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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

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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 ABCC8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25117148 PMID:25741868 NCBI chr 1:47,494,861...47,578,818
Ensembl chr 1:47,494,959...47,578,882 		JBrowse link
G ABI2 abl interactor 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr10:89,074,333...89,314,144
Ensembl chr10:89,075,798...89,181,235 		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:11484689 PMID:12700602 PMID:14684682 PMID:15024723 More... NCBI chr11:48,063,099...48,091,705
Ensembl chr11:48,082,135...48,093,630 		JBrowse link
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr10:87,389,130...87,473,134 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 chr15:88,497,643...88,584,833
Ensembl chr15:88,497,648...88,557,494 		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 chr 9:44,944,463...45,108,832
Ensembl chr 9:44,941,460...45,027,275 		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 chr10:88,103,442...88,302,578
Ensembl chr10:88,106,072...88,303,734 		JBrowse link
G BZW1 basic leucine zipper and W2 domains 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr10:86,462,931...86,475,381
Ensembl chr10:86,463,010...86,473,740 		JBrowse link
G C2CD6 C2 calcium dependent domain containing 6 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr10:87,133,453...87,303,521
Ensembl chr10:87,133,461...87,302,735 		JBrowse link
G CARF calcium responsive transcription factor ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr10:88,650,436...88,735,369
Ensembl chr10:88,651,152...88,735,384 		JBrowse link
G CASP10 caspase 10 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr10:86,830,101...86,884,729
Ensembl chr10:86,830,589...86,871,200 		JBrowse link
G CASP8 caspase 8 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr10:86,888,654...86,944,159
Ensembl chr10:86,916,527...86,943,829 		JBrowse link
G CD28 CD28 molecule ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr10:89,471,710...89,505,152
Ensembl chr10:89,471,730...89,500,387 		JBrowse link
G CDK15 cyclin dependent kinase 15 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr10:87,499,225...87,592,748
Ensembl chr10:87,499,808...87,589,730 		JBrowse link
G CFLAR CASP8 and FADD like apoptosis regulator ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr10:86,768,252...86,819,963
Ensembl chr10:86,782,240...86,816,652 		JBrowse link
G CLK1 CDC like kinase 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr10:86,508,513...86,520,082 JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr10:89,637,176...89,644,436
Ensembl chr10:89,638,314...89,642,344 		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 chr10:88,986,394...89,051,344
Ensembl chr10:88,987,016...89,042,537 		JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:25741868 PMID:28492532 PMID:32581362 NCBI chr26:42,966,095...43,072,083
Ensembl chr26:42,962,447...43,072,001 		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 chr12:10,274,705...10,315,715
Ensembl chr12:10,275,064...10,315,040 		JBrowse link
G FAM117B family with sequence similarity 117 member B ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr10:88,370,979...88,513,138 JBrowse link
G FLACC1 flagellum associated containing coiled-coil domains 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr10:86,945,622...87,009,252
Ensembl chr10:86,946,674...87,007,579 		JBrowse link
G FZD7 frizzled class receptor 7 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr10:87,734,263...87,738,676
Ensembl chr10:87,734,872...87,736,596 		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 chr 9:44,087,502...44,092,975
Ensembl chr 9:44,089,358...44,092,484 		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 chr 3:801,786...808,165
Ensembl chr 3:807,379...808,059 		JBrowse link
G HYCC2 hyccin PI4KA lipid kinase complex subunit 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr10:86,645,109...86,723,148
Ensembl chr10:86,644,742...86,723,138 		JBrowse link
G HYDIN HYDIN axonemal central pair apparatus protein ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr 5:53,950,286...54,435,770
Ensembl chr 5:53,950,886...54,335,689 		JBrowse link
G ICA1L islet cell autoantigen 1 like ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr10:88,492,255...88,609,268
Ensembl chr10:88,517,716...88,569,031 		JBrowse link
G ICOS inducible T cell costimulator ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr10:89,706,755...89,732,600
Ensembl chr10:89,726,489...89,732,944 		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 chr11:5,085,221...5,088,135
Ensembl chr11:5,085,518...5,087,335 		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 chr14:80,905,168...80,945,972
Ensembl chr14:80,906,608...80,945,806 		JBrowse link
G KCTD18 potassium channel tetramerization domain containing 18 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr10:85,986,243...86,005,518
Ensembl chr10:85,987,397...86,002,429 		JBrowse link
G LOC103226816 ATP-binding cassette sub-family 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 5:2,171,487...2,218,851 JBrowse link
G LOC103246803 mismatch repair endonuclease PMS2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:6144131 PMID:16144131 PMID:16283678 PMID:18602922 PMID:19283792 More... NCBI chr28:15,174,359...15,209,962
Ensembl chr28:15,172,100...15,209,852 		JBrowse link
G MPP4 MAGUK p55 scaffold protein 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr10:87,328,555...87,382,894
Ensembl chr10:87,328,962...87,382,232 		JBrowse link
G NBEAL1 neurobeachin like 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr10:88,763,320...88,965,040
Ensembl chr10:88,764,111...88,963,364 		JBrowse link
G NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr10:86,723,212...86,735,837
Ensembl chr10:86,723,253...86,735,980 		JBrowse link
G NIF3L1 NGG1 interacting factor 3 like 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr10:86,545,392...86,593,386
Ensembl chr10:86,545,014...86,564,263 		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:32581362 NCBI chr10:87,989,687...88,026,774
Ensembl chr10:87,989,699...88,026,904 		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... NCBI chr12:1,656,815...1,707,566
Ensembl chr12:1,656,918...1,709,585 		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 6:13,762,570...13,803,676
Ensembl chr 6:13,761,512...13,793,359 		JBrowse link
G ORC2 origin recognition complex subunit 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr10:86,567,350...86,629,693
Ensembl chr10:86,564,332...86,629,855 		JBrowse link
G PAH phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:1301187 PMID:1682234 PMID:1769645 PMID:2044609 PMID:2574153 More... NCBI chr11:98,065,869...98,140,011
Ensembl chr11:98,063,199...98,139,285 		JBrowse link
G PHF6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr  X:109,531,700...109,595,136
Ensembl chr  X:109,531,726...109,593,854 		JBrowse link
G PPIL3 peptidylprolyl isomerase like 3 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr10:86,525,809...86,545,429
Ensembl chr10:86,521,640...86,543,516 		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 chr10:89,191,220...89,294,746
Ensembl chr10:89,192,772...89,250,757 		JBrowse link
G SGO2 shugoshin 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr10:86,019,474...86,075,905
Ensembl chr10:86,025,030...86,067,458 		JBrowse link
G SMAD1 SMAD family member 1 ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:21898662 NCBI chr 7:92,047,273...92,123,451
Ensembl chr 7:92,079,914...92,123,429 		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 chr18:29,894,157...29,951,445
Ensembl chr18:29,897,621...29,934,478 		JBrowse link
G SMAD9 SMAD family member 9 ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar NCBI chr 3:15,369,119...15,444,599
Ensembl chr 3:15,372,933...15,405,836 		JBrowse link
G SOX17 SRY-box transcription factor 17 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar NCBI chr 8:50,523,816...50,527,360
Ensembl chr 8:50,524,893...50,527,847 		JBrowse link
G SPATS2L spermatogenesis associated serine rich 2 like ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr10:85,804,609...85,975,998
Ensembl chr10:85,807,818...85,976,099 		JBrowse link
G STRADB STE20 related adaptor beta ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr10:87,096,768...87,127,131
Ensembl chr10:87,096,838...87,127,209 		JBrowse link
G SUMO1 small ubiquitin like modifier 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr10:87,917,324...87,957,152 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 chr16:32,677,878...32,715,169
Ensembl chr16:32,683,921...32,711,674 		JBrowse link
G TMEM237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr10:87,307,141...87,326,618
Ensembl chr10:87,307,903...87,327,299 		JBrowse link
G TOPBP1 DNA topoisomerase II binding protein 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr15:56,679,333...56,740,773
Ensembl chr15:56,679,426...56,741,566 		JBrowse link
G TRAK2 trafficking kinesin protein 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr10:87,022,038...87,096,685
Ensembl chr10:87,022,043...87,096,666 		JBrowse link
G WDR12 WD repeat domain 12 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr10:88,616,540...88,649,743
Ensembl chr10:88,616,797...88,649,418 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15273
    Developmental Disease 13265
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12391
        genetic disease 12047
          polygenic disease 740
            digenic disease 740
              primary pulmonary hypertension 111
                Primary Pulmonary Hypertension, 1 59
Path 2
Term Annotations click to browse term
  disease 15273
    disease of anatomical entity 14893
      cardiovascular system disease 4266
        heart disease 2993
          congestive heart failure 512
            Cor pulmonale 115
              chronic pulmonary heart disease 111
                primary pulmonary hypertension 111
                  Primary Pulmonary Hypertension, 1 59
paths to the root