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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.


show annotations for term's descendants           Sort by:
 
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 chr16:1,132,435...1,196,226
Ensembl chr16:2,376,006...2,437,427
JBrowse link
G ABI2 abl interactor 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:90,561,708...90,663,072
Ensembl chr2B:208,702,092...208,797,499
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 chr12:36,839,869...36,856,351
Ensembl chr12:37,615,888...37,631,691
JBrowse link
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:88,954,167...89,034,764
Ensembl chr2B:207,108,952...207,189,623
JBrowse link
G AOX1 aldehyde oxidase 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:87,839,376...87,924,823
Ensembl chr2B:205,996,604...206,083,897
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 chr10:83,185,040...83,353,239
Ensembl chr10:86,837,469...86,912,912
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 4:87,125,911...87,523,084
Ensembl chr 4:98,088,072...98,195,848
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 chr2B:89,631,622...89,823,438
Ensembl chr2B:207,780,741...207,961,072
JBrowse link
G BZW1 basic leucine zipper and W2 domains 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:88,067,041...88,079,647
Ensembl chr2B:206,225,963...206,238,587
JBrowse link
G C2CD6 C2 calcium dependent domain containing 6 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:88,742,121...88,873,268 JBrowse link
G CARF calcium responsive transcription factor ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:90,145,504...90,224,042
Ensembl chr2B:208,291,742...208,367,028
JBrowse link
G CASP10 caspase 10 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:88,440,199...88,479,277
Ensembl chr2B:206,595,776...206,641,775
JBrowse link
G CASP8 caspase 8 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:88,490,611...88,542,132
Ensembl chr2B:206,669,544...206,696,468
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 7:108,497,125...108,533,090
Ensembl chr 7:121,193,424...121,229,655
JBrowse link
G CD28 CD28 molecule ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:90,938,795...90,971,438
Ensembl chr2B:209,076,388...209,111,213
JBrowse link
G CDH2 cadherin 2 ISO mRNA:increased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chr18:21,210,001...21,435,919
Ensembl chr18:24,812,019...25,008,325
JBrowse link
G CDK15 cyclin dependent kinase 15 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:89,060,334...89,149,106
Ensembl chr2B:207,215,058...207,304,029
JBrowse link
G CFLAR CASP8 and FADD like apoptosis regulator ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:88,373,057...88,429,959
Ensembl chr2B:206,528,943...206,577,045
JBrowse link
G CLK1 CDC like kinase 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:88,108,885...88,120,523
Ensembl chr2B:206,267,364...206,278,942
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
JBrowse link
G CTNND1 catenin delta 1 ISO protein:decreased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chr11:53,000,582...53,058,054
Ensembl chr11:56,470,174...56,527,593
JBrowse link
G CYP20A1 cytochrome P450 family 20 subfamily A member 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:90,473,024...90,539,177
Ensembl chr2B:208,615,273...208,672,731
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 chr 5:13,989,114...14,316,855
Ensembl chr 5:13,851,391...14,093,358
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 chr11:98,051,788...98,425,676
Ensembl chr11:101,536,471...101,909,194
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 chr15:18,871,867...18,973,380
Ensembl chr15:37,120,044...37,229,211
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 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641
JBrowse link
G FAM117B family with sequence similarity 117 member B ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:89,896,400...90,030,724
Ensembl chr2B:208,042,146...208,173,180
JBrowse link
G FAM126B family with sequence similarity 126 member B ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:88,231,222...88,329,311
Ensembl chr2B:206,395,627...206,487,785
JBrowse link
G FLACC1 flagellum associated containing coiled-coil domains 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:88,541,496...88,618,269
Ensembl chr2B:206,697,119...206,766,071
JBrowse link
G FZD7 frizzled class receptor 7 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:89,290,929...89,294,873
Ensembl chr2B:207,439,942...207,446,283
JBrowse link
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr13:1,514,714...1,520,239
Ensembl chr13:19,831,274...19,831,954
JBrowse link
G HYDIN HYDIN axonemal central pair apparatus protein ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr16:53,785,727...54,210,088
Ensembl chr16:70,661,924...71,063,631
JBrowse link
G ICA1L islet cell autoantigen 1 like ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:90,034,205...90,105,600
Ensembl chr2B:208,184,023...208,251,254
JBrowse link
G ICOS inducible T cell costimulator ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:91,168,998...91,193,808
Ensembl chr2B:209,307,938...209,332,734
JBrowse link
G ITGA5 integrin subunit alpha 5 ISO mRNA:increased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chr12:34,326,182...34,350,050
Ensembl chr12:35,052,994...35,075,835
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 chr2A:26,688,938...26,729,860
Ensembl chr2A:26,780,475...26,819,123
JBrowse link
G KCTD18 potassium channel tetramerization domain containing 18 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:87,742,323...87,763,530
Ensembl chr2B:205,900,032...205,920,776
JBrowse link
G LOC100976787 mismatch repair endonuclease PMS2 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 7:7,433,031...7,459,560
Ensembl chr 7:6,167,403...6,202,984
JBrowse link
G MPP4 membrane palmitoylated protein 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:88,898,091...88,951,597
Ensembl chr2B:207,053,077...207,102,360
JBrowse link
G NBEAL1 neurobeachin like 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:90,250,567...90,459,507
Ensembl chr2B:208,395,950...208,594,273
JBrowse link
G NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:88,329,424...88,343,180
Ensembl chr2B:206,487,905...206,501,709
JBrowse link
G NIF3L1 NGG1 interacting factor 3 like 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:88,145,137...88,161,319
Ensembl chr2B:206,303,931...206,319,810
JBrowse link
G NOP58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:89,520,961...89,558,794
Ensembl chr2B:207,674,654...207,707,763
JBrowse link
G ORC2 origin recognition complex subunit 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:88,166,351...88,221,618
Ensembl chr2B:206,325,661...206,380,647
JBrowse link
G PHF6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr  X:123,521,956...123,578,256
Ensembl chr  X:133,822,260...133,873,990
JBrowse link
G PPIL3 peptidylprolyl isomerase like 3 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:88,126,756...88,145,203 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 chr2B:90,664,717...90,766,088
Ensembl chr2B:208,765,847...208,865,624
JBrowse link
G SGO2 shugoshin 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:87,779,677...87,837,285
Ensembl chr2B:205,943,783...205,994,197
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 chr13:18,055,427...18,130,571
Ensembl chr13:36,486,597...36,521,646
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 chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
JBrowse link
G SPATS2L spermatogenesis associated serine rich 2 like ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:87,558,298...87,735,646
Ensembl chr2B:205,800,294...205,889,626
JBrowse link
G STRADB STE20 related adaptor beta ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:88,705,840...88,735,511
Ensembl chr2B:206,864,319...206,890,868
JBrowse link
G SUMO1 small ubiquitin like modifier 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:89,461,773...89,493,879 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 chr17:55,554,549...55,587,253
Ensembl chr17:60,677,518...60,705,413
JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 ISO mRNA:increased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chr 9:70,195,007...70,243,514
Ensembl chr 9:98,332,739...98,362,748
JBrowse link
G TMEM237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:88,873,362...88,896,689
Ensembl chr2B:207,028,061...207,051,206
JBrowse link
G TRAK2 trafficking kinesin protein 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:88,630,665...88,705,709
Ensembl chr2B:206,785,541...206,861,102
JBrowse link
G TWIST1 twist family bHLH transcription factor 1 ISO mRNA, protein:increased expression: pulmonary artery,lung: RGD PMID:25593290 RGD:38500244 NCBI chr 7:19,761,041...19,765,665 JBrowse link
G VIM vimentin ISO protein:increased phosphorylation:lung RGD PMID:25593290 RGD:38500244 NCBI chr10:17,546,389...17,554,702
Ensembl chr10:17,818,285...17,826,642
JBrowse link
G WDR12 WD repeat domain 12 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:90,112,037...90,145,520
Ensembl chr2B:208,260,696...208,291,783
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 chr12:36,839,869...36,856,351
Ensembl chr12:37,615,888...37,631,691
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 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12751
    disease of anatomical entity 12281
      respiratory system disease 2485
        lung disease 1508
          pulmonary hypertension 281
            Pulmonary Arterial Hypertension 60
              Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related 2
Path 2
Term Annotations click to browse term
  disease 12751
    disease of anatomical entity 12281
      cardiovascular system disease 3301
        vascular disease 2376
          artery disease 1594
            hypertension 813
              pulmonary hypertension 281
                Pulmonary Arterial Hypertension 60
                  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.