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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: PULMONARY ARTERIAL HYPERTENSION ASSOCIATED WITH CONGENITAL HEART DISEASE
 primary_id: MESH:D000081029
For additional species annotation, visit the Alliance of Genome Resources.


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Pulmonary Arterial Hypertension term browser
Symbol Object Name 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, PMID:18676873, PMID:22145626, PMID:22304854, PMID:22434821, PMID:22435821, PMID:22800827, PMID:22866751, PMID:23166334, PMID:24033266, PMID:24136335, PMID:24871971, PMID:25073622, PMID:25553246, PMID:25741868, PMID:27374344, PMID:29505158 NCBI chrNW_004955442:14,933,550...14,989,492
Ensembl chrNW_004955442:14,933,550...14,989,492
JBrowse link
G Abi2 abl interactor 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004955457:11,451,851...11,562,692
Ensembl chrNW_004955457:11,451,851...11,562,696
JBrowse link
G Acvrl1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:11484689, PMID:15687131, PMID:16470787, PMID:16540754, PMID:16752392, PMID:17786384, PMID:18159113, PMID:18498373, PMID:18673552, PMID:19767588, PMID:20056902, PMID:20501893, PMID:21378382, PMID:22632830, PMID:23298310, PMID:23919827, PMID:24753439, PMID:25741868, PMID:26387786, PMID:28492532, PMID:29650961, PMID:30311386, PMID:32581362 NCBI chrNW_004955547:2,278,548...2,293,865
Ensembl chrNW_004955547:2,279,042...2,294,443
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_004955403:22,449...104,577
Ensembl chrNW_004955403:22,449...104,948
JBrowse link
G Aox1 aldehyde oxidase 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004955403:827,538...875,856
Ensembl chrNW_004955403:828,066...872,218
JBrowse link
G Bmpr1a bone morphogenetic protein receptor type 1A ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease ClinVar PMID:25741868, PMID:28492532, PMID:30029678 NCBI chrNW_004955510:5,812,571...5,936,312
Ensembl chrNW_004955510:5,905,008...5,936,312
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_004955405:5,408,171...5,784,930
Ensembl chrNW_004955405:5,700,162...5,787,957
JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 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
PMID:3291115, PMID:10903931, PMID:10973254, PMID:11015450, PMID:11115378, PMID:11502704, PMID:12358323, PMID:12821254, PMID:14985116, PMID:15059534, PMID:15146475, PMID:15358693, PMID:15591269, PMID:15965979, PMID:16429395, PMID:16717148, PMID:18159113, PMID:18356561, PMID:18503968, PMID:19555857, PMID:20002458, PMID:20096498, PMID:20534176, PMID:21737554, PMID:21801371, PMID:23298310, PMID:23579436, PMID:23592887, PMID:23675998, PMID:24591673, PMID:25326637, PMID:25429696, PMID:25612240, PMID:25741868, PMID:26387786, PMID:28415675, PMID:28492532, PMID:29843651, PMID:30029678, PMID:30311386, PMID:30578397, PMID:32581362 NCBI chrNW_004955457:12,235,780...12,315,680
Ensembl chrNW_004955457:12,235,780...12,316,727
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_004955403:676,384...688,353
Ensembl chrNW_004955403:673,863...688,353
JBrowse link
G C2cd6 C2 calcium dependent domain containing 6 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004955493:8,356,859...8,518,863 JBrowse link
G Carf calcium responsive transcription factor ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004955457:11,853,256...11,947,909
Ensembl chrNW_004955457:11,896,492...11,936,229
JBrowse link
G Casp8 caspase 8 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004955403:322,082...348,591
Ensembl chrNW_004955403:322,555...347,053
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_004955432:22,258,262...22,292,403
Ensembl chrNW_004955432:22,258,250...22,292,403
JBrowse link
G Cd28 CD28 molecule ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004955457:11,159,769...11,253,099
Ensembl chrNW_004955457:11,162,282...11,192,991
JBrowse link
G Cdh2 cadherin 2 ISO mRNA:increased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chrNW_004955402:15,829,895...16,049,874
Ensembl chrNW_004955402:15,831,110...16,049,890
JBrowse link
G Cdk15 cyclin dependent kinase 15 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004955457:12,878,736...12,966,434
Ensembl chrNW_004955457:12,880,959...12,966,410
JBrowse link
G Cflar CASP8 and FADD like apoptosis regulator ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004955403:415,092...442,214
Ensembl chrNW_004955403:412,632...434,741
JBrowse link
G Clk1 CDC like kinase 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004955403:655,808...665,007
Ensembl chrNW_004955403:656,767...666,463
JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004955457:11,028,707...11,034,898
Ensembl chrNW_004955457:11,028,698...11,073,460
JBrowse link
G Ctnnd1 catenin delta 1 ISO protein:decreased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chrNW_004955511:2,658,879...2,705,992
Ensembl chrNW_004955511:2,658,858...2,703,958
JBrowse link
G Dnah5 dynein axonemal heavy chain 5 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:11788826, PMID:22416021, PMID:25186273, PMID:26228299, PMID:28492532, PMID:30311386 NCBI chrNW_004955426:3,105,631...3,406,587
Ensembl chrNW_004955426:3,106,410...3,353,502
JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:29068549, PMID:30311386 NCBI chrNW_004955412:6,267,726...6,518,888
Ensembl chrNW_004955412:6,268,214...6,518,468
JBrowse link
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004955416:6,897,897...7,005,602
Ensembl chrNW_004955416:6,897,848...7,009,965
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:12673790, PMID:15517393, PMID:15521985, PMID:16705692, PMID:18498373, PMID:19270816, PMID:21158752, PMID:22991266, PMID:23298310, PMID:23722869, PMID:24033266, PMID:25741868, PMID:26167679, PMID:26387786, PMID:28492532, PMID:30004997, PMID:30029678, PMID:32581362 NCBI chrNW_004955419:818,797...853,319
Ensembl chrNW_004955419:818,932...852,694
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_004955457:12,107,141...12,180,614 JBrowse link
G Fam126b family with sequence similarity 126 member B ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004955403:483,671...564,509
Ensembl chrNW_004955403:483,675...564,503
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_004955403:264,969...321,370
Ensembl chrNW_004955403:264,980...321,484
JBrowse link
G Fzd7 frizzled class receptor 7 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004955457:12,729,277...12,733,057
Ensembl chrNW_004955457:12,731,279...12,732,979
JBrowse link
G Gjb2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chrNW_004955497:987,213...989,477
Ensembl chrNW_004955497:988,422...989,099
JBrowse link
G Hydin HYDIN axonemal central pair apparatus protein ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chrNW_004955484:3,567,896...3,948,807
Ensembl chrNW_004955484:3,567,396...3,949,261
JBrowse link
G Ica1l islet cell autoantigen 1 like ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004955457:11,983,201...12,085,870
Ensembl chrNW_004955457:12,006,306...12,085,799
JBrowse link
G Icos inducible T cell costimulator ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004955457:10,934,390...10,952,318
Ensembl chrNW_004955457:10,934,341...10,952,404
JBrowse link
G Itga5 integrin subunit alpha 5 ISO mRNA:increased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chrNW_004955458:1,635,554...1,657,609
Ensembl chrNW_004955458:1,632,282...1,658,295
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_004955469:8,710,749...8,744,423
Ensembl chrNW_004955469:8,709,999...8,747,467
JBrowse link
G Kctd18 potassium channel tetramerization domain containing 18 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004955403:913,621...923,631 JBrowse link
G LOC102029370 cytochrome P450 20A1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004955457:11,585,851...11,646,764
Ensembl chrNW_004955457:11,584,584...11,647,153
JBrowse link
G Mpp4 membrane palmitoylated protein 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004955403:109,353...147,442
Ensembl chrNW_004955403:109,353...147,035
JBrowse link
G Nbeal1 neurobeachin like 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004955457:11,671,565...11,839,357
Ensembl chrNW_004955457:11,671,565...11,839,211
JBrowse link
G Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004955403:477,138...483,122
Ensembl chrNW_004955403:477,144...483,122
JBrowse link
G Nif3l1 NGG1 interacting factor 3 like 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004955403:628,069...640,703
Ensembl chrNW_004955403:628,924...640,703
JBrowse link
G Nop58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004955457:12,481,467...12,511,678
Ensembl chrNW_004955457:12,479,965...12,511,678
JBrowse link
G Orc2 origin recognition complex subunit 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004955403:576,268...628,068
Ensembl chrNW_004955403:577,955...628,068
JBrowse link
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chrNW_004955473:527,005...586,589 JBrowse link
G Pms2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:16144131, PMID:16283678, PMID:18602922, PMID:19283792, PMID:20205264, PMID:21239990, PMID:22658618, PMID:23012243, PMID:24033266, PMID:25525159, PMID:25637381, PMID:25741868, PMID:26467025, PMID:26895986, PMID:28492532, PMID:29489754 NCBI chrNW_004955460:13,762,854...13,791,462 JBrowse link
G Ppil3 peptidylprolyl isomerase like 3 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004955403:640,956...648,498 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_004955457:11,394,572...11,462,617 JBrowse link
G Sgo2 shugoshin 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004955403:879,354...905,605 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:30029678 NCBI chrNW_004955431:9,117,616...9,184,920 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_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163
JBrowse link
G Spats2l spermatogenesis associated serine rich 2 like ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004955403:930,622...1,085,906
Ensembl chrNW_004955403:930,622...1,013,777
JBrowse link
G Stradb STE20 related adaptor beta ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004955403:181,120...198,882
Ensembl chrNW_004955403:181,120...198,885
JBrowse link
G Sumo1 small ubiquitin like modifier 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004955457:12,538,974...12,565,803
Ensembl chrNW_004955457:12,538,480...12,565,803
JBrowse link
G Tbx4 T-box transcription factor 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease ClinVar PMID:25741868, PMID:30029678, PMID:32581362, PMID:32860008 NCBI chrNW_004955451:2,491,525...2,532,948
Ensembl chrNW_004955451:2,501,827...2,533,136
JBrowse link
G Tgfbr1 transforming growth factor beta receptor 1 ISO mRNA:increased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chrNW_004955419:26,490,899...26,546,349
Ensembl chrNW_004955419:26,490,899...26,547,017
JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004955403:148,181...173,350
Ensembl chrNW_004955403:148,183...172,386
JBrowse link
G Trak2 trafficking kinesin protein 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004955403:205,372...261,210
Ensembl chrNW_004955403:206,146...261,326
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_004955410:22,003,981...22,005,483 JBrowse link
G Vim vimentin ISO protein:increased phosphorylation:lung RGD PMID:25593290 RGD:38500244 NCBI chrNW_004955429:10,708,852...10,716,743
Ensembl chrNW_004955429:10,707,719...10,717,554
JBrowse link
G Wdr12 WD repeat domain 12 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chrNW_004955457:11,947,816...11,970,066
Ensembl chrNW_004955457:11,947,915...11,971,805
JBrowse link
Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related term browser
Symbol Object Name 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:10767348, PMID:11170071, PMID:11484689, PMID:12114496, PMID:12700602, PMID:12843319, PMID:14684682, PMID:15024723, PMID:15065824, PMID:15375013, PMID:15517393, PMID:15687131, PMID:15712271, PMID:15880681, PMID:16123970, PMID:16282348, PMID:16429404, PMID:16470787, PMID:16540754, PMID:16542389, PMID:16690726, PMID:16705692, PMID:16706966, PMID:17384219, PMID:17786384, PMID:18159113, PMID:18285823, PMID:18498373, PMID:18673552, PMID:19357124, PMID:20056902, PMID:20414677, PMID:20501893, PMID:21158752, PMID:21378382, PMID:21651515, PMID:22377182, PMID:22553411, PMID:22632830, PMID:22991266, PMID:23124896, PMID:23298310, PMID:23722869, PMID:23805858, PMID:23919827, PMID:24196379, PMID:25318803, PMID:25326635, PMID:25741868, PMID:25970827, PMID:26176610, PMID:26387786, PMID:28492532, PMID:30311386, PMID:32581362 NCBI chrNW_004955547:2,278,548...2,293,865
Ensembl chrNW_004955547:2,279,042...2,294,443
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:18156574, PMID:23919827, PMID:26387786, PMID:28492532 NCBI chrNW_004955419:818,797...853,319
Ensembl chrNW_004955419:818,932...852,694
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11814
    disease of anatomical entity 11367
      respiratory system disease 2326
        lung disease 1417
          pulmonary hypertension 270
            Pulmonary Arterial Hypertension 59
              Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related 2
Path 2
Term Annotations click to browse term
  disease 11814
    disease of anatomical entity 11367
      cardiovascular system disease 3150
        vascular disease 2260
          artery disease 1515
            hypertension 766
              pulmonary hypertension 270
                Pulmonary Arterial Hypertension 59
                  Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.