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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:Increased VASCULAR RESISTANCE in the PULMONARY CIRCULATION, usually secondary to HEART DISEASES or LUNG DISEASES.
Synonyms:exact_synonym: PHT
 narrow_synonym: PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED;   PULMONARY HYPERTENSION, PRIMARY, FENFLURAMINE-ASSOCIATED
 primary_id: MESH:D006976
 alt_id: RDO:0001161;   RDO:0001800
 xref: ICD10CM:I27.20;   NCI:C3120
For additional species annotation, visit the Alliance of Genome Resources.


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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 I converting enzyme 2 ISO CTD Direct Evidence: therapeutic CTD PMID:31931441 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
ClinVar Annotator: match by term: Pulmonary hypertension
associated with hereditary haemorrhagic telangiectasia;DNA:missense mutations
DNA:mutations (human)
mRNA:increased expression:lung
CTD
ClinVar
RGD
PMID:11484689, PMID:14684682, PMID:15687131, PMID:16540754, PMID:17392319, PMID:17786384, PMID:18159113, PMID:20056902, PMID:20501893, PMID:21378382, PMID:22632830, PMID:23298310, PMID:23919827, PMID:25741868, PMID:26387786, PMID:26540443, PMID:28492532, PMID:30311386, PMID:32581362 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 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 ISO DNA:missense mutations (human)
protein:decreased expression:lung
CTD Direct Evidence: marker/mechanism
DNA:mutations: :multiple (human)
RGD
CTD
PMID:11590841, PMID:11893684, PMID:12358323, PMID:15775752, PMID:16297860, PMID:18663089, PMID:19324947, PMID:19785764, PMID:20002458, PMID:20496075, PMID:20522807, PMID:20534176, PMID:23383100, PMID:23502781, PMID:24224048, PMID:25593290 RGD:1580076, RGD:38500244, RGD:5129237, RGD:5129238, RGD:5129239, RGD:5129472, RGD:5129474 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 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 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, PMID:20889845, PMID:20890431, PMID:20929026, PMID:20967148 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 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 GBA glucosylceramidase beta 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 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 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, HLH protein 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
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 disease_progression ISO RGD PMID:20693255, PMID:20713898 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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30365877 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 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 LOC479668 haptoglobin-like treatment ISO protein:decreased expression:serum RGD PMID:2043024, PMID:19023114, PMID:19703762, PMID:25656991 RGD:11041794, RGD:1626353, RGD:5147420, RGD:5147440 NCBI chr 5:77,795,183...77,800,034 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 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 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 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 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, PMID:20215577, PMID:20724942, PMID:21111729, PMID:21144100, PMID:25699607, PMID:29151278 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 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 PMS2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Pulmonary hypertension ClinVar PMID:16144131, PMID:16283678, PMID:18602922, PMID:19283792, PMID:20205264, PMID:21239990, PMID:22658618, PMID:23012243, PMID:24033266, PMID:25525159, PMID:25637381, PMID:25741868, PMID:26467025, PMID:26895986, PMID:28492532, PMID:29489754 NCBI chr 6:11,411,062...11,438,767
Ensembl chr 6:11,349,453...11,438,940
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 ISO rat gene in a mouse model RGD PMID:10359560, PMID:15684702 RGD:1580695, 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 RGD PMID:17934115 RGD:2298843 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 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 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, PMID:19473340, PMID:19556740, PMID:19736308, PMID:19886858 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 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 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 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 zinc finger DHHC-type 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:19011569, PMID:20799326, PMID:25741868 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 SARS2 seryl-tRNA synthetase 2, mitochondrial ISO OMIM 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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11407344, PMID:14718356, PMID:15465784, PMID:16708072, PMID:20154341, PMID:21767969 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: Persistent fetal circulation syndrome 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: Persistent fetal circulation syndrome 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: Persistent fetal circulation syndrome ClinVar NCBI chr 5:66,945,022...66,969,301
Ensembl chr 5:66,947,136...66,979,907
JBrowse link
G CIBAR2 CBY1 interacting BAR domain containing 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome 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: Persistent fetal circulation syndrome 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: Persistent fetal circulation syndrome 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: Persistent fetal circulation syndrome 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: Persistent fetal circulation syndrome 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: Persistent fetal circulation syndrome ClinVar NCBI chr 5:66,891,619...66,910,628
Ensembl chr 5:66,890,224...66,911,451
JBrowse link
G FOXF1 forkhead box F1 ISO OMIM NCBI chr 5:66,343,776...66,347,785
Ensembl chr 5:66,345,150...66,347,935
JBrowse link
G GINS2 GINS complex subunit 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome 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: Persistent fetal circulation syndrome 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: Persistent fetal circulation syndrome 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: Persistent fetal circulation syndrome ClinVar NCBI chr 5:66,789,264...66,812,477
Ensembl chr 5:66,791,350...66,842,179
JBrowse link
G KCNG4 potassium voltage-gated channel modifier subfamily G member 4 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome 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: Persistent fetal circulation syndrome 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: Persistent fetal circulation syndrome ClinVar NCBI chr 5:67,828,301...67,854,113
Ensembl chr 5:67,832,694...67,846,013
JBrowse link
G MBTPS1 membrane bound transcription factor peptidase, site 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome 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: Persistent fetal circulation syndrome 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: Persistent fetal circulation syndrome ClinVar NCBI chr 5:68,385,058...68,399,965
Ensembl chr 5:68,384,618...68,399,965
JBrowse link
G NECAB2 N-terminal EF-hand calcium binding protein 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 5:68,313,699...68,342,253
Ensembl chr 5:68,314,000...68,378,311
JBrowse link
G OSGIN1 oxidative stress induced growth inhibitor 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 5:68,344,406...68,377,842 JBrowse link
G SLC38A8 solute carrier family 38 member 8 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome 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: Persistent fetal circulation syndrome 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: Persistent fetal circulation syndrome 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: Persistent fetal circulation syndrome ClinVar NCBI chr 5:68,067,894...68,095,749
Ensembl chr 5:68,067,885...68,096,067
JBrowse link
G ZDHHC7 zinc finger DHHC-type palmitoyltransferase 7 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome 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 ACVRL1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:9245985, PMID:12700602, PMID:14684682, PMID:15024723, PMID:15879500, PMID:15880681, PMID:16429404, PMID:16470787, PMID:16540754, PMID:16705692, PMID:18159113, PMID:19555857, PMID:20414677, PMID:20501893, PMID:21158752, PMID:22632830, PMID:23298310, PMID:23722869, PMID:24753439, PMID:25741868, PMID:26387786, PMID:27316748, PMID:28492532, PMID:29449337, PMID:32581362 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 CTD Direct Evidence: marker/mechanism
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, 1, with hereditary hemorrhagic telangiectasia
ClinVar Annotator: match by term: Idiopathic and/or familial pulmonary arterial hypertension
ClinVar Annotator: match by term: Pulmonary hypertension, primary, fenfluramine-associated
CTD
ClinVar
PMID:3291115, PMID:10903931, PMID:10973254, PMID:11015450, PMID:11115378, PMID:11502704, PMID:12045205, PMID:12139571, PMID:12358323, PMID:12446270, PMID:12821254, PMID:14516151, PMID:14583445, PMID:14985116, PMID:15055271, PMID:15059534, PMID:15146475, PMID:15170098, PMID:15358693, PMID:15591269, PMID:15687131, PMID:15775752, PMID:15965979, PMID:16429395, PMID:16429403, PMID:16717148, PMID:16728714, PMID:18159113, PMID:18221724, PMID:18356561, PMID:18364108, PMID:18386374, PMID:18503968, PMID:18792970, PMID:19206171, PMID:19223935, PMID:19324947, PMID:19555857, PMID:19844076, PMID:20002458, PMID:20095988, PMID:20096498, PMID:20496075, PMID:20534176, PMID:21070126, PMID:21228398, PMID:21737554, PMID:21801371, PMID:22632830, PMID:22995991, PMID:23139147, PMID:23298310, PMID:23579436, PMID:23592887, PMID:23675998, PMID:24033266, PMID:24591673, PMID:24853021, PMID:24936649, PMID:25326637, PMID:25429696, PMID:25460361, PMID:25612240, PMID:25688877, PMID:25741868, PMID:25917481, PMID:26387786, PMID:26820968, PMID:27453251, PMID:27630060, PMID:27884767, PMID:28388887, PMID:28492532, PMID:28507310, PMID:29631995, PMID:29650961, PMID:29743074, PMID:29843651, PMID:30029678, PMID:30311386, PMID:30578397, PMID:32581362 NCBI chr37:11,342,292...11,540,199
Ensembl chr37:11,342,384...11,533,024
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 ENG endoglin ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:18498373, PMID:23298310, PMID:24033266, PMID:25741868, PMID:26167679, PMID:26387786, PMID:28492532, PMID:30029678 NCBI chr 9:55,558,246...55,590,081
Ensembl chr 9:55,558,305...55,589,064
JBrowse link
G FOXF1 forkhead box F1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:19500772, PMID:19592680, PMID:19812545, PMID:20425831, PMID:22766610, PMID:23034409, PMID:23074687, PMID:23335808, PMID:23505205, PMID:23943206, PMID:24033266, PMID:24842713, PMID:26462560 NCBI chr 5:66,343,776...66,347,785
Ensembl chr 5:66,345,150...66,347,935
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 ID1 inhibitor of DNA binding 1, HLH protein 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 KCNA5 potassium voltage-gated channel subfamily A member 5 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:20018952, PMID:21685056, PMID:23861362, PMID:24068186, PMID:25076992, 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary pulmonary hypertension
CTD
ClinVar
PMID:23883380 NCBI chr17:20,732,779...20,771,104
Ensembl chr17:20,732,819...20,768,730
JBrowse link
G NOP58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:23579436, PMID:26387786 NCBI chr37:11,255,562...11,287,325
Ensembl chr37:11,255,589...11,287,279
JBrowse link
G SMAD1 SMAD family member 1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:21898662, PMID:26387786 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: Primary pulmonary hypertension ClinVar PMID:21898662, PMID:24728327, PMID:25502805, PMID:25741868, PMID:26387786, PMID:28492532 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary pulmonary hypertension
CTD
ClinVar
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: Primary pulmonary hypertension ClinVar PMID:25741868, PMID:31151956 NCBI chr 9:35,163,346...35,197,726
Ensembl chr 9:35,166,353...35,191,932
JBrowse link
Primary Pulmonary Hypertension, 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 OMIM NCBI chr37:11,342,292...11,540,199
Ensembl chr37:11,342,384...11,533,024
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 OMIM 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: Primary pulmonary hypertension 3 ClinVar PMID:25741868 NCBI chr32:17,761,555...17,978,056
Ensembl chr32:17,870,904...18,016,444
JBrowse link
G CAV1 caveolin 1 ISO OMIM 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 OMIM NCBI chr17:20,732,779...20,771,104
Ensembl chr17:20,732,819...20,768,730
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, PMID:18676873, PMID:22145626, PMID:22304854, PMID:22434821, PMID:22435821, PMID:22800827, PMID:22866751, PMID:23166334, PMID:24033266, PMID:24136335, PMID:24871971, PMID:25073622, PMID:25553246, PMID:25741868, PMID:27374344, PMID:29505158 NCBI chr 6:38,679,312...38,712,868
Ensembl chr 6:38,679,324...38,712,648
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:11484689, PMID:15687131, PMID:16470787, PMID:16540754, PMID:16752392, PMID:17786384, PMID:18159113, PMID:18498373, PMID:18673552, PMID:19767588, PMID:20056902, PMID:20501893, PMID:21378382, PMID:22632830, PMID:23298310, PMID:23919827, PMID:24753439, PMID:25741868, PMID:26387786, PMID:28492532, PMID:29650961, PMID:30311386, PMID:32581362 NCBI chr27:3,075,373...3,090,549
Ensembl chr27:3,076,124...3,092,469
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 BMPR1A bone morphogenetic protein receptor type 1A ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease ClinVar PMID:25741868, PMID:28492532, PMID:30029678 NCBI 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 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease
CTD
ClinVar
PMID:3291115, PMID:10903931, PMID:10973254, PMID:11015450, PMID:11115378, PMID:11502704, PMID:12358323, PMID:12821254, PMID:14985116, PMID:15059534, PMID:15146475, PMID:15358693, PMID:15591269, PMID:15965979, PMID:16429395, PMID:16717148, PMID:18159113, PMID:18356561, PMID:18503968, PMID:19555857, PMID:20002458, PMID:20096498, PMID:20534176, PMID:21737554, PMID:21801371, PMID:23298310, PMID:23579436, PMID:23592887, PMID:23675998, PMID:24591673, PMID:25429696, PMID:25612240, PMID:25741868, PMID:26387786, PMID:28415675, PMID:28492532, PMID:29843651, PMID:30029678, PMID:30311386, PMID:30578397, PMID:32581362 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: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 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 DNAH5 dynein axonemal heavy chain 5 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:11788826, PMID:22416021, PMID:25186273, PMID:26228299, PMID:28492532, PMID:30311386 NCBI chr34:816,088...1,040,052
Ensembl chr34:805,455...1,038,273
JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:29068549, PMID:30311386 NCBI chr 5:28,566,604...28,727,416
Ensembl chr 5:28,388,664...28,727,334
JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr30:7,144,727...7,248,014
Ensembl chr30:7,144,570...7,248,000
JBrowse link
G ENG endoglin ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease
ClinVar PMID:10625079, PMID:12673790, PMID:15517393, PMID:15521985, PMID:16705692, PMID:18498373, PMID:19270816, PMID:21158752, PMID:22991266, PMID:23298310, PMID:23722869, PMID:24033266, PMID:25741868, PMID:26167679, PMID:26387786, PMID:28492532, PMID:30029678, PMID:32581362 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 FAM126B family with sequence similarity 126 member B 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 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 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 GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
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 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 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 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 MPP4 membrane palmitoylated 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 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 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 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:16144131, PMID:16283678, PMID:18602922, PMID:19283792, PMID:20205264, PMID:21239990, PMID:22658618, PMID:23012243, PMID:24033266, PMID:25525159, PMID:25637381, PMID:25741868, PMID:26467025, PMID:26895986, PMID:28492532, PMID:29489754 NCBI chr 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 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 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 SMAD9 SMAD family member 9 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease ClinVar PMID:25741868, PMID:30004997, PMID:30029678 NCBI chr25:3,768,851...3,844,645
Ensembl chr25:3,779,197...3,841,321
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 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 associated with congenital heart disease ClinVar PMID:25741868, PMID:30029678, PMID:32581362 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 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 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:10767348, PMID:11170071, PMID:11484689, PMID:12114496, PMID:12700602, PMID:12843319, PMID:14684682, PMID:15024723, PMID:15065824, PMID:15375013, PMID:15517393, PMID:15687131, PMID:15712271, PMID:15880681, PMID:16123970, PMID:16282348, PMID:16429404, PMID:16470787, PMID:16540754, PMID:16542389, PMID:16690726, PMID:16705692, PMID:16706966, PMID:17384219, PMID:17786384, PMID:18159113, PMID:18285823, PMID:18498373, PMID:18673552, PMID:19357124, PMID:20056902, PMID:20414677, PMID:20501893, PMID:21158752, PMID:21378382, PMID:21651515, PMID:22377182, PMID:22553411, PMID:22632830, PMID:22991266, PMID:23124896, PMID:23298310, PMID:23722869, PMID:23805858, PMID:23919827, PMID:24196379, PMID:25318803, PMID:25326635, PMID:25741868, PMID:25970827, PMID:26176610, PMID:26387786, PMID:28492532, PMID:30311386, PMID:32581362 NCBI 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:18156574, PMID:23919827, PMID:26387786, PMID:28492532 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 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 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 SLC39A12 solute carrier family 39 member 12 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
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 CTD Direct Evidence: marker/mechanism
protein:decreased expression:lung
CTD
RGD
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 OMIM 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, autosomal dominant 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 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO OMIM 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 12677
    disease of anatomical entity 12216
      respiratory system disease 2526
        lung disease 1554
          pulmonary hypertension 285
            Dursun Syndrome 1
            Familial Cirrhosis with Pulmonary Hypertension 0
            HUPRA Syndrome 1
            Pulmonary Arterial Hypertension + 59
            Pulmonary Edema of Mountaineers 5
            Pulmonary Hypertension, Chronic Thromboembolic, without Deep Vein Thrombosis 0
            Pulmonary Hypertension, Hypoxia-Induced 11
            Rowley-Rosenberg Syndrome 0
            Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 0
            persistent fetal circulation syndrome 29
            primary pulmonary hypertension + 18
            pulmonary venoocclusive disease + 9
Path 2
Term Annotations click to browse term
  disease 12677
    disease of anatomical entity 12216
      cardiovascular system disease 3355
        vascular disease 2426
          artery disease 1606
            hypertension 813
              pulmonary hypertension 285
                Dursun Syndrome 1
                Familial Cirrhosis with Pulmonary Hypertension 0
                HUPRA Syndrome 1
                Pulmonary Arterial Hypertension + 59
                Pulmonary Edema of Mountaineers 5
                Pulmonary Hypertension, Chronic Thromboembolic, without Deep Vein Thrombosis 0
                Pulmonary Hypertension, Hypoxia-Induced 11
                Rowley-Rosenberg Syndrome 0
                Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 0
                persistent fetal circulation syndrome 29
                primary pulmonary hypertension + 18
                pulmonary venoocclusive disease + 9
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.