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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
 primary_id: MESH:D000081029
 xref: EFO:0001361;   EFO:0001362;   EFO:0009054;   EFO:0009192;   EFO:0009194;   EFO:0009195;   EFO:0009197;   EFO:0009198

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show annotations for term's descendants           Sort by:
Pulmonary Arterial Hypertension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca3 ATP binding cassette subfamily A member 3 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:15976379 PMID:17597647 PMID:18246475 PMID:18317237 PMID:18603241 More... NCBI chrNW_004936694:1,735,206...1,778,100
Ensembl chrNW_004936694:1,736,207...1,778,116 		JBrowse link
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25117148 PMID:25741868 NCBI chrNW_004936528:1,608,782...1,682,873
Ensembl chrNW_004936528:1,608,757...1,682,975 		JBrowse link
G Abi2 abl interactor 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004936631:30,109...101,748
Ensembl chrNW_004936631:30,199...98,511 		JBrowse link
G Acvrl1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:11484689 PMID:15024723 PMID:15517393 PMID:15687131 PMID:16429404 More... NCBI chrNW_004936512:9,364,551...9,379,131
Ensembl chrNW_004936512:9,364,149...9,379,431 		JBrowse link
G Ahr aryl hydrocarbon receptor severity ISO CTD Direct Evidence: marker/mechanism
protein:increased activity:serum (human)		 CTD
RGD		 PMID:33836606 RGD:401940192 NCBI chrNW_004936546:3,737,908...3,783,492
Ensembl chrNW_004936546:3,737,851...3,783,588 		JBrowse link
G Ahsp alpha hemoglobin stabilizing protein ISO mRNA:altered expression: (human) RGD PMID:35710932 RGD:329961295 NCBI chrNW_004936543:8,317,344...8,325,273 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
Ensembl chrNW_004936726:939,341...1,015,799 		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
Ensembl chrNW_004936825:263,081...332,622 		JBrowse link
G Apln apelin treatment ISO RGD PMID:23867624 RGD:329848996 NCBI chrNW_004936479:1,889,930...1,899,811
Ensembl chrNW_004936479:1,890,229...1,899,730 		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 chrNW_004936711:325,978...400,374
Ensembl chrNW_004936711:354,020...397,145 		JBrowse link
G Axin2 axin 2 exacerbates ISO RGD PMID:28694128 RGD:151356920 NCBI chrNW_004936541:7,155,963...7,242,466
Ensembl chrNW_004936541:7,211,985...7,242,470 		JBrowse link
G Bmp7 bone morphogenetic protein 7 ISO protein:increased expression:lung, pulmonary artery (rat) RGD PMID:31542483 RGD:155888480 NCBI chrNW_004936530:71,965...143,940
Ensembl chrNW_004936530:71,920...143,940 		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:25741868 PMID:26467025 PMID:28492532 PMID:30029678 More... NCBI chrNW_004936804:52,435...115,289
Ensembl chrNW_004936804:48,947...115,412 		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
Ensembl chrNW_004936687:2,503,777...2,597,522 		JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 treatment ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease RGD
ClinVar		 PMID:3291115 PMID:10903931 PMID:10973254 PMID:11015450 PMID:11115378 More... RGD:329848996 NCBI chrNW_004936726:1,543,263...1,711,422
Ensembl chrNW_004936726:1,543,245...1,704,541 		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
Ensembl chrNW_004936726:1,922,060...2,010,981 		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
Ensembl chrNW_004936726:460,518...485,624 		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
Ensembl chrNW_004936726:554,758...595,922 		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
Ensembl chrNW_004936589:2,504,224...2,537,170 		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
Ensembl chrNW_004936631:335,411...363,407 		JBrowse link
G Cdh2 cadherin 2 ISO mRNA:increased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chrNW_004936550:6,885,484...7,067,001
Ensembl chrNW_004936550:6,886,706...6,945,056 		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
Ensembl chrNW_004936726:1,037,636...1,130,571 		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
Ensembl chrNW_004936726:381,835...423,311 		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
Ensembl chrNW_004936726:170,458...179,545 		JBrowse link
G Cp ceruloplasmin ISO associated with systemic scleroderma;protein:increased expression:serum RGD PMID:32630589 RGD:401827129 NCBI chrNW_004936519:6,431,156...6,473,183
Ensembl chrNW_004936519:6,431,144...6,481,858 		JBrowse link
G Creb1 cAMP responsive element binding protein 1 treatment ISO RGD PMID:33760143 RGD:401960860 NCBI chrNW_004936631:3,721,307...3,785,346
Ensembl chrNW_004936631:3,721,313...3,780,892 		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
Ensembl chrNW_004936631:484,356...489,643 		JBrowse link
G Ctnnd1 catenin delta 1 ISO protein:decreased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chrNW_004936581:4,750,845...4,802,262
Ensembl chrNW_004936581:4,750,947...4,802,289 		JBrowse link
G Ddah1 dimethylarginine dimethylaminohydrolase 1 exacerbates ISO compared to wild type RGD PMID:31402164 RGD:151347602 NCBI chrNW_004936608:262,653...397,753
Ensembl chrNW_004936608:262,445...397,762 		JBrowse link
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 PMID:28492532 PMID:32581362 NCBI chrNW_004936471:3,423,792...3,527,089
Ensembl chrNW_004936471:3,423,813...3,526,913 		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 chrNW_004936487:15,467,165...15,499,180
Ensembl chrNW_004936487:15,467,835...15,477,488 		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
Ensembl chrNW_004936726:1,753,652...1,843,405 		JBrowse link
G Fhit fragile histidine triad diadenosine triphosphatase ISO RGD PMID:30107138 RGD:329349307 NCBI chrNW_004936473:397,140...1,424,805
Ensembl chrNW_004936473:676,237...1,424,506 		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
Ensembl chrNW_004936726:600,420...625,853 		JBrowse link
G Fto FTO alpha-ketoglutarate dependent dioxygenase ISO protein:decreased expression:lung RGD PMID:34310344 RGD:329845886 NCBI chrNW_004936475:6,321,725...6,689,410
Ensembl chrNW_004936475:6,321,711...6,689,588 		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
Ensembl chrNW_004936726:1,256,678...1,275,467 		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 chrNW_004936554:7,307,461...7,322,048
Ensembl chrNW_004936554:7,316,435...7,322,060 		JBrowse link
G Gjb2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:17666888 PMID:25741868 PMID:30755392 NCBI chrNW_004936720:1,528,205...1,530,296
Ensembl chrNW_004936720:1,528,249...1,528,929 		JBrowse link
G Gpx3 glutathione peroxidase 3 ISO associated with systemic scleroderma;protein:decreased expression:serum RGD PMID:32630589 RGD:401827129 NCBI chrNW_004936647:3,904,787...3,914,223
Ensembl chrNW_004936647:3,906,113...3,913,498 		JBrowse link
G Htr1b 5-hydroxytryptamine receptor 1B ISO protein:increased expression:endothelium, smooth muscle, pulmonary artery RGD PMID:28473438 RGD:329955562 NCBI chrNW_004936890:154,252...157,044
Ensembl chrNW_004936890:155,233...156,408 		JBrowse link
G Hycc2 hyccin PI4KA lipid kinase complex subunit 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004936726:261,530...338,105
Ensembl chrNW_004936726:268,873...338,048 		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
Ensembl chrNW_004936726:1,853,868...1,902,788 		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
Ensembl chrNW_004936631:551,394...570,804 		JBrowse link
G Ifng interferon gamma treatment ISO RGD PMID:23867624 RGD:329848996 NCBI chrNW_004936545:6,139,130...6,144,543
Ensembl chrNW_004936545:6,139,116...6,148,452 		JBrowse link
G Igf1r insulin like growth factor 1 receptor treatment ISO RGD PMID:30240970 RGD:156430315 NCBI chrNW_004936483:4,563,995...4,860,231
Ensembl chrNW_004936483:4,564,512...4,852,925 		JBrowse link
G Il2 interleukin 2 treatment ISO RGD PMID:23867624 RGD:329848996 NCBI chrNW_004936662:1,594,953...1,599,625
Ensembl chrNW_004936662:1,594,953...1,599,625 		JBrowse link
G Impa1 inositol monophosphatase 1 ISO RGD PMID:30604625 RGD:126781711 NCBI chrNW_004936656:2,598,454...2,616,643
Ensembl chrNW_004936656:2,598,413...2,618,396 		JBrowse link
G Itga5 integrin subunit alpha 5 ISO mRNA:increased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chrNW_004936512:11,588,818...11,612,580
Ensembl chrNW_004936512:11,588,645...11,612,669 		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
Ensembl chrNW_004936493:5,770,103...5,772,326 		JBrowse link
G Kcnn4 potassium calcium-activated channel subfamily N member 4 ameliorates ISO RGD PMID:28679649 RGD:329955564 NCBI chrNW_004936706:940,585...952,484 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
Ensembl chrNW_004936825:398,875...413,993 		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
Ensembl chrNW_004936726:2,235,361...2,298,775 		JBrowse link
G Map3k7 mitogen-activated protein kinase kinase kinase 7 treatment ISO RGD PMID:35582418 RGD:155804297 NCBI chrNW_004936510:1,772,971...1,836,075
Ensembl chrNW_004936510:1,772,971...1,837,765 		JBrowse link
G Mpp4 MAGUK p55 scaffold protein 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004936726:893,411...938,876
Ensembl chrNW_004936726:892,550...938,969 		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
Ensembl chrNW_004936726:2,045,191...2,224,251 		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
Ensembl chrNW_004936726:338,423...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
Ensembl chrNW_004936726:195,010...232,429 		JBrowse link
G Nnmt nicotinamide N-methyltransferase ISO protein:increased activity,altered activity:lung, liver (rat) RGD PMID:27581040 RGD:401793717 NCBI chrNW_004936612:333,421...351,202
Ensembl chrNW_004936612:333,421...351,202 		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
Ensembl chrNW_004936726:1,457,002...1,486,530 		JBrowse link
G Nos3 nitric oxide synthase 3 treatment ISO RGD PMID:23867624 RGD:329848996 NCBI chrNW_004936527:6,427,147...6,445,770
Ensembl chrNW_004936527:6,427,093...6,446,534 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:15472075 PMID:16614245 PMID:18593716 PMID:19245433 PMID:19635999 More... NCBI chrNW_004936669:1,292,016...1,334,061
Ensembl chrNW_004936669:1,292,088...1,332,428 		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 chrNW_004936596:5,265,984...5,301,430
Ensembl chrNW_004936596:5,265,999...5,300,429 		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
Ensembl chrNW_004936726:211,859...255,754 		JBrowse link
G Park7 Parkinsonism associated deglycase exacerbates ISO RGD PMID:29069575 RGD:151347449 NCBI chrNW_004936623:2,422,780...2,436,817
Ensembl chrNW_004936623:2,422,833...2,436,817 		JBrowse link
G Pdcd4 programmed cell death 4 treatment ISO RGD PMID:30240970 RGD:156430315 NCBI chrNW_004936486:1,684,167...1,705,387
Ensembl chrNW_004936486:1,684,135...1,705,715 		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
Ensembl chrNW_004936691:716,697...768,016 		JBrowse link
G Pms2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:6144131 PMID:16144131 PMID:16283678 PMID:18602922 PMID:19283792 More... 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
Ensembl chrNW_004936726:181,140...194,821 		JBrowse link
G Ptgis prostaglandin I2 synthase treatment
susceptibility		 ISO human gene in a rat model
DNA:repeat, SNPs:promoter, intron: , 185C>T, 325C>A ( , rs5582, rs116939356) (human)		 RGD PMID:11034952 PMID:17635855 PMID:18612919 PMID:23841984 PMID:24605778 RGD:401901195 RGD:401901264 RGD:401959335 RGD:401959406 RGD:401959742 NCBI chrNW_004936514:4,775,884...4,814,574
Ensembl chrNW_004936514:4,791,031...4,812,027 		JBrowse link
G Ptprd protein tyrosine phosphatase receptor type D ISO mRNA:decreased expression:blood, pulmonary artery (human) RGD PMID:35848503 RGD:401976433 NCBI chrNW_004936539:2,564,815...3,369,975
Ensembl chrNW_004936539:2,564,793...2,945,293 		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
Ensembl chrNW_004936631:108,310...196,563 		JBrowse link
G Selenop selenoprotein P ISO associated with systemic scleroderma;protein:decreased expression:serum RGD PMID:32630589 RGD:401827129 NCBI chrNW_004936518:155,905...166,932 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
Ensembl chrNW_004936825:341,283...373,012 		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 chrNW_004936497:12,242,869...12,278,012
Ensembl chrNW_004936497:12,249,140...12,278,123 		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 chrNW_004936472:30,980,850...31,050,138
Ensembl chrNW_004936472:30,980,928...31,049,618 		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
Ensembl chrNW_004936489:11,178,015...11,191,781 		JBrowse link
G Sox17 SRY-box transcription factor 17 susceptibility
onset		 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension
DNA:SNPs:enhancers: (rs10103692, rs13266183) (human)
DNA:frameshift mutations, missense mutations, SNP:CDS, intron:multiple (human)		 ClinVar
RGD		 PMID:29650961 PMID:30527955 RGD:329853735 RGD:329955464 NCBI chrNW_004936496:1,248,582...1,251,406
Ensembl chrNW_004936496:1,248,577...1,251,430 		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
Ensembl chrNW_004936825:423,984...591,495 		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
Ensembl chrNW_004936726:709,038...731,338 		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
Ensembl chrNW_004936726:1,399,050...1,429,205 		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 chrNW_004936490:2,823,531...2,853,282
Ensembl chrNW_004936490:2,827,416...2,852,917 		JBrowse link
G Tgfbr1 transforming growth factor beta receptor 1 ISO mRNA:increased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chrNW_004936524:7,656,523...7,680,043
Ensembl chrNW_004936524:7,655,847...7,681,097 		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
Ensembl chrNW_004936726:869,238...891,283 		JBrowse link
G Topbp1 DNA topoisomerase II binding protein 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chrNW_004936529:6,788,713...6,841,824
Ensembl chrNW_004936529:6,788,187...6,841,888 		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
Ensembl chrNW_004936726:649,418...708,820 		JBrowse link
G Trpc4 transient receptor potential cation channel subfamily C member 4 ameliorates ISO RGD PMID:24113457 RGD:150429956 NCBI chrNW_004936472:31,710,873...31,909,106
Ensembl chrNW_004936472:31,711,040...31,843,876 		JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO mRNA, protein:increased expression: pulmonary artery,lung: RGD PMID:25593290 RGD:38500244 NCBI chrNW_004936546:5,331,220...5,332,669
Ensembl chrNW_004936546:5,331,863...5,332,555 		JBrowse link
G Vim vimentin ISO protein:increased phosphorylation:lung RGD PMID:25593290 RGD:38500244 NCBI chrNW_004936520:10,051,692...10,059,324
Ensembl chrNW_004936520:10,052,012...10,059,182 		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
Ensembl chrNW_004936726:1,931,183...1,958,215 		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:11170071 More... NCBI chrNW_004936512:9,364,551...9,379,131
Ensembl chrNW_004936512:9,364,149...9,379,431 		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 chrNW_004936487:15,467,165...15,499,180
Ensembl chrNW_004936487:15,467,835...15,477,488 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14511
    disease of anatomical entity 14163
      respiratory system disease 3172
        lower respiratory tract disease 2033
          lung disease 1996
            pulmonary hypertension 360
              Pulmonary Arterial Hypertension 92
                Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related 2
Path 2
Term Annotations click to browse term
  disease 14511
    disease of anatomical entity 14163
      cardiovascular system disease 4140
        vascular disease 2905
          artery disease 1927
            hypertension 954
              pulmonary hypertension 360
                Pulmonary Arterial Hypertension 92
                  Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related 2
paths to the root