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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 hypertension
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Accession:DOID:6432 term browser browse the term
Definition:A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries. (DO)
Synonyms:exact_synonym: PHT
 narrow_synonym: PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED;   primary pulmonary hypertension, fenfluramine-associated
 primary_id: MESH:D006976
 xref: EFO:0001361;   ICD10CM:I27.20;   NCI:C3120
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
pulmonary hypertension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26780485 NCBI chr 6:38,679,312...38,712,868
Ensembl chr 6:38,679,324...38,712,648 		JBrowse link
G ACE angiotensin I converting enzyme ISO CTD Direct Evidence: marker/mechanism CTD PMID:12359135 NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358 		JBrowse link
G ACE2 angiotensin converting enzyme 2 treatment ISO CTD Direct Evidence: therapeutic
human protein in a rat model		 CTD
RGD		 PMID:25225206 PMID:31931441 RGD:40818280 NCBI chr  X:11,798,839...11,839,591
Ensembl chr  X:11,798,839...11,900,594 		JBrowse link
G ACVRL1 activin A receptor like type 1 susceptibility
disease_progression		 ISO CTD Direct Evidence: marker/mechanism
associated with hereditary haemorrhagic telangiectasia;DNA:missense mutations
DNA:mutations (human)
mRNA:increased expression:lung		 CTD
RGD		 PMID:14684682 PMID:17392319 PMID:20056902 PMID:26540443 RGD:1601116 RGD:1601117 RGD:5128837 NCBI chr27:3,075,373...3,090,549
Ensembl chr27:3,076,124...3,092,469 		JBrowse link
G ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide ISO RGD PMID:20431245 RGD:5128886 NCBI chr32:21,249,459...21,261,130
Ensembl chr32:21,249,739...21,265,048 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO RGD PMID:19168697 RGD:5686821 NCBI chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844 		JBrowse link
G ADM adrenomedullin ISO RGD PMID:14718403 RGD:1625305 NCBI chr21:33,472,197...33,474,472
Ensembl chr21:33,471,623...33,474,495 		JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO protein:increased expression:lung (human) RGD PMID:21041689 RGD:7244258 NCBI chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129 		JBrowse link
G AGT angiotensinogen ISO RGD PMID:21381494 RGD:5129162 NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880 		JBrowse link
G AGTR1 angiotensin II receptor type 1 onset ISO DNA:polymorphism:3' utr:1166A>C (human) RGD PMID:19332265 RGD:5147450 NCBI chr23:43,569,658...43,617,113
Ensembl chr23:43,614,035...43,616,238 		JBrowse link
G AHR aryl hydrocarbon receptor ameliorates ISO 6-formylindolo[3,2-b]carbazole (FICZ)|semaxanib (CHEBI:91083)
compared to wild type littermates		 RGD PMID:33836606 RGD:401940192 NCBI chr14:31,743,704...31,793,484
Ensembl chr14:31,686,170...31,791,444 		JBrowse link
G ALAS1 5'-aminolevulinate synthase 1 ISO mRNA:increased expression:lung (rat) RGD PMID:16181105 RGD:4144185 NCBI chr20:37,552,813...37,566,417
Ensembl chr20:37,552,814...37,566,638 		JBrowse link
G ALOX5 arachidonate 5-lipoxygenase treatment ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:artery		 RGD
CTD		 PMID:8647941 PMID:9445303 PMID:14726295 PMID:31462075 RGD:14975304 RGD:1626154 RGD:4890418 RGD:734558 NCBI chr28:2,170,920...2,218,765
Ensembl chr28:2,170,920...2,219,609 		JBrowse link
G ALOX5AP arachidonate 5-lipoxygenase activating protein ISO protein:increased expression:artery RGD PMID:8647941 PMID:9445303 RGD:1626154 RGD:734558 NCBI chr25:9,320,868...9,351,056
Ensembl chr25:9,320,864...9,351,836 		JBrowse link
G ANGPT1 angiopoietin 1 ISO protein:decreased expression:pulmonary artery RGD PMID:18073453 RGD:2316069 NCBI chr13:8,068,920...8,312,090
Ensembl chr13:8,048,205...8,311,618 		JBrowse link
G ANGPT2 angiopoietin 2 ISO protein:increased expression:pulmonary artery (rat) RGD PMID:19712575 RGD:2314185 NCBI chr16:58,404,049...58,458,344
Ensembl chr16:58,405,259...58,457,701 		JBrowse link
G APLN apelin ISO protein:decreased expression:plasma RGD PMID:16263185 RGD:1626175 NCBI chr  X:100,863,360...100,873,105 JBrowse link
G ARG2 arginase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24951775 NCBI chr 8:41,588,051...41,619,406
Ensembl chr 8:41,588,150...41,619,402 		JBrowse link
G ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 treatment ISO RGD PMID:23804254 PMID:27144451 RGD:13782086 RGD:13782089 NCBI chr26:8,148,181...8,209,392
Ensembl chr26:8,148,236...8,209,388 		JBrowse link
G ATP5F1A ATP synthase F1 subunit alpha treatment ISO chronic thromboembolic pulmonary hypertension RGD PMID:21396162 RGD:13703061 NCBI chr 7:45,118,188...45,127,048
Ensembl chr 7:45,117,657...45,127,048 		JBrowse link
G ATP5PF ATP synthase peripheral stalk subunit F6 treatment ISO mRNA, protein:increased expression:lung, plasma (rat) RGD PMID:27491388 PMID:27916219 RGD:13800892 RGD:13800894 NCBI chr31:21,207,080...21,212,220
Ensembl chr31:21,200,337...21,215,975 		JBrowse link
G ATP7A ATPase copper transporting alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614111 NCBI chr  X:60,203,336...60,356,525
Ensembl chr  X:60,203,270...60,352,869 		JBrowse link
G B9D2 B9 domain containing 2 onset ISO DNA:SNPs: :multiple (human)
protein:increased expression:blood		 RGD PMID:18496036 PMID:19324949 RGD:4145138 RGD:4145273 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885 		JBrowse link
G BCL2 BCL2 apoptosis regulator ISO protein:decreased expression:heart right ventricle RGD PMID:18441466 RGD:2293022 NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658 		JBrowse link
G BCL2L1 BCL2 like 1 treatment ISO RGD PMID:22559233 RGD:10400914 NCBI chr24:21,145,214...21,209,425
Ensembl chr24:21,145,215...21,196,355 		JBrowse link
G BDKRB2 bradykinin receptor B2 ISO RGD PMID:15878794 RGD:4890453 NCBI chr 8:64,974,588...65,005,682
Ensembl chr 8:64,974,997...65,003,407 		JBrowse link
G BIRC5 baculoviral IAP repeat containing 5 ISO protein:increased expression:pulmonary artery RGD PMID:15931388 RGD:2293135 NCBI chr 9:2,930,308...2,959,307 JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A ISO RGD PMID:19324947 RGD:5129472 NCBI chr 4:34,499,898...34,582,481
Ensembl chr 4:34,517,492...34,578,923 		JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B ISO RGD PMID:19324947 RGD:5129472 NCBI chr32:17,761,555...17,978,056
Ensembl chr32:17,870,904...18,016,444 		JBrowse link
G BMPR2 bone morphogenetic protein receptor type 2 disease_progression
treatment		 ISO DNA:missense mutations (human)
ClinVar Annotator: match by term: Pulmonary hypertension		 RGD
ClinVar		 PMID:19785764 PMID:21737550 PMID:25741868 RGD:38500243 RGD:5129239 NCBI chr37:11,342,292...11,540,199
Ensembl chr37:11,342,384...11,533,024 		JBrowse link
G BRD4 bromodomain containing 4 ISO CTD Direct Evidence: therapeutic CTD PMID:26224795 NCBI chr20:46,844,795...46,927,620
Ensembl chr20:46,891,514...46,927,608 		JBrowse link
G CA9 carbonic anhydrase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20110409 NCBI chr11:52,205,619...52,211,281
Ensembl chr11:52,205,668...52,211,267 		JBrowse link
G CASR calcium sensing receptor ISO protein:increased expression:pulmonary artery (rat) RGD PMID:22730443 RGD:7205669 NCBI chr33:25,340,822...25,432,814
Ensembl chr33:25,405,846...25,432,559 		JBrowse link
G CAV1 caveolin 1 treatment ISO idiopathic pulmonary arterial hypertension (IPAH) RGD PMID:15353500 PMID:17470567 PMID:23538027 RGD:1581153 RGD:1625360 RGD:8662276 NCBI chr14:55,458,934...55,494,563
Ensembl chr14:55,461,048...55,492,935 		JBrowse link
G CAVIN1 caveolae associated protein 1 ISO OMIM:615371 MouseDO NCBI chr 9:20,511,079...20,525,973
Ensembl chr 9:20,511,089...20,524,794 		JBrowse link
G CBLN2 cerebellin 2 precursor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23502781 NCBI chr 1:6,378,153...6,384,559
Ensembl chr 1:6,376,777...6,382,024 		JBrowse link
G CCL1 C-C motif chemokine ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22507635 NCBI chr 9:38,931,895...38,936,969
Ensembl chr 9:38,933,514...38,961,187 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO protein:increased expression:lung, plasma
protein:increased expression:bronchoalveolar lavage fluid (rat)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:9605182 PMID:15302794 PMID:19087668 PMID:30418988 RGD:2307003 RGD:8549547 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO protein:increased secretion:serum (human) RGD PMID:19932032 RGD:4891440 NCBI chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852 		JBrowse link
G CCN2 cellular communication network factor 2 ISO protein:increased expression:pulmonary artery (rat) RGD PMID:19234054 RGD:2314535 NCBI chr 1:25,508,082...25,511,058
Ensembl chr 1:25,507,662...25,510,145 		JBrowse link
G CD209 CD209 molecule ISO RGD PMID:17107989 RGD:5131187 NCBI chr20:52,517,759...52,542,085
Ensembl chr20:52,518,036...52,520,942 		JBrowse link
G CD28 CD28 molecule ISO RGD PMID:19075187 RGD:5131619 NCBI chr37:12,503,849...12,536,362
Ensembl chr37:12,503,811...12,532,854 		JBrowse link
G CD40 CD40 molecule treatment ISO RGD PMID:25998782 RGD:11344970 NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301 		JBrowse link
G CD40LG CD40 ligand ISO protein:increased expression:serum (rat)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:15302794 PMID:25998782 RGD:11344970 NCBI chr  X:107,001,421...107,023,007
Ensembl chr  X:107,010,890...107,023,006 		JBrowse link
G CD86 CD86 molecule ISO protein:decreased expression:blood, myeloid dendritic cell (human) RGD PMID:19693657 RGD:4892293 NCBI chr33:25,256,267...25,318,855
Ensembl chr33:25,256,267...25,318,087 		JBrowse link
G CDH5 cadherin 5 ISO protein:decreased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chr 5:82,830,505...82,863,931
Ensembl chr 5:82,830,939...82,863,882 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A treatment ISO RGD PMID:24334871 PMID:24412385 RGD:10043360 RGD:10043361 NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B treatment ISO RGD PMID:22383500 RGD:10045357 NCBI chr27:33,609,154...33,613,558
Ensembl chr27:33,611,760...33,612,906 		JBrowse link
G CLU clusterin ISO RGD PMID:25069740 RGD:9068424 NCBI chr25:29,982,811...29,999,565
Ensembl chr25:29,982,811...29,999,563 		JBrowse link
G COL1A1 collagen type I alpha 1 chain treatment ISO RGD PMID:25867313 RGD:11041577 NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain treatment ISO RGD PMID:25867313 RGD:11041577 NCBI chr22:58,511,210...58,651,949
Ensembl chr22:58,512,212...58,588,666 		JBrowse link
G CRP C-reactive protein ISO associated with Pulmonary Disease, Chronic Obstructive RGD PMID:22333502 RGD:6482312 NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166 		JBrowse link
G CRSP-3 calcitonin receptor-stimulating peptide 3 ISO CTD Direct Evidence: therapeutic CTD PMID:1357980 NCBI chr21:37,676,841...37,680,643
Ensembl chr21:37,676,841...37,680,645 		JBrowse link
G CSF3 colony stimulating factor 3 treatment ISO RGD PMID:12524378 PMID:17186992 RGD:11039432 RGD:11039539 NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108 		JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO mRNA, protein:increased expression:lung
associated with Heart Defects, Congenital		 RGD PMID:18630689 PMID:19948918 PMID:20869263 RGD:4891883 RGD:4891887 RGD:4891889 NCBI chr 2:59,022,794...59,032,095
Ensembl chr 2:59,022,794...59,032,095 		JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 ISO mRNA, protein:increased expression:lung
associated with Scleroderma, Systemic;DNA:polymorphisms: :p.V249I, p.T280M (human)		 RGD PMID:16584113 PMID:17182651 RGD:4891893 RGD:4891896 NCBI chr23:8,937,069...8,954,738
Ensembl chr23:8,938,906...8,952,808 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15302794 NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354 		JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 treatment ISO RGD PMID:21294880 RGD:6480473 NCBI chr19:38,874,650...38,877,740
Ensembl chr19:38,874,145...38,877,740 		JBrowse link
G CYBA cytochrome b-245 alpha chain ISO associated with Anoxia;mRNA, protein:increased expression:lung RGD PMID:18424632 PMID:18952568 RGD:4762683 RGD:4773907 NCBI chr 5:64,692,865...64,701,056
Ensembl chr 5:64,692,123...64,704,893 		JBrowse link
G CYBB cytochrome b-245 beta chain treatment ISO associated with Anoxia RGD PMID:18424632 PMID:18952568 RGD:4762683 RGD:4773907 NCBI chr  X:32,533,365...32,568,149
Ensembl chr  X:32,533,320...32,568,217 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO mRNA,protein:increased expression:lung RGD PMID:28956952 RGD:13702097 NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866 		JBrowse link
G CYP2J2 cytochrome P450 family 2 subfamily J member 2 ISO RGD PMID:20118222 RGD:7243137 NCBI chr 5:49,942,241...49,986,603
Ensembl chr 5:49,942,193...49,984,617 		JBrowse link
G CYSLTR1 cysteinyl leukotriene receptor 1 ISO associated with Anoxia RGD PMID:12910720 RGD:4848274 NCBI chr  X:60,462,290...60,513,155
Ensembl chr  X:60,463,526...60,464,548 		JBrowse link
G DLL4 delta like canonical Notch ligand 4 ISO RGD PMID:34739767 RGD:155646132 NCBI chr30:8,059,463...8,068,742
Ensembl chr30:8,059,512...8,067,940 		JBrowse link
G DOHH deoxyhypusine hydroxylase ISO protein:increased expression:pulmonary artery,right ventricle RGD PMID:38261723 RGD:597621636 NCBI chr20:55,896,919...55,906,326
Ensembl chr20:55,897,382...55,906,357 		JBrowse link
G ECE1 endothelin converting enzyme 1 ISO associated with Anoxia; RGD PMID:18767389 RGD:7243939 NCBI chr 2:77,732,645...77,793,950
Ensembl chr 2:77,678,686...77,792,114 		JBrowse link
G EDN1 endothelin 1 ISO Hypertension, Heritable Pulmonary Artery; mRNA:increased expression:bone marrow, macrophage (mouse)
CTD Direct Evidence: marker/mechanism
Hypertension, Portopulmonary; protein:increased secretion:plasma (human)
associated with Pulmonary Disease, Chronic Obstructive; protein:increased secretion:plasma (human)
mRNA:increased expression:lung (rat)		 RGD
CTD		 PMID:7549228 PMID:9918753 PMID:12391278 PMID:20498147 PMID:20562228 More... RGD:4144128 RGD:4144865 RGD:4144877 RGD:4144882 NCBI chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383 		JBrowse link
G EDN2 endothelin 2 ISO RGD PMID:10598486 RGD:1580918 NCBI chr15:1,647,966...1,654,272
Ensembl chr15:1,648,077...1,654,272 		JBrowse link
G EDNRA endothelin receptor type A ISO RGD PMID:15243299 PMID:18506008 PMID:20531217 PMID:20562228 RGD:1580949 RGD:4144877 RGD:4892283 RGD:4892320 NCBI chr15:45,823,472...45,878,527
Ensembl chr15:45,823,560...45,876,463 		JBrowse link
G EDNRB endothelin receptor type B ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15243299 PMID:15927975 PMID:18091567 PMID:20562228 RGD:1580949 RGD:4144877 RGD:4892289 NCBI chr22:31,415,324...31,438,772
Ensembl chr22:31,417,308...31,437,587 		JBrowse link
G EGFR epidermal growth factor receptor ISO protein:increased expression:lung, arteriole (human) RGD PMID:12896876 PMID:21492463 RGD:5131626 RGD:5131639 NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631 		JBrowse link
G EGR1 early growth response 1 ISO protein:increased expression:lung (human)
mRNA, protein:increased expression:lung (rat)
mRNA, protein:increased expression:lung (mouse)		 RGD PMID:18599502 PMID:20023177 PMID:20889906 PMID:21924231 RGD:10395308 RGD:5131875 RGD:5131883 RGD:5131890 NCBI chr11:26,046,195...26,049,806
Ensembl chr11:26,046,228...26,048,575 		JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24292273 NCBI chr30:7,144,727...7,248,014
Ensembl chr30:7,144,570...7,248,000 		JBrowse link
G EIF5A eukaryotic translation initiation factor 5A ISO protein:increased expression:pulmonary artery,right ventricle RGD PMID:38261723 RGD:597621636 NCBI chr 5:32,268,103...32,272,970 JBrowse link
G ENG endoglin ISO RGD PMID:20042709 RGD:11041178 NCBI chr 9:55,558,246...55,590,081
Ensembl chr 9:55,558,305...55,589,064 		JBrowse link
G EPAS1 endothelial PAS domain protein 1 ISO DNA:missense mutation:cds: 2097G>A,p.G537R(human) RGD PMID:16215633 PMID:18650473 RGD:10395375 RGD:11041573 NCBI chr10:48,550,836...48,636,776
Ensembl chr10:48,551,410...48,634,844 		JBrowse link
G EPHX2 epoxide hydrolase 2 ISO RGD PMID:19226702 RGD:5688731 NCBI chr25:30,045,040...30,107,110
Ensembl chr25:30,045,291...30,107,110 		JBrowse link
G EPO erythropoietin treatment ISO RGD PMID:22559233 RGD:10400914 NCBI chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144 		JBrowse link
G ESR1 estrogen receptor 1 ISO RGD PMID:20081107 RGD:4892253 NCBI chr 1:42,081,952...42,368,544
Ensembl chr 1:42,081,969...42,368,544 		JBrowse link
G ESR2 estrogen receptor 2 ISO RGD PMID:21700911 RGD:5508791 NCBI chr 8:38,645,917...38,715,347
Ensembl chr 8:38,645,430...38,702,691 		JBrowse link
G F5 coagulation factor V ISO Chronic thromboembolic pulmonary hypertension (CTEPH) RGD PMID:20182352 RGD:4892669 NCBI chr 7:28,999,481...29,069,603
Ensembl chr 7:28,999,512...29,069,296 		JBrowse link
G FBLN5 fibulin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12189163 NCBI chr 8:1,162,203...1,231,809
Ensembl chr 8:1,162,923...1,231,719 		JBrowse link
G FGF2 fibroblast growth factor 2 ISO mRNA:increased expression:lung RGD PMID:19197140 RGD:2315911 NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO RGD PMID:19197140 RGD:2315911 NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261 		JBrowse link
G FOXO1 forkhead box O1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr25:603,433...706,961
Ensembl chr25:603,543...702,825 		JBrowse link
G GATA4 GATA binding protein 4 ISO protein:increased expression:heart right ventricle RGD PMID:21059997 RGD:7207053 NCBI chr25:26,126,172...26,211,474
Ensembl chr25:26,127,853...26,182,989 		JBrowse link
G GATA6 GATA binding protein 6 ISO protein:decreased expression:lung, arteriole, venule (human)
mRNA, protein:decreased expression:lung		 RGD PMID:19842842 PMID:23583651 RGD:13208869 RGD:2314194 NCBI chr 7:65,932,114...65,962,574 JBrowse link
G GBA1 glucosylceramidase beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12359135 NCBI chr 7:42,317,704...42,322,285
Ensembl chr 7:42,317,862...42,322,864 		JBrowse link
G GDF2 growth differentiation factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26801773 NCBI chr 4:34,996,767...35,001,094
Ensembl chr 4:34,997,579...35,001,203 		JBrowse link
G GJA1 gap junction protein alpha 1 treatment ISO mRNA:increased expression:pulmonary artery RGD PMID:21414209 PMID:23321332 RGD:7207411 RGD:8662411 NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936 		JBrowse link
G GPR182 G protein-coupled receptor 182 ISO mRNA:increased expression:lung RGD PMID:12622928 RGD:1625768 NCBI chr10:1,142,961...1,144,357
Ensembl chr10:1,142,937...1,144,091 		JBrowse link
G HAS1 hyaluronan synthase 1 ISO RGD PMID:19915162 RGD:9588633 NCBI chr 1:105,376,091...105,386,043
Ensembl chr 1:105,376,536...105,385,134 		JBrowse link
G HAS2 hyaluronan synthase 2 ISO mRNA:increased expression:lung RGD PMID:19915162 RGD:9588633 NCBI chr13:20,310,946...20,342,647
Ensembl chr13:20,309,872...20,341,636 		JBrowse link
G HAS3 hyaluronan synthase 3 ISO mRNA:decreased expression:lung RGD PMID:19915162 RGD:9588633 NCBI chr 5:80,520,261...80,530,769
Ensembl chr 5:80,520,261...80,529,434 		JBrowse link
G HDAC1 histone deacetylase 1 ISO protein:increased expression:lung: RGD PMID:22711276 RGD:9590133 NCBI chr 2:68,901,339...68,936,473
Ensembl chr 2:68,901,651...68,936,186 		JBrowse link
G HDAC2 histone deacetylase 2 ISO protein:decreased expression:lung: RGD PMID:22711276 RGD:9590133 NCBI chr12:70,053,822...70,083,491
Ensembl chr12:70,053,297...70,103,578 		JBrowse link
G HDAC3 histone deacetylase 3 ISO protein:decreased expression:lung: RGD PMID:22711276 RGD:9590133 NCBI chr 2:36,583,283...36,598,121
Ensembl chr 2:36,583,283...36,597,682 		JBrowse link
G HDAC4 histone deacetylase 4 ISO protein:increased expression:lung: RGD PMID:22711276 RGD:9590133 NCBI chr25:49,318,621...49,545,314
Ensembl chr25:49,317,349...49,453,478 		JBrowse link
G HDAC5 histone deacetylase 5 ISO protein:increased expression:lung: RGD PMID:22711276 RGD:9590133 NCBI chr 9:19,261,075...19,297,669
Ensembl chr 9:19,260,893...19,297,623 		JBrowse link
G HEY1 hes related family bHLH transcription factor with YRPW motif 1 ISO mRNA:decreased expression:lung: RGD PMID:34739767 RGD:155646132 NCBI chr29:27,185,191...27,188,121
Ensembl chr29:27,185,191...27,188,121 		JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism
associated with Anoxia;protein:increased expression:pulmonary artery		 RGD
CTD		 PMID:16215633 PMID:17213961 PMID:20110409 RGD:10395375 RGD:1601553 NCBI chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692 		JBrowse link
G HIF3A hypoxia inducible factor 3 subunit alpha ISO RGD PMID:16215633 RGD:10395375 NCBI chr 1:109,479,456...109,504,271
Ensembl chr 1:109,479,128...109,504,274 		JBrowse link
G HK1 hexokinase 1 ISO mRNA:increased expression:lung RGD PMID:25767292 RGD:11353880 NCBI chr 4:20,396,761...20,516,889
Ensembl chr 4:20,421,526...20,518,211 		JBrowse link
G HMGB1 high mobility group box 1 treatment ISO RGD PMID:25032709 RGD:10402082 NCBI chr25:9,431,223...9,558,167
Ensembl chr25:9,431,218...9,558,165 		JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:12750068 RGD:5508701 NCBI chr 3:30,970,037...30,988,987
Ensembl chr 3:30,970,037...30,990,294 		JBrowse link
G HMOX1 heme oxygenase 1 ISO RGD PMID:14970910 PMID:19409105 PMID:20957739 RGD:1582715 RGD:4145307 RGD:4145325 NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773 		JBrowse link
G HPGD 15-hydroxyprostaglandin dehydrogenase ISO mRNA, protein:increased expression:lung RGD PMID:24657469 RGD:11667099 NCBI chr25:24,964,908...24,993,276
Ensembl chr25:24,964,908...24,993,297 		JBrowse link
G HTR1B 5-hydroxytryptamine receptor 1B ameliorates ISO RGD PMID:28473438 RGD:329955562 NCBI chr12:38,659,088...38,659,546 JBrowse link
G HTR2B 5-hydroxytryptamine receptor 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:14659797 NCBI chr25:43,042,306...43,056,361
Ensembl chr25:43,042,173...43,056,612 		JBrowse link
G HYAL1 hyaluronidase 1 ISO mRNA:decreased expression:lung RGD PMID:19915162 RGD:9588633 NCBI chr20:39,035,924...39,040,443
Ensembl chr20:39,038,514...39,040,368 		JBrowse link
G HYAL2 hyaluronidase 2 ISO mRNA:decreased expression:lung RGD PMID:19915162 RGD:9588633 NCBI chr20:39,029,426...39,034,451
Ensembl chr20:39,031,735...39,034,130 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO associated with Heart Defects, Congenital;protein:increased secretion:serum (human) RGD PMID:21034646 RGD:4145436 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914 		JBrowse link
G ID1 inhibitor of DNA binding 1 ISO RGD PMID:20522807 RGD:9686087 NCBI chr24:21,094,339...21,096,276
Ensembl chr24:21,094,755...21,096,276 		JBrowse link
G IFNGR1 interferon gamma receptor 1 ISO mRNA: increased expression RGD PMID:20808962 RGD:4892610 NCBI chr 1:29,646,776...29,669,669
Ensembl chr 1:29,647,552...29,669,578 		JBrowse link
G IL10 interleukin 10 disease_progression ISO protein:increased expression:serum RGD PMID:20713898 RGD:4142530 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057 		JBrowse link
G IL13 interleukin 13 ISO associated with sclerosis; protein:increased expression:plasma (human)
associated with Scleroderma, Limited;protein:increased expression:plasma		 RGD PMID:19799786 PMID:21425123 RGD:4145600 RGD:8549528 NCBI chr11:20,957,870...20,961,391
Ensembl chr11:20,958,464...20,961,388 		JBrowse link
G IL13RA1 interleukin 13 receptor subunit alpha 1 ISO RGD PMID:20671265 PMID:20808962 RGD:4892610 RGD:4892611 NCBI chr  X:90,925,497...90,981,855
Ensembl chr  X:90,924,801...90,979,963 		JBrowse link
G IL13RA2 interleukin 13 receptor subunit alpha 2 ISO mRNA:increased expression:lung RGD PMID:20522789 RGD:4892612 NCBI chr  X:87,747,373...87,776,797
Ensembl chr  X:87,747,373...87,776,798 		JBrowse link
G IL18 interleukin 18 ISO RGD PMID:17400729 RGD:4889590 NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348 		JBrowse link
G IL1B interleukin 1 beta ISO associated with Scleroderma, Limited;protein:increased expression:serum RGD PMID:20713898 PMID:20808962 RGD:4142530 RGD:4892610 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458 		JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO RGD PMID:7946395 RGD:4143197 NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329 		JBrowse link
G IL23R interleukin 23 receptor ISO associated with Scleroderma, Systemic;DNA:SNPs: :rs11209026, rs11465804 (human) RGD PMID:19918037 RGD:5096624 NCBI chr 5:43,307,422...43,369,806
Ensembl chr 5:43,308,982...43,368,474 		JBrowse link
G IL4 interleukin 4 ISO RGD PMID:20889544 RGD:5128515 NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534 		JBrowse link
G IL6 interleukin 6 ameliorates
disease_progression		 ISO RGD PMID:20693255 PMID:20713898 PMID:38602915 RGD:407450417 RGD:4142530 RGD:4143246 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519 		JBrowse link
G KCNA5 potassium voltage-gated channel subfamily A member 5 ISO DNA:SNPs:promoter, cds
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:17267549 PMID:17596340 PMID:20303989 PMID:27522126 RGD:1627651 RGD:1627654 RGD:7242752 NCBI chr27:39,808,987...39,810,789
Ensembl chr27:39,756,363...39,811,035 		JBrowse link
G KCNK3 potassium two pore domain channel subfamily K member 3 severity ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:30365877 PMID:31347976 RGD:151347452 NCBI chr17:20,732,779...20,771,104
Ensembl chr17:20,732,819...20,768,730 		JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28090300 NCBI chr 4:26,844,250...27,338,271
Ensembl chr 4:26,844,250...27,555,776 		JBrowse link
G KDM5B lysine demethylase 5B ISO associated with Hypoxia;protein:increased expression:pulmonary artery,smooth muscle tissue (mouse) RGD PMID:30172777 RGD:329955443 NCBI chr 7:336,452...415,568
Ensembl chr 7:330,705...412,386 		JBrowse link
G LCN2 lipocalin 2 ISO mRNA,protein:increased expression:lung
associated with congenital heart disease; protein:increased expression:plasma		 RGD PMID:25076856 RGD:126781744 NCBI chr 9:55,328,118...55,342,535
Ensembl chr 9:55,328,133...55,332,038 		JBrowse link
G LEPR leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30689673 NCBI chr 5:44,684,118...44,775,626
Ensembl chr 5:44,688,109...44,775,636 		JBrowse link
G LOX lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614111 NCBI chr11:12,023,645...12,040,015
Ensembl chr11:12,027,250...12,039,819 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 treatment ISO RGD PMID:25907942 RGD:13800893 NCBI chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998 		JBrowse link
G MAPK3 mitogen-activated protein kinase 3 treatment ISO RGD PMID:25907942 RGD:13800893 NCBI chr 6:18,109,184...18,115,728
Ensembl chr 6:18,109,222...18,114,425 		JBrowse link
G MB myoglobin disease_progression ISO RGD PMID:23142560 RGD:460967415 NCBI chr10:28,573,819...28,583,526
Ensembl chr10:28,552,749...28,583,522 		JBrowse link
G MFN1 mitofusin 1 ISO protein:decreased expression:heart right ventricle (rat) RGD PMID:27422986 RGD:12910832 NCBI chr34:12,785,799...12,816,881
Ensembl chr34:12,785,856...12,815,994 		JBrowse link
G MIF macrophage migration inhibitory factor ISO associated with sclerodema, systemic; protein:increased expression:serum RGD PMID:18618071 RGD:4891006
G MIR125A microRNA mir-125a treatment ISO RGD PMID:29700287 RGD:26884455 NCBI chr 1:105,400,273...105,400,332
Ensembl chr 1:105,400,270...105,400,337 		JBrowse link
G MIR145 microRNA mir-145 ISO mRNA:decreased expression:pulmonary artery (rat) RGD PMID:35369850 RGD:155230820 NCBI chr 4:59,533,128...59,533,210
Ensembl chr 4:59,533,128...59,533,210 		JBrowse link
G MIR204 microRNA mir-204 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26224795 NCBI chr 1:86,818,494...86,818,553
Ensembl chr 1:86,818,489...86,818,556 		JBrowse link
G MIR21 microRNA mir-21 ISO RNA:increased expression:lung RGD PMID:32402408 RGD:41410883 NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624 		JBrowse link
G MIR223 microRNA mir-223 treatment ISO RNA:decreased expression:lung, pulmonary aorta, pulmonary aorta smooth muscle
Chronic Intermittent Hypoxia		 RGD PMID:26084306 PMID:30246291 PMID:30507047 RGD:25823198 RGD:25824847 RGD:25824849 NCBI chr  X:50,838,131...50,838,233
Ensembl chr  X:50,838,131...50,838,233 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO RGD PMID:23087098 RGD:7207217 NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648 		JBrowse link
G MMP9 matrix metallopeptidase 9 severity ISO associated with Heart Failure, Congestive;protein:decreased expression:monocyte
associated with Pulmonary Embolism;protein:increased expression:lung, plasma		 RGD PMID:16867026 PMID:17133179 PMID:18355767 PMID:21063214 PMID:23087098 RGD:1642028 RGD:1642053 RGD:5129210 RGD:5130155 RGD:7207217 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293 		JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO RGD PMID:23470622 RGD:10041039 NCBI chr 2:84,818,893...84,939,283
Ensembl chr 2:84,787,708...84,939,114 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor treatment ISO RGD PMID:22306243 RGD:7240564 NCBI chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309 		JBrowse link
G NAMPT nicotinamide phosphoribosyltransferase susceptibility ISO mRNA,protein:increased expression:lung,pulmonary arterial endothelial cell:
protein:increased expression:lung:		 RGD PMID:28202489 RGD:13781882 NCBI chr18:14,110,045...14,211,268
Ensembl chr18:13,993,022...14,208,657 		JBrowse link
G NFATC2 nuclear factor of activated T cells 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:17596340 PMID:27522126 RGD:1627651 NCBI chr24:37,606,977...37,734,813
Ensembl chr24:37,609,561...37,771,132 		JBrowse link
G NOS2 nitric oxide synthase 2 onset ISO associated with Scleroderma, Systemic; DNA:repeats, SNPs:promoter:(CCTTT), c.-1026C>T, c.-277A>G (human)
associated with Anoxia; protein:increased expression:pulmonary artery
associated with Congenital diaphragmatic hernia; protein:decreased expression:pulmonary artery, endothelium
associated with heart disease; protein:increased expression:endothelial cell
associated with Anoxia; mouse gene in rat model		 RGD PMID:11104748 PMID:16113050 PMID:16456243 PMID:16813666 PMID:19912632 RGD:1580936 RGD:1580940 RGD:4891462 RGD:4891468 RGD:5132602 NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588 		JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility
treatment		 ISO RNA:increased expression:lung
associated with Beta-Thalassemia;DNA:repeats:intron:
associated with chronic obstructive pulmonary disease; DNA:polymorphism:cds:p.G894T (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:cds:p.E298D (human)
protein:increased expression:arteriole
associated with heart disease; protein:increased expression:endothelial cell
mRNA, protein:increased expression:pulmonary endothelial cell		 RGD
CTD		 PMID:11686901 PMID:17065228 PMID:18953956 PMID:19487814 PMID:19912632 More... RGD:11533642 RGD:13504742 RGD:4892004 RGD:4892009 RGD:4892010 RGD:4892038 RGD:4892039 RGD:4892042 RGD:4892043 RGD:5132602 RGD:5132631 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277 		JBrowse link
G NOTCH1 notch receptor 1 ameliorates ISO RGD PMID:34739767 RGD:155646132 NCBI chr 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277 		JBrowse link
G NOX1 NADPH oxidase 1 treatment
ameliorates		 ISO mRNA,protein:increased expression:lung RGD PMID:23706097 PMID:24233492 PMID:27401289 RGD:329955359 RGD:329955361 RGD:329955579 NCBI chr  X:74,784,627...74,811,796
Ensembl chr  X:74,785,168...74,811,698 		JBrowse link
G NOX4 NADPH oxidase 4 ISO associated with Anoxia;mRNA, protein:increased expression:lung RGD PMID:18952568 RGD:4762683 NCBI chr21:10,615,153...10,782,927
Ensembl chr21:10,615,970...10,775,277 		JBrowse link
G NPPA natriuretic peptide A ISO RGD PMID:2136863 RGD:7247720 NCBI chr 2:84,406,317...84,408,115
Ensembl chr 2:84,396,073...84,408,385 		JBrowse link
G NPPB natriuretic peptide B severity ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma		 CTD
RGD		 PMID:16893710 PMID:16936438 PMID:20408845 PMID:21351102 RGD:1642203 RGD:1642205 NCBI chr 2:84,395,844...84,397,473 JBrowse link
G PDE3A phosphodiesterase 3A ISO mRNA:increased expression:pulmonary artery RGD PMID:12466227 RGD:1582528 NCBI chr27:26,555,558...26,878,624
Ensembl chr27:26,560,547...26,878,913 		JBrowse link
G PDE5A phosphodiesterase 5A ISO RGD PMID:19881228 RGD:2314460 NCBI chr32:38,272,573...38,407,517
Ensembl chr32:38,244,338...38,407,522 		JBrowse link
G PDGFA platelet derived growth factor subunit A ISO RGD PMID:8447423 RGD:1580847 NCBI chr 6:16,271,082...16,293,246
Ensembl chr 6:16,270,104...16,292,396 		JBrowse link
G PDGFB platelet derived growth factor subunit B ISO RGD PMID:8447423 PMID:21819559 PMID:22523431 RGD:1580847 RGD:6482831 RGD:6482859 NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746 		JBrowse link
G PDIA3 protein disulfide isomerase family A member 3 ISO protein:increased expression:lung: RGD PMID:23315792 RGD:9999167 NCBI chr30:10,487,926...10,513,437
Ensembl chr30:10,487,921...10,513,397 		JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 treatment ISO RGD PMID:22559233 RGD:10400914 NCBI chr 9:12,166,124...12,219,553
Ensembl chr 9:12,166,775...12,219,778 		JBrowse link
G PGF placental growth factor ISO associated with Heart Defects, Congenital
associated with Anemia, Sickle Cell;protein:increased expression:plasma		 RGD PMID:20040765 PMID:20195855 RGD:6483588 RGD:6483610 NCBI chr 8:48,059,554...48,110,534
Ensembl chr 8:48,059,552...48,075,170 		JBrowse link
G PRKG1 protein kinase cGMP-dependent 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21351102 NCBI chr26:35,732,974...36,932,744
Ensembl chr26:35,737,242...36,932,729 		JBrowse link
G PTGIS prostaglandin I2 synthase susceptibility
treatment		 ISO rat gene in a mouse model
protein:decreased expression:pulmonary artery (human)
human gene in a rat model		 RGD PMID:10359560 PMID:12019369 PMID:15684702 PMID:32673988 RGD:1580695 RGD:401959405 RGD:401960100 RGD:727270 NCBI chr24:36,129,091...36,162,525
Ensembl chr24:36,132,173...36,162,509 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO anoxia associated; RGD PMID:18542928 PMID:19577709 RGD:2300276 RGD:5135495 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903 		JBrowse link
G PTK2 protein tyrosine kinase 2 ISO RGD PMID:16244766 RGD:1581290 NCBI chr13:35,302,439...35,541,336
Ensembl chr13:35,303,380...35,541,294 		JBrowse link
G RAMP2 receptor activity modifying protein 2 ISO mRNA:increased expression:heart right ventricle RGD PMID:17437045 RGD:1642678 NCBI chr 9:20,250,711...20,252,485 JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO protein:altered localization:nucleus, blood vessel endothelial cell, lung
associated with Hypoxia;protein:increased expression:pulmonary artery,smooth muscle tissue (mouse)		 RGD PMID:17934115 PMID:30172777 RGD:2298843 RGD:329955443 NCBI chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875 		JBrowse link
G RHOA ras homolog family member A ISO protein:altered localization:membrane, artery, lung
protein:altered localization:pulmonary artery		 RGD PMID:16322374 PMID:18091588 RGD:1642819 RGD:2298877 NCBI chr20:39,824,552...39,888,089
Ensembl chr20:39,824,575...39,887,215 		JBrowse link
G RYR1 ryanodine receptor 1 ISO protein:altered localization: : RGD PMID:24692174 RGD:329813077 NCBI chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493 		JBrowse link
G RYR2 ryanodine receptor 2 ISO protein:increased expression:pulmonary artery RGD PMID:22962011 RGD:329813078 NCBI chr 4:2,371,868...2,908,132
Ensembl chr 4:2,373,114...2,907,875 		JBrowse link
G RYR3 ryanodine receptor 3 ISO protein:altered localization: : RGD PMID:24692174 RGD:329813077 NCBI chr30:1,179,575...1,533,352
Ensembl chr30:1,180,359...1,533,619 		JBrowse link
G SERPINA1 serpin family A member 1 ISO protein:decreased expression:serum RGD PMID:1836309 PMID:17444595 RGD:1643144 RGD:1643154 NCBI chr 8:63,388,498...63,400,377
Ensembl chr 8:63,376,945...63,398,435 		JBrowse link
G SERPINE1 serpin family E member 1 treatment ISO mRNA, protein:decreased expression:lung
DNA:polymorphism:3'utr		 RGD PMID:18337154 PMID:20300292 PMID:27115515 RGD:11073610 RGD:4143527 RGD:4143529 NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301 		JBrowse link
G SLC1A5 solute carrier family 1 member 5 ISO protein:increased expression:myocytes plasma membrane, right ventricle RGD PMID:23794090 RGD:151361111 NCBI chr 1:109,150,205...109,161,375
Ensembl chr 1:109,150,205...109,161,141 		JBrowse link
G SLC2A4 solute carrier family 2 member 4 ISO RGD PMID:19043358 RGD:2313622 NCBI chr 5:32,238,095...32,244,022
Ensembl chr 5:32,238,095...32,244,021 		JBrowse link
G SLC31A1 solute carrier family 31 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614111 NCBI chr11:67,590,087...67,628,947
Ensembl chr11:67,591,080...67,625,798 		JBrowse link
G SLC6A4 solute carrier family 6 member 4 severity
onset
no_association		 ISO associated with Anoxia
CTD Direct Evidence: marker/mechanism
associated with Pulmonary Disease, Chronic Obstructive;DNA:polymorphism (human)
associated with Heart Septal Defects, Ventricular;DNA:polymorphisms (human)
DNA:repeat:promoter (human)
DNA:polymorphism, repeat:promoter, intron (human)		 RGD
CTD		 PMID:11259539 PMID:16339917 PMID:16399993 PMID:18074800 PMID:18506000 More... RGD:4889430 RGD:4889432 RGD:4889434 RGD:4889435 RGD:4889437 RGD:4889440 RGD:4889442 RGD:4889445 NCBI chr 9:44,224,026...44,259,655
Ensembl chr 9:44,224,229...44,259,736 		JBrowse link
G SLC8A1 solute carrier family 8 member A1 ISO protein:increased expression:pulmonary artery, smooth muscle cell RGD PMID:17192285 RGD:1642711 NCBI chr17:32,004,207...32,381,399
Ensembl chr17:32,005,245...32,307,700 		JBrowse link
G SMAD1 SMAD family member 1 ISO protein:decreased expression, increased phosphorylation:lung
protein:decreased phosphorylation:lung, vascular associated smooth muscle cell		 RGD PMID:17347486 PMID:18367643 RGD:12903274 RGD:1643222 NCBI chr15:44,093,491...44,171,177
Ensembl chr15:44,095,497...44,170,098 		JBrowse link
G SMAD4 SMAD family member 4 ISO RGD PMID:17347486 PMID:18367643 RGD:12903274 RGD:1643222 NCBI chr 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405 		JBrowse link
G SMAD6 SMAD family member 6 ISO mRNA:decreased expression:lung RGD PMID:17347486 RGD:1643222 NCBI chr30:30,938,908...31,014,259
Ensembl chr30:30,937,849...31,014,583 		JBrowse link
G SMAD7 SMAD family member 7 ISO RGD PMID:17347486 RGD:1643222 NCBI chr 7:79,706,485...79,734,673
Ensembl chr 7:79,706,705...79,734,749 		JBrowse link
G SMAD9 SMAD family member 9 ISO RGD PMID:17347486 RGD:1643222 NCBI chr25:3,768,851...3,844,645
Ensembl chr25:3,779,197...3,841,321 		JBrowse link
G SMPD3 sphingomyelin phosphodiesterase 3 treatment ISO RGD PMID:19088082 RGD:10042965 NCBI chr 5:81,089,657...81,172,173
Ensembl chr 5:81,142,888...81,172,189 		JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20110409 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706 		JBrowse link
G SOX17 SRY-box transcription factor 17 ISO protein:decreased expression:lung (rat) RGD PMID:36913491 RGD:329853317 NCBI chr29:5,979,092...5,981,504
Ensembl chr29:5,979,261...5,981,124 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 severity ISO protein:increased phosphorylation:lung RGD PMID:38602915 RGD:407450417 NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672 		JBrowse link
G TAC1 tachykinin precursor 1 ISO RGD PMID:12662901 RGD:5147638 NCBI chr14:22,631,106...22,640,283
Ensembl chr14:22,632,642...22,640,258 		JBrowse link
G TACR1 tachykinin receptor 1 ISO RGD PMID:12662901 RGD:5147638 NCBI chr17:48,038,010...48,178,971
Ensembl chr17:48,038,010...48,178,971 		JBrowse link
G TACR2 tachykinin receptor 2 ISO RGD PMID:12662901 RGD:5147638 NCBI chr 4:20,518,797...20,531,118
Ensembl chr 4:20,517,563...20,531,867 		JBrowse link
G TEK TEK receptor tyrosine kinase ISO mRNA, protein:increased expression:lung RGD PMID:16917117 RGD:1601487 NCBI chr11:45,278,375...45,377,300
Ensembl chr11:45,278,891...45,409,093 		JBrowse link
G TERT telomerase reverse transcriptase treatment ISO RGD PMID:24376652 RGD:11038675 NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951 		JBrowse link
G TGFA transforming growth factor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18424623 NCBI chr10:68,915,671...68,957,027 JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 ISO RGD PMID:18202349 RGD:2302019 NCBI chr11:56,191,383...56,223,042
Ensembl chr11:56,161,772...56,218,594 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO mRNA:decreased expression:lung RGD PMID:17392319 RGD:1601116 NCBI chr23:13,886,869...13,946,480
Ensembl chr23:13,889,000...13,977,636 		JBrowse link
G THBD thrombomodulin ISO associated with Mixed Connective Tissue Disease RGD PMID:16784493 RGD:1601639 NCBI chr24:599,773...601,649
Ensembl chr24:599,773...601,649 		JBrowse link
G THPO thrombopoietin ISO protein:increased expression:pulmonary artery, plasma RGD PMID:12487786 RGD:1580087 NCBI chr34:17,245,006...17,255,250
Ensembl chr34:17,247,731...17,253,033 		JBrowse link
G TLR4 toll like receptor 4 ISO associated with anoxia RGD PMID:20205596 RGD:4144108 NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165 		JBrowse link
G TNC tenascin C severity ISO protein:increased expression:plasma RGD PMID:15879421 PMID:16782755 PMID:19288153 PMID:20528622 RGD:4889562 RGD:4889564 RGD:4889567 RGD:4889570 NCBI chr11:69,077,532...69,169,673
Ensembl chr11:69,077,535...69,170,281 		JBrowse link
G TNF tumor necrosis factor ISO associated with pulmonary disease, chronic obstructive; protein:increased expression:serum
associated with Pulmonary Edema; protein:increased expression:Bronchoalveolar Lavage Fluid
CTD Direct Evidence: therapeutic		 RGD
CTD		 PMID:2518282 PMID:9628235 PMID:12391106 PMID:16899829 RGD:4142833 RGD:4143280 RGD:4143422 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		JBrowse link
G TP53 tumor protein p53 treatment ISO RGD PMID:24334871 RGD:10043360 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		JBrowse link
G TP53BP1 tumor protein p53 binding protein 1 ISO protein:increased expression:lung RGD PMID:24270264 RGD:9586752 NCBI chr30:10,263,650...10,362,646
Ensembl chr30:10,263,650...10,336,134 		JBrowse link
G TPH1 tryptophan hydroxylase 1 severity ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:17675372 PMID:18506000 RGD:5686352 NCBI chr21:40,545,379...40,571,620
Ensembl chr21:40,547,682...40,566,572 		JBrowse link
G TPH2 tryptophan hydroxylase 2 severity ISO DNA:SNP: :1473C>G (mouse) RGD PMID:17675372 RGD:5686352 NCBI chr10:13,442,611...13,526,537
Ensembl chr10:13,442,611...13,527,243 		JBrowse link
G TRPC3 transient receptor potential cation channel subfamily C member 3 ISO RGD PMID:15358862 RGD:1580490 NCBI chr19:18,207,565...18,272,551
Ensembl chr19:18,207,417...18,271,828 		JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 ISO RGD PMID:15358862 RGD:1580490 NCBI chr 5:29,897,378...30,007,885
Ensembl chr 5:29,897,210...30,007,723 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO protein:increased expression:pulmonary artery RGD PMID:22962011 RGD:329813078 NCBI chr26:17,293,334...17,330,156
Ensembl chr26:17,262,100...17,330,165 		JBrowse link
G TWIST1 twist family bHLH transcription factor 1 treatment ISO RGD PMID:25593290 RGD:38500244
G UTS2 urotensin 2 ISO RGD PMID:15042392 RGD:2306848 NCBI chr 5:61,503,268...61,508,146 JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO protein:increased expression:blood vessel endothelium RGD PMID:17934115 RGD:2298843 NCBI chr 6:49,341,669...49,359,841
Ensembl chr 6:49,342,151...49,359,933 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO associated with Hypoxia;protein:increased expression:pulmonary artery,smooth muscle tissue (mouse) RGD PMID:30172777 RGD:329955443 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965 		JBrowse link
G VEGFB vascular endothelial growth factor B ISO RGD PMID:12547729 RGD:1625708 NCBI chr18:52,821,348...52,824,649
Ensembl chr18:52,821,365...52,824,655 		JBrowse link
G VIM vimentin ISO protein:increased expression, increased phosphorylation:lung RGD PMID:25593290 RGD:38500244 NCBI chr 2:19,671,316...19,679,367
Ensembl chr 2:19,671,316...19,679,466 		JBrowse link
G VIP vasoactive intestinal peptide ISO RGD PMID:22140628 RGD:5685374 NCBI chr 1:42,941,655...42,950,160
Ensembl chr 1:42,941,224...42,950,700 		JBrowse link
G VWF von Willebrand factor ISO RGD PMID:14507115 RGD:1580645 NCBI chr27:38,834,812...38,972,614
Ensembl chr27:38,833,837...39,320,142 		JBrowse link
G ZDHHC5 zDHHC palmitoyltransferase 5 treatment ISO RGD PMID:25593290 RGD:38500244 NCBI chr18:38,497,649...38,522,728
Ensembl chr18:38,497,657...38,517,964 		JBrowse link
Dursun Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6PC3 glucose-6-phosphatase catalytic subunit 3 ISO ClinVar Annotator: match by term: Dursun syndrome ClinVar PMID:22050868 PMID:25492228 PMID:25741868 PMID:27577878 PMID:28492532 More... NCBI chr 9:19,299,619...19,304,038
Ensembl chr 9:19,260,240...19,303,995 		JBrowse link
HUPRA Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SARS1 seryl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:42,584,792...42,605,201
Ensembl chr 6:42,584,798...42,605,136 		JBrowse link
G SARS2 seryl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: HUPRA SYNDROME | ClinVar Annotator: match by term: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME | ClinVar Annotator: match by term: Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis | ClinVar Annotator: match by term: SARS2-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21255763 PMID:24034276 PMID:25741868 More... NCBI chr 1:114,192,574...114,202,385 JBrowse link
Neonatal Pulmonary Hypertension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPS1 carbamoyl-phosphate synthase 1 susceptibility ISO ClinVar Annotator: match by term: Pulmonary hypertension, neonatal, susceptibility to ClinVar
OMIM		 PMID:8486760 PMID:9536098 PMID:9686343 PMID:9711878 PMID:11388595 More... NCBI chr37:18,308,164...18,428,487
Ensembl chr37:18,143,986...18,427,697 		JBrowse link
persistent fetal circulation syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAD2 adenosine deaminase domain containing 2 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr 5:68,163,216...68,170,044
Ensembl chr 5:68,163,170...68,170,019 		JBrowse link
G ATP2C2 ATPase secretory pathway Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr 5:67,986,120...68,046,391
Ensembl chr 5:67,986,355...68,046,272 		JBrowse link
G C5H16orf74 chromosome 5 C16orf74 homolog ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr 5:66,945,022...66,969,301
Ensembl chr 5:66,947,136...66,979,907 		JBrowse link
G C5H16orf95 chromosome 5 C16orf95 homolog ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr 5:65,738,445...65,757,635 JBrowse link
G CIBAR2 CBY1 interacting BAR domain containing 2 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr 5:67,465,646...67,477,709
Ensembl chr 5:67,465,800...67,476,672 		JBrowse link
G COTL1 coactosin like F-actin binding protein 1 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr 5:67,872,065...67,909,536
Ensembl chr 5:67,872,314...67,908,637 		JBrowse link
G COX4I1 cytochrome c oxidase subunit 4I1 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr 5:66,883,730...66,891,734
Ensembl chr 5:66,883,732...66,891,500 		JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO CACD, OMIM:265380, DNA:polymorphism:T1405N
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:11407344 RGD:1600716 NCBI chr37:18,308,164...18,428,487
Ensembl chr37:18,143,986...18,427,697 		JBrowse link
G CRISPLD2 cysteine rich secretory protein LCCL domain containing 2 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr 5:67,643,225...67,707,438
Ensembl chr 5:67,645,179...67,692,122 		JBrowse link
G DNAAF1 dynein axonemal assembly factor 1 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr 5:68,184,532...68,205,651
Ensembl chr 5:68,184,532...68,205,656 		JBrowse link
G EMC8 ER membrane protein complex subunit 8 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr 5:66,891,619...66,910,628
Ensembl chr 5:66,890,224...66,911,451 		JBrowse link
G FBXO31 F-box protein 31 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr 5:65,703,591...65,734,956
Ensembl chr 5:65,703,575...65,731,056 		JBrowse link
G FOXC2 forkhead box C2 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr 5:66,234,336...66,296,007
Ensembl chr 5:66,294,176...66,295,693 		JBrowse link
G FOXF1 forkhead box F1 ISO ClinVar Annotator: match by term: ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS AND OTHER CONGENITAL ANOMALIES | ClinVar Annotator: match by term: Alveolar capillary dysplasia with misalignment of pulmonary veins | ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia OMIM
ClinVar		 PMID:15520767 PMID:19500772 PMID:23505205 PMID:24033266 PMID:25741868 More... NCBI chr 5:66,343,776...66,347,785
Ensembl chr 5:66,345,150...66,347,935 		JBrowse link
G FOXL1 forkhead box L1 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr 5:66,281,543...66,287,357
Ensembl chr 5:66,283,528...66,284,598 		JBrowse link
G GINS2 GINS complex subunit 2 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr 5:66,982,033...66,997,115
Ensembl chr 5:66,982,137...67,000,338 		JBrowse link
G GSE1 Gse1 coiled-coil protein ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr 5:66,997,948...67,391,587
Ensembl chr 5:67,001,022...67,180,979 		JBrowse link
G HSDL1 hydroxysteroid dehydrogenase like 1 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr 5:68,206,392...68,226,459
Ensembl chr 5:68,213,188...68,225,448 		JBrowse link
G IRF8 interferon regulatory factor 8 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr 5:66,789,264...66,812,477
Ensembl chr 5:66,791,350...66,842,179 		JBrowse link
G ITGAM integrin subunit alpha M ISO DNA:missense mutation:CDS:p.E1071D (human) RGD PMID:32054482 RGD:329853760 NCBI chr 6:16,944,062...16,996,525
Ensembl chr 6:16,808,971...16,996,286 		JBrowse link
G JPH3 junctophilin 3 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr 5:65,445,329...65,530,288
Ensembl chr 5:65,451,050...65,530,294 		JBrowse link
G KCNG4 potassium voltage-gated channel modifier subfamily G member 4 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr 5:68,135,729...68,156,755
Ensembl chr 5:68,136,945...68,150,522 		JBrowse link
G KIAA0513 KIAA0513 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr 5:67,481,098...67,544,078
Ensembl chr 5:67,474,507...67,544,681 		JBrowse link
G KLHL36 kelch like family member 36 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr 5:67,828,301...67,854,113
Ensembl chr 5:67,832,694...67,846,013 		JBrowse link
G MAP1LC3B microtubule associated protein 1 light chain 3 beta ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr 5:65,669,553...65,683,445 JBrowse link
G MBTPS1 membrane bound transcription factor peptidase, site 1 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr 5:68,228,176...68,281,175
Ensembl chr 5:68,228,238...68,280,515 		JBrowse link
G MEAK7 MTOR associated protein, eak-7 homolog ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr 5:67,958,596...67,976,945
Ensembl chr 5:67,962,242...67,975,264 		JBrowse link
G MLYCD malonyl-CoA decarboxylase ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr 5:68,385,058...68,399,965
Ensembl chr 5:68,384,618...68,399,965 		JBrowse link
G MTHFSD methenyltetrahydrofolate synthetase domain containing ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr 5:66,307,852...66,334,196
Ensembl chr 5:66,307,955...66,331,769 		JBrowse link
G NECAB2 N-terminal EF-hand calcium binding protein 2 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr 5:68,313,699...68,342,253
Ensembl chr 5:68,314,000...68,378,311 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO OMIM:265380 MouseDO NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277 		JBrowse link
G OSGIN1 oxidative stress induced growth inhibitor 1 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr 5:68,344,406...68,377,842 JBrowse link
G PTEN phosphatase and tensin homolog ISO OMIM:265380 MouseDO NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176 		JBrowse link
G SLC38A8 solute carrier family 38 member 8 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr 5:68,289,864...68,308,381
Ensembl chr 5:68,289,485...68,308,340 		JBrowse link
G STRA6 signaling receptor and transporter of retinol STRA6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17273977 NCBI chr30:37,331,834...37,359,449
Ensembl chr30:37,331,832...37,353,529 		JBrowse link
G TAF1C TATA-box binding protein associated factor, RNA polymerase I subunit C ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr 5:68,175,196...68,184,267
Ensembl chr 5:68,175,014...68,184,277 		JBrowse link
G USP10 ubiquitin specific peptidase 10 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr 5:67,736,215...67,774,756
Ensembl chr 5:67,736,730...67,809,206 		JBrowse link
G WFDC1 WAP four-disulfide core domain 1 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr 5:68,067,894...68,095,749
Ensembl chr 5:68,067,885...68,096,067 		JBrowse link
G ZCCHC14 zinc finger CCHC-type containing 14 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr 5:65,611,032...65,667,162
Ensembl chr 5:65,611,026...65,664,923 		JBrowse link
G ZDHHC7 zinc finger DHHC-type palmitoyltransferase 7 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr 5:67,554,310...67,580,042
Ensembl chr 5:67,566,563...67,578,556 		JBrowse link
primary pulmonary hypertension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABI2 abl interactor 2 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr37:12,162,815...12,278,505
Ensembl chr37:12,162,392...12,282,395 		JBrowse link
G ACADL acyl-CoA dehydrogenase long chain ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr37:18,028,244...18,073,975
Ensembl chr37:18,017,087...18,073,862 		JBrowse link
G ACVRL1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: Heritable pulmonary arterial hypertension ClinVar PMID:25741868 PMID:28492532 PMID:31727138 NCBI chr27:3,075,373...3,090,549
Ensembl chr27:3,076,124...3,092,469 		JBrowse link
G ADAM23 ADAM metallopeptidase domain 23 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr37:14,997,150...15,164,341
Ensembl chr37:14,996,854...15,161,008 		JBrowse link
G ADORA2A adenosine A2a receptor ISO OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 MouseDO NCBI chr26:28,141,076...28,150,600
Ensembl chr26:28,141,076...28,150,598 		JBrowse link
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074 NCBI chr37:10,755,595...10,825,073
Ensembl chr37:10,756,515...10,812,292 		JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B ISO ClinVar Annotator: match by term: Idiopathic pulmonary arterial hypertension ClinVar PMID:22374147 PMID:25741868 PMID:25758993 PMID:28492532 NCBI chr32:17,761,555...17,978,056
Ensembl chr32:17,870,904...18,016,444 		JBrowse link
G BMPR2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Idiopathic and/or familial pulmonary arterial hypertension | ClinVar Annotator: match by term: Primary pulmonary hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, dexfenfluramine-associated | ClinVar Annotator: match by term: Pulmonary hypertension, primary, fenfluramine-associated ClinVar PMID:3291115 PMID:9536098 PMID:10903931 PMID:10973254 PMID:11015450 More... NCBI chr37:11,342,292...11,540,199
Ensembl chr37:11,342,384...11,533,024 		JBrowse link
G C37H2orf80 chromosome 37 C2orf80 homolog ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr37:16,457,255...16,482,276
Ensembl chr37:16,424,884...16,482,227 		JBrowse link
G CARF calcium responsive transcription factor ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr37:11,786,976...11,884,644
Ensembl chr37:11,787,078...11,848,893 		JBrowse link
G CAV1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:55,458,934...55,494,563
Ensembl chr14:55,461,048...55,492,935 		JBrowse link
G CCNYL1 cyclin Y like 1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr37:16,075,459...16,113,583
Ensembl chr37:16,075,372...16,110,926 		JBrowse link
G CD28 CD28 molecule ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr37:12,503,849...12,536,362
Ensembl chr37:12,503,811...12,532,854 		JBrowse link
G CDK15 cyclin dependent kinase 15 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074 NCBI chr37:10,848,789...10,929,818
Ensembl chr37:10,849,003...10,926,856 		JBrowse link
G CMKLR2 chemerin chemokine-like receptor 2 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr37:14,725,573...14,776,009
Ensembl chr37:14,726,766...14,727,833 		JBrowse link
G CPO carboxypeptidase O ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr37:15,376,243...15,438,914
Ensembl chr37:15,413,934...15,438,920 		JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr37:18,308,164...18,428,487
Ensembl chr37:18,143,986...18,427,697 		JBrowse link
G CREB1 cAMP responsive element binding protein 1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr37:15,921,214...15,978,492
Ensembl chr37:15,939,138...15,977,556 		JBrowse link
G CRYGA crystallin gamma A ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr37:16,453,644...16,457,116
Ensembl chr37:16,453,713...16,455,542 		JBrowse link
G CRYGB crystallin gamma B ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr37:16,440,804...16,442,823
Ensembl chr37:16,440,805...16,442,912 		JBrowse link
G CRYGC crystallin gamma C ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 Ensembl chr37:16,424,884...16,482,227 JBrowse link
G CRYGD crystallin, gamma D ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr37:16,424,884...16,433,479 JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874 		JBrowse link
G CYP20A1 cytochrome P450 family 20 subfamily A member 1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr37:12,085,566...12,141,061
Ensembl chr37:12,086,749...12,140,228 		JBrowse link
G DYTN dystrotelin ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr37:15,195,443...15,241,807
Ensembl chr37:15,195,536...15,244,937 		JBrowse link
G EEF1B2 eukaryotic translation elongation factor 1 beta 2 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr37:14,713,927...14,716,894
Ensembl chr37:14,714,017...14,716,850 		JBrowse link
G FAM117B family with sequence similarity 117 member B ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr37:11,583,542...11,668,488
Ensembl chr37:11,583,684...11,661,903 		JBrowse link
G FASTKD2 FAST kinase domains 2 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr37:15,287,446...15,303,005
Ensembl chr37:15,287,672...15,302,999 		JBrowse link
G FBXO32 F-box protein 32 ISO mRNA:increased expression:vastus lateralis RGD PMID:23972212 RGD:329812002 NCBI chr13:21,804,442...21,838,157
Ensembl chr13:21,809,292...21,838,169 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO protein:increased expression:lung (human) RGD PMID:29722558 RGD:155791445 NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621 		JBrowse link
G FOXF1 forkhead box F1 ISO ClinVar Annotator: match by term: Idiopathic and/or familial pulmonary arterial hypertension ClinVar PMID:19500772 PMID:19592680 PMID:19812545 PMID:20425831 PMID:22766610 More... NCBI chr 5:66,343,776...66,347,785
Ensembl chr 5:66,345,150...66,347,935 		JBrowse link
G FZD5 frizzled class receptor 5 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr37:16,123,788...16,126,634
Ensembl chr37:16,123,798...16,125,567 		JBrowse link
G FZD7 frizzled class receptor 7 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074 NCBI chr37:11,054,572...11,061,173
Ensembl chr37:11,053,521...11,060,821 		JBrowse link
G HDAC1 histone deacetylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22711276 NCBI chr 2:68,901,339...68,936,473
Ensembl chr 2:68,901,651...68,936,186 		JBrowse link
G HDAC4 histone deacetylase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22711276 NCBI chr25:49,318,621...49,545,314
Ensembl chr25:49,317,349...49,453,478 		JBrowse link
G HDAC5 histone deacetylase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22711276 NCBI chr 9:19,261,075...19,297,669
Ensembl chr 9:19,260,893...19,297,623 		JBrowse link
G ICA1L islet cell autoantigen 1 like ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr37:11,674,970...11,754,931
Ensembl chr37:11,678,125...11,741,997 		JBrowse link
G ICOS inducible T cell costimulator ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr37:12,663,839...12,735,266
Ensembl chr37:12,670,999...12,733,458 		JBrowse link
G ID1 inhibitor of DNA binding 1 ISO protein:decreased expression:lung, wall of arteriole (human) RGD PMID:20522807 RGD:9686087 NCBI chr24:21,094,339...21,096,276
Ensembl chr24:21,094,755...21,096,276 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr37:16,512,027...16,531,269
Ensembl chr37:16,512,770...16,531,219 		JBrowse link
G INO80D INO80 complex subunit D ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr37:14,581,531...14,647,930
Ensembl chr37:14,591,055...14,647,936 		JBrowse link
G KANSL1L KAT8 regulatory NSL complex subunit 1 like ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr37:17,883,992...18,013,389
Ensembl chr37:17,885,457...18,013,634 		JBrowse link
G KCNK3 potassium two pore domain channel subfamily K member 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:20,732,779...20,771,104
Ensembl chr17:20,732,819...20,768,730 		JBrowse link
G KLF7 KLF transcription factor 7 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr37:15,515,563...15,607,345
Ensembl chr37:15,521,622...15,605,824 		JBrowse link
G LANCL1 LanC like glutathione S-transferase 1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr37:18,209,162...18,246,100
Ensembl chr37:18,212,137...18,246,354 		JBrowse link
G MAP2 microtubule associated protein 2 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr37:17,316,899...17,611,360
Ensembl chr37:17,466,678...17,607,803 		JBrowse link
G MDH1B malate dehydrogenase 1B ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr37:15,255,894...15,287,374
Ensembl chr37:15,256,507...15,287,341 		JBrowse link
G METTL21A methyltransferase 21A, HSPA lysine ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr37:15,935,256...16,002,089
Ensembl chr37:15,990,763...16,002,256 		JBrowse link
G MFN1 mitofusin 1 ISO protein:decreased expression:vastus lateralis RGD PMID:23972212 RGD:329812002 NCBI chr34:12,785,799...12,816,881
Ensembl chr34:12,785,856...12,815,994 		JBrowse link
G MFN2 mitofusin 2 ISO protein:decreased expression:vastus lateralis RGD PMID:23972212 RGD:329812002 NCBI chr 2:84,284,719...84,310,715
Ensembl chr 2:84,284,719...84,308,225 		JBrowse link
G MIR23A microRNA mir-23a ISO RNA:increased expression:serum RGD PMID:25815108 RGD:155882560 NCBI chr20:48,620,335...48,620,386
Ensembl chr20:48,620,323...48,620,397 		JBrowse link
G MYL1 myosin light chain 1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr37:18,143,644...18,168,208
Ensembl chr37:18,143,673...18,168,187 		JBrowse link
G NBEAL1 neurobeachin like 1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr37:11,895,127...12,072,613
Ensembl chr37:11,895,219...12,065,380 		JBrowse link
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr37:14,680,908...14,713,838
Ensembl chr37:14,683,083...14,713,754 		JBrowse link
G NOP58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074 NCBI chr37:11,255,562...11,287,325
Ensembl chr37:11,255,589...11,287,279 		JBrowse link
G NRP2 neuropilin 2 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr37:14,293,545...14,408,984
Ensembl chr37:14,293,614...14,406,949 		JBrowse link
G PARD3B par-3 family cell polarity regulator beta ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr37:13,251,965...14,233,893
Ensembl chr37:13,251,881...14,230,765 		JBrowse link
G PIKFYVE phosphoinositide kinase, FYVE-type zinc finger containing ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr37:16,537,095...16,620,427
Ensembl chr37:16,541,562...16,619,554 		JBrowse link
G PLEKHM3 pleckstrin homology domain containing M3 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr37:16,177,125...16,354,641
Ensembl chr37:16,182,819...16,355,003 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 MouseDO NCBI chr20:6,134,618...6,265,481
Ensembl chr20:6,050,357...6,207,981 		JBrowse link
G PTGIS prostaglandin I2 synthase ISO DNA:SNP, missense mutations:intron 4, CDS:c.521+1G>A, p.R252Q (c.755G>A), p.A447T (c.1339G>A) (, rs759344518, rs146531327) (human) RGD PMID:32236489 RGD:401901150 NCBI chr24:36,129,091...36,162,525
Ensembl chr24:36,132,173...36,162,509 		JBrowse link
G PTH2R parathyroid hormone 2 receptor ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr37:16,656,573...16,758,313
Ensembl chr37:16,678,002...16,734,220 		JBrowse link
G RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr37:12,279,100...12,346,546 JBrowse link
G RFC1 replication factor C subunit 1 ISO mRNA:increased expression:lung (human) RGD PMID:37410515 RGD:401940160 NCBI chr 3:73,062,292...73,136,576
Ensembl chr 3:73,062,329...73,135,096 		JBrowse link
G RPE ribulose-5-phosphate-3-epimerase ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr37:17,866,729...17,882,702 JBrowse link
G RYR1 ryanodine receptor 1 ISO protein:increased phosphorylation:vastus lateralis RGD PMID:23972212 RGD:329812002 NCBI chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493 		JBrowse link
G SMAD9 SMAD family member 9 ISO OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
CTD Direct Evidence: marker/mechanism		 MouseDO
CTD		 NCBI chr25:3,768,851...3,844,645
Ensembl chr25:3,779,197...3,841,321 		JBrowse link
G SOX17 SRY-box transcription factor 17 ISO protein:decreased expression:pulmonary artery (human) RGD PMID:36919784 RGD:329853737 NCBI chr29:5,979,092...5,981,504
Ensembl chr29:5,979,261...5,981,124 		JBrowse link
G SUMO1 small ubiquitin like modifier 1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074 NCBI chr37:11,199,937...11,229,743
Ensembl chr37:11,200,590...11,229,754 		JBrowse link
G TNFSF4 TNF superfamily member 4 ISO OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 MouseDO NCBI chr 7:25,883,297...25,909,608
Ensembl chr 7:25,883,251...25,906,892 		JBrowse link
G TRIM63 tripartite motif containing 63 ISO mRNA, protein:increased expression:vastus lateralis RGD PMID:23972212 RGD:329812002 NCBI chr 2:73,841,868...73,918,371
Ensembl chr 2:73,888,689...73,909,414 		JBrowse link
G UNC80 unc-80 homolog, NALCN channel complex subunit ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr37:17,648,432...17,864,915
Ensembl chr37:17,649,104...17,861,277 		JBrowse link
G VIP vasoactive intestinal peptide ISO OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 MouseDO NCBI chr 1:42,941,655...42,950,160
Ensembl chr 1:42,941,224...42,950,700 		JBrowse link
G WDR12 WD repeat domain 12 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr37:11,762,598...11,787,025
Ensembl chr37:11,762,777...11,786,933 		JBrowse link
G ZDBF2 zinc finger DBF-type containing 2 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr37:14,867,344...14,897,552
Ensembl chr37:14,871,575...14,894,047 		JBrowse link
primary pulmonary hypertension 1 term browser
Symbol Object Name Qualifiers 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 hypertension, primary, 1 ClinVar PMID:9245985 PMID:12700602 PMID:14684682 PMID:15024723 PMID:15879500 More... NCBI chr27:3,075,373...3,090,549
Ensembl chr27:3,076,124...3,092,469 		JBrowse link
G BMPR2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: BMPR2-related disorder | 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:9886286 PMID:10903931 PMID:10973254 More... NCBI chr37:11,342,292...11,540,199
Ensembl chr37:11,342,384...11,533,024 		JBrowse link
G ENG endoglin ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:16690726 PMID:16754821 PMID:18498373 PMID:23298310 PMID:24033266 More... NCBI chr 9:55,558,246...55,590,081
Ensembl chr 9:55,558,305...55,589,064 		JBrowse link
G KCNA5 potassium voltage-gated channel subfamily A member 5 ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:20018952 PMID:21685056 PMID:23861362 PMID:24068186 PMID:25076992 More... NCBI chr27:39,808,987...39,810,789
Ensembl chr27:39,756,363...39,811,035 		JBrowse link
G KCNK3 potassium two pore domain channel subfamily K member 3 ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:23883380 NCBI chr17:20,732,779...20,771,104
Ensembl chr17:20,732,819...20,768,730 		JBrowse link
G LOC119867997 small nucleolar RNA SNORD70 ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:23579436
G LOC119867998 small nucleolar RNA SNORD70 ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:23579436
G LOC119868001 small nucleolar RNA SNORD11 ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:23579436
G LOC119868002 small nucleolar RNA SNORD11B ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:23579436
G NOP58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:23579436 NCBI chr37:11,255,562...11,287,325
Ensembl chr37:11,255,589...11,287,279 		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 chr15:41,590,253...41,670,156
Ensembl chr15:41,592,876...41,670,837 		JBrowse link
G SMAD1 SMAD family member 1 ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:21898662 NCBI chr15:44,093,491...44,171,177
Ensembl chr15:44,095,497...44,170,098 		JBrowse link
G SMAD4 SMAD family member 4 ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:21898662 PMID:24728327 PMID:25502805 PMID:25741868 PMID:28492532 More... NCBI chr 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405 		JBrowse link
G SMAD9 SMAD family member 9 ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:25741868 NCBI chr25:3,768,851...3,844,645
Ensembl chr25:3,779,197...3,841,321 		JBrowse link
G TBX4 T-box transcription factor 4 ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:9536098 PMID:15106123 PMID:16199547 PMID:17576681 PMID:23592887 More... NCBI chr 9:35,163,346...35,197,726
Ensembl chr 9:35,166,353...35,191,932 		JBrowse link
primary pulmonary hypertension 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMAD9 SMAD family member 9 ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 2 | ClinVar Annotator: match by term: SMAD9-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19211612 PMID:19419974 More... NCBI chr25:3,768,851...3,844,645
Ensembl chr25:3,779,197...3,841,321 		JBrowse link
primary pulmonary hypertension 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR1B bone morphogenetic protein receptor type 1B ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 3 ClinVar PMID:25741868 PMID:28492532 NCBI chr32:17,761,555...17,978,056
Ensembl chr32:17,870,904...18,016,444 		JBrowse link
G CAV1 caveolin 1 ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 3 OMIM
ClinVar		 PMID:22474227 PMID:25741868 PMID:28492532 PMID:29231014 PMID:30029678 More... NCBI chr14:55,458,934...55,494,563
Ensembl chr14:55,461,048...55,492,935 		JBrowse link
primary pulmonary hypertension 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNK3 potassium two pore domain channel subfamily K member 3 ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 4 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23883380 PMID:24033266 PMID:25741868 More... NCBI chr17:20,732,779...20,771,104
Ensembl chr17:20,732,819...20,768,730 		JBrowse link
primary pulmonary hypertension 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP13A3 ATPase 13A3 ISO ClinVar Annotator: match by term: ATP13A3-related condition | ClinVar Annotator: match by term: Pulmonary hypertension, primary, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30679663 PMID:31727138 PMID:34493544 More... NCBI chr33:31,196,666...31,294,880
Ensembl chr33:31,197,343...31,293,826 		JBrowse link
primary pulmonary hypertension 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAPNS1 calpain small subunit 1 ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 6 ClinVar
OMIM		 PMID:21972389 PMID:38230350 NCBI chr 1:116,549,608...116,558,928
Ensembl chr 1:116,550,000...116,558,807 		JBrowse link
Pulmonary Arterial Hypertension term browser
Symbol Object Name Qualifiers 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 6:38,679,312...38,712,868
Ensembl chr 6:38,679,324...38,712,648 		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 chr21:39,963,001...40,037,040
Ensembl chr21:39,962,947...40,036,981 		JBrowse link
G ABI2 abl interactor 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr37:12,162,815...12,278,505
Ensembl chr37:12,162,392...12,282,395 		JBrowse link
G ACVRL1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:10767348 PMID:11484689 PMID:12114496 PMID:14684682 PMID:15024723 More... NCBI chr27:3,075,373...3,090,549
Ensembl chr27:3,076,124...3,092,469 		JBrowse link
G AHR aryl hydrocarbon receptor severity ISO CTD Direct Evidence: marker/mechanism
protein:increased activity:serum (human)		 CTD
RGD		 PMID:33836606 RGD:401940192 NCBI chr14:31,743,704...31,793,484
Ensembl chr14:31,686,170...31,791,444 		JBrowse link
G AHSP alpha hemoglobin stabilizing protein ISO mRNA:altered expression: (human) RGD PMID:35710932 RGD:329961295 NCBI chr 6:16,744,879...16,745,826
Ensembl chr 6:16,744,879...16,745,745 		JBrowse link
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr37:10,755,595...10,825,073
Ensembl chr37:10,756,515...10,812,292 		JBrowse link
G AOX2 aldehyde oxidase 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr37:9,912,731...9,992,322
Ensembl chr37:9,913,675...9,992,319 		JBrowse link
G APLN apelin treatment ISO RGD PMID:23867624 RGD:329848996 NCBI chr  X:100,863,360...100,873,105 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 chr33:31,196,666...31,294,880
Ensembl chr33:31,197,343...31,293,826 		JBrowse link
G AXIN2 axin 2 exacerbates ISO RGD PMID:28694128 RGD:151356920 NCBI chr 9:14,559,476...14,588,950
Ensembl chr 9:14,559,388...14,588,530 		JBrowse link
G BMP7 bone morphogenetic protein 7 ISO protein:increased expression:lung, pulmonary artery (rat) RGD PMID:31542483 RGD:155888480 NCBI chr24:42,203,183...42,294,105
Ensembl chr24:42,204,823...42,294,653 		JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease ClinVar PMID:24121792 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30029678 More... NCBI chr 4:34,499,898...34,582,481
Ensembl chr 4:34,517,492...34,578,923 		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 chr32:17,761,555...17,978,056
Ensembl chr32:17,870,904...18,016,444 		JBrowse link
G BMPR2 bone morphogenetic protein receptor type 2 treatment ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease RGD
ClinVar		 PMID:3291115 PMID:9536098 PMID:9886286 PMID:10903931 PMID:10973254 More... RGD:329848996 NCBI chr37:11,342,292...11,540,199
Ensembl chr37:11,342,384...11,533,024 		JBrowse link
G BZW1 basic leucine zipper and W2 domains 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr37:10,005,137...10,021,442
Ensembl chr37:10,005,183...10,017,448 		JBrowse link
G C2CD6 C2 calcium dependent domain containing 6 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr37:10,555,073...10,682,224
Ensembl chr37:10,557,929...10,682,200 		JBrowse link
G CARF calcium responsive transcription factor ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr37:11,786,976...11,884,644
Ensembl chr37:11,787,078...11,848,893 		JBrowse link
G CASP10 caspase 10 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr37:10,315,867...10,350,585 JBrowse link
G CASP8 caspase 8 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr37:10,362,071...10,402,108
Ensembl chr37:10,391,048...10,401,822 		JBrowse link
G CAV1 caveolin 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease ClinVar PMID:25741868 PMID:28492532 PMID:30029678 NCBI chr14:55,458,934...55,494,563
Ensembl chr14:55,461,048...55,492,935 		JBrowse link
G CD28 CD28 molecule ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr37:12,503,849...12,536,362
Ensembl chr37:12,503,811...12,532,854 		JBrowse link
G CDH2 cadherin 2 ISO mRNA:increased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chr 7:60,736,760...60,950,477
Ensembl chr 7:60,736,760...60,951,034 		JBrowse link
G CDK15 cyclin dependent kinase 15 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr37:10,848,789...10,929,818
Ensembl chr37:10,849,003...10,926,856 		JBrowse link
G CFLAR CASP8 and FADD like apoptosis regulator ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr37:10,268,407...10,307,803
Ensembl chr37:10,268,582...10,345,095 		JBrowse link
G CLK1 CDC like kinase 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr37:10,054,230...10,065,416
Ensembl chr37:10,054,237...10,082,759 		JBrowse link
G CP ceruloplasmin ISO associated with systemic scleroderma;protein:increased expression:serum RGD PMID:32630589 RGD:401827129 NCBI chr23:43,969,297...44,033,226
Ensembl chr23:43,969,435...44,030,369 		JBrowse link
G CREB1 cAMP responsive element binding protein 1 treatment ISO RGD PMID:33760143 RGD:401960860 NCBI chr37:15,921,214...15,978,492
Ensembl chr37:15,939,138...15,977,556 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874 		JBrowse link
G CTNND1 catenin delta 1 ISO protein:decreased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chr18:38,415,687...38,469,777
Ensembl chr18:38,417,701...38,462,216 		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 chr37:12,085,566...12,141,061
Ensembl chr37:12,086,749...12,140,228 		JBrowse link
G DDAH1 dimethylarginine dimethylaminohydrolase 1 exacerbates ISO compared to wild type RGD PMID:31402164 RGD:151347602 NCBI chr 6:62,548,852...62,683,687
Ensembl chr 6:62,549,152...62,683,729 		JBrowse link
G DHPS deoxyhypusine synthase ISO protein:increased expression:pulmonary arterial smooth muscle: RGD PMID:38261723 RGD:597621636 NCBI chr20:49,435,956...49,439,493
Ensembl chr20:49,435,844...49,439,479 		JBrowse link
G DOHH deoxyhypusine hydroxylase ISO protein:increased expression:pulmonary arterial smooth muscle, pulmonary artery, right ventricle: RGD PMID:38261723 RGD:597621636 NCBI chr20:55,896,919...55,906,326
Ensembl chr20:55,897,382...55,906,357 		JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:12215525 PMID:24135949 PMID:24292273 PMID:24310610 PMID:25741868 More... NCBI chr30:7,144,727...7,248,014
Ensembl chr30:7,144,570...7,248,000 		JBrowse link
G EIF5A eukaryotic translation initiation factor 5A ISO protein:increased expression:pulmonary arterial smooth muscle, pulmonary artery, right ventricle RGD PMID:38261723 RGD:597621636 NCBI chr 5:32,268,103...32,272,970 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:15517393 PMID:15521985 PMID:15879500 PMID:16705692 More... NCBI chr 9:55,558,246...55,590,081
Ensembl chr 9:55,558,305...55,589,064 		JBrowse link
G FAM117B family with sequence similarity 117 member B ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr37:11,583,542...11,668,488
Ensembl chr37:11,583,684...11,661,903 		JBrowse link
G FHIT fragile histidine triad diadenosine triphosphatase ISO RGD PMID:30107138 RGD:329349307 NCBI chr20:29,735,380...31,113,859
Ensembl chr20:30,356,572...31,113,859 		JBrowse link
G FLACC1 flagellum associated containing coiled-coil domains 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr37:10,404,512...10,438,102
Ensembl chr37:10,404,744...10,430,950 		JBrowse link
G FTO FTO alpha-ketoglutarate dependent dioxygenase ISO protein:decreased expression:lung RGD PMID:34310344 RGD:329845886 NCBI chr 2:61,699,864...62,080,199
Ensembl chr 2:61,652,236...62,080,059 		JBrowse link
G FZD7 frizzled class receptor 7 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr37:11,054,572...11,061,173
Ensembl chr37:11,053,521...11,060,821 		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 4:34,996,767...35,001,094
Ensembl chr 4:34,997,579...35,001,203 		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 chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289 		JBrowse link
G GPX3 glutathione peroxidase 3 ISO associated with systemic scleroderma;protein:decreased expression:serum RGD PMID:32630589 RGD:401827129 NCBI chr 4:58,200,671...58,209,010
Ensembl chr 4:58,200,672...58,209,010 		JBrowse link
G HTR1B 5-hydroxytryptamine receptor 1B ISO protein:increased expression:endothelium, smooth muscle, pulmonary artery RGD PMID:28473438 RGD:329955562 NCBI chr12:38,659,088...38,659,546 JBrowse link
G HYCC2 hyccin PI4KA lipid kinase complex subunit 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr37:10,162,728...10,240,061
Ensembl chr37:10,169,973...10,238,994 		JBrowse link
G HYDIN HYDIN axonemal central pair apparatus protein ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr 5:76,743,872...77,104,888
Ensembl chr 5:76,743,972...77,045,455 		JBrowse link
G ICA1L islet cell autoantigen 1 like ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr37:11,674,970...11,754,931
Ensembl chr37:11,678,125...11,741,997 		JBrowse link
G ICOS inducible T cell costimulator ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr37:12,663,839...12,735,266
Ensembl chr37:12,670,999...12,733,458 		JBrowse link
G IFNG interferon gamma treatment ISO RGD PMID:23867624 RGD:329848996 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698 		JBrowse link
G IGF1R insulin like growth factor 1 receptor treatment ISO RGD PMID:30240970 RGD:156430315 NCBI chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387 		JBrowse link
G IL2 interleukin 2 treatment ISO RGD PMID:23867624 RGD:329848996 NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394 		JBrowse link
G IMPA1 inositol monophosphatase 1 ISO RGD PMID:30604625 RGD:126781711 NCBI chr29:28,772,044...28,799,170
Ensembl chr29:28,771,853...28,799,077 		JBrowse link
G ITGA5 integrin subunit alpha 5 ISO mRNA:increased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chr27:904,892...924,757
Ensembl chr27:904,102...924,084 		JBrowse link
G KCNA5 potassium voltage-gated channel subfamily A member 5 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr27:39,808,987...39,810,789
Ensembl chr27:39,756,363...39,811,035 		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 chr17:20,732,779...20,771,104
Ensembl chr17:20,732,819...20,768,730 		JBrowse link
G KCNN4 potassium calcium-activated channel subfamily N member 4 ameliorates ISO RGD PMID:28679649 RGD:329955564 NCBI chr 1:111,391,464...111,407,612
Ensembl chr 1:111,391,159...111,407,701 		JBrowse link
G KCTD18 potassium channel tetramerization domain containing 18 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr37:9,574,407...9,593,978
Ensembl chr37:9,588,386...9,596,158 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 treatment ISO RGD PMID:35582418 RGD:155804297 NCBI chr12:49,669,849...49,740,039
Ensembl chr12:49,672,389...49,739,850 		JBrowse link
G MIR140 microRNA mir-140 severity ISO miRNA:decreased expression:blood (human) RGD PMID:27214554 RGD:329337371 NCBI chr 5:79,814,256...79,814,316
Ensembl chr 5:79,814,246...79,814,326 		JBrowse link
G MIR143 microRNA mir-143 ameliorates ISO RNA:increased expression:pulmonary smooth muscle cell: RGD PMID:26311719 RGD:11537224 NCBI chr 4:59,534,535...59,534,589
Ensembl chr 4:59,534,535...59,534,594 		JBrowse link
G MIR17 microRNA mir-17 severity ISO miRNA:increased expression:blood RGD PMID:32600075 RGD:329349306 NCBI chr22:42,478,013...42,478,071
Ensembl chr22:42,478,000...42,478,083 		JBrowse link
G MIR200A microRNA mir-200a treatment ISO RGD PMID:30240970 RGD:156430315 NCBI chr 5:56,369,063...56,369,152
Ensembl chr 5:56,369,061...56,369,151 		JBrowse link
G MIR221 microRNA mir-221 ameliorates ISO RNA:increased expression:lung,pulmonary artery smooth muscle cell RGD PMID:28694128 RGD:151356920 NCBI chr  X:39,523,890...39,523,951
Ensembl chr  X:39,523,885...39,523,954 		JBrowse link
G MPP4 MAGUK p55 scaffold protein 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr37:10,711,324...10,751,329
Ensembl chr37:10,711,597...10,748,889 		JBrowse link
G NBEAL1 neurobeachin like 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr37:11,895,127...12,072,613
Ensembl chr37:11,895,219...12,065,380 		JBrowse link
G NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr37:10,240,109...10,247,487
Ensembl chr37:10,240,213...10,247,486 		JBrowse link
G NIF3L1 NGG1 interacting factor 3 like 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr37:10,082,823...10,136,647
Ensembl chr37:10,083,104...10,107,050 		JBrowse link
G NNMT nicotinamide N-methyltransferase ISO protein:increased activity,altered activity:lung, liver (rat) RGD PMID:27581040 RGD:401793717 NCBI chr 5:19,026,514...19,044,154
Ensembl chr 5:19,026,556...19,044,016 		JBrowse link
G NOP58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr37:11,255,562...11,287,325
Ensembl chr37:11,255,589...11,287,279 		JBrowse link
G NOS3 nitric oxide synthase 3 treatment ISO RGD PMID:23867624 RGD:329848996 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277 		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 chr 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277 		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 chr20:46,946,654...46,978,821
Ensembl chr20:46,937,485...46,978,219 		JBrowse link
G ORC2 origin recognition complex subunit 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr37:10,109,825...10,155,588
Ensembl chr37:10,111,496...10,151,876 		JBrowse link
G PARK7 Parkinsonism associated deglycase exacerbates ISO RGD PMID:29069575 RGD:151347449 NCBI chr 5:61,576,219...61,592,325
Ensembl chr 5:61,576,069...61,592,303 		JBrowse link
G PDCD4 programmed cell death 4 treatment ISO RGD PMID:30240970 RGD:156430315 NCBI chr28:22,198,274...22,227,184
Ensembl chr28:22,198,322...22,226,717 		JBrowse link
G PHF6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr  X:105,044,232...105,093,663
Ensembl chr  X:105,043,556...105,091,795 		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 6:11,411,062...11,438,767
Ensembl chr 6:11,349,453...11,438,940 		JBrowse link
G PPIL3 peptidylprolyl isomerase like 3 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr37:10,067,208...10,082,827
Ensembl chr37:10,054,237...10,082,759 		JBrowse link
G PTGIS prostaglandin I2 synthase treatment
susceptibility		 ISO human gene in a rat model
DNA:repeat, SNPs:promoter, intron: , 185C>T, 325C>A ( , rs5582, rs116939356) (human)		 RGD PMID:11034952 PMID:17635855 PMID:18612919 PMID:23841984 PMID:24605778 RGD:401901195 RGD:401901264 RGD:401959335 RGD:401959406 RGD:401959742 NCBI chr24:36,129,091...36,162,525
Ensembl chr24:36,132,173...36,162,509 		JBrowse link
G PTPRD protein tyrosine phosphatase receptor type D ISO mRNA:decreased expression:blood, pulmonary artery (human) RGD PMID:35848503 RGD:401976433 NCBI chr11:29,100,913...31,278,495
Ensembl chr11:29,104,448...29,501,600 		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 chr37:12,279,100...12,346,546 JBrowse link
G SELENOP selenoprotein P ISO associated with systemic scleroderma;protein:decreased expression:serum RGD PMID:32630589 RGD:401827129 NCBI chr 4:66,953,060...66,964,162
Ensembl chr 4:66,956,405...66,959,043 		JBrowse link
G SGO2 shugoshin 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr37:9,611,843...9,653,169
Ensembl chr37:9,611,939...9,767,044 		JBrowse link
G SMAD4 SMAD family member 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25559809 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29684080 NCBI chr 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405 		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:28492532 PMID:30029678 NCBI chr25:3,768,851...3,844,645
Ensembl chr25:3,779,197...3,841,321 		JBrowse link
G SMS spermine synthase ISO protein:increased expression:pulmonary arterial smooth muscle cell RGD PMID:38261723 RGD:597621636 NCBI chr  X:17,749,020...17,803,351
Ensembl chr  X:17,749,530...17,802,999 		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 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706 		JBrowse link
G SOD3 superoxide dismutase 3 exacerbates ISO RGD PMID:21730301 RGD:14369425 NCBI chr 3:85,382,698...85,387,144
Ensembl chr 3:85,382,484...85,387,455 		JBrowse link
G SOX17 SRY-box transcription factor 17 susceptibility
onset		 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension
DNA:SNPs:enhancers: (rs10103692, rs13266183) (human)
DNA:frameshift mutations, missense mutations, SNP:CDS, intron:multiple (human)		 ClinVar
RGD		 PMID:29650961 PMID:30527955 RGD:329853735 RGD:329955464 NCBI chr29:5,979,092...5,981,504
Ensembl chr29:5,979,261...5,981,124 		JBrowse link
G SPATS2L spermatogenesis associated serine rich 2 like ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr37:9,403,557...9,564,466
Ensembl chr37:9,407,101...9,586,913 		JBrowse link
G STRADB STE20 related adaptor beta ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr37:10,521,643...10,557,611
Ensembl chr37:10,521,574...10,557,231 		JBrowse link
G SUMO1 small ubiquitin like modifier 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr37:11,199,937...11,229,743
Ensembl chr37:11,200,590...11,229,754 		JBrowse link
G TBX4 T-box transcription factor 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease ClinVar PMID:15106123 PMID:16199547 PMID:23592887 PMID:25741868 PMID:28492532 More... NCBI chr 9:35,163,346...35,197,726
Ensembl chr 9:35,166,353...35,191,932 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 ISO mRNA:increased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chr11:56,191,383...56,223,042
Ensembl chr11:56,161,772...56,218,594 		JBrowse link
G TMEM237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr37:10,691,010...10,709,632
Ensembl chr37:10,691,743...10,709,606 		JBrowse link
G TNFRSF12A TNF receptor superfamily member 12A ISO mRNA:increased expression:right ventricle RGD PMID:23325387 RGD:596933101 NCBI chr 6:38,166,160...38,168,189
Ensembl chr 6:38,166,160...38,168,189 		JBrowse link
G TOPBP1 DNA topoisomerase II binding protein 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr23:30,517,172...30,578,664
Ensembl chr23:30,516,125...30,578,108 		JBrowse link
G TRAK2 trafficking kinesin protein 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr37:10,457,985...10,521,432
Ensembl chr37:10,461,104...10,497,820 		JBrowse link
G TRPC4 transient receptor potential cation channel subfamily C member 4 ameliorates ISO RGD PMID:24113457 RGD:150429956 NCBI chr25:2,927,347...3,133,935
Ensembl chr25:2,981,518...3,132,829 		JBrowse link
G TWIST1 twist family bHLH transcription factor 1 ISO mRNA, protein:increased expression: pulmonary artery,lung: RGD PMID:25593290 RGD:38500244
G VIM vimentin ISO protein:increased phosphorylation:lung RGD PMID:25593290 RGD:38500244 NCBI chr 2:19,671,316...19,679,367
Ensembl chr 2:19,671,316...19,679,466 		JBrowse link
G WDR12 WD repeat domain 12 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr37:11,762,598...11,787,025
Ensembl chr37:11,762,777...11,786,933 		JBrowse link
Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related term browser
Symbol Object Name Qualifiers 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:10187774 PMID:10767348 PMID:11170071 More... NCBI chr27:3,075,373...3,090,549
Ensembl chr27:3,076,124...3,092,469 		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:15879500 More... NCBI chr 9:55,558,246...55,590,081
Ensembl chr 9:55,558,305...55,589,064 		JBrowse link
Pulmonary Edema of Mountaineers term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNM1L dynamin 1 like ISO mRNA:increased expression:lung (rat) RGD PMID:23517027 RGD:12738217 NCBI chr27:16,161,855...16,211,983
Ensembl chr27:16,163,357...16,211,957 		JBrowse link
G FIS1 fission, mitochondrial 1 ISO mRNA:increased expression:lung (rat) RGD PMID:23517027 RGD:12738217 NCBI chr 6:8,642,014...8,645,812
Ensembl chr 6:8,642,039...8,648,851 		JBrowse link
G GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25373139 NCBI chr15:53,172,914...53,236,200
Ensembl chr15:53,174,157...53,234,533 		JBrowse link
G HMOX1 heme oxygenase 1 ISO protein:increased expression:lung RGD PMID:21296072 RGD:10755745 NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773 		JBrowse link
G MFN2 mitofusin 2 ISO mRNA:decreased expression:lung (rat) RGD PMID:23517027 RGD:12738217 NCBI chr 2:84,284,719...84,310,715
Ensembl chr 2:84,284,719...84,308,225 		JBrowse link
Pulmonary Hypertension, Hypoxia-Induced term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHR aryl hydrocarbon receptor treatment ISO RGD PMID:33836606 RGD:401940192 NCBI chr14:31,743,704...31,793,484
Ensembl chr14:31,686,170...31,791,444 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO mRNA:increased expression:lung (rat) RGD PMID:33836606 RGD:401940192 NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866 		JBrowse link
G EGFR epidermal growth factor receptor treatment ISO RGD PMID:31264901 RGD:38599217 NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631 		JBrowse link
G EGLN1 egl-9 family hypoxia inducible factor 1 ISO RGD PMID:16761101 RGD:11252085 NCBI chr 4:8,053,486...8,110,791
Ensembl chr 4:8,053,837...8,109,325 		JBrowse link
G EGLN3 egl-9 family hypoxia inducible factor 3 ISO RGD PMID:16761101 RGD:11252085 NCBI chr 8:12,873,755...12,901,728
Ensembl chr 8:12,875,387...12,901,709 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase treatment ISO RGD PMID:25063801 RGD:10449119 NCBI chr  X:122,217,317...122,231,862
Ensembl chr  X:122,205,683...122,231,678 		JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO mRNA:decreased expression:lung (rat) RGD PMID:19823174 RGD:4145499 NCBI chr28:12,352,658...12,377,960
Ensembl chr28:12,352,659...12,414,579 		JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO mRNA:decreased expression:lung (rat) RGD PMID:19823174 RGD:4145499 NCBI chr 2:57,968,833...57,994,219
Ensembl chr 2:57,968,833...57,994,218 		JBrowse link
G HPGD 15-hydroxyprostaglandin dehydrogenase ISO mRNA, protein:increased expression:lung RGD PMID:24657469 RGD:11667099 NCBI chr25:24,964,908...24,993,276
Ensembl chr25:24,964,908...24,993,297 		JBrowse link
G IL6 interleukin 6 ameliorates ISO RGD PMID:38602915 RGD:407450417 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519 		JBrowse link
G MFN2 mitofusin 2 ISO mRNA, protein:decreased expression:lung (rat) RGD PMID:26485208 RGD:12910856 NCBI chr 2:84,284,719...84,310,715
Ensembl chr 2:84,284,719...84,308,225 		JBrowse link
G NOG noggin ISO mRNA,protein:decreased expression:lung: RGD PMID:25740156 RGD:12801489 NCBI chr 9:31,453,604...31,456,060 JBrowse link
G NOS3 nitric oxide synthase 3 ISO mRNA,protein:increased expression:pulmonary artery RGD PMID:9950873 RGD:11533933 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277 		JBrowse link
G PCNA proliferating cell nuclear antigen ISO protein:increased expression:lung (rat) RGD PMID:26485208 RGD:12910856 NCBI chr24:16,478,774...16,485,992
Ensembl chr24:16,478,769...16,484,992 		JBrowse link
G PTGIS prostaglandin I2 synthase treatment ISO RGD PMID:12062720 RGD:401959327 NCBI chr24:36,129,091...36,162,525
Ensembl chr24:36,132,173...36,162,509 		JBrowse link
G PTPRD protein tyrosine phosphatase receptor type D ISO mRNA, protein:decreased expression:pulmonary artery (rat) RGD PMID:35848503 RGD:401976433 NCBI chr11:29,100,913...31,278,495
Ensembl chr11:29,104,448...29,501,600 		JBrowse link
G SLC39A12 solute carrier family 39 member 12 severity ISO RGD PMID:26258299 RGD:10401832 NCBI chr 2:18,991,734...19,064,899
Ensembl chr 2:18,992,031...19,063,647 		JBrowse link
G SOX17 SRY-box transcription factor 17 exacerbates ISO protein:decreased expression:pulmonary artery endothelium (mouse) RGD PMID:36205124 PMID:36913491 PMID:36919784 PMID:37066790 RGD:329853316 RGD:329853317 RGD:329853734 RGD:329853737 NCBI chr29:5,979,092...5,981,504
Ensembl chr29:5,979,261...5,981,124 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO protein:increased phosphorylation:lung RGD PMID:38602915 RGD:407450417 NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672 		JBrowse link
pulmonary venoocclusive disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATF4 activating transcription factor 4 ISO protein:increased expression:lung RGD PMID:32209028 RGD:38549370 NCBI chr10:25,528,880...25,531,018
Ensembl chr10:25,528,874...25,530,993 		JBrowse link
G BMPR2 bone morphogenetic protein receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr37:11,342,292...11,540,199
Ensembl chr37:11,342,384...11,533,024 		JBrowse link
G DDIT3 DNA damage inducible transcript 3 ISO protein:increased expression:lung, endothelial cell RGD PMID:32209028 RGD:38549370 NCBI chr10:1,606,693...1,612,410
Ensembl chr10:1,606,693...1,611,303 		JBrowse link
G EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 ISO protein:increased expression:lung RGD PMID:32209028 RGD:38549370 NCBI chr17:29,494,641...29,537,933
Ensembl chr17:29,496,128...29,537,933 		JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO protein:increased expression:lung RGD PMID:32209028 RGD:38549370 NCBI chr17:37,886,397...37,950,671
Ensembl chr17:37,886,601...37,949,812 		JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 disease_progression ISO protein:decreased expression:lung
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:24292273 PMID:32209028 RGD:38549370 NCBI chr30:7,144,727...7,248,014
Ensembl chr30:7,144,570...7,248,000 		JBrowse link
G ERG ETS transcription factor ERG ISO protein:decreased expression:lung RGD PMID:32209028 RGD:38549370 NCBI chr31:33,456,902...33,562,704
Ensembl chr31:33,497,209...33,515,272 		JBrowse link
G HMOX1 heme oxygenase 1 ISO protein:increased expression:lung, endothelial cell RGD PMID:32209028 RGD:38549370 NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773 		JBrowse link
G KCNK3 potassium two pore domain channel subfamily K member 3 ISO RGD PMID:32209028 RGD:38549370 NCBI chr17:20,732,779...20,771,104
Ensembl chr17:20,732,819...20,768,730 		JBrowse link
pulmonary venoocclusive disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1 OMIM
ClinVar		 PMID:3291115 PMID:10903931 PMID:11115378 PMID:12045205 PMID:12446270 More... NCBI chr37:11,342,292...11,540,199
Ensembl chr37:11,342,384...11,533,024 		JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1 ClinVar PMID:24033266 NCBI chr30:7,144,727...7,248,014
Ensembl chr30:7,144,570...7,248,000 		JBrowse link
pulmonary venoocclusive disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis ClinVar PMID:18626305 PMID:24292273 NCBI chr37:11,342,292...11,540,199
Ensembl chr37:11,342,384...11,533,024 		JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: EIF2AK4-related condition | ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis OMIM
ClinVar		 PMID:12215525 PMID:24033266 PMID:24135949 PMID:24292273 PMID:24310610 More... NCBI chr30:7,144,727...7,248,014
Ensembl chr30:7,144,570...7,248,000 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15757
    disease of anatomical entity 15377
      respiratory system disease 4970
        lower respiratory tract disease 2263
          lung disease 2224
            pulmonary hypertension 398
              Dursun Syndrome 1
              Familial Cirrhosis with Pulmonary Hypertension 0
              HUPRA Syndrome 2
              Pulmonary Arterial Hypertension + 104
              Pulmonary Edema of Mountaineers 5
              Pulmonary Hypertension, Chronic Thromboembolic, without Deep Vein Thrombosis 0
              Pulmonary Hypertension, Hypoxia-Induced 19
              Rowley-Rosenberg Syndrome 0
              Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 0
              persistent fetal circulation syndrome 40
              primary pulmonary hypertension + 87
              pulmonary venoocclusive disease + 9
Path 2
Term Annotations click to browse term
  disease 15757
    disease of anatomical entity 15377
      cardiovascular system disease 4545
        vascular disease 3124
          artery disease 2020
            hypertension 930
              pulmonary hypertension 398
                Dursun Syndrome 1
                Familial Cirrhosis with Pulmonary Hypertension 0
                HUPRA Syndrome 2
                Pulmonary Arterial Hypertension + 104
                Pulmonary Edema of Mountaineers 5
                Pulmonary Hypertension, Chronic Thromboembolic, without Deep Vein Thrombosis 0
                Pulmonary Hypertension, Hypoxia-Induced 19
                Rowley-Rosenberg Syndrome 0
                Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 0
                persistent fetal circulation syndrome 40
                primary pulmonary hypertension + 87
                pulmonary venoocclusive disease + 9
paths to the root