression ISO protein:increased expression:serum RGD PMID:20713898 RGD:4142530 NCBI chrNW_004936557:5,834,874...5,838,502 JBrowse link
G Il13 interleukin 13 ISO associated with Scleroderma, Limited;protein:increased expression:plasma
associated with sclerosis; protein:increased expression:plasma
RGD PMID:19799786, PMID:21425123 RGD:4145600, RGD:8549528 NCBI chrNW_004936647:2,529,933...2,532,503 JBrowse link
G Il13ra1 interleukin 13 receptor subunit alpha 1 ISO RGD PMID:20671265, PMID:20808962 RGD:4892610, RGD:4892611 NCBI chrNW_004936479:11,052,077...11,108,915 JBrowse link
G Il13ra2 interleukin 13 receptor subunit alpha 2 ISO mRNA:increased expression:lung RGD PMID:20522789 RGD:4892612 NCBI chrNW_004936499:860,179...883,884 JBrowse link
G Il18 interleukin 18 ISO RGD PMID:17400729 RGD:4889590 NCBI chrNW_004936612:2,306,963...2,325,086 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 chrNW_004936783:1,251,678...1,256,807 JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO RGD PMID:7946395 RGD:4143197 NCBI chrNW_004936783:1,447,158...1,466,331 JBrowse link
G Il23r interleukin 23 receptor ISO associated with Scleroderma, Systemic;DNA:SNPs: :rs11209026, rs11465804 (human) RGD PMID:19918037 RGD:5096624 NCBI chrNW_004936591:4,365,598...4,425,053 JBrowse link
G Il4 interleukin 4 ISO RGD PMID:20889544 RGD:5128515 NCBI chrNW_004936647:2,510,457...2,518,576 JBrowse link
G Kcnk3 potassium two pore domain channel subfamily K member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30365877 NCBI chrNW_004936493:5,767,779...5,772,043 JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28090300 NCBI chrNW_004936521:2,000,113...2,706,010 JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30689673 NCBI chrNW_004936591:5,771,371...5,846,177 JBrowse link
G LOC101964223 ATP-binding cassette sub-family A member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26780485 NCBI chrNW_004936694:1,735,206...1,778,100 JBrowse link
G LOC101966992 cytochrome b-245 heavy chain treatment ISO associated with Anoxia RGD PMID:18424632, PMID:18952568 RGD:4762683, RGD:4773907 NCBI chrNW_004936502:4,631,750...4,676,686 JBrowse link
G LOC101967032 cytochrome b-245 light chain ISO associated with Anoxia;mRNA, protein:increased expression:lung RGD PMID:18424632, PMID:18952568 RGD:4762683, RGD:4773907 NCBI chrNW_004936641:1,036,967...1,044,954 JBrowse link
G LOC101968921 angiotensin-converting enzyme ISO CTD Direct Evidence: marker/mechanism CTD PMID:12359135 NCBI chrNW_004936541:4,157,847...4,178,156 JBrowse link
G LOC101969148 cytochrome P450 1A1 ISO mRNA,protein:increased expression:lung RGD PMID:28956952 RGD:13702097 NCBI chrNW_004936471:33,682,730...33,688,332 JBrowse link
G LOC101976500 haptoglobin treatment ISO protein:decreased expression:serum RGD PMID:2043024, PMID:19023114, PMID:19703762, PMID:25656991 RGD:11041794, RGD:1626353, RGD:5147420, RGD:5147440 NCBI chrNW_004936475:21,841,054...21,845,821 JBrowse link
G Lox lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614111 NCBI chrNW_004936575:2,526,067...2,533,996 JBrowse link
G Mapk1 mitogen-activated protein kinase 1 treatment ISO RGD PMID:25907942 RGD:13800893 NCBI chrNW_004936619:1,889,841...1,932,646 JBrowse link
G Mapk3 mitogen-activated protein kinase 3 treatment ISO RGD PMID:25907942 RGD:13800893 NCBI chrNW_004936501:12,342,670...12,390,650 JBrowse link
G Mfn1 mitofusin 1 ISO protein:decreased expression:heart right ventricle (rat) RGD PMID:27422986 RGD:12910832 NCBI chrNW_004936566:3,737,315...3,775,894 JBrowse link
G Mif macrophage migration inhibitory factor ISO associated with sclerodema, systemic; protein:increased expression:serum RGD PMID:18618071 RGD:4891006 NCBI chrNW_004936619:1,207,058...1,208,010 JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO RGD PMID:23087098 RGD:7207217 NCBI chrNW_004936551:5,167,909...5,175,149 JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO associated with Heart Failure, Congestive;protein:decreased expression:monocyte
associated with Pulmonary Embolism;protein:increased expression:lung, plasma
RGD PMID:16867026, PMID:17133179, PMID:18355767, PMID:21063214, PMID:23087098 RGD:1642028, RGD:1642053, RGD:5129210, RGD:5130155, RGD:7207217 NCBI chrNW_004936514:7,038,240...7,045,873 JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO RGD PMID:23470622 RGD:10041039 NCBI chrNW_004936474:158,376...282,310 JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor treatment ISO RGD PMID:22306243 RGD:7240564 NCBI chrNW_004936470:20,480,844...20,485,955 JBrowse link
G Nampt nicotinamide phosphoribosyltransferase susceptibility ISO mRNA,protein:increased expression:lung,pulmonary arterial endothelial cell:
protein:increased expression:lung:
RGD PMID:28202489 RGD:13781882 NCBI chrNW_004936479:17,682,070...17,716,713 JBrowse link
G Nfatc2 nuclear factor of activated T cells 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:17596340, PMID:27522126 RGD:1627651 NCBI chrNW_004936514:3,453,475...3,579,292 JBrowse link
G Nos2 nitric oxide synthase 2 onset ISO associated with heart disease; protein:increased expression:endothelial cell
associated with Congenital diaphragmatic hernia; protein:decreased expression:pulmonary artery, endothelium
associated with Anoxia; mouse gene in rat model
associated with Anoxia; protein:increased expression:pulmonary artery
associated with Scleroderma, Systemic; DNA:repeats, SNPs:promoter:(CCTTT), c.-1026C>T, c.-277A>G (human)
RGD PMID:11104748, PMID:16113050, PMID:16456243, PMID:16813666, PMID:19912632 RGD:1580936, RGD:1580940, RGD:4891462, RGD:4891468, RGD:5132602 NCBI chrNW_004936538:4,052,277...4,097,051 JBrowse link
G Nos3 nitric oxide synthase 3 treatment
susceptibility
ISO associated with chronic obstructive pulmonary disease; DNA:polymorphism:cds:p.G894T (human)
mRNA, protein:increased expression:pulmonary endothelial cell
DNA:polymorphism:cds:p.E298D (human)
RNA:increased expression:lung
CTD Direct Evidence: marker/mechanism
associated with Beta-Thalassemia;DNA:repeats:intron:
associated with heart disease; protein:increased expression:endothelial cell
protein:increased expression:arteriole
RGD
CTD
PMID:11686901, PMID:17065228, PMID:18953956, PMID:19487814, PMID:19912632, PMID:20215577, PMID:20724942, PMID:21111729, PMID:21144100, PMID:25699607, PMID:29151278 RGD:11533642, RGD:13504742, RGD:4892004, RGD:4892009, RGD:4892010, RGD:4892038, RGD:4892039, RGD:4892042, RGD:4892043, RGD:5132602, RGD:5132631 NCBI chrNW_004936527:6,427,147...6,445,770 JBrowse link
G Nox4 NADPH oxidase 4 ISO associated with Anoxia;mRNA, protein:increased expression:lung RGD PMID:18952568 RGD:4762683 NCBI chrNW_004936736:230,465...394,859 JBrowse link
G Nppa natriuretic peptide A ISO RGD PMID:2136863 RGD:7247720 NCBI chrNW_004936474:671,362...673,610 JBrowse link
G Nppb natriuretic peptide B severity ISO protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16893710, PMID:16936438, PMID:20408845, PMID:21351102 RGD:1642203, RGD:1642205 NCBI chrNW_004936474:683,325...684,662 JBrowse link
G Pde3a phosphodiesterase 3A ISO mRNA:increased expression:pulmonary artery RGD PMID:12466227 RGD:1582528 NCBI chrNW_004936548:5,758,634...6,072,195 JBrowse link
G Pde5a phosphodiesterase 5A ISO RGD PMID:19881228 RGD:2314460 NCBI chrNW_004936869:24,265...117,120 JBrowse link
G Pdgfa platelet derived growth factor subunit A ISO RGD PMID:8447423 RGD:1580847 NCBI chrNW_004936754:808,894...828,554 JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO RGD PMID:8447423, PMID:21819559, PMID:22523431 RGD:1580847, RGD:6482831, RGD:6482859 NCBI chrNW_004936492:2,353,840...2,368,573 JBrowse link
G Pdia3 protein disulfide isomerase family A member 3 ISO protein:increased expression:lung: RGD PMID:23315792 RGD:9999167 NCBI chrNW_004936471:6,809,181...6,834,189 JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 treatment ISO RGD PMID:22559233 RGD:10400914 NCBI chrNW_004936541:4,873,459...4,919,787 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 chrNW_004936488:4,098,187...4,111,108 JBrowse link
G Pms2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Pulmonary 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 chrNW_004936750:439,396...468,747 JBrowse link
G Prkg1 protein kinase cGMP-dependent 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21351102 NCBI chrNW_004936787:330,390...1,491,994 JBrowse link
G Ptgis prostaglandin I2 synthase susceptibility ISO rat gene in a mouse model RGD PMID:10359560, PMID:15684702 RGD:1580695, RGD:727270 NCBI chrNW_004936514:4,775,884...4,814,574 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO anoxia associated; RGD PMID:18542928, PMID:19577709 RGD:2300276, RGD:5135495 NCBI chrNW_004936481:3,821,564...3,828,086 JBrowse link
G Ptk2 protein tyrosine kinase 2 ISO RGD PMID:16244766 RGD:1581290 NCBI chrNW_004936470:10,379,855...10,578,531 JBrowse link
G Ramp2 receptor activity modifying protein 2 ISO mRNA:increased expression:heart right ventricle RGD PMID:17437045 RGD:1642678 NCBI chrNW_004936490:17,479,899...17,481,788 JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO protein:altered localization:nucleus, blood vessel endothelial cell, lung RGD PMID:17934115 RGD:2298843 NCBI chrNW_004936599:3,800,142...3,810,583 JBrowse link
G Rhoa ras homolog family member A ISO protein:altered localization:membrane, artery, lung
protein:altered localization:pulmonary artery
RGD PMID:16322374, PMID:18091588 RGD:1642819, RGD:2298877 NCBI chrNW_004936529:1,000,050...1,045,655 JBrowse link
G Serpine1 serpin family E member 1 treatment ISO DNA:polymorphism:3'utr
mRNA, protein:decreased expression:lung
RGD PMID:18337154, PMID:20300292, PMID:27115515 RGD:11073610, RGD:4143527, RGD:4143529 NCBI chrNW_004936543:1,032,543...1,040,956 JBrowse link
G Slc2a4 solute carrier family 2 member 4 ISO RGD PMID:19043358 RGD:2313622 NCBI chrNW_004936595:567,267...574,051 JBrowse link
G Slc31a1 solute carrier family 31 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614111 NCBI chrNW_004936559:333,461...364,737 JBrowse link
G Slc6a4 solute carrier family 6 member 4 onset
no_association
severity
ISO DNA:repeat:promoter (human)
DNA:polymorphism, repeat:promoter, intron (human)
associated with Anoxia
associated with Heart Septal Defects, Ventricular;DNA:polymorphisms (human)
CTD Direct Evidence: marker/mechanism
associated with Pulmonary Disease, Chronic Obstructive;DNA:polymorphism (human)
RGD
CTD
PMID:11259539, PMID:16339917, PMID:16399993, PMID:18074800, PMID:18506000, PMID:19473340, PMID:19556740, PMID:19736308, PMID:19886858 RGD:4889430, RGD:4889432, RGD:4889434, RGD:4889435, RGD:4889437, RGD:4889440, RGD:4889442, RGD:4889445 NCBI chrNW_004936538:6,205,268...6,239,062 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 chrNW_004936508:10,894,918...11,256,084 JBrowse link
G Smad1 SMAD family member 1 ISO protein:decreased phosphorylation:lung, vascular associated smooth muscle cell
protein:decreased expression, increased phosphorylation:lung
RGD PMID:17347486, PMID:18367643 RGD:12903274, RGD:1643222 NCBI chrNW_004936535:3,582,512...3,626,312 JBrowse link
G Smad4 SMAD family member 4 ISO RGD PMID:17347486, PMID:18367643 RGD:12903274, RGD:1643222 NCBI chrNW_004936497:12,242,869...12,278,012 JBrowse link
G Smad6 SMAD family member 6 ISO mRNA:decreased expression:lung RGD PMID:17347486 RGD:1643222 NCBI chrNW_004936471:26,781,420...26,856,556 JBrowse link
G Smad7 SMAD family member 7 ISO RGD PMID:17347486 RGD:1643222 NCBI chrNW_004936497:13,894,586...13,921,978 JBrowse link
G Smad9 SMAD family member 9 ISO RGD PMID:17347486 RGD:1643222 NCBI chrNW_004936472:30,980,850...31,050,138 JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3 treatment ISO RGD PMID:19088082 RGD:10042965 NCBI chrNW_004936475:18,667,563...18,755,132 JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20110409 NCBI chrNW_004936489:11,178,338...11,191,601 JBrowse link
G Tac1 tachykinin precursor 1 ISO RGD PMID:12662901 RGD:5147638 NCBI chrNW_004936585:2,932,783...2,941,141 JBrowse link
G Tacr1 tachykinin receptor 1 ISO RGD PMID:12662901 RGD:5147638 NCBI chrNW_004936556:1,266,621...1,421,271 JBrowse link
G Tacr2 tachykinin receptor 2 ISO RGD PMID:12662901 RGD:5147638 NCBI chrNW_004936521:9,053,179...9,065,790 JBrowse link
G Tek TEK receptor tyrosine kinase ISO mRNA, protein:increased expression:lung RGD PMID:16917117 RGD:1601487 NCBI chrNW_004936611:2,420,176...2,531,726 JBrowse link
G Tert telomerase reverse transcriptase treatment ISO RGD PMID:24376652 RGD:11038675 NCBI chrNW_004936815:468,987...492,666 JBrowse link
G Tgfa transforming growth factor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18424623 NCBI chrNW_004936491:14,659,089...14,758,614 JBrowse link
G Tgfb1 transforming growth factor beta 1 onset ISO protein:increased expression:blood
DNA:SNPs: :multiple (human)
RGD PMID:18496036, PMID:19324949 RGD:4145138, RGD:4145273 NCBI chrNW_004936661:3,742,080...3,758,266 JBrowse link
G Tgfbr1 transforming growth factor beta receptor 1 ISO RGD PMID:18202349 RGD:2302019 NCBI chrNW_004936524:7,656,523...7,680,043 JBrowse link
G Tgfbr2 transforming growth factor beta receptor 2 ISO mRNA:decreased expression:lung RGD PMID:17392319 RGD:1601116 NCBI chrNW_004936473:21,324,669...21,409,430 JBrowse link
G Thbd thrombomodulin ISO associated with Mixed Connective Tissue Disease RGD PMID:16784493 RGD:1601639 NCBI chrNW_004936620:2,563,900...2,568,117 JBrowse link
G Thpo thrombopoietin ISO protein:increased expression:pulmonary artery, plasma RGD PMID:12487786 RGD:1580087 NCBI chrNW_004936578:5,508,669...5,515,984 JBrowse link
G Tlr4 toll like receptor 4 ISO associated with anoxia RGD PMID:20205596 RGD:4144108 NCBI chrNW_004936487:6,519,140...6,532,018 JBrowse link
G Tnc tenascin C severity ISO protein:increased expression:plasma RGD PMID:15879421, PMID:16782755, PMID:19288153, PMID:20528622 RGD:4889562, RGD:4889564, RGD:4889567, RGD:4889570 NCBI chrNW_004936487:4,172,263...4,256,780 JBrowse link
G Tnf tumor necrosis factor ISO associated with Pulmonary Edema; protein:increased expression:Bronchoalveolar Lavage Fluid
CTD Direct Evidence: therapeutic
associated with pulmonary disease, chronic obstructive; protein:increased expression:serum
RGD
CTD
PMID:2518282, PMID:9628235, PMID:12391106, PMID:16899829 RGD:4142833, RGD:4143280, RGD:4143422 NCBI chrNW_004936727:1,936,066...1,937,766 JBrowse link
G Tp53 tumor protein p53 treatment ISO RGD PMID:24334871 RGD:10043360 NCBI chrNW_004936595:919,807...935,367 JBrowse link
G Tp53bp1 tumor protein p53 binding protein 1 ISO protein:increased expression:lung RGD PMID:24270264 RGD:9586752 NCBI chrNW_004936471:6,589,395...6,668,242 JBrowse link
G Tph1 tryptophan hydroxylase 1 severity ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:17675372, PMID:18506000 RGD:5686352 NCBI chrNW_004936528:1,090,529...1,116,081 JBrowse link
G Tph2 tryptophan hydroxylase 2 severity ISO DNA:SNP: :1473C>G (mouse) RGD PMID:17675372 RGD:5686352 NCBI chrNW_004936568:974,575...1,065,800 JBrowse link
G Trpc3 transient receptor potential cation channel subfamily C member 3 ISO RGD PMID:15358862 RGD:1580490 NCBI chrNW_004936662:1,130,555...1,171,352 JBrowse link
G Trpc6 transient receptor potential cation channel subfamily C member 6 ISO RGD PMID:15358862 RGD:1580490 NCBI chrNW_004936551:6,173,588...6,282,971 JBrowse link
G Uts2 urotensin 2 ISO RGD PMID:15042392 RGD:2306848 NCBI chrNW_004936623:2,339,259...2,345,717 JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO protein:increased expression:blood vessel endothelium RGD PMID:17934115 RGD:2298843 NCBI chrNW_004936748:785,491...802,791 JBrowse link
G Vegfb vascular endothelial growth factor B ISO RGD PMID:12547729 RGD:1625708 NCBI chrNW_004936599:4,963,161...4,966,258 JBrowse link
G Vip vasoactive intestinal peptide ISO RGD PMID:22140628 RGD:5685374 NCBI chrNW_004936489:5,425,778...5,434,483 JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:14507115 RGD:1580645 NCBI chrNW_004936709:1,578,137...1,741,877 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 chrNW_004936541:556,413...561,336 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 OMIM NCBI chrNW_004936661:1,861,646...1,871,707 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
OMIM
ClinVar
CTD
PMID:11407344, PMID:14718356, PMID:15465784, PMID:16708072, PMID:20154341, PMID:21767969 NCBI chrNW_004936586:5,739,038...5,850,317 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 chrNW_004936641:3,641,123...3,645,624 JBrowse link
G Atp2c2 ATPase secretory pathway Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chrNW_004936641:3,498,693...3,547,968 JBrowse link
G Cibar2 CBY1 interacting BAR domain containing 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chrNW_004936641:3,099,616...3,109,969 JBrowse link
G Cotl1 coactosin like F-actin binding protein 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chrNW_004936641:3,422,734...3,458,830 JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO CTD Direct Evidence: marker/mechanism
CACD, OMIM:265380, DNA:polymorphism:T1405N
CTD
RGD
PMID:11407344 RGD:1600716 NCBI chrNW_004936586:5,739,038...5,850,317 JBrowse link
G Crispld2 cysteine rich secretory protein LCCL domain containing 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chrNW_004936641:3,228,791...3,277,379 JBrowse link
G CUNH16orf74 chromosome unknown C16orf74 homolog ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chrNW_004936641:2,730,252...2,752,176 JBrowse link
G Dnaaf1 dynein axonemal assembly factor 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chrNW_004936641:3,656,331...3,674,907 JBrowse link
G Emc8 ER membrane protein complex subunit 8 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chrNW_004936641:2,696,184...2,710,141 JBrowse link
G Foxf1 forkhead box F1 ISO OMIM NCBI chrNW_004943883:4...1,756 JBrowse link
G Gins2 GINS complex subunit 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chrNW_004936641:2,757,150...2,775,904 JBrowse link
G Gse1 Gse1 coiled-coil protein ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chrNW_004936641:2,779,521...2,920,840 JBrowse link
G Hsdl1 hydroxysteroid dehydrogenase like 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chrNW_004936641:3,674,575...3,692,175 JBrowse link
G Irf8 interferon regulatory factor 8 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chrNW_004936641:2,608,109...2,622,446 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 chrNW_004936641:3,618,756...3,633,505 JBrowse link
G Kiaa0513 KIAA0513 ortholog ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chrNW_004936641:3,113,634...3,167,019 JBrowse link
G Klhl36 kelch like family member 36 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chrNW_004936641:3,392,253...3,403,575 JBrowse link
G LOC101971634 cytochrome c oxidase subunit 4 isoform 1, mitochondrial ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chrNW_004936641:2,690,723...2,695,230 JBrowse link
G Mbtps1 membrane bound transcription factor peptidase, site 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chrNW_004936641:3,696,506...3,751,558 JBrowse link
G Meak7 MTOR associated protein, eak-7 homolog ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chrNW_004936641:3,490,531...3,498,615 JBrowse link
G Mlycd malonyl-CoA decarboxylase ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chrNW_004936641:3,836,418...3,846,485 JBrowse link
G Necab2 N-terminal EF-hand calcium binding protein 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chrNW_004936641:3,779,024...3,802,883 JBrowse link
G Osgin1 oxidative stress induced growth inhibitor 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chrNW_004936641:3,803,799...3,812,995 JBrowse link
G Slc38a8 solute carrier family 38 member 8 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chrNW_004936641:3,757,107...3,778,939 JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17273977 NCBI chrNW_004936471:33,224,174...33,245,076 JBrowse link
G Taf1c TATA-box binding protein associated factor, RNA polymerase I subunit C ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chrNW_004936641:3,649,177...3,653,798 JBrowse link
G Usp10 ubiquitin specific peptidase 10 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chrNW_004936641:3,308,121...3,350,476 JBrowse link
G Zdhhc7 zinc finger DHHC-type palmitoyltransferase 7 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chrNW_004936641:3,175,338...3,199,487 JBrowse link
primary pulmonary hypertension 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: Primary pulmonary hypertension 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 chrNW_004936512:9,364,551...9,379,131 JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary pulmonary hypertension
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
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia
CTD
ClinVar
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:25326637, PMID:25429696, PMID:25460361, PMID:25612240, PMID:25688877, PMID:25741868, PMID:25917481, PMID:26387786, PMID:26820968, PMID:27453251, PMID:27630060, PMID:27884767, PMID:28388887, PMID:28492532, PMID:28507310, PMID:29631995, PMID:29650961, PMID:29743074, PMID:29843651, PMID:30029678, PMID:30311386, PMID:30578397, PMID:32581362 NCBI chrNW_004936726:1,543,263...1,711,422 JBrowse link
G Cav1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936589:2,504,235...2,536,778 JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:18498373, PMID:23298310, PMID:24033266, PMID:25741868, PMID:26167679, PMID:26387786, PMID:28492532, PMID:30029678 NCBI chrNW_004936487:15,467,165...15,499,180 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 chrNW_004943883:4...1,756 JBrowse link
G Hdac1 histone deacetylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22711276 NCBI chrNW_004936474:15,320,635...15,351,418 JBrowse link
G Hdac4 histone deacetylase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22711276 NCBI chrNW_004936745:1,730,743...1,942,071 JBrowse link
G Hdac5 histone deacetylase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22711276 NCBI chrNW_004936541:561,721...598,915 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 chrNW_004936485:18,610,721...18,611,889 JBrowse link
G Kcnk3 potassium two pore domain channel subfamily K member 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary pulmonary hypertension
CTD
ClinVar
PMID:23883380 NCBI chrNW_004936493:5,767,779...5,772,043 JBrowse link
G Nop58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:23579436, PMID:26387786 NCBI chrNW_004936726:1,457,038...1,487,374 JBrowse link
G Smad1 SMAD family member 1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:21898662, PMID:26387786 NCBI chrNW_004936535:3,582,512...3,626,312 JBrowse link
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:21898662, PMID:24728327, PMID:25502805, PMID:25741868, PMID:26387786, PMID:28492532 NCBI chrNW_004936497:12,242,869...12,278,012 JBrowse link
G Smad9 SMAD family member 9 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary pulmonary hypertension
CTD
ClinVar
NCBI chrNW_004936472:30,980,850...31,050,138 JBrowse link
G Tbx4 T-box transcription factor 4 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:25741868, PMID:31151956 NCBI chrNW_004936490:2,823,531...2,853,282 JBrowse link
Primary Pulmonary Hypertension, 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 OMIM NCBI chrNW_004936726:1,543,263...1,711,422 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 OMIM NCBI chrNW_004936472:30,980,850...31,050,138 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 chrNW_004936687:2,346,601...2,595,283 JBrowse link
G Cav1 caveolin 1 ISO OMIM NCBI chrNW_004936589:2,504,235...2,536,778 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 OMIM NCBI chrNW_004936493:5,767,779...5,772,043 JBrowse link
Pulmonary Arterial Hypertension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abi2 abl interactor 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004936631:30,109...101,748 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:30311386, PMID:32581362 NCBI chrNW_004936512:9,364,551...9,379,131 JBrowse link
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004936726:940,696...1,015,771 JBrowse link
G Aox1 aldehyde oxidase 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004936825:263,725...332,424 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 chrNW_004936804:52,435...115,289 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 chrNW_004936687:2,346,601...2,595,283 JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease
CTD
ClinVar
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:30311386, PMID:30578397, PMID:32581362 NCBI chrNW_004936726:1,543,263...1,711,422 JBrowse link
G Bzw1 basic leucine zipper and W2 domains 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004936726:149,391...166,075 JBrowse link
G C2cd6 C2 calcium dependent domain containing 6 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004936726:734,269...867,709 JBrowse link
G Carf calcium responsive transcription factor ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004936726:1,958,561...2,010,972 JBrowse link
G Casp10 caspase 10 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004936726:460,556...489,550 JBrowse link
G Casp8 caspase 8 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004936726:554,627...596,334 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 chrNW_004936589:2,504,235...2,536,778 JBrowse link
G Cd28 CD28 molecule ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004936631:335,411...363,407 JBrowse link
G Cdk15 cyclin dependent kinase 15 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004936726:1,037,614...1,129,961 JBrowse link
G Cflar CASP8 and FADD like apoptosis regulator ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004936726:381,888...425,565 JBrowse link
G Clk1 CDC like kinase 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004936726:170,763...178,897 JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004936631:484,356...489,643 JBrowse link
G Dnah5 dynein axonemal heavy chain 5 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:11788826, PMID:22416021, PMID:25186273, PMID:26228299, PMID:28492532, PMID:30311386 NCBI chrNW_004936665:2,267,272...2,545,765 JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:29068549, PMID:30311386 NCBI chrNW_004936551:4,584,438...4,913,829 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 chrNW_004936471:3,423,792...3,527,089 JBrowse link
G Eng endoglin ISO 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:32581362 NCBI chrNW_004936487:15,467,165...15,499,180 JBrowse link
G Fam117b family with sequence similarity 117 member B ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004936726:1,753,318...1,846,977 JBrowse link
G Fam126b family with sequence similarity 126 member B ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004936726:261,530...338,105 JBrowse link
G Flacc1 flagellum associated containing coiled-coil domains 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004936726:600,213...631,513 JBrowse link
G Fzd7 frizzled class receptor 7 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004936726:1,256,684...1,275,324 JBrowse link
G Gjb2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chrNW_004936720:1,528,205...1,530,296 JBrowse link
G Hydin HYDIN axonemal central pair apparatus protein ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chrNW_004936475:22,523,962...22,836,355 JBrowse link
G Ica1l islet cell autoantigen 1 like ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004936726:1,853,178...1,922,684 JBrowse link
G Icos inducible T cell costimulator ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004936631:562,650...572,263 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 chrNW_004936493:5,767,779...5,772,043 JBrowse link
G Kctd18 potassium channel tetramerization domain containing 18 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004936825:396,359...415,478 JBrowse link
G LOC101964223 ATP-binding cassette sub-family 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 chrNW_004936694:1,735,206...1,778,100 JBrowse link
G LOC101964504 cytochrome P450 20A1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004936726:2,234,611...2,295,527 JBrowse link
G Mpp4 membrane palmitoylated protein 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004936726:893,411...938,876 JBrowse link
G Nbeal1 neurobeachin like 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004936726:2,045,202...2,224,477 JBrowse link
G Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004936726:338,384...349,943 JBrowse link
G Nif3l1 NGG1 interacting factor 3 like 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004936726:194,873...212,487 JBrowse link
G Nop58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004936726:1,457,038...1,487,374 JBrowse link
G Orc2 origin recognition complex subunit 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004936726:215,483...259,867 JBrowse link
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chrNW_004936691:716,723...767,960 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 chrNW_004936750:439,396...468,747 JBrowse link
G Ppil3 peptidylprolyl isomerase like 3 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004936726:181,128...194,823 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 chrNW_004936631:100,072...196,557 JBrowse link
G Sgo2 shugoshin 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004936825:350,390...373,005 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:30004997, PMID:30029678 NCBI chrNW_004936472:30,980,850...31,050,138 JBrowse link
G Sod2 superoxide dismutase 2 ISO protein:decreased expression:pulmonary artery
protein:decreased expression:small pulmonary artery
RGD PMID:20529999 RGD:27095884 NCBI chrNW_004936489:11,178,338...11,191,601 JBrowse link
G Spats2l spermatogenesis associated serine rich 2 like ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004936825:423,986...591,062 JBrowse link
G Stradb STE20 related adaptor beta ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004936726:709,037...728,696 JBrowse link
G Sumo1 small ubiquitin like modifier 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004936726:1,402,977...1,413,974 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 NCBI chrNW_004936490:2,823,531...2,853,282 JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004936726:872,368...892,185 JBrowse link
G Trak2 trafficking kinesin protein 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004936726:649,413...708,816 JBrowse link
G Wdr12 WD repeat domain 12 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004936726:1,931,221...1,958,457 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:30311386, PMID:32581362 NCBI chrNW_004936512:9,364,551...9,379,131 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:26387786, PMID:28492532 NCBI chrNW_004936487:15,467,165...15,499,180 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 ISO mRNA:increased expression:lung (rat) RGD PMID:23517027 RGD:12738217 NCBI chrNW_004936607:3,576,357...3,632,423 JBrowse link
G Fis1 fission, mitochondrial 1 ISO mRNA:increased expression:lung (rat) RGD PMID:23517027 RGD:12738217 NCBI chrNW_004936543:1,112,746...1,116,521 JBrowse link
G Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25373139 NCBI chrNW_004936576:2,353,874...2,411,747 JBrowse link
G Hmox1 heme oxygenase 1 ISO protein:increased expression:lung RGD PMID:21296072 RGD:10755745 NCBI chrNW_004936492:5,042,353...5,049,216 JBrowse link
G Mfn2 mitofusin 2 ISO mRNA:decreased expression:lung (rat) RGD PMID:23517027 RGD:12738217 NCBI chrNW_004936474:767,754...795,258 JBrowse link
Pulmonary Hypertension, Chronic Thromboembolic, without Deep Vein Thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101963197 HLA class II histocompatibility antigen, DP beta 1 chain susceptibility ISO DNA:polymorphisms:cds:HLA-DPB1*0202 (human) RGD PMID:19165231 RGD:5143999 NCBI chrNW_004936476:25,730,800...25,741,089 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 ISO RGD PMID:31264901 RGD:38599217 NCBI chrNW_004936678:365,005...560,546 JBrowse link
G Egln1 egl-9 family hypoxia inducible factor 1 ISO RGD PMID:16761101 RGD:11252085 NCBI chrNW_004936484:19,343,770...19,386,087 JBrowse link
G Egln3 egl-9 family hypoxia inducible factor 3 ISO RGD PMID:16761101 RGD:11252085 NCBI chrNW_004936494:8,240,272...8,267,487 JBrowse link
G G6pd glucose-6-phosphate dehydrogenase treatment ISO RGD PMID:25063801 RGD:10449119 NCBI chrNW_004936809:1,269,900...1,285,853 JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO mRNA:decreased expression:lung (rat) RGD PMID:19823174 RGD:4145499 NCBI chrNW_004936636:617,376...640,424 JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO mRNA:decreased expression:lung (rat) RGD PMID:19823174 RGD:4145499 NCBI chrNW_004936475:10,438,715...10,462,915 JBrowse link
G Hpgd 15-hydroxyprostaglandin dehydrogenase ISO mRNA, protein:increased expression:lung RGD PMID:24657469 RGD:11667099 NCBI chrNW_004936516:5,551,192...5,578,796 JBrowse link
G Mfn2 mitofusin 2 ISO mRNA, protein:decreased expression:lung (rat) RGD PMID:26485208 RGD:12910856 NCBI chrNW_004936474:767,754...795,258 JBrowse link
G Nog noggin ISO mRNA,protein:decreased expression:lung: RGD PMID:25740156 RGD:12801489 NCBI chrNW_004936490:6,262,651...6,264,069 JBrowse link
G Nos3 nitric oxide synthase 3 ISO mRNA,protein:increased expression:pulmonary artery RGD PMID:9950873 RGD:11533933 NCBI chrNW_004936527:6,427,147...6,445,770 JBrowse link
G Slc39a12 solute carrier family 39 member 12 ISO RGD PMID:26258299 RGD:10401832 NCBI chrNW_004936520:9,380,723...9,444,146 JBrowse link
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 ISO protein:increased expression:lung RGD PMID:32209028 RGD:38549370 NCBI chrNW_004936492:2,114,478...2,115,969 JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936726:1,543,263...1,711,422 JBrowse link
G Ddit3 DNA damage inducible transcript 3 ISO protein:increased expression:lung, endothelial cell RGD PMID:32209028 RGD:38549370 NCBI chrNW_004936646:1,665,019...1,669,212 JBrowse link
G Eif2ak2 eukaryotic translation initiation factor 2 alpha kinase 2 ISO protein:increased expression:lung RGD PMID:32209028 RGD:38549370 NCBI chrNW_004936663:1,127,047...1,157,263 JBrowse link
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO protein:increased expression:lung RGD PMID:32209028 RGD:38549370 NCBI chrNW_004936712:413,602...454,443 JBrowse link
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 disease_progression ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:lung
CTD
RGD
PMID:24292273, PMID:32209028 RGD:38549370 NCBI chrNW_004936471:3,423,792...3,527,089 JBrowse link
G Erg ETS transcription factor ERG ISO protein:decreased expression:lung RGD PMID:32209028 RGD:38549370 NCBI chrNW_004936500:4,459,298...4,623,290 JBrowse link
G Hmox1 heme oxygenase 1 ISO protein:increased expression:lung
protein:increased expression:lung, endothelial cell
RGD PMID:32209028 RGD:38549370 NCBI chrNW_004936492:5,042,353...5,049,216 JBrowse link
G Kcnk3 potassium two pore domain channel subfamily K member 3 ISO RGD PMID:32209028 RGD:38549370 NCBI chrNW_004936493:5,767,779...5,772,043 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 OMIM NCBI chrNW_004936726:1,543,263...1,711,422 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 chrNW_004936471:3,423,792...3,527,089 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 OMIM NCBI chrNW_004936471:3,423,792...3,527,089 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11938
    disease of anatomical entity 11499
      respiratory system disease 2353
        lung disease 1423
          pulmonary hypertension 268
            Dursun Syndrome 1
            Familial Cirrhosis with Pulmonary Hypertension 0
            HUPRA Syndrome 1
            Pulmonary Arterial Hypertension + 54
            Pulmonary Edema of Mountaineers 5
            Pulmonary Hypertension, Chronic Thromboembolic, without Deep Vein Thrombosis 1
            Pulmonary Hypertension, Hypoxia-Induced 11
            Rowley-Rosenberg Syndrome 0
            Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 0
            persistent fetal circulation syndrome 28
            primary pulmonary hypertension + 17
            pulmonary venoocclusive disease + 9
Path 2
Term Annotations click to browse term
  disease 11938
    disease of anatomical entity 11499
      cardiovascular system disease 3184
        vascular disease 2287
          artery disease 1537
            hypertension 766
              pulmonary hypertension 268
                Dursun Syndrome 1
                Familial Cirrhosis with Pulmonary Hypertension 0
                HUPRA Syndrome 1
                Pulmonary Arterial Hypertension + 54
                Pulmonary Edema of Mountaineers 5
                Pulmonary Hypertension, Chronic Thromboembolic, without Deep Vein Thrombosis 1
                Pulmonary Hypertension, Hypoxia-Induced 11
                Rowley-Rosenberg Syndrome 0
                Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 0
                persistent fetal circulation syndrome 28
                primary pulmonary hypertension + 17
                pulmonary venoocclusive disease + 9
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.