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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:primary pulmonary hypertension
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Accession:DOID:14557 term browser browse the term
Definition:A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling. (DO)
Synonyms:exact_synonym: IDIOPATHIC AND/OR FAMILIAL PULMONARY ARTERIAL HYPERTENSION;   Idiopathic Pulmonary Arterial Hypertension;   familial primary pulmonary hypertension;   heritable pulmonary arterial hypertension;   idiopathic pulmonary hypertension;   idiopathic pulmonary hypertensions;   primary pulmonary hypertensions
 related_synonym: primary pulmonary hypertension, dexfenfluramine-associated;   primary pulmonary hypertension, fenfluramine-associated
 primary_id: MESH:D065627
 xref: ICD10CM:I27.0;   ICD9CM:416.0;   MIM:PS178600;   NCI:C121945;   NCI:C97119;   ORDO:422
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
primary pulmonary 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: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:61,827,186...61,905,703
Ensembl chr 9:61,827,139...61,905,699 		JBrowse link
G Acadl acyl-CoA dehydrogenase, long chain ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:68,333,981...68,372,149
Ensembl chr 9:68,333,980...68,372,220 		JBrowse link
G Acvrl1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: Heritable pulmonary arterial hypertension ClinVar PMID:25741868 PMID:28492532 PMID:31727138 NCBI chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591 		JBrowse link
G Adam23 ADAM metallopeptidase domain 23 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:64,862,649...65,009,718
Ensembl chr 9:64,862,878...65,006,515 		JBrowse link
G Adora2a adenosine A2a receptor ISS OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 MouseDO NCBI chr20:13,315,848...13,333,386
Ensembl chr20:13,315,853...13,333,386 		JBrowse link
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074 NCBI chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737 		JBrowse link
G Bmpr1b bone morphogenetic protein receptor type 1B ISO ClinVar Annotator: match by term: Idiopathic pulmonary arterial hypertension ClinVar PMID:22374147 PMID:25741868 PMID:25758993 PMID:28492532 NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368 		JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Idiopathic and/or familial pulmonary arterial hypertension | 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
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344		 CTD
ClinVar
MouseDO		 PMID:3291115 PMID:9536098 PMID:10903931 PMID:10973254 PMID:11015450 More... NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809 		JBrowse link
G Carf calcium responsive transcription factor ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:61,502,368...61,552,433
Ensembl chr 9:61,506,956...61,550,462 		JBrowse link
G Cav1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705 		JBrowse link
G Ccnyl1 cyclin Y-like 1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:66,071,721...66,121,742
Ensembl chr 9:66,071,543...66,107,999 		JBrowse link
G Cd28 Cd28 molecule ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685 		JBrowse link
G Cdk15 cyclin-dependent kinase 15 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074 NCBI chr 9:60,710,787...60,803,638
Ensembl chr 9:60,711,715...60,802,777 		JBrowse link
G Cmklr2 chemerin chemokine-like receptor 2 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:64,583,310...64,617,883
Ensembl chr 9:64,585,594...64,586,655 		JBrowse link
G Cpo carboxypeptidase O ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:65,319,996...65,338,250 JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033 		JBrowse link
G Creb1 cAMP responsive element binding protein 1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816 		JBrowse link
G Cryga crystallin, gamma A ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:66,482,176...66,484,638
Ensembl chr 9:66,482,176...66,509,896 		JBrowse link
G Crygb crystallin, gamma B ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:66,461,460...66,463,520
Ensembl chr 9:66,461,460...66,463,520 		JBrowse link
G Crygc crystallin, gamma C ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:66,451,591...66,453,626
Ensembl chr 9:66,451,593...66,453,626 		JBrowse link
G Crygd crystallin, gamma D ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:66,442,057...66,443,668
Ensembl chr 9:66,442,054...66,444,067 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G Cyp20a1 cytochrome P450, family 20, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:61,755,804...61,805,123
Ensembl chr 9:61,755,790...61,805,123 		JBrowse link
G Dytn dystrotelin ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:65,037,378...65,098,549
Ensembl chr 9:65,037,493...65,098,549 		JBrowse link
G Eef1b2 eukaryotic translation elongation factor 1 beta 2 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:64,580,163...64,582,737
Ensembl chr 9:64,579,893...64,582,737 		JBrowse link
G Fam117b family with sequence similarity 117, member B ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:61,340,284...61,418,531
Ensembl chr 9:61,340,249...61,408,483 		JBrowse link
G Fastkd2 FAST kinase domains 2 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:65,166,148...65,188,184
Ensembl chr 9:65,168,228...65,188,174 		JBrowse link
G Fbxo32 F-box protein 32 ISO mRNA:increased expression:vastus lateralis RGD PMID:23972212 RGD:329812002 NCBI chr 7:89,731,428...89,764,997
Ensembl chr 7:89,730,232...89,765,436 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO protein:increased expression:lung (human) RGD PMID:29722558 RGD:155791445 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626 		JBrowse link
G Foxf1 forkhead box F1 ISO ClinVar Annotator: match by term: Idiopathic and/or familial pulmonary arterial hypertension ClinVar PMID:19500772 PMID:19592680 PMID:19812545 PMID:20425831 PMID:22766610 More... NCBI chr19:49,153,949...49,157,741
Ensembl chr19:49,153,699...49,157,738 		JBrowse link
G Fzd5 frizzled class receptor 5 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:66,113,096...66,120,276
Ensembl chr 9:66,113,112...66,121,457 		JBrowse link
G Fzd7 frizzled class receptor 7 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074 NCBI chr 9:60,931,433...60,934,252
Ensembl chr 9:60,930,875...60,935,781 		JBrowse link
G Hdac1 histone deacetylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22711276 NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111 		JBrowse link
G Hdac4 histone deacetylase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22711276 NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164 		JBrowse link
G Hdac5 histone deacetylase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22711276 NCBI chr10:87,152,978...87,187,921
Ensembl chr10:87,152,978...87,188,235 		JBrowse link
G Ica1l islet cell autoantigen 1-like ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:61,410,959...61,469,884
Ensembl chr 9:61,412,091...61,470,134 		JBrowse link
G Icos inducible T-cell co-stimulator ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672 		JBrowse link
G Id1 inhibitor of DNA binding 1 ISO protein:decreased expression:lung, wall of arteriole (human) RGD PMID:20522807 RGD:9686087 NCBI chr 3:141,210,666...141,212,420
Ensembl chr 3:141,211,267...141,212,419 		JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708 		JBrowse link
G Ino80d INO80 complex subunit D ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:64,447,075...64,514,013
Ensembl chr 9:64,457,165...64,515,242 		JBrowse link
G Kansl1l KAT8 regulatory NSL complex subunit 1-like ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:68,211,151...68,316,992
Ensembl chr 9:68,211,189...68,300,222 		JBrowse link
G Kcnk3 potassium two pore domain channel subfamily K member 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:25,761,487...25,799,153
Ensembl chr 6:25,763,228...25,799,153 		JBrowse link
G Klf7 KLF transcription factor 7 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:65,433,683...65,526,372
Ensembl chr 9:65,437,167...65,526,261 		JBrowse link
G Lancl1 LanC like glutathione S-transferase 1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:68,515,052...68,548,646
Ensembl chr 9:68,518,574...68,548,628 		JBrowse link
G Map2 microtubule-associated protein 2 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:67,723,422...67,981,886
Ensembl chr 9:67,723,371...67,979,809 		JBrowse link
G Mdh1b malate dehydrogenase 1B ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:65,120,370...65,168,008
Ensembl chr 9:65,119,029...65,167,933 		JBrowse link
G Mettl21a methyltransferase 21A, HSPA lysine ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:65,934,253...65,999,964
Ensembl chr 9:65,978,051...65,987,550 		JBrowse link
G Mfn1 mitofusin 1 ISO protein:decreased expression:vastus lateralis RGD PMID:23972212 RGD:329812002 NCBI chr 2:115,313,380...115,359,651
Ensembl chr 2:115,313,401...115,359,640 		JBrowse link
G Mfn2 mitofusin 2 ISO protein:decreased expression:vastus lateralis RGD PMID:23972212 RGD:329812002 NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342 		JBrowse link
G Mir23a microRNA 23a ISO RNA:increased expression:serum RGD PMID:25815108 RGD:155882560 NCBI chr19:23,954,997...23,955,071
Ensembl chr19:23,954,997...23,955,071 		JBrowse link
G Myl1 myosin, light chain 1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:68,437,514...68,458,256
Ensembl chr 9:68,437,517...68,458,261 		JBrowse link
G Nbeal1 neurobeachin-like 1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:61,575,154...61,743,896
Ensembl chr 9:61,575,356...61,736,750 		JBrowse link
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:64,546,430...64,579,751
Ensembl chr 9:64,546,225...64,579,893 		JBrowse link
G Nop58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074 NCBI chr 9:61,120,939...61,144,810
Ensembl chr 9:61,120,929...61,144,810 		JBrowse link
G Nrp2 neuropilin 2 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:64,122,815...64,238,007
Ensembl chr 9:64,123,132...64,237,958 		JBrowse link
G Pard3b par-3 family cell polarity regulator beta ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:63,038,435...64,067,178
Ensembl chr 9:63,038,436...64,068,053 		JBrowse link
G Pikfyve phosphoinositide kinase, FYVE-type zinc finger containing ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:66,563,747...66,657,873
Ensembl chr 9:66,563,727...66,657,868 		JBrowse link
G Plekhm3 pleckstrin homology domain containing M3 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:66,166,233...66,325,332
Ensembl chr 9:66,166,321...66,325,294 		JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISS OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 MouseDO NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468 		JBrowse link
G Ptgis prostaglandin I2 synthase ISO DNA:SNP, missense mutations:intron 4, CDS:c.521+1G>A, p.R252Q (c.755G>A), p.A447T (c.1339G>A) (, rs759344518, rs146531327) (human) RGD PMID:32236489 RGD:401901150 NCBI chr 3:155,928,564...155,964,228
Ensembl chr 3:155,916,412...155,965,451 		JBrowse link
G Pth2r parathyroid hormone 2 receptor ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:66,706,050...66,810,601
Ensembl chr 9:66,706,050...66,810,036 		JBrowse link
G Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:61,907,476...61,990,170
Ensembl chr 9:61,907,758...61,961,209 		JBrowse link
G Rfc1 replication factor C subunit 1 ISO mRNA:increased expression:lung (human) RGD PMID:37410515 RGD:401940160 NCBI chr14:42,966,279...43,041,372
Ensembl chr14:42,966,324...43,041,370 		JBrowse link
G Rpe ribulose-5-phosphate-3-epimerase ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:68,191,027...68,211,295
Ensembl chr 9:68,191,292...68,211,591 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO protein:increased phosphorylation:vastus lateralis RGD PMID:23972212 RGD:329812002 NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Smad9 SMAD family member 9 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344		 CTD
MouseDO		 NCBI chr 2:138,956,326...139,006,315
Ensembl chr 2:138,986,471...139,006,307 		JBrowse link
G Sox17 SRY-box transcription factor 17 ISO protein:decreased expression:pulmonary artery (human) RGD PMID:36919784 RGD:329853737 NCBI chr 5:15,016,660...15,022,228
Ensembl chr 5:15,016,731...15,022,228 		JBrowse link
G Sumo1 small ubiquitin-like modifier 1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074 NCBI chr 9:61,078,790...61,108,697
Ensembl chr 9:61,077,435...61,108,761 		JBrowse link
G Tnfsf4 TNF superfamily member 4 ISS OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 MouseDO NCBI chr13:73,723,329...73,746,809
Ensembl chr13:73,723,329...73,746,788 		JBrowse link
G Trim63 tripartite motif containing 63 ISO mRNA, protein:increased expression:vastus lateralis RGD PMID:23972212 RGD:329812002 NCBI chr 5:146,533,492...146,547,332
Ensembl chr 5:146,533,507...146,547,322 		JBrowse link
G Unc80 unc-80 homolog, NALCN channel complex subunit ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:68,011,940...68,190,135
Ensembl chr 9:68,011,728...68,187,659 		JBrowse link
G Vip vasoactive intestinal peptide ISS OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 MouseDO NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216 		JBrowse link
G Wdr12 WD repeat domain 12 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:61,475,498...61,502,762
Ensembl chr 9:61,475,517...61,502,469 		JBrowse link
G Zdbf2 zinc finger, DBF-type containing 2 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 9:64,672,974...64,748,446
Ensembl chr 9:64,709,880...64,744,265 		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 ClinVar
OMIM		 PMID:8486760 PMID:9536098 PMID:9686343 PMID:9711878 PMID:11388595 More... NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033 		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 More... NCBI chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591 		JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: BMPR2-related disorder | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia OMIM
ClinVar		 PMID:3291115 PMID:9536098 PMID:10903931 PMID:10973254 PMID:11015450 More... NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809 		JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:16690726 PMID:16754821 PMID:18498373 PMID:23298310 PMID:24033266 More... NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230 		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 More... NCBI chr 4:159,354,689...159,358,173
Ensembl chr 4:159,350,097...159,357,697 		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 6:25,761,487...25,799,153
Ensembl chr 6:25,763,228...25,799,153 		JBrowse link
G Nop58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:23579436 NCBI chr 9:61,120,939...61,144,810
Ensembl chr 9:61,120,929...61,144,810 		JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:1301187 PMID:1682234 PMID:1769645 PMID:2044609 PMID:2574153 More... NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130 		JBrowse link
G Smad1 SMAD family member 1 ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:21898662 NCBI chr19:28,513,130...28,573,665
Ensembl chr19:28,513,131...28,573,651 		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:28492532 More... NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438 		JBrowse link
G Smad9 SMAD family member 9 ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar NCBI chr 2:138,956,326...139,006,315
Ensembl chr 2:138,986,471...139,006,307 		JBrowse link
G Snord11 small nucleolar RNA, C/D box 11 ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:23579436 NCBI chr 9:61,137,715...61,137,798
Ensembl chr 9:61,137,715...61,137,798 		JBrowse link
G Snord11b small nucleolar RNA, C/D box 11B ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:23579436 NCBI chr 9:61,137,168...61,137,247
Ensembl chr 9:61,137,168...61,137,247 		JBrowse link
G Snord70 small nucleolar RNA, C/D box 70 ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:23579436 NCBI chr 9:61,125,974...61,126,060
Ensembl chr 9:61,125,974...61,126,060 		JBrowse link
G Snord70b small nucleolar RNA, C/D box 70B ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:23579436 NCBI chr 9:61,126,745...61,126,828
Ensembl chr 9:61,126,745...61,126,828 		JBrowse link
G Tbx4 T-box transcription factor 4 ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:9536098 PMID:15106123 PMID:16199547 PMID:17576681 PMID:23592887 More... NCBI chr10:70,730,686...70,760,829
Ensembl chr10:70,731,163...70,760,825 		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: Pulmonary hypertension, primary, 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19211612 PMID:19419974 More... NCBI chr 2:138,956,326...139,006,315
Ensembl chr 2:138,986,471...139,006,307 		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: Pulmonary hypertension, primary, 3 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368 		JBrowse link
G Cav1 caveolin 1 ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 3 OMIM
ClinVar		 PMID:22474227 PMID:25741868 PMID:28492532 PMID:29231014 PMID:31727138 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705 		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: Pulmonary hypertension, primary, 4 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23883380 PMID:24033266 PMID:25741868 More... NCBI chr 6:25,761,487...25,799,153
Ensembl chr 6:25,763,228...25,799,153 		JBrowse link
primary pulmonary hypertension 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp13a3 ATPase 13A3 ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30679663 PMID:31727138 PMID:34493544 More... NCBI chr11:70,364,998...70,442,005
Ensembl chr11:70,365,322...70,441,235 		JBrowse link
primary pulmonary hypertension 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Capns1 calpain, small subunit 1 ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 6 ClinVar
OMIM		 PMID:21972389 PMID:38230350 NCBI chr 1:85,444,613...85,454,861
Ensembl chr 1:85,444,608...85,454,795 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19065
    Developmental Disease 14582
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13621
        genetic disease 13292
          polygenic disease 735
            digenic disease 735
              primary pulmonary hypertension 86
                Neonatal Pulmonary Hypertension 1
                primary pulmonary hypertension 1 15
                primary pulmonary hypertension 2 1
                primary pulmonary hypertension 3 2
                primary pulmonary hypertension 4 1
                primary pulmonary hypertension 5 1
                primary pulmonary hypertension 6 1
Path 2
Term Annotations click to browse term
  disease 19065
    disease of anatomical entity 18355
      cardiovascular system disease 5559
        heart disease 3437
          congestive heart failure 555
            Cor pulmonale 90
              chronic pulmonary heart disease 86
                primary pulmonary hypertension 86
                  Neonatal Pulmonary Hypertension 1
                  primary pulmonary hypertension 1 15
                  primary pulmonary hypertension 2 1
                  primary pulmonary hypertension 3 2
                  primary pulmonary hypertension 4 1
                  primary pulmonary hypertension 5 1
                  primary pulmonary hypertension 6 1
paths to the root