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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


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 chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745 		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 chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510 		JBrowse link
G Abi2 abl-interactor 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:61,827,186...61,905,703
Ensembl chr 9:61,827,139...61,905,699 		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 chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591 		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 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568 		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 1:182,880,076...182,885,506 		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 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737 		JBrowse link
G Aox1 aldehyde oxidase 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:59,579,621...59,658,772
Ensembl chr 9:59,579,649...59,658,770 		JBrowse link
G Apln apelin treatment ISO RGD PMID:23867624 RGD:329848996 NCBI chr  X:127,180,801...127,213,567
Ensembl chr  X:127,203,823...127,213,391 		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 chr11:70,364,998...70,442,005
Ensembl chr11:70,365,322...70,441,235 		JBrowse link
G Axin2 axin 2 exacerbates IMP RGD PMID:28694128 RGD:151356920 NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231 		JBrowse link
G Bmp7 bone morphogenetic protein 7 IEP protein:increased expression:lung, pulmonary artery (rat) RGD PMID:31542483 RGD:155888480 NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788 		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 chr16:9,736,390...9,829,825
Ensembl chr16:9,736,630...9,780,616 		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 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 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:10903931 PMID:10973254 PMID:11015450 PMID:11115378 More... RGD:329848996 NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809 		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 9:59,930,672...59,944,468
Ensembl chr 9:59,930,744...59,944,430 		JBrowse link
G C2cd6 C2 calcium dependent domain containing 6 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:60,434,926...60,530,842
Ensembl chr 9:60,434,925...60,530,806 		JBrowse link
G Carf calcium responsive transcription factor ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:61,502,368...61,552,433
Ensembl chr 9:61,506,956...61,550,462 		JBrowse link
G Casp8 caspase 8 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542 		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 chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705 		JBrowse link
G Cd28 Cd28 molecule ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685 		JBrowse link
G Cdh2 cadherin 2 ISO mRNA:increased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chr18:7,776,704...7,990,934
Ensembl chr18:7,776,704...7,990,167 		JBrowse link
G Cdk15 cyclin-dependent kinase 15 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:60,710,787...60,803,638
Ensembl chr 9:60,711,715...60,802,777 		JBrowse link
G Cflar CASP8 and FADD-like apoptosis regulator ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034 		JBrowse link
G Clk1 CDC-like kinase 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:59,947,774...59,959,002
Ensembl chr 9:59,947,764...59,957,000 		JBrowse link
G Cp ceruloplasmin ISO associated with systemic scleroderma;protein:increased expression:serum RGD PMID:32630589 RGD:401827129 NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075 		JBrowse link
G Creb1 cAMP responsive element binding protein 1 treatment IDA RGD PMID:33760143 RGD:401960860 NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G Ctnnd1 catenin delta 1 ISO protein:decreased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chr 3:69,683,328...69,734,550
Ensembl chr 3:69,683,313...69,734,516 		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 9:61,755,804...61,805,123
Ensembl chr 9:61,755,790...61,805,123 		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 2:234,667,491...234,799,339 		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 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 chr 3:105,356,261...105,441,630
Ensembl chr 3:105,356,261...105,441,630 		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 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230 		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 9:61,340,284...61,418,531
Ensembl chr 9:61,340,249...61,408,483 		JBrowse link
G Fhit fragile histidine triad diadenosine triphosphatase ISO RGD PMID:30107138 RGD:329349307 NCBI chr15:13,935,029...15,442,620
Ensembl chr15:13,934,995...15,442,340 		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 9:60,315,581...60,343,692
Ensembl chr 9:60,315,582...60,343,648 		JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase IEP protein:decreased expression:lung RGD PMID:34310344 RGD:329845886 NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083 		JBrowse link
G Fzd7 frizzled class receptor 7 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:60,931,433...60,934,252
Ensembl chr 9:60,930,875...60,935,781 		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 chr16:9,255,430...9,261,429
Ensembl chr16:9,255,430...9,261,429 		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 chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177 		JBrowse link
G Gpx3 glutathione peroxidase 3 ISO associated with systemic scleroderma;protein:decreased expression:serum RGD PMID:32630589 RGD:401827129 NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035 		JBrowse link
G H19 H19 imprinted maternally expressed transcript ameliorates
treatment		 ISO
IEP		 RGD PMID:30547791 PMID:30240970 RGD:155882573, RGD:156430315 NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134 		JBrowse link
G Htr1b 5-hydroxytryptamine receptor 1B ISO protein:increased expression:endothelium, smooth muscle, pulmonary artery RGD PMID:28473438 RGD:329955562 NCBI chr 8:82,513,572...82,534,670
Ensembl chr 8:82,517,360...82,534,549 		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 9:60,056,883...60,129,176
Ensembl chr 9:60,056,890...60,093,007 		JBrowse link
G Hydin Hydin, axonemal central pair apparatus protein ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr19:38,236,996...38,583,271
Ensembl chr19:38,236,464...38,583,264 		JBrowse link
G Ica1l islet cell autoantigen 1-like ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 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: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672 		JBrowse link
G Ifng interferon gamma treatment IEP RGD PMID:23867624 RGD:329848996 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor treatment IEP RGD PMID:30240970 RGD:156430315 NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Il2 interleukin 2 treatment IEP RGD PMID:23867624 RGD:329848996 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Impa1 inositol monophosphatase 1 ISO RGD PMID:30604625 RGD:126781711 NCBI chr 2:91,462,781...91,484,057
Ensembl chr 2:91,462,799...91,484,313 		JBrowse link
G Itga5 integrin subunit alpha 5 ISO mRNA:increased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chr 7:134,478,963...134,502,837
Ensembl chr 7:134,478,968...134,502,837 		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 4:159,354,689...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 arterial hypertension ClinVar PMID:32581362 NCBI chr 6:25,761,487...25,799,153
Ensembl chr 6:25,763,228...25,799,153 		JBrowse link
G Kcnn4 potassium calcium-activated channel subfamily N member 4 ameliorates IMP RGD PMID:28679649 RGD:329955564 NCBI chr 1:79,956,380...79,974,354
Ensembl chr 1:79,959,322...79,974,340 		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 9:59,502,232...59,566,857 		JBrowse link
G Map3k7 mitogen activated protein kinase kinase kinase 7 treatment IEP RGD PMID:35582418 RGD:155804297 NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597 		JBrowse link
G Mir140 microRNA 140 severity ISO miRNA:decreased expression:blood (human) RGD PMID:27214554 RGD:329337371 NCBI chr19:35,465,577...35,465,675
Ensembl chr19:35,465,577...35,465,675 		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 chr18:55,101,006...55,101,110
Ensembl chr18:55,101,006...55,101,110 		JBrowse link
G Mir17 microRNA 17 severity ISO miRNA:increased expression:blood RGD PMID:32600075 RGD:329349306 NCBI chr15:92,180,629...92,180,712
Ensembl chr15:92,180,629...92,180,712 		JBrowse link
G Mir200a microRNA 200a treatment IEP RGD PMID:30240970 RGD:156430315 NCBI chr 5:166,648,494...166,648,582 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:3,429,465...3,429,573
Ensembl chr  X:3,429,465...3,429,573 		JBrowse link
G Mir675 microRNA 675 treatment IEP RGD PMID:30240970 RGD:156430315 NCBI chr 1:197,732,275...197,732,358
Ensembl chr 1:197,732,275...197,732,358 		JBrowse link
G Mpp4 MAGUK p55 scaffold protein 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:60,569,734...60,613,035
Ensembl chr 9:60,569,734...60,611,797 		JBrowse link
G Nbeal1 neurobeachin-like 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:61,575,154...61,743,896
Ensembl chr 9:61,575,356...61,736,750 		JBrowse link
G Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:60,129,240...60,139,452
Ensembl chr 9:60,129,154...60,139,446 		JBrowse link
G Nif3l1 NGG1 interacting factor 3 like 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:59,980,101...60,001,490
Ensembl chr 9:59,979,799...60,000,131 		JBrowse link
G Nnmt nicotinamide N-methyltransferase IEP protein:increased activity,altered activity:lung, liver (rat) RGD PMID:27581040 RGD:401793717 NCBI chr 8:48,928,663...48,947,734
Ensembl chr 8:48,933,598...48,946,655 		JBrowse link
G Nop58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:61,120,939...61,144,810
Ensembl chr 9:61,120,929...61,144,810 		JBrowse link
G Nos3 nitric oxide synthase 3 treatment ISO RGD PMID:23867624 RGD:329848996 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		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 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531 		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 chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025 		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 9:60,001,910...60,038,195 		JBrowse link
G Park7 Parkinsonism associated deglycase exacerbates IMP RGD PMID:29069575 RGD:151347449 NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970 		JBrowse link
G Pdcd4 programmed cell death 4 treatment IEP RGD PMID:30240970 RGD:156430315 NCBI chr 1:252,921,342...252,944,278
Ensembl chr 1:252,921,392...252,944,275 		JBrowse link
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr  X:132,656,658...132,699,720
Ensembl chr  X:132,656,672...132,699,127 		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 chr12:10,676,818...10,701,161
Ensembl chr12:10,676,764...10,701,066 		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 9:59,964,919...59,979,886 		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 3:155,928,564...155,964,228
Ensembl chr 3:155,916,412...155,965,451 		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 5:90,046,993...90,698,977
NCBI chr 5:91,122,354...91,641,754
Ensembl chr 5:90,048,966...92,369,396 		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 9:61,907,476...61,990,170
Ensembl chr 9:61,907,758...61,961,209 		JBrowse link
G Selenop selenoprotein P ISO associated with systemic scleroderma;protein:decreased expression:serum RGD PMID:32630589 RGD:401827129 NCBI chr 2:52,498,123...52,508,409
Ensembl chr 2:52,498,339...52,508,852 		JBrowse link
G Sgo2 shugoshin 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:59,548,605...59,573,229
Ensembl chr 9:59,548,683...59,573,229 		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 chr18:67,243,742...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 arterial hypertension associated with congenital heart disease ClinVar PMID:25741868 PMID:28492532 PMID:30029678 NCBI chr 2:138,956,326...139,006,315
Ensembl chr 2:138,986,471...139,006,307 		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 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Sod3 superoxide dismutase 3 exacerbates IMP RGD PMID:21730301 RGD:14369425 NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990 		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 ClinVar Annotator: match by term: Pulmonary arterial hypertension
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
RGD		 PMID:30029678 PMID:36913491 PMID:33952808 PMID:29650961 PMID:30527955 RGD:329853313, RGD:329853317, RGD:329853326, RGD:329853735, RGD:329955464 NCBI chr 5:15,016,660...15,022,228
Ensembl chr 5:15,016,731...15,022,228 		JBrowse link
G Spats2l spermatogenesis associated, serine-rich 2-like ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:59,319,949...59,493,864
Ensembl chr 9:59,320,276...59,493,967 		JBrowse link
G Stradb STE20 related adaptor beta ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:60,414,182...60,433,084
Ensembl chr 9:60,414,182...60,433,084 		JBrowse link
G Sumo1 small ubiquitin-like modifier 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:61,078,790...61,108,697
Ensembl chr 9:61,077,435...61,108,761 		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 chr10:70,731,163...70,760,825 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO mRNA:increased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777 		JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:60,533,348...60,569,253
Ensembl chr 9:60,535,233...60,572,567 		JBrowse link
G Topbp1 DNA topoisomerase II binding protein 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr 8:103,887,805...103,931,662
Ensembl chr 8:103,887,865...103,931,674 		JBrowse link
G Trak2 trafficking kinesin protein 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:60,348,531...60,414,036
Ensembl chr 9:60,350,012...60,413,996 		JBrowse link
G Trpc4 transient receptor potential cation channel, subfamily C, member 4 ameliorates IMP RGD PMID:24113457 RGD:150429956 NCBI chr 2:138,307,676...138,476,856
Ensembl chr 2:138,308,084...138,476,768 		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 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653 		JBrowse link
G Vim vimentin ISO protein:increased phosphorylation:lung RGD PMID:25593290 RGD:38500244 NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187 		JBrowse link
G Wdr12 WD repeat domain 12 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:61,475,498...61,502,762
Ensembl chr 9:61,475,517...61,502,469 		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 chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591 		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 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      respiratory system disease 3615
        lower respiratory tract disease 2298
          lung disease 2261
            pulmonary hypertension 415
              Pulmonary Arterial Hypertension 106
                Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      cardiovascular system disease 5412
        vascular disease 4012
          artery disease 2825
            hypertension 1728
              pulmonary hypertension 415
                Pulmonary Arterial Hypertension 106
                  Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related 2
paths to the root