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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, sub-family A (ABC1), 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 chr17:24,351,921...24,410,204
Ensembl chr17:24,351,950...24,410,201
JBrowse link
G Abi2 abl-interactor 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:60,405,768...60,481,945
Ensembl chr 1:60,409,619...60,481,158
JBrowse link
G Acvrl1 activin A receptor, type II-like 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 chr15:101,128,522...101,145,336
Ensembl chr15:101,128,522...101,145,336
JBrowse link
G Als2 alsin Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:59,162,756...59,237,231
Ensembl chr 1:59,162,926...59,237,231
JBrowse link
G Aox1 aldehyde oxidase 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:58,029,809...58,106,410
Ensembl chr 1:58,029,931...58,106,413
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 chr14:34,411,061...34,503,336
Ensembl chr14:34,410,734...34,503,341
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 3:141,837,135...142,169,585
Ensembl chr 3:141,837,136...142,169,425
JBrowse link
G Bmpr2 bone morphogenetic protein receptor, type II (serine/threonine kinase) ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
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 chr 1:59,764,279...59,878,081
Ensembl chr 1:59,763,400...59,879,014
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 1:58,392,898...58,407,354
Ensembl chr 1:58,392,898...58,407,353
JBrowse link
G C2cd6 C2 calcium dependent domain containing 6 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:58,997,116...59,095,023
Ensembl chr 1:58,997,116...59,094,900
JBrowse link
G Carf calcium response factor ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:60,098,221...60,153,953
Ensembl chr 1:60,098,247...60,153,953
JBrowse link
G Casp8 caspase 8 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:58,795,233...58,847,503
Ensembl chr 1:58,795,374...58,847,503
JBrowse link
G Cav1 caveolin 1, caveolae protein ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease ClinVar PMID:25741868, PMID:30029678 NCBI chr 6:17,306,335...17,341,328
Ensembl chr 6:17,306,335...17,341,452
JBrowse link
G Cd28 CD28 antigen ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:60,746,388...60,773,359
Ensembl chr 1:60,716,800...60,773,359
JBrowse link
G Cdh2 cadherin 2 ISO mRNA:increased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chr18:16,588,877...16,809,246
Ensembl chr18:16,588,877...16,809,246
JBrowse link
G Cdk15 cyclin-dependent kinase 15 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:59,256,861...59,352,497
Ensembl chr 1:59,256,906...59,352,993
JBrowse link
G Cflar CASP8 and FADD-like apoptosis regulator ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:58,711,311...58,758,884
Ensembl chr 1:58,711,508...58,758,884
JBrowse link
G Clk1 CDC-like kinase 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:58,411,988...58,424,088
Ensembl chr 1:58,410,189...58,424,066
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:60,909,025...60,915,832
Ensembl chr 1:60,887,000...60,915,832
JBrowse link
G Ctnnd1 catenin (cadherin associated protein), delta 1 ISO protein:decreased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chr 2:84,587,096...84,658,977
Ensembl chr 2:84,600,071...84,650,765
Ensembl chr 2:84,600,071...84,650,765
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 1:60,343,300...60,388,060
Ensembl chr 1:60,343,323...60,388,060
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 chr15:28,154,854...28,472,045
Ensembl chr15:28,203,752...28,472,052
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 chr 9:6,928,550...7,178,306
Ensembl chr 9:6,928,503...7,184,446
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 chr 2:118,388,583...118,475,234
Ensembl chr 2:118,388,618...118,475,234
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 chr 2:32,646,595...32,682,669
Ensembl chr 2:32,646,595...32,682,669
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 1:59,913,006...59,985,348
Ensembl chr 1:59,913,006...59,985,346
JBrowse link
G Fam126b family with sequence similarity 126, member B ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:58,522,806...58,586,333
Ensembl chr 1:58,522,806...58,586,323
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 1:58,656,926...58,696,008
Ensembl chr 1:58,646,903...58,695,989
JBrowse link
G Fzd7 frizzled class receptor 7 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:59,482,147...59,486,955
Ensembl chr 1:59,482,424...59,486,955
JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr14:57,098,602...57,104,702
Ensembl chr14:57,098,600...57,104,702
JBrowse link
G Hydin HYDIN, axonemal central pair apparatus protein ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr 8:110,266,968...110,610,253
Ensembl chr 8:110,266,977...110,610,253
JBrowse link
G Ica1l islet cell autoantigen 1-like ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:59,985,796...60,043,481
Ensembl chr 1:59,982,490...60,043,184
JBrowse link
G Icos inducible T cell co-stimulator ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:60,960,773...61,000,322
Ensembl chr 1:60,977,927...61,000,320
JBrowse link
G Itga5 integrin alpha 5 (fibronectin receptor alpha) ISO mRNA:increased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chr15:103,344,286...103,366,791
Ensembl chr15:103,344,286...103,366,763
JBrowse link
G Kcnk3 potassium channel, subfamily K, member 3 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 5:30,588,170...30,625,270
Ensembl chr 5:30,588,170...30,625,271
JBrowse link
G Kctd18 potassium channel tetramerisation domain containing 18 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:57,955,101...57,970,141
Ensembl chr 1:57,955,101...58,018,956
JBrowse link
G Mpp4 membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:59,120,935...59,163,389
Ensembl chr 1:59,120,935...59,163,389
JBrowse link
G Nbeal1 neurobeachin like 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:60,178,740...60,338,328
Ensembl chr 1:60,180,599...60,338,328
JBrowse link
G Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:58,586,397...58,595,964
Ensembl chr 1:58,586,384...58,595,964
JBrowse link
G Nif3l1 Ngg1 interacting factor 3-like 1 (S. pombe) ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:58,445,151...58,462,276
Ensembl chr 1:58,445,151...58,481,816
JBrowse link
G Nop58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:59,684,961...59,711,510
Ensembl chr 1:59,684,971...59,719,044
JBrowse link
G Orc2 origin recognition complex, subunit 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:58,462,771...58,505,113
Ensembl chr 1:58,462,771...58,505,109
JBrowse link
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr  X:52,912,214...52,956,961
Ensembl chr  X:52,912,266...52,956,943
JBrowse link
G Pms2 PMS1 homolog2, 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 chr 5:143,909,901...143,972,745
Ensembl chr 5:143,909,964...143,933,968
JBrowse link
G Ppil3 peptidylprolyl isomerase (cyclophilin)-like 3 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:58,430,993...58,445,591
Ensembl chr 1:58,430,994...58,445,486
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 1:60,471,180...60,567,074
Ensembl chr 1:60,482,292...60,567,104
JBrowse link
G Sgo2a shugoshin 2A ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:57,985,340...58,026,277
Ensembl chr 1:57,995,971...58,025,899
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 chr 3:54,755,455...54,801,662
Ensembl chr 3:54,755,582...54,801,257
JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO protein:decreased expression:pulmonary artery
protein:decreased expression:small pulmonary artery
RGD PMID:20529999, PMID:20529999 RGD:27095884, RGD:27095884 NCBI chr17:13,007,839...13,018,119
Ensembl chr17:13,006,846...13,040,063
JBrowse link
G Spats2l spermatogenesis associated, serine-rich 2-like ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:57,774,102...57,948,398
Ensembl chr 1:57,774,162...57,948,394
JBrowse link
G Stradb STE20-related kinase adaptor beta ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:58,973,522...58,995,122
Ensembl chr 1:58,973,522...58,995,715
JBrowse link
G Sumo1 small ubiquitin-like modifier 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:59,639,434...59,670,834
Ensembl chr 1:59,586,558...59,670,834
JBrowse link
G Tbx4 T-box 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 chr11:85,886,367...85,916,097
Ensembl chr11:85,886,422...85,916,097
JBrowse link
G Tgfbr1 transforming growth factor, beta receptor I ISO mRNA:increased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chr 4:47,353,222...47,414,926
Ensembl chr 4:47,353,222...47,414,931
JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:59,100,584...59,120,422
Ensembl chr 1:59,100,590...59,120,408
JBrowse link
G Trak2 trafficking protein, kinesin binding 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:58,900,449...58,974,345
Ensembl chr 1:58,900,449...58,973,430
JBrowse link
G Twist1 twist basic helix-loop-helix transcription factor 1 ISO mRNA, protein:increased expression: pulmonary artery,lung: RGD PMID:25593290 RGD:38500244 NCBI chr12:33,957,671...33,959,831
Ensembl chr12:33,957,671...33,959,829
JBrowse link
G Vim vimentin ISO protein:increased phosphorylation:lung RGD PMID:25593290 RGD:38500244 NCBI chr 2:13,574,311...13,582,826
Ensembl chr 2:13,573,927...13,582,826
JBrowse link
G Wdr12 WD repeat domain 12 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:60,071,361...60,098,500
Ensembl chr 1:60,069,785...60,098,645
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, type II-like 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 chr15:101,128,522...101,145,336
Ensembl chr15:101,128,522...101,145,336
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 chr 2:32,646,595...32,682,669
Ensembl chr 2:32,646,595...32,682,669
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13395
    disease of anatomical entity 12871
      respiratory system disease 2670
        lung disease 1655
          pulmonary hypertension 295
            Pulmonary Arterial Hypertension 59
              Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related 2
Path 2
Term Annotations click to browse term
  disease 13395
    disease of anatomical entity 12871
      cardiovascular system disease 3586
        vascular disease 2601
          artery disease 1699
            hypertension 865
              pulmonary hypertension 295
                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.