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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:Primary Pulmonary Hypertension, 1
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Accession:DOID:9009117 term browser browse the term
Synonyms:exact_synonym: PAH;   PHT;   PPH1;   PULMONARY ARTERIAL HYPERTENSION
 broad_synonym: BMPR2-RELATED CONDITION;   BMPR2-RELATED DISORDER
 related_synonym: PPH1 with HHT;   PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED;   PULMONARY HYPERTENSION, PRIMARY, FENFLURAMINE-ASSOCIATED;   Primary Pulmonary Hypertension 1, with Hereditary Hemorrhagic Telangiectasia
 primary_id: OMIM:178600
 xref: NCI:C174219



show annotations for term's descendants           Sort by:
Primary Pulmonary Hypertension, 1 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 More... NCBI chr 3:39,689,133...39,732,466
Ensembl chr 3:39,698,895...39,732,978
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 2:41,666,974...41,754,624
Ensembl chr 2:41,666,909...41,754,620
JBrowse link
G ABI2 abl interactor 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:106,776,627...106,903,889
Ensembl chr15:106,776,631...106,900,333
JBrowse link
G ACVRL1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:9245985 PMID:10767348 PMID:11484689 PMID:12114496 PMID:12700602 More... NCBI chr 5:17,267,483...17,284,155
Ensembl chr 5:17,268,130...17,286,276
JBrowse link
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:105,328,717...105,401,152
Ensembl chr15:105,328,719...105,401,093
JBrowse link
G AOX1 aldehyde oxidase 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:104,157,748...104,234,533
Ensembl chr15:104,157,527...104,236,006
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 chr13:131,391,793...131,476,123
Ensembl chr13:131,391,798...131,493,623
JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:24121792 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31727138 NCBI chr14:87,743,270...87,891,790
Ensembl chr14:87,742,459...87,891,790
JBrowse link
G BMPR2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia OMIM
ClinVar
PMID:3291115 PMID:9536098 PMID:10903931 PMID:10973254 PMID:11015450 More... NCBI chr15:105,971,577...106,132,496
Ensembl chr15:105,970,428...106,135,730
JBrowse link
G BZW1 basic leucine zipper and W2 domains 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:104,525,900...104,543,795
Ensembl chr15:104,525,451...104,543,783
JBrowse link
G C2CD6 C2 calcium dependent domain containing 6 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:105,159,814...105,250,918
Ensembl chr15:105,105,234...105,250,563
JBrowse link
G CARF calcium responsive transcription factor ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:106,410,245...106,482,502
Ensembl chr15:106,410,491...106,466,799
JBrowse link
G CASP10 caspase 10 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:104,858,082...104,895,941
Ensembl chr15:104,858,100...104,894,933
JBrowse link
G CASP8 caspase 8 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:104,923,659...104,948,470
Ensembl chr15:104,923,953...104,948,468
JBrowse link
G CD28 CD28 molecule ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:107,128,103...107,155,431
Ensembl chr15:107,128,203...107,162,935
JBrowse link
G CDK15 cyclin dependent kinase 15 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:105,401,170...105,506,112
Ensembl chr15:105,401,165...105,506,114
JBrowse link
G CFLAR CASP8 and FADD like apoptosis regulator ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:104,780,744...104,835,631
Ensembl chr15:104,781,616...104,835,630
JBrowse link
G CLK1 CDC like kinase 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:104,553,512...104,562,348
Ensembl chr15:104,553,430...104,562,171
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103
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 chr15:106,696,722...106,763,126
Ensembl chr15:106,696,717...106,765,131
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 chr 1:131,244,818...131,355,240
Ensembl chr 1:131,245,466...131,355,226
JBrowse link
G ENG endoglin ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:10625079 PMID:15517393 PMID:15521985 PMID:15879500 PMID:16690726 More... NCBI chr 1:268,309,379...268,343,861
Ensembl chr 1:268,309,400...268,343,783
JBrowse link
G FAM117B family with sequence similarity 117 member B ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:106,183,217...106,284,318
Ensembl chr15:106,183,205...106,284,313
JBrowse link
G FLACC1 flagellum associated containing coiled-coil domains 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:104,950,504...104,986,350
Ensembl chr15:104,942,349...104,985,722
JBrowse link
G FZD7 frizzled class receptor 7 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:105,644,164...105,648,860
Ensembl chr15:105,644,188...105,648,850
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 chr14:88,506,083...88,513,416
Ensembl chr14:88,507,399...88,513,375
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 chr11:774,090...781,252
Ensembl chr11:775,166...775,846
JBrowse link
G HYCC2 hyccin PI4KA lipid kinase complex subunit 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:104,665,720...104,747,688
Ensembl chr15:104,665,729...104,747,567
JBrowse link
G HYDIN HYDIN axonemal central pair apparatus protein ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr 6:13,895,276...14,307,790 JBrowse link
G ICA1L islet cell autoantigen 1 like ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:106,293,936...106,377,573
Ensembl chr15:106,295,934...106,377,579
JBrowse link
G ICOS inducible T cell costimulator ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:107,350,253...107,370,123
Ensembl chr15:107,350,203...107,370,119
JBrowse link
G KCNA5 potassium voltage-gated channel subfamily A member 5 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:20018952 PMID:21685056 PMID:23861362 PMID:24068186 PMID:25076992 More... NCBI chr 5:65,439,336...65,442,207
Ensembl chr 5:65,439,336...65,442,207
JBrowse link
G KCNK3 potassium two pore domain channel subfamily K member 3 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:23883380 PMID:32581362 NCBI chr 3:112,322,446...112,359,212
Ensembl chr 3:112,322,446...112,359,212
JBrowse link
G KCTD18 potassium channel tetramerization domain containing 18 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:104,070,208...104,099,300
Ensembl chr15:104,071,268...104,099,188
JBrowse link
G MPP4 MAGUK p55 scaffold protein 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:105,277,295...105,319,936
Ensembl chr15:105,277,073...105,323,578
JBrowse link
G NBEAL1 neurobeachin like 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:106,516,002...106,686,685
Ensembl chr15:106,517,304...106,680,337
JBrowse link
G NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:104,747,835...104,759,137
Ensembl chr15:104,747,678...104,759,139
JBrowse link
G NIF3L1 NGG1 interacting factor 3 like 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:104,583,736...104,606,507
Ensembl chr15:104,583,809...104,606,966
JBrowse link
G NOP58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:23579436 PMID:26387786 PMID:32581362 NCBI chr15:105,893,589...105,930,458
Ensembl chr15:105,893,637...105,930,459
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...
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 2:62,364,507...62,402,348
Ensembl chr 2:62,364,501...62,402,344
JBrowse link
G ORC2 origin recognition complex subunit 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:104,612,727...104,656,558
Ensembl chr15:104,613,610...104,656,492
JBrowse link
G PHF6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr  X:110,249,010...110,311,503
Ensembl chr  X:110,249,010...110,303,017
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 chr 3:5,118,002...5,145,634
Ensembl chr 3:5,118,018...5,145,628
JBrowse link
G PPIL3 peptidylprolyl isomerase like 3 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:104,569,138...104,583,752
Ensembl chr15:104,569,147...104,583,683
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 chr15:106,900,826...106,997,795 JBrowse link
G SGO2 shugoshin 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:104,099,378...104,150,723
Ensembl chr15:104,099,384...104,150,720
JBrowse link
G SMAD1 SMAD family member 1 ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:21898662 PMID:26387786 NCBI chr 8:82,907,557...82,987,909
Ensembl chr 8:82,908,527...82,968,994
JBrowse link
G SMAD4 SMAD family member 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:21898662 PMID:24728327 PMID:25502805 PMID:25559809 PMID:25741868 More... NCBI chr 1:100,521,843...100,633,501
Ensembl chr 1:100,589,850...100,628,029
JBrowse link
G SMAD9 SMAD family member 9 ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar NCBI chr11:12,705,652...12,727,981
Ensembl chr11:12,705,368...12,763,008
JBrowse link
G SOX17 SRY-box transcription factor 17 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar NCBI chr 4:76,854,218...76,857,143
Ensembl chr 4:76,854,150...76,857,148
JBrowse link
G SPATS2L spermatogenesis associated serine rich 2 like ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:103,879,416...104,060,525
Ensembl chr15:103,879,356...104,060,524
JBrowse link
G STRADB STE20 related adaptor beta ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:105,055,218...105,083,429
Ensembl chr15:105,055,274...105,126,927
JBrowse link
G SUMO1 small ubiquitin like modifier 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:105,820,237...105,850,099
Ensembl chr15:105,818,858...105,850,233
JBrowse link
G TBX4 T-box transcription factor 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:9536098 PMID:15106123 PMID:16199547 PMID:17576681 PMID:23592887 More... NCBI chr12:36,803,355...36,830,321
Ensembl chr12:36,802,354...36,834,327
JBrowse link
G TMEM237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:105,255,485...105,276,624
Ensembl chr15:105,252,479...105,276,970
JBrowse link
G TOPBP1 DNA topoisomerase II binding protein 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr13:74,768,251...74,846,377
Ensembl chr13:74,768,257...74,846,340
JBrowse link
G TRAK2 trafficking kinesin protein 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:104,991,261...105,056,054
Ensembl chr15:104,991,726...105,055,025
JBrowse link
G WDR12 WD repeat domain 12 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:106,380,748...106,410,723
Ensembl chr15:106,380,755...106,410,416
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17416
    Developmental Disease 17262
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17176
        genetic disease 17157
          polygenic disease 737
            digenic disease 737
              primary pulmonary hypertension 112
                Primary Pulmonary Hypertension, 1 59
Path 2
Term Annotations click to browse term
  disease 17416
    disease of anatomical entity 14866
      cardiovascular system disease 4318
        heart disease 3036
          congestive heart failure 550
            Cor pulmonale 116
              chronic pulmonary heart disease 112
                primary pulmonary hypertension 112
                  Primary Pulmonary Hypertension, 1 59
paths to the root