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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_004624824:85,369...144,053
Ensembl chrNW_004624824:84,430...144,062 		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_004624766:9,018,616...9,092,365
Ensembl chrNW_004624766:9,018,721...9,092,287 		JBrowse link
G Abi2 abl interactor 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004624765:12,971,867...13,091,446
Ensembl chrNW_004624765:12,998,315...13,091,370 		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_004624816:402,412...426,217
Ensembl chrNW_004624816:404,358...426,217 		JBrowse link
G Ahr aryl hydrocarbon receptor severity ISO protein:increased activity:serum (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:33836606 RGD:401940192 NCBI chrNW_004624739:12,939,183...12,987,574
Ensembl chrNW_004624739:12,942,165...12,987,973 		JBrowse link
G Ahsp alpha hemoglobin stabilizing protein ISO mRNA:altered expression: (human) RGD PMID:35710932 RGD:329961295 NCBI chrNW_004624782:14,505,300...14,506,221
Ensembl chrNW_004624782:14,504,258...14,506,309 		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_004624899:74,080...170,565 JBrowse link
G Apln apelin treatment ISO RGD PMID:23867624 RGD:329848996 NCBI chrNW_004624797:8,857,490...8,866,157
Ensembl chrNW_004624797:8,857,070...8,866,329 		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_004624730:63,290,423...63,378,868
Ensembl chrNW_004624730:63,310,273...63,379,978 		JBrowse link
G Axin2 axin 2 exacerbates ISO RGD PMID:28694128 RGD:151356920 NCBI chrNW_004624870:2,803,743...2,832,489
Ensembl chrNW_004624870:2,800,873...2,832,626 		JBrowse link
G Bmp7 bone morphogenetic protein 7 ISO protein:increased expression:lung, pulmonary artery (rat) RGD PMID:31542483 RGD:155888480 NCBI chrNW_004624741:23,658,214...23,743,227
Ensembl chrNW_004624741:23,658,004...23,737,742 		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_004624841:218,642...304,744
Ensembl chrNW_004624841:219,133...265,397 		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_004624757:22,697,639...23,142,209
Ensembl chrNW_004624757:22,955,666...23,142,499 		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_004624765:13,849,689...13,950,839
Ensembl chrNW_004624765:13,857,062...13,947,683 		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_004624889:314,439...325,885
Ensembl chrNW_004624889:313,992...325,860 		JBrowse link
G C2cd6 C2 calcium dependent domain containing 6 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004624782:14,519,283...14,654,514 JBrowse link
G Carf calcium responsive transcription factor ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004624765:13,370,578...13,504,485
Ensembl chrNW_004624765:13,431,825...13,466,969 		JBrowse link
G Casp10 caspase 10 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004624889:31,132...63,774 JBrowse link
G Casp8 caspase 8 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004624899:427,064...450,931
Ensembl chrNW_004624899:424,363...451,087 		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_004624827:2,844,855...2,878,367
Ensembl chrNW_004624827:2,844,115...2,879,179 		JBrowse link
G Cd28 CD28 molecule ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004624765:12,650,092...12,667,168 JBrowse link
G Cdh2 cadherin 2 ISO mRNA:increased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chrNW_004624770:4,333,643...4,540,817
Ensembl chrNW_004624770:4,334,202...4,545,470 		JBrowse link
G Cdk15 cyclin dependent kinase 15 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004624765:14,550,267...14,641,749
Ensembl chrNW_004624765:14,555,207...14,641,545 		JBrowse link
G Cflar CASP8 and FADD like apoptosis regulator ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004624889:76,760...108,619
Ensembl chrNW_004624889:75,396...100,989 		JBrowse link
G Clk1 CDC like kinase 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004624889:301,304...309,591
Ensembl chrNW_004624889:302,124...311,101 		JBrowse link
G Cp ceruloplasmin ISO associated with systemic scleroderma;protein:increased expression:serum RGD PMID:32630589 RGD:401827129 NCBI chrNW_004624730:26,458,554...26,510,796
Ensembl chrNW_004624730:26,462,550...26,511,078 		JBrowse link
G Creb1 cAMP responsive element binding protein 1 treatment ISO RGD PMID:33760143 RGD:401960860 NCBI chrNW_004624765:8,374,160...8,436,969 JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324 		JBrowse link
G Ctnnd1 catenin delta 1 ISO protein:decreased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chrNW_004624864:2,953,357...3,000,355
Ensembl chrNW_004624864:2,951,556...3,006,529 		JBrowse link
G Ddah1 dimethylarginine dimethylaminohydrolase 1 exacerbates ISO compared to wild type RGD PMID:31402164 RGD:151347602 NCBI chrNW_004624742:12,027,450...12,170,003
Ensembl chrNW_004624742:12,026,248...12,170,147 		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_004624804:7,262,195...7,371,506
Ensembl chrNW_004624804:7,262,163...7,376,267 		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_004624760:7,703,979...7,735,636
Ensembl chrNW_004624760:7,703,820...7,734,457 		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_004624765:13,661,928...13,782,962
Ensembl chrNW_004624765:13,701,345...13,782,952 		JBrowse link
G Fhit fragile histidine triad diadenosine triphosphatase ISO RGD PMID:30107138 RGD:329349307 NCBI chrNW_004624822:6,621,609...8,069,590
Ensembl chrNW_004624822:6,621,909...7,380,047 		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_004624899:361,645...416,374
Ensembl chrNW_004624899:389,719...416,603 		JBrowse link
G Fto FTO alpha-ketoglutarate dependent dioxygenase ISO protein:decreased expression:lung RGD PMID:34310344 RGD:329845886 NCBI chrNW_004624757:2,675,810...3,081,751
Ensembl chrNW_004624757:2,675,671...3,080,480 		JBrowse link
G Fzd7 frizzled class receptor 7 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004624765:14,399,143...14,402,970 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_004624776:17,517,824...17,522,683
Ensembl chrNW_004624776:17,518,284...17,522,936 		JBrowse link
G Gpx3 glutathione peroxidase 3 ISO associated with systemic scleroderma;protein:decreased expression:serum RGD PMID:32630589 RGD:401827129 NCBI chrNW_004624733:40,957,895...40,963,469
Ensembl chrNW_004624733:40,957,999...40,962,993 		JBrowse link
G Htr1b 5-hydroxytryptamine receptor 1B ISO protein:increased expression:endothelium, smooth muscle, pulmonary artery RGD PMID:28473438 RGD:329955562 NCBI chrNW_004624819:4,425,271...4,429,165
Ensembl chrNW_004624819:4,427,827...4,428,999 		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_004624889:141,657...208,518 JBrowse link
G Hydin HYDIN axonemal central pair apparatus protein ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chrNW_004624746:12,997,012...13,417,034 JBrowse link
G Ica1l islet cell autoantigen 1 like ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004624765:13,547,437...13,687,641
Ensembl chrNW_004624765:13,588,073...13,687,250 		JBrowse link
G Icos inducible T cell costimulator ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004624765:12,351,695...12,417,847
Ensembl chrNW_004624765:12,352,042...12,372,861 		JBrowse link
G Ifng interferon gamma treatment ISO RGD PMID:23867624 RGD:329848996 NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534 		JBrowse link
G Igf1r insulin like growth factor 1 receptor treatment ISO RGD PMID:30240970 RGD:156430315 NCBI chrNW_004624768:5,396,027...5,688,435
Ensembl chrNW_004624768:5,396,156...5,681,809 		JBrowse link
G Il2 interleukin 2 treatment ISO RGD PMID:23867624 RGD:329848996 NCBI chrNW_004624777:2,885,537...2,890,453
Ensembl chrNW_004624777:2,885,535...2,890,453 		JBrowse link
G Impa1 inositol monophosphatase 1 ISO RGD PMID:30604625 RGD:126781711 NCBI chrNW_004624744:9,817,723...9,839,186
Ensembl chrNW_004624744:9,817,004...9,839,760 		JBrowse link
G Itga5 integrin subunit alpha 5 ISO mRNA:increased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chrNW_004624904:2,418,140...2,439,945
Ensembl chrNW_004624904:2,417,269...2,440,087 		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 chrNW_004624860:2,042,325...2,045,953
Ensembl chrNW_004624860:2,039,771...2,045,867 		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_004624738:8,813,683...8,850,744
Ensembl chrNW_004624738:8,813,644...8,848,783 		JBrowse link
G Kcnn4 potassium calcium-activated channel subfamily N member 4 ameliorates ISO RGD PMID:28679649 RGD:329955564 NCBI chrNW_004624907:1,266,348...1,279,258
Ensembl chrNW_004624907:1,266,348...1,278,699 		JBrowse link
G Kctd18 potassium channel tetramerization domain containing 18 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004624889:572,064...589,386 JBrowse link
G LOC101700295 cytochrome P450 20A1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004624765:13,108,937...13,159,580
Ensembl chrNW_004624765:13,105,816...13,159,574 		JBrowse link
G Map3k7 mitogen-activated protein kinase kinase kinase 7 treatment ISO RGD PMID:35582418 RGD:155804297 NCBI chrNW_004624799:3,554,644...3,623,317
Ensembl chrNW_004624799:3,554,678...3,622,289 		JBrowse link
G Mpp4 MAGUK p55 scaffold protein 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004624899:175,920...205,398 JBrowse link
G Nbeal1 neurobeachin like 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004624765:13,176,362...13,380,414
Ensembl chrNW_004624765:13,176,944...13,380,292 		JBrowse link
G Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004624889:126,294...141,572
Ensembl chrNW_004624889:131,732...141,915 		JBrowse link
G Nif3l1 NGG1 interacting factor 3 like 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004624889:273,072...284,777
Ensembl chrNW_004624889:273,397...282,426 		JBrowse link
G Nnmt nicotinamide N-methyltransferase ISO protein:increased activity,altered activity:lung, liver (rat) RGD PMID:27581040 RGD:401793717 NCBI chrNW_004624784:9,765,582...9,783,004
Ensembl chrNW_004624784:9,765,582...9,783,004 		JBrowse link
G Nop58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004624765:14,139,815...14,172,413 JBrowse link
G Nos3 nitric oxide synthase 3 treatment ISO RGD PMID:23867624 RGD:329848996 NCBI chrNW_004624800:5,600,215...5,619,020
Ensembl chrNW_004624800:5,600,212...5,619,004 		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_004624760:1,636,331...1,676,398
Ensembl chrNW_004624760:1,634,702...1,676,531 		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_004624901:2,292,257...2,328,433
Ensembl chrNW_004624901:2,292,640...2,328,433 		JBrowse link
G Orc2 origin recognition complex subunit 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004624889:224,658...269,815
Ensembl chrNW_004624889:227,510...268,784 		JBrowse link
G Park7 Parkinsonism associated deglycase exacerbates ISO RGD PMID:29069575 RGD:151347449 NCBI chrNW_004624818:3,900,917...3,915,457
Ensembl chrNW_004624818:3,900,917...3,911,042 		JBrowse link
G Pdcd4 programmed cell death 4 treatment ISO RGD PMID:30240970 RGD:156430315 NCBI chrNW_004624737:35,414,078...35,451,023 JBrowse link
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chrNW_004624797:14,081,381...14,140,180
Ensembl chrNW_004624797:14,081,302...14,128,487 		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_004624740:31,315,121...31,345,137 JBrowse link
G Ppil3 peptidylprolyl isomerase like 3 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004624889:283,570...294,949
Ensembl chrNW_004624889:286,039...293,755 		JBrowse link
G Ptgis prostaglandin I2 synthase susceptibility
treatment		 ISO DNA:repeat, SNPs:promoter, intron: , 185C>T, 325C>A ( , rs5582, rs116939356) (human)
human gene in a rat model		 RGD PMID:11034952 PMID:17635855 PMID:18612919 PMID:23841984 PMID:24605778 RGD:401901195 RGD:401901264 RGD:401959335 RGD:401959406 RGD:401959742 NCBI chrNW_004624790:5,850,647...5,885,754
Ensembl chrNW_004624790:5,850,810...5,886,014 		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_004624736:12,874,884...13,558,030
Ensembl chrNW_004624736:12,874,706...13,278,956 		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_004624765:12,867,547...12,994,605
Ensembl chrNW_004624765:12,922,083...12,990,363 		JBrowse link
G Selenop selenoprotein P ISO associated with systemic scleroderma;protein:decreased expression:serum RGD PMID:32630589 RGD:401827129 NCBI chrNW_004624759:12,207,251...12,218,857 JBrowse link
G Sgo2 shugoshin 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004624889:540,680...563,110
Ensembl chrNW_004624889:540,008...559,035 		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_004624778:14,570,025...14,629,950
Ensembl chrNW_004624778:14,570,348...14,630,325 		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_004624776:332,591...378,199 JBrowse link
G Sod2 superoxide dismutase 2 ISO protein:decreased expression:small pulmonary artery
protein:decreased expression:pulmonary artery		 RGD PMID:20529999 RGD:27095884 NCBI chrNW_004624855:3,260,800...3,271,864
Ensembl chrNW_004624855:3,260,809...3,271,367 		JBrowse link
G Sod3 superoxide dismutase 3 exacerbates ISO RGD PMID:21730301 RGD:14369425 NCBI chrNW_004624755:7,535,044...7,541,298
Ensembl chrNW_004624755:7,535,044...7,541,221 		JBrowse link
G Sox17 SRY-box transcription factor 17 onset
susceptibility		 ISO DNA:frameshift mutations, missense mutations, SNP:CDS, intron:multiple (human)
ClinVar Annotator: match by term: Pulmonary arterial hypertension
DNA:SNPs:enhancers: (rs10103692, rs13266183) (human)		 RGD
ClinVar		 PMID:29650961 PMID:30527955 RGD:329853735 RGD:329955464 NCBI chrNW_004624735:1,276,382...1,278,584
Ensembl chrNW_004624735:1,276,302...1,279,181 		JBrowse link
G Spats2l spermatogenesis associated serine rich 2 like ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004624889:596,019...737,072
Ensembl chrNW_004624889:596,024...716,310 		JBrowse link
G Stradb STE20 related adaptor beta ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004624899:255,042...275,258
Ensembl chrNW_004624899:255,042...275,235 		JBrowse link
G Sumo1 small ubiquitin like modifier 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004624765:14,205,071...14,229,864
Ensembl chrNW_004624765:14,205,051...14,229,864 		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_004624871:2,365,836...2,390,269
Ensembl chrNW_004624871:2,366,823...2,390,269 		JBrowse link
G Tgfbr1 transforming growth factor beta receptor 1 ISO mRNA:increased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chrNW_004624825:1,773,158...1,899,120
Ensembl chrNW_004624825:1,839,178...1,899,156 		JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004624899:209,810...239,404
Ensembl chrNW_004624899:206,878...238,737 		JBrowse link
G Topbp1 DNA topoisomerase II binding protein 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chrNW_004624730:9,916,717...9,994,666
Ensembl chrNW_004624730:9,914,140...9,994,775 		JBrowse link
G Trak2 trafficking kinesin protein 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004624899:275,291...335,555
Ensembl chrNW_004624899:300,096...332,392 		JBrowse link
G Trpc4 transient receptor potential cation channel subfamily C member 4 ameliorates ISO RGD PMID:24113457 RGD:150429956 NCBI chrNW_004624920:641,931...903,229
Ensembl chrNW_004624920:641,917...903,171 		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_004624739:11,352,040...11,354,019
Ensembl chrNW_004624739:11,352,141...11,352,809 		JBrowse link
G Vim vimentin ISO protein:increased phosphorylation:lung RGD PMID:25593290 RGD:38500244 NCBI chrNW_004624796:10,624,672...10,632,300
Ensembl chrNW_004624796:10,623,929...10,632,600 		JBrowse link
G Wdr12 WD repeat domain 12 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004624765:13,504,347...13,532,418
Ensembl chrNW_004624765:13,504,533...13,531,200 		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_004624816:402,412...426,217
Ensembl chrNW_004624816:404,358...426,217 		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_004624760:7,703,979...7,735,636
Ensembl chrNW_004624760:7,703,820...7,734,457 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14092
    disease of anatomical entity 13771
      respiratory system disease 3091
        lower respiratory tract disease 1980
          lung disease 1942
            pulmonary hypertension 361
              Pulmonary Arterial Hypertension 92
                Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related 2
Path 2
Term Annotations click to browse term
  disease 14092
    disease of anatomical entity 13771
      cardiovascular system disease 4080
        vascular disease 2868
          artery disease 1904
            hypertension 948
              pulmonary hypertension 361
                Pulmonary Arterial Hypertension 92
                  Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related 2
paths to the root