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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 Arterial Hypertension
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Accession:DOID:9001820 term browser browse the term
Definition:A progressive rare pulmonary disease characterized by high blood pressure in the PULMONARY ARTERY.
Synonyms:exact_synonym: PAH
 narrow_synonym: Drug- or toxin-induced pulmonary arterial hypertension;   PULMONARY ARTERIAL HYPERTENSION ASSOCIATED WITH CONGENITAL HEART DISEASE;   Pulmonary arterial hypertension associated with HIV infection;   Pulmonary arterial hypertension associated with chronic hemolytic anemia;   Pulmonary arterial hypertension associated with portal hypertension;   Pulmonary arterial hypertension associated with schistosomiasis;   SOX17-RELATED PULMONARY ARTERIAL HYPERTENSION
 primary_id: MESH:D000081029
 xref: EFO:0001361;   EFO:0001362;   EFO:0009054;   EFO:0009192;   EFO:0009194;   EFO:0009195;   EFO:0009197;   EFO:0009198


show annotations for term's descendants           Sort by:
Pulmonary Arterial Hypertension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:10204114 PMID:10685980 PMID:16380471 PMID:16416420 PMID:17539904 More... NCBI chr 1:105,734,992...105,816,272
Ensembl chr 1:105,734,992...105,815,982 		JBrowse link
G Abi2 abl-interactor 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:69,321,072...69,490,630
Ensembl chr 9:69,321,150...69,490,597 		JBrowse link
G Acvrl1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:10767348 PMID:11484689 PMID:12114496 PMID:14684682 PMID:15024723 More... NCBI chr 7:134,117,917...134,135,306
Ensembl chr 7:134,118,024...134,135,305 		JBrowse link
G Ahr aryl hydrocarbon receptor severity ISO CTD Direct Evidence: marker/mechanism
protein:increased activity:serum (human) 		CTD
RGD		 PMID:33836606 PMID:33836606 RGD:401940192 NCBI chr 6:57,961,423...57,998,901
Ensembl chr 6:57,961,423...57,998,901 		JBrowse link
G Ahsp alpha hemoglobin stabilizing protein ISO mRNA:altered expression: (human) RGD PMID:35710932 RGD:329961295 NCBI chr 1:182,879,901...182,885,508
Ensembl chr 1:192,310,244...192,315,942 		JBrowse link
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:68,107,310...68,180,192
Ensembl chr 9:68,107,528...68,179,660 		JBrowse link
G Aox1 aldehyde oxidase 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:67,073,831...67,152,980
Ensembl chr 9:67,073,821...67,152,980 		JBrowse link
G Apln apelin treatment ISO RGD PMID:23867624 RGD:329848996 NCBI chr  X:132,058,739...132,091,518
Ensembl chr  X:132,081,759...132,091,246 		JBrowse link
G Atp13a3 ATPase 13A3 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 PMID:28492532 PMID:30679663 PMID:31727138 PMID:34493544 More... NCBI chr11:83,860,725...83,946,899
Ensembl chr11:83,870,218...83,944,662 		JBrowse link
G Axin2 axin 2 exacerbates IMP RGD PMID:28694128 RGD:151356920 NCBI chr10:94,393,379...94,426,579
Ensembl chr10:94,395,909...94,426,575 		JBrowse link
G Bmp7 bone morphogenetic protein 7 IEP protein:increased expression:lung, pulmonary artery (rat) RGD PMID:31542483 RGD:155888480 NCBI chr 3:182,059,318...182,135,273
Ensembl chr 3:182,052,337...182,135,137 		JBrowse link
G Bmpr1a bone morphogenetic protein receptor type 1A ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease ClinVar PMID:24121792 PMID:25186627 PMID:25741868 PMID:25980754 PMID:26467025 More... NCBI chr16:9,740,751...9,786,861
Ensembl chr16:9,742,875...9,786,861 		JBrowse link
G Bmpr1b bone morphogenetic protein receptor type 1B ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease ClinVar PMID:25741868 PMID:28492532 PMID:30029678 NCBI chr 2:233,211,525...233,544,344
Ensembl chr 2:233,211,525...233,544,311 		JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 treatment 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
RGD		 PMID:3291115 PMID:9536098 PMID:9886286 PMID:10903931 PMID:10973254 More... RGD:329848996 NCBI chr 9:68,685,942...68,801,353
Ensembl chr 9:68,685,988...68,801,350 		JBrowse link
G Bzw1 basic leucine zipper and W2 domains 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:67,424,860...67,438,656
Ensembl chr 9:67,424,866...67,439,684 		JBrowse link
G C2cd6 C2 calcium dependent domain containing 6 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:67,929,069...68,024,993
Ensembl chr 9:67,929,082...68,024,960 		JBrowse link
G Carf calcium responsive transcription factor ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:68,996,419...69,046,480
Ensembl chr 9:68,996,250...69,046,479 		JBrowse link
G Casp8 caspase 8 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:67,747,109...67,806,699
Ensembl chr 9:67,758,033...67,806,699 		JBrowse link
G Cav1 caveolin 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease ClinVar PMID:25741868 PMID:28492532 PMID:30029678 NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:46,600,738...46,639,740 		JBrowse link
G Cd28 Cd28 molecule ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:69,660,316...69,689,192
Ensembl chr 9:69,545,326...69,689,192 		JBrowse link
G Cdh2 cadherin 2 ISO mRNA:increased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chr18:8,051,097...8,265,288
Ensembl chr18:8,051,097...8,265,288 		JBrowse link
G Cdk15 cyclin-dependent kinase 15 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:68,205,759...68,299,218
Ensembl chr 9:68,205,678...68,293,579 		JBrowse link
G Cflar CASP8 and FADD-like apoptosis regulator ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:67,679,502...67,747,226
Ensembl chr 9:67,679,559...67,726,434 		JBrowse link
G Clk1 CDC-like kinase 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:67,441,962...67,453,180
Ensembl chr 9:67,441,952...67,451,187 		JBrowse link
G Cp ceruloplasmin ISO associated with systemic scleroderma;protein:increased expression:serum RGD PMID:32630589 RGD:401827129 NCBI chr 2:104,368,336...104,427,119
Ensembl chr 2:104,368,456...104,427,087 		JBrowse link
G Creb1 cAMP responsive element binding protein 1 treatment IDA RGD PMID:33760143 RGD:401960860 NCBI chr 9:73,397,333...73,466,339
Ensembl chr 9:73,397,306...73,466,339 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:69,813,265...69,819,973 		JBrowse link
G Ctnnd1 catenin delta 1 ISO protein:decreased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chr 3:90,090,025...90,141,247
Ensembl chr 3:90,090,564...90,141,189 		JBrowse link
G Cyp20a1 cytochrome P450, family 20, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:69,249,841...69,299,146
Ensembl chr 9:69,249,844...69,299,291 		JBrowse link
G Ddah1 dimethylarginine dimethylaminohydrolase 1 exacerbates IMP compared to wild type RGD PMID:31402164 RGD:151347602 NCBI chr 2:234,667,499...234,800,322
Ensembl chr 2:237,327,766...237,460,626 		JBrowse link
G Ddah1em1Ywxu dimethylarginine dimethylaminohydrolase 1; CRISPR/Cas9 induced mutant 1, Ywxu exacerbates IMP compared to wild type RGD PMID:31402164 RGD:151347602
G Dhps deoxyhypusine synthase ISO protein:increased expression:pulmonary arterial smooth muscle: RGD PMID:38261723 RGD:597621636 NCBI chr19:23,082,454...23,086,544
Ensembl chr19:39,987,324...39,991,432 		JBrowse link
G Dohh deoxyhypusine hydroxylase ISO protein:increased expression:pulmonary arterial smooth muscle, pulmonary artery, right ventricle: RGD PMID:38261723 RGD:597621636 NCBI chr 7:8,972,202...8,977,025
Ensembl chr 7:8,972,202...8,977,025 		JBrowse link
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:12215525 PMID:24135949 PMID:24292273 PMID:24310610 PMID:25741868 More... NCBI chr 3:125,810,207...125,895,574
Ensembl chr 3:125,810,060...125,895,574 		JBrowse link
G Eif5a eukaryotic translation initiation factor 5A ISO protein:increased expression:pulmonary arterial smooth muscle, pulmonary artery, right ventricle RGD PMID:38261723 RGD:597621636 NCBI chr10:55,138,821...55,143,272
Ensembl chr10:55,138,823...55,143,330 		JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease ClinVar PMID:10625079 PMID:15517393 PMID:15521985 PMID:15879500 PMID:16705692 More... NCBI chr 3:36,332,190...36,370,324
Ensembl chr 3:36,326,202...36,370,933 		JBrowse link
G Fam117b family with sequence similarity 117, member B ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:68,834,334...68,902,543
Ensembl chr 9:68,834,354...68,902,543 		JBrowse link
G Fhit fragile histidine triad diadenosine triphosphatase ISO RGD PMID:30107138 RGD:329349307 NCBI chr15:16,365,401...17,872,901
Ensembl chr15:16,747,338...17,872,621 		JBrowse link
G Flacc1 flagellum associated containing coiled-coil domains 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:67,809,731...67,837,793
Ensembl chr 9:67,809,739...67,837,793 		JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase IEP protein:decreased expression:lung RGD PMID:34310344 RGD:329845886 NCBI chr19:31,456,749...31,865,011
Ensembl chr19:31,522,293...31,864,957 		JBrowse link
G Fzd7 frizzled class receptor 7 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:68,425,538...68,428,357
Ensembl chr 9:68,411,259...68,432,585 		JBrowse link
G Gdf2 growth differentiation factor 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 PMID:26801773 PMID:28492532 PMID:31661308 PMID:31727138 NCBI chr16:9,261,679...9,267,678
Ensembl chr16:9,261,662...9,267,677 		JBrowse link
G Gpx3 glutathione peroxidase 3 ISO associated with systemic scleroderma;protein:decreased expression:serum RGD PMID:32630589 RGD:401827129 NCBI chr10:39,529,335...39,537,406
Ensembl chr10:39,529,448...39,537,405 		JBrowse link
G H19 H19 imprinted maternally expressed transcript ameliorates
treatment 		ISO
IEP 		RGD PMID:30547791 PMID:30240970 RGD:155882573, RGD:156430315 NCBI chr 1:207,160,175...207,162,851 JBrowse link
G Htr1b 5-hydroxytryptamine receptor 1B ISO protein:increased expression:endothelium, smooth muscle, pulmonary artery RGD PMID:28473438 RGD:329955562 NCBI chr 8:91,395,405...91,414,815
Ensembl chr 8:91,052,432...91,418,583 		JBrowse link
G Hycc2 hyccin PI4KA lipid kinase complex subunit 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:67,551,064...67,623,353
Ensembl chr 9:67,551,064...67,587,186 		JBrowse link
G Ica1l islet cell autoantigen 1-like ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:68,906,148...68,964,078
Ensembl chr 9:68,906,148...68,963,692 		JBrowse link
G Icos inducible T-cell co-stimulator ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:69,862,042...69,900,864
Ensembl chr 9:69,877,785...69,900,960 		JBrowse link
G Ifng interferon gamma treatment IEP RGD PMID:23867624 RGD:329848996 NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor treatment IEP RGD PMID:30240970 RGD:156430315 NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:130,959,997...131,248,664 		JBrowse link
G Il2 interleukin 2 treatment IEP RGD PMID:23867624 RGD:329848996 NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:121,932,968...121,937,672 		JBrowse link
G Impa1 inositol monophosphatase 1 ISO RGD PMID:30604625 RGD:126781711 NCBI chr 2:91,462,781...91,484,057
Ensembl chr 2:93,370,299...93,391,468 		JBrowse link
G Itga5 integrin subunit alpha 5 ISO mRNA:increased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chr 7:136,358,097...136,381,305
Ensembl chr 7:136,358,097...136,381,305 		JBrowse link
G Kcna5 potassium voltage-gated channel subfamily A member 5 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 4:161,040,853...161,044,311
Ensembl chr 4:160,996,950...161,044,408 		JBrowse link
G Kcnk3 potassium two pore domain channel subfamily K member 3 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 6:31,483,129...31,519,061
Ensembl chr 6:31,483,140...31,519,061 		JBrowse link
G Kcnn4 potassium calcium-activated channel subfamily N member 4 ameliorates IMP RGD PMID:28679649 RGD:329955564 NCBI chr 1:89,084,306...89,102,279
Ensembl chr 1:89,086,814...89,102,275 		JBrowse link
G Kctd18 potassium channel tetramerization domain containing 18 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:59,502,220...59,566,857
Ensembl chr 9:66,996,447...67,061,069 		JBrowse link
G Map3k7 mitogen activated protein kinase kinase kinase 7 treatment IEP RGD PMID:35582418 RGD:155804297 NCBI chr 5:51,149,524...51,212,012
Ensembl chr 5:51,154,352...51,212,012 		JBrowse link
G Mir140 microRNA 140 severity ISO miRNA:decreased expression:blood (human) RGD PMID:27214554 RGD:329337371 NCBI chr19:52,375,293...52,375,391
Ensembl chr19:52,375,293...52,375,391 		JBrowse link
G Mir143 microRNA 143 ameliorates ISO RNA:increased expression:pulmonary smooth muscle cell: RGD PMID:26311719 PMID:26311719 RGD:11537224, RGD:11537224 NCBI chr18:57,371,349...57,371,453 JBrowse link
G Mir17 microRNA 17 severity ISO miRNA:increased expression:blood RGD PMID:32600075 RGD:329349306 NCBI chr15:98,587,848...98,587,931
Ensembl chr15:98,587,848...98,587,931 		JBrowse link
G Mir200a microRNA 200a treatment IEP RGD PMID:30240970 RGD:156430315 NCBI chr 5:171,930,717...171,930,805 JBrowse link
G Mir221 microRNA 221 ameliorates ISO
IEP
IMP 		RNA:increased expression:lung,pulmonary artery smooth muscle cell RGD PMID:28694128 PMID:28694128 PMID:28694128 RGD:151356920, RGD:151356920, RGD:151356920 NCBI chr  X:6,023,182...6,023,290
Ensembl chr  X:6,023,182...6,023,290 		JBrowse link
G Mir675 microRNA 675 treatment IEP RGD PMID:30240970 RGD:156430315 NCBI chr 1:207,161,752...207,161,835 JBrowse link
G Mpp4 MAGUK p55 scaffold protein 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:68,063,867...68,103,050
Ensembl chr 9:68,063,867...68,106,128 		JBrowse link
G Nbeal1 neurobeachin-like 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:69,069,326...69,237,932
Ensembl chr 9:69,070,247...69,231,307 		JBrowse link
G Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:67,623,417...67,633,629
Ensembl chr 9:67,623,614...67,633,613 		JBrowse link
G Nif3l1 NGG1 interacting factor 3 like 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:67,474,286...67,494,350
Ensembl chr 9:67,474,351...67,494,350 		JBrowse link
G Nnmt nicotinamide N-methyltransferase IEP protein:increased activity,altered activity:lung, liver (rat) RGD PMID:27581040 RGD:401793717 NCBI chr 8:57,820,156...57,851,301
Ensembl chr 8:57,825,464...57,843,174 		JBrowse link
G Nop58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:68,614,992...68,638,911
Ensembl chr 9:68,615,010...68,638,909 		JBrowse link
G Nos3 nitric oxide synthase 3 treatment ISO RGD PMID:23867624 RGD:329848996 NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:11,686,268...11,706,664 		JBrowse link
G Notch1 notch receptor 1 ISO protein:decreased expression:endothelial cell, nucleus:
ClinVar Annotator: match by term: Pulmonary arterial hypertension 		ClinVar
RGD		 PMID:15472075 PMID:16614245 PMID:18593716 PMID:19245433 PMID:19635999 More... RGD:155646132 NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:29,676,171...29,721,613 		JBrowse link
G Notch3 notch receptor 3 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:22006983 PMID:22153900 PMID:22159056 PMID:24086431 PMID:25741868 More... NCBI chr 7:11,783,550...11,834,585
Ensembl chr 7:11,784,272...11,834,778 		JBrowse link
G Orc2 origin recognition complex, subunit 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:60,001,631...60,038,301
Ensembl chr 9:67,496,825...67,526,649 		JBrowse link
G Park7 Parkinsonism associated deglycase exacerbates IMP RGD PMID:29069575 RGD:151347449 NCBI chr 5:166,636,551...166,659,825
Ensembl chr 5:166,636,552...166,659,825 		JBrowse link
G Pdcd4 programmed cell death 4 treatment IEP RGD PMID:30240970 RGD:156430315 NCBI chr 1:262,912,659...262,949,581
Ensembl chr 1:262,926,656...262,950,189 		JBrowse link
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr  X:137,576,214...137,619,297
Ensembl chr  X:137,576,235...137,615,914 		JBrowse link
G Ppil3 peptidylprolyl isomerase like 3 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:59,966,405...59,980,147
Ensembl chr 9:67,460,595...67,474,251 		JBrowse link
G Ptgis prostaglandin I2 synthase treatment
susceptibility 		ISO
IEP 		human gene in a rat model
DNA:repeat, SNPs:promoter, intron: , 185C>T, 325C>A ( , rs5582, rs116939356) (human) 		RGD PMID:17635855 PMID:18612919 PMID:11034952 PMID:24605778 PMID:23841984 RGD:401901195, RGD:401901264, RGD:401959335, RGD:401959406, RGD:401959742 NCBI chr 3:176,347,589...176,383,251
Ensembl chr 3:176,335,437...176,407,650 		JBrowse link
G Ptprd protein tyrosine phosphatase, receptor type, D ISO mRNA:decreased expression:blood, pulmonary artery (human) RGD PMID:35848503 RGD:401976433 NCBI chr 5:95,093,221...97,415,498
Ensembl chr 5:95,095,858...96,178,903 		JBrowse link
G Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:69,397,272...69,484,174
Ensembl chr 9:69,401,517...69,484,019 		JBrowse link
G Selenop selenoprotein P ISO associated with systemic scleroderma;protein:decreased expression:serum RGD PMID:32630589 RGD:401827129 NCBI chr 2:54,225,736...54,236,022
Ensembl chr 2:54,225,152...54,236,019 		JBrowse link
G Sgo2 shugoshin 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:67,032,083...67,067,439
Ensembl chr 9:67,042,833...67,068,152 		JBrowse link
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25559809 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29684080 NCBI chr18:69,518,988...69,549,684
Ensembl chr18:69,518,988...69,549,684 		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:28492532 PMID:30029678 NCBI chr 2:141,106,668...141,156,477
Ensembl chr 2:141,106,668...141,156,477 		JBrowse link
G Sms spermine synthase ISO protein:increased expression:pulmonary arterial smooth muscle cell RGD PMID:38261723 RGD:597621636 NCBI chr  X:37,516,949...37,572,657
Ensembl chr  X:41,331,799...41,387,712 		JBrowse link
G Sod2 superoxide dismutase 2 IEP
ISO 		protein:decreased expression:pulmonary artery
protein:decreased expression:small pulmonary artery 		RGD PMID:20529999 PMID:20529999 RGD:27095884, RGD:27095884 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:50,043,325...50,050,168 		JBrowse link
G Sod3 superoxide dismutase 3 exacerbates IMP RGD PMID:21730301 RGD:14369425 NCBI chr14:62,822,865...62,828,602
Ensembl chr14:62,811,177...62,829,125 		JBrowse link
G Sod3m1Mcwi superoxide dismutase 3; mutation 1, Medical College of Wisconsin exacerbates IMP RGD PMID:21730301 RGD:14369425
G Sox17 SRY-box transcription factor 17 onset
susceptibility 		ISO associated with congenital heart disease;DNA:mutations:multiple (human)
protein:decreased expression:lung endothelium (human)
DNA:nonsense mutation:CDS:p.Q127* (human)
DNA:frameshift mutations, missense mutations, SNP:CDS, intron:multiple (human)
DNA:SNPs:enhancers: (rs10103692, rs13266183) (human)
ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: SOX17-related pulmonary arterial hypertension 		ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:30029678 PMID:36913491 PMID:33952808 More... RGD:329853313, RGD:329853317, RGD:329853326, RGD:329853735, RGD:329955464 NCBI chr 5:19,814,345...19,819,859
Ensembl chr 5:19,814,360...19,819,854 		JBrowse link
G Spats2l spermatogenesis associated, serine-rich 2-like ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:66,814,217...66,988,084
Ensembl chr 9:66,814,228...66,988,578 		JBrowse link
G Stradb STE20 related adaptor beta ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:67,908,277...67,927,224
Ensembl chr 9:67,908,309...67,927,222 		JBrowse link
G Sumo1 small ubiquitin-like modifier 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:68,572,901...68,602,803
Ensembl chr 9:68,572,911...68,602,890 		JBrowse link
G Tbx4 T-box transcription factor 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease ClinVar PMID:15106123 PMID:16199547 PMID:23592887 PMID:25741868 PMID:28492532 More... NCBI chr10:70,730,686...70,760,829
Ensembl chr10:71,197,727...71,258,218 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO mRNA:increased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:66,449,293...66,527,260 		JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:68,027,481...68,066,731
Ensembl chr 9:68,030,664...68,063,525 		JBrowse link
G Tnfrsf12a TNF receptor superfamily member 12A IEP mRNA:increased expression:right ventricle RGD PMID:23325387 RGD:596933101 NCBI chr10:13,211,670...13,213,666
Ensembl chr10:13,211,673...13,213,704 		JBrowse link
G Topbp1 DNA topoisomerase II binding protein 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr 8:112,766,791...112,815,203
Ensembl chr 8:112,766,508...112,810,540 		JBrowse link
G Trak2 trafficking kinesin protein 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:67,842,680...67,909,786
Ensembl chr 9:67,842,683...67,908,158 		JBrowse link
G Trpc4 transient receptor potential cation channel, subfamily C, member 4 ameliorates IMP RGD PMID:24113457 RGD:150429956 NCBI chr 2:140,457,841...140,629,556
Ensembl chr 2:140,458,296...140,626,969 		JBrowse link
G Trpc4Tn(sb)Tngen transient receptor potential cation channel, subfamily C, member 4; sleeping beauty induced mutant, Tngen ameliorates IMP RGD PMID:24113457 RGD:150429956
G Twist1 twist family bHLH transcription factor 1 ISO mRNA, protein:increased expression: pulmonary artery,lung: RGD PMID:25593290 RGD:38500244 NCBI chr 6:56,402,309...56,404,303
Ensembl chr 6:56,398,061...56,404,965 		JBrowse link
G Vim vimentin ISO protein:increased phosphorylation:lung RGD PMID:25593290 RGD:38500244 NCBI chr17:81,577,261...81,585,746
Ensembl chr17:81,568,272...81,585,746 		JBrowse link
G Wdr12 WD repeat domain 12 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:68,969,547...68,996,811
Ensembl chr 9:68,969,547...68,996,811 		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:10187774 PMID:10767348 PMID:11062473 More... NCBI chr 7:134,117,917...134,135,306
Ensembl chr 7:134,118,024...134,135,305 		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:15879500 More... NCBI chr 3:36,332,190...36,370,324
Ensembl chr 3:36,326,202...36,370,933 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      respiratory system disease 5247
        lower respiratory tract disease 2352
          lung disease 2314
            pulmonary hypertension 423
              Pulmonary Arterial Hypertension 107
                Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related 2
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      cardiovascular system disease 5558
        vascular disease 4039
          artery disease 2864
            hypertension 1632
              pulmonary hypertension 423
                Pulmonary Arterial Hypertension 107
                  Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related 2
paths to the root