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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, sub-family A (ABC1), member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26780485 NCBI chr17:24,351,921...24,410,204
Ensembl chr17:24,351,950...24,410,201
JBrowse link
G Ace angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12359135 NCBI chr11:105,967,948...105,989,964
Ensembl chr11:105,967,945...105,989,964
JBrowse link
G Ace2 angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 ISO CTD Direct Evidence: therapeutic CTD PMID:31931441 NCBI chr  X:164,139,342...164,188,418
Ensembl chr  X:164,139,332...164,188,420
JBrowse link
G Acvrl1 activin A receptor, type II-like 1 susceptibility
disease_progression
ISO mRNA:increased expression:lung
ClinVar Annotator: match by term: Pulmonary hypertension
CTD Direct Evidence: marker/mechanism
associated with hereditary haemorrhagic telangiectasia;DNA:missense mutations
DNA:mutations (human)
ClinVar
CTD
PMID:11484689, PMID:15687131, PMID:16540754, 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, PMID:17392319, PMID:14684682, PMID:20056902 RGD:1601116, RGD:1601117, RGD:5128837 NCBI chr15:101,128,522...101,145,336
Ensembl chr15:101,128,522...101,145,336
JBrowse link
G Adh5 alcohol dehydrogenase 5 (class III), chi polypeptide IEP RGD PMID:20431245 RGD:5128886 NCBI chr 3:138,437,200...138,455,499
Ensembl chr 3:138,443,093...138,455,499
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing IMP RGD PMID:19168697 RGD:5686821 NCBI chr16:23,146,536...23,157,968
Ensembl chr16:23,146,536...23,158,028
JBrowse link
G Adm adrenomedullin ISO RGD PMID:14718403 RGD:1625305 NCBI chr 7:110,627,657...110,629,820
Ensembl chr 7:110,627,661...110,629,820
JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO protein:increased expression:lung (human) RGD PMID:21041689 RGD:7244258 NCBI chr17:34,597,460...34,600,937
Ensembl chr17:34,597,862...34,600,936
JBrowse link
G Agt angiotensinogen (serpin peptidase inhibitor, clade A, member 8) ISO RGD PMID:21381494 RGD:5129162 NCBI chr 8:124,556,587...124,569,706
Ensembl chr 8:124,556,534...124,569,706
JBrowse link
G Agtr1a angiotensin II receptor, type 1a onset ISO DNA:polymorphism:3' utr:1166A>C (human) RGD PMID:19332265 RGD:5147450 NCBI chr13:30,336,356...30,382,867
Ensembl chr13:30,336,441...30,382,867
JBrowse link
G Alas1 aminolevulinic acid synthase 1 ISO mRNA:increased expression:lung (rat) RGD PMID:16181105 RGD:4144185 NCBI chr 9:106,233,455...106,247,954
Ensembl chr 9:106,233,455...106,248,654
JBrowse link
G Alox5 arachidonate 5-lipoxygenase treatment ISO protein:increased expression:artery
CTD Direct Evidence: marker/mechanism
CTD PMID:14726295, PMID:9445303, PMID:31462075, PMID:31462075, PMID:8647941, PMID:14726295 RGD:1626154, RGD:14975304, RGD:14975304, RGD:734558, RGD:4890418 NCBI chr 6:116,410,071...116,461,178
Ensembl chr 6:116,410,077...116,461,178
JBrowse link
G Alox5ap arachidonate 5-lipoxygenase activating protein ISO protein:increased expression:artery RGD PMID:9445303, PMID:8647941 RGD:1626154, RGD:734558 NCBI chr 5:149,265,004...149,288,153
Ensembl chr 5:149,264,767...149,288,153
JBrowse link
G Angpt1 angiopoietin 1 ISO protein:decreased expression:pulmonary artery RGD PMID:18073453 RGD:2316069 NCBI chr15:42,424,667...42,676,977
Ensembl chr15:42,424,723...42,676,977
JBrowse link
G Angpt2 angiopoietin 2 ISO protein:increased expression:pulmonary artery (rat) RGD PMID:19712575 RGD:2314185 NCBI chr 8:18,690,263...18,741,562
Ensembl chr 8:18,690,263...18,741,562
JBrowse link
G Apln apelin ISO protein:decreased expression:plasma RGD PMID:16263185 RGD:1626175 NCBI chr  X:48,025,146...48,034,853
Ensembl chr  X:48,025,146...48,034,853
JBrowse link
G Arg2 arginase type II ISO CTD Direct Evidence: marker/mechanism CTD PMID:24951775 NCBI chr12:79,130,788...79,156,301
Ensembl chr12:79,130,777...79,156,301
JBrowse link
G Atp2a2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 treatment ISO RGD PMID:27144451, PMID:23804254 RGD:13782086, RGD:13782089 NCBI chr 5:122,453,513...122,502,225
Ensembl chr 5:122,453,513...122,502,225
JBrowse link
G Atp5a1 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 treatment ISO chronic thromboembolic pulmonary hypertension RGD PMID:21396162 RGD:13703061 NCBI chr18:77,773,768...77,782,869
Ensembl chr18:77,773,729...77,782,869
JBrowse link
G Atp5j ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F treatment ISO mRNA, protein:increased expression:lung, plasma (rat) RGD PMID:27916219, PMID:27491388 RGD:13800892, RGD:13800894 NCBI chr16:84,827,871...84,835,857
Ensembl chr16:84,827,866...84,835,625
JBrowse link
G Atp7a ATPase, Cu++ transporting, alpha polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614111 NCBI chr  X:106,027,224...106,128,161
Ensembl chr  X:106,027,276...106,124,926
JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 ISO protein:decreased expression:heart right ventricle RGD PMID:18441466 RGD:2293022 NCBI chr 1:106,538,176...106,714,290
Ensembl chr 1:106,538,178...106,714,274
JBrowse link
G Bcl2l1 BCL2-like 1 treatment ISO RGD PMID:22559233 RGD:10400914 NCBI chr 2:152,758,732...152,833,803
Ensembl chr 2:152,780,668...152,831,728
JBrowse link
G Bdkrb2 bradykinin receptor, beta 2 ISO RGD PMID:15878794 RGD:4890453 NCBI chr12:105,563,172...105,595,244
Ensembl chr12:105,563,226...105,595,237
JBrowse link
G Birc5 baculoviral IAP repeat-containing 5 ISO protein:increased expression:pulmonary artery RGD PMID:15931388, PMID:15931388 RGD:2293135, RGD:2293135 NCBI chr11:117,849,237...117,855,743
Ensembl chr11:117,849,251...117,855,743
JBrowse link
G Bmpr1a bone morphogenetic protein receptor, type 1A ISO RGD PMID:19324947 RGD:5129472 NCBI chr14:34,411,061...34,503,336
Ensembl chr14:34,410,734...34,503,341
JBrowse link
G Bmpr1b bone morphogenetic protein receptor, type 1B ISO RGD PMID:19324947 RGD:5129472 NCBI chr 3:141,837,135...142,169,585
Ensembl chr 3:141,837,136...142,169,425
JBrowse link
G Bmpr2 bone morphogenetic protein receptor, type II (serine/threonine kinase) disease_progression ISO
IMP
DNA:mutations: :multiple (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutations (human)
CTD PMID:11590841, PMID:11893684, PMID:12358323, PMID:16297860, PMID:20496075, PMID:20522807, PMID:23383100, PMID:23502781, PMID:24224048, PMID:20534176, PMID:20002458, PMID:19324947, PMID:19785764, PMID:15775752, PMID:18663089 RGD:5129237, RGD:5129238, RGD:5129472, RGD:5129239, RGD:1580076, RGD:5129474 NCBI chr 1:59,764,279...59,878,081
Ensembl chr 1:59,763,400...59,879,014
JBrowse link
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: therapeutic CTD PMID:26224795 NCBI chr17:32,196,272...32,284,743
Ensembl chr17:32,196,274...32,284,722
JBrowse link
G Calca calcitonin/calcitonin-related polypeptide, alpha ISO CTD Direct Evidence: therapeutic CTD PMID:1357980 NCBI chr 7:114,625,981...114,636,910
Ensembl chr 7:114,631,478...114,636,357
JBrowse link
G Car9 carbonic anhydrase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20110409 NCBI chr 4:43,507,026...43,513,729
Ensembl chr 4:43,506,966...43,513,729
JBrowse link
G Casr calcium-sensing receptor ISO protein:increased expression:pulmonary artery (rat) RGD PMID:22730443 RGD:7205669 NCBI chr16:36,490,585...36,562,141
Ensembl chr16:36,493,696...36,562,141
JBrowse link
G Cav1 caveolin 1, caveolae protein treatment ISO idiopathic pulmonary arterial hypertension (IPAH) RGD PMID:17470567, PMID:23538027, PMID:15353500 RGD:1625360, RGD:8662276, RGD:1581153 NCBI chr 6:17,306,335...17,341,328
Ensembl chr 6:17,306,335...17,341,452
JBrowse link
G Cavin1 caveolae associated 1 IEA OMIM:615371 MouseDO NCBI chr11:100,956,736...100,970,617
Ensembl chr11:100,956,733...100,970,887
JBrowse link
G Cbln2 cerebellin 2 precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23502781 NCBI chr18:86,711,061...86,718,283
Ensembl chr18:86,711,110...86,718,283
JBrowse link
G Ccl1 chemokine (C-C motif) ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22507635 NCBI chr11:82,176,666...82,179,812
Ensembl chr11:82,176,657...82,305,690
JBrowse link
G Ccl2 chemokine (C-C motif) ligand 2 ISO protein:increased expression:lung, plasma
CTD Direct Evidence: marker/mechanism
protein:increased expression:bronchoalveolar lavage fluid (rat)
CTD PMID:15302794, PMID:30418988, PMID:19087668, PMID:9605182 RGD:2307003, RGD:8549547 NCBI chr11:82,035,577...82,037,452
Ensembl chr11:82,035,571...82,037,453
JBrowse link
G Ccl5 chemokine (C-C motif) ligand 5 ISO protein:increased secretion:serum (human) RGD PMID:19932032 RGD:4891440 NCBI chr11:83,525,778...83,530,518
Ensembl chr11:83,525,778...83,530,518
JBrowse link
G Ccn2 cellular communication network factor 2 ISO protein:increased expression:pulmonary artery (rat) RGD PMID:19234054 RGD:2314535 NCBI chr10:24,595,442...24,598,683
Ensembl chr10:24,595,442...24,598,683
JBrowse link
G Cd209a CD209a antigen ISO RGD PMID:17107989 RGD:5131187 NCBI chr 8:3,743,395...3,748,984
Ensembl chr 8:3,743,397...3,748,984
JBrowse link
G Cd28 CD28 antigen ISO RGD PMID:19075187 RGD:5131619 NCBI chr 1:60,746,388...60,773,359
Ensembl chr 1:60,716,800...60,773,359
JBrowse link
G Cd40 CD40 antigen treatment ISO RGD PMID:25998782 RGD:11344970 NCBI chr 2:165,055,614...165,071,654
Ensembl chr 2:165,055,627...165,072,948
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:serum (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:15302794, PMID:25998782 RGD:11344970 NCBI chr  X:57,212,143...57,224,042
Ensembl chr  X:57,212,143...57,224,042
JBrowse link
G Cd86 CD86 antigen ISO protein:decreased expression:blood, myeloid dendritic cell (human) RGD PMID:19693657 RGD:4892293 NCBI chr16:36,568,956...36,666,158
Ensembl chr16:36,603,869...36,666,081
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A (P21) treatment IEP
ISO
IMP
RGD PMID:24334871, PMID:24412385, PMID:24334871 RGD:10043360, RGD:10043361, RGD:10043360 NCBI chr17:29,090,979...29,100,722
Ensembl chr17:29,090,976...29,100,727
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B treatment ISO RGD PMID:22383500 RGD:10045357 NCBI chr 6:134,920,401...134,925,525
Ensembl chr 6:134,920,401...134,925,513
JBrowse link
G Clu clusterin ISO RGD PMID:25069740 RGD:9068424 NCBI chr14:65,968,483...65,981,548
Ensembl chr14:65,968,483...65,981,547
JBrowse link
G Col1a1 collagen, type I, alpha 1 treatment ISO RGD PMID:25867313 RGD:11041577 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Col4a1 collagen, type IV, alpha 1 treatment ISO RGD PMID:25867313 RGD:11041577 NCBI chr 8:11,198,423...11,312,889
Ensembl chr 8:11,198,423...11,312,826
JBrowse link
G Crp C-reactive protein, pentraxin-related ISO associated with Pulmonary Disease, Chronic Obstructive RGD PMID:22333502 RGD:6482312 NCBI chr 1:172,698,056...172,699,966
Ensembl chr 1:172,698,055...172,833,031
JBrowse link
G Csf3 colony stimulating factor 3 (granulocyte) treatment ISO RGD PMID:17186992, PMID:12524378 RGD:11039432, RGD:11039539 NCBI chr11:98,700,183...98,703,631
Ensembl chr11:98,701,263...98,703,629
JBrowse link
G Cx3cl1 chemokine (C-X3-C motif) ligand 1 ISO mRNA, protein:increased expression:lung
associated with Heart Defects, Congenital
RGD PMID:18630689, PMID:20869263, PMID:19948918 RGD:4891889, RGD:4891883, RGD:4891887 NCBI chr 8:94,772,180...94,782,427
Ensembl chr 8:94,772,009...94,782,427
JBrowse link
G Cx3cr1 chemokine (C-X3-C motif) receptor 1 ISO mRNA, protein:increased expression:lung
associated with Scleroderma, Systemic;DNA:polymorphisms: :p.V249I, p.T280M (human)
RGD PMID:17182651, PMID:16584113 RGD:4891893, RGD:4891896 NCBI chr 9:120,048,683...120,068,296
Ensembl chr 9:119,901,616...120,069,879
JBrowse link
G Cxcl15 chemokine (C-X-C motif) ligand 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15302794 NCBI chr 5:90,794,534...90,803,067
Ensembl chr 5:90,794,534...90,803,067
JBrowse link
G Cxcr4 chemokine (C-X-C motif) receptor 4 treatment ISO RGD PMID:21294880 RGD:6480473 NCBI chr 1:128,588,199...128,592,299
Ensembl chr 1:128,588,199...128,592,293
JBrowse link
G Cyba cytochrome b-245, alpha polypeptide ISO
IEP
associated with Anoxia;mRNA, protein:increased expression:lung RGD PMID:18424632, PMID:18952568 RGD:4773907, RGD:4762683 NCBI chr 8:122,424,771...122,432,940
Ensembl chr 8:122,424,776...122,432,930
JBrowse link
G Cybb cytochrome b-245, beta polypeptide treatment IMP
ISO
associated with Anoxia RGD PMID:18952568, PMID:18424632 RGD:4762683, RGD:4773907 NCBI chr  X:9,435,252...9,487,766
Ensembl chr  X:9,435,252...9,487,771
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO mRNA,protein:increased expression:lung RGD PMID:28956952 RGD:13702097 NCBI chr 9:57,687,928...57,703,824
Ensembl chr 9:57,687,928...57,703,824
JBrowse link
G Cyp2j6 cytochrome P450, family 2, subfamily j, polypeptide 6 ISO RGD PMID:20118222 RGD:7243137 NCBI chr 4:96,516,138...96,564,305
Ensembl chr 4:96,516,138...96,553,661
JBrowse link
G Cyp2j9 cytochrome P450, family 2, subfamily j, polypeptide 9 ISO RGD PMID:20118222 RGD:7243137 NCBI chr 4:96,568,424...96,592,523
Ensembl chr 4:96,568,429...96,591,578
JBrowse link
G Cysltr1 cysteinyl leukotriene receptor 1 ISO associated with Anoxia RGD PMID:12910720 RGD:4848274 NCBI chr  X:106,576,509...106,603,679
Ensembl chr  X:106,574,346...106,603,679
JBrowse link
G Ece1 endothelin converting enzyme 1 ISO associated with Anoxia; RGD PMID:18767389 RGD:7243939 NCBI chr 4:137,862,237...137,965,229
Ensembl chr 4:137,862,237...137,965,229
JBrowse link
G Edn1 endothelin 1 ISO
IEP
associated with Pulmonary Disease, Chronic Obstructive; protein:increased secretion:plasma (human)
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:lung (rat)
Hypertension, Portopulmonary; protein:increased secretion:plasma (human)
Hypertension, Heritable Pulmonary Artery; mRNA:increased expression:bone marrow, macrophage (mouse)
CTD PMID:7549228, PMID:9918753, PMID:12391278, PMID:20929026, PMID:20967148, PMID:20890431, PMID:20889845, PMID:20498147, PMID:20562228 RGD:4144865, RGD:4144128, RGD:4144882, RGD:4144877 NCBI chr13:42,301,476...42,307,990
Ensembl chr13:42,301,476...42,307,990
JBrowse link
G Edn2 endothelin 2 ISO RGD PMID:10598486 RGD:1580918 NCBI chr 4:120,161,206...120,167,360
Ensembl chr 4:120,161,206...120,167,360
JBrowse link
G Ednra endothelin receptor type A ISO RGD PMID:20531217, PMID:18506008, PMID:20562228, PMID:15243299 RGD:4892283, RGD:4892320, RGD:4144877, RGD:1580949 NCBI chr 8:77,663,029...77,724,452
Ensembl chr 8:77,663,031...77,724,464
JBrowse link
G Ednrb endothelin receptor type B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15927975, PMID:20562228, PMID:15243299, PMID:18091567 RGD:4144877, RGD:1580949, RGD:4892289 NCBI chr14:103,814,615...103,844,508
Ensembl chr14:103,814,625...103,844,402
JBrowse link
G Egfr epidermal growth factor receptor IMP
ISO
protein:increased expression:lung, arteriole (human) RGD PMID:12896876, PMID:21492463 RGD:5131639, RGD:5131626 NCBI chr11:16,752,203...16,913,907
Ensembl chr11:16,752,203...16,918,158
JBrowse link
G Egr1 early growth response 1 IEP
ISO
IMP
mRNA, protein:increased expression:lung (mouse)
protein:increased expression:lung (human)
mRNA, protein:increased expression:lung (rat)
RGD PMID:18599502, PMID:21924231, PMID:20889906, PMID:20889906, PMID:20023177 RGD:5131890, RGD:10395308, RGD:5131875, RGD:5131875, RGD:5131883 NCBI chr18:34,861,207...34,864,956
Ensembl chr18:34,859,823...34,864,984
JBrowse link
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24292273 NCBI chr 2:118,388,583...118,475,234
Ensembl chr 2:118,388,618...118,475,234
JBrowse link
G Eng endoglin IMP RGD PMID:20042709 RGD:11041178 NCBI chr 2:32,646,595...32,682,669
Ensembl chr 2:32,646,595...32,682,669
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 chr17:86,753,864...86,833,410
Ensembl chr17:86,753,700...86,833,410
JBrowse link
G Ephx2 epoxide hydrolase 2, cytoplasmic ISO RGD PMID:19226702 RGD:5688731 NCBI chr14:66,084,372...66,124,522
Ensembl chr14:66,084,374...66,124,500
JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:22559233 RGD:10400914 NCBI chr 5:137,483,020...137,485,816
Ensembl chr 5:137,483,020...137,533,242
JBrowse link
G Esr1 estrogen receptor 1 (alpha) ISO RGD PMID:20081107 RGD:4892253 NCBI chr10:4,611,989...5,005,633
Ensembl chr10:4,611,593...5,005,614
JBrowse link
G Esr2 estrogen receptor 2 (beta) ISO RGD PMID:21700911 RGD:5508791 NCBI chr12:76,120,419...76,177,259
Ensembl chr12:76,120,419...76,177,259
JBrowse link
G F5 coagulation factor V ISO Chronic thromboembolic pulmonary hypertension (CTEPH) RGD PMID:20182352 RGD:4892669 NCBI chr 1:164,151,835...164,220,277
Ensembl chr 1:164,151,838...164,220,277
JBrowse link
G Fbln5 fibulin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12189163 NCBI chr12:101,746,565...101,819,119
Ensembl chr12:101,746,565...101,819,055
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO mRNA:increased expression:lung RGD PMID:19197140, PMID:19197140 RGD:2315911, RGD:2315911 NCBI chr 3:37,348,477...37,410,106
Ensembl chr 3:37,348,346...37,410,108
JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 ISO RGD PMID:19197140 RGD:2315911 NCBI chr 8:25,518,759...25,575,718
Ensembl chr 8:25,513,654...25,575,718
JBrowse link
G Foxo1 forkhead box O1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr 3:52,268,337...52,350,109
Ensembl chr 3:52,268,336...52,353,221
JBrowse link
G Gata4 GATA binding protein 4 ISO protein:increased expression:heart right ventricle RGD PMID:21059997 RGD:7207053 NCBI chr14:63,198,914...63,271,712
Ensembl chr14:63,198,922...63,271,692
JBrowse link
G Gata6 GATA binding protein 6 ISO
IMP
mRNA, protein:decreased expression:lung
protein:decreased expression:lung, arteriole, venule (human)
RGD PMID:19842842, PMID:23583651, PMID:23583651 RGD:2314194, RGD:13208869, RGD:13208869 NCBI chr18:11,052,510...11,085,636
Ensembl chr18:11,052,064...11,085,635
JBrowse link
G Gba glucosidase, beta, acid ISO CTD Direct Evidence: marker/mechanism CTD PMID:12359135 NCBI chr 3:89,202,905...89,208,873
Ensembl chr 3:89,202,928...89,208,966
JBrowse link
G Gdf2 growth differentiation factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26801773 NCBI chr14:33,941,039...33,947,198
Ensembl chr14:33,941,039...33,947,198
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 chr10:56,377,300...56,390,419
Ensembl chr10:56,377,330...56,402,513
JBrowse link
G Gpr182 G protein-coupled receptor 182 ISO mRNA:increased expression:lung RGD PMID:12622928 RGD:1625768 NCBI chr10:127,749,602...127,751,798
Ensembl chr10:127,747,276...127,751,732
JBrowse link
G Has1 hyaluronan synthase 1 ISO RGD PMID:19915162 RGD:9588633 NCBI chr17:17,833,691...17,855,589
Ensembl chr17:17,843,323...17,855,205
JBrowse link
G Has2 hyaluronan synthase 2 ISO mRNA:increased expression:lung RGD PMID:19915162 RGD:9588633 NCBI chr15:56,665,627...56,694,546
Ensembl chr15:56,665,627...56,694,539
JBrowse link
G Has3 hyaluronan synthase 3 ISO mRNA:decreased expression:lung RGD PMID:19915162 RGD:9588633 NCBI chr 8:106,870,242...106,882,902
Ensembl chr 8:106,870,242...106,884,566
JBrowse link
G Hdac1 histone deacetylase 1 ISO protein:increased expression:lung: RGD PMID:22711276, PMID:22711276 RGD:9590133, RGD:9590133 NCBI chr 4:129,516,104...129,542,646
Ensembl chr 4:129,516,104...129,542,713
JBrowse link
G Hdac2 histone deacetylase 2 ISO protein:decreased expression:lung: RGD PMID:22711276 RGD:9590133 NCBI chr10:36,974,297...37,001,889
Ensembl chr10:36,974,544...37,001,889
JBrowse link
G Hdac3 histone deacetylase 3 ISO protein:decreased expression:lung: RGD PMID:22711276 RGD:9590133 NCBI chr18:37,936,971...37,955,015
Ensembl chr18:37,935,844...37,955,016
JBrowse link
G Hdac4 histone deacetylase 4 ISO protein:increased expression:lung: RGD PMID:22711276 RGD:9590133 NCBI chr 1:91,928,779...92,195,702
Ensembl chr 1:91,928,779...92,195,699
JBrowse link
G Hdac5 histone deacetylase 5 ISO protein:increased expression:lung: RGD PMID:22711276, PMID:22711276 RGD:9590133, RGD:9590133 NCBI chr11:102,195,747...102,230,172
Ensembl chr11:102,194,432...102,230,166
JBrowse link
G Hif1a hypoxia inducible factor 1, alpha subunit ISO associated with Anoxia;protein:increased expression:pulmonary artery
CTD Direct Evidence: marker/mechanism
CTD PMID:20110409, PMID:17213961, PMID:16215633 RGD:1601553, RGD:10395375 NCBI chr12:73,901,324...73,947,554
Ensembl chr12:73,901,375...73,947,530
JBrowse link
G Hif3a hypoxia inducible factor 3, alpha subunit ISO RGD PMID:16215633 RGD:10395375 NCBI chr 7:17,030,993...17,062,427
Ensembl chr 7:17,031,507...17,062,427
JBrowse link
G Hk1 hexokinase 1 ISO mRNA:increased expression:lung RGD PMID:25767292 RGD:11353880 NCBI chr10:62,268,855...62,379,920
Ensembl chr10:62,268,855...62,379,908
JBrowse link
G Hmgb1 high mobility group box 1 treatment ISO RGD PMID:25032709 RGD:10402082 NCBI chr 5:149,046,702...149,053,057
Ensembl chr 5:149,046,702...149,184,489
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-Coenzyme A reductase ISO RGD PMID:12750068 RGD:5508701 NCBI chr13:96,648,962...96,670,936
Ensembl chr13:96,648,967...96,670,936
JBrowse link
G Hmox1 heme oxygenase 1 ISO
IMP
RGD PMID:14970910, PMID:20957739, PMID:20957739, PMID:19409105 RGD:1582715, RGD:4145325, RGD:4145325, RGD:4145307 NCBI chr 8:75,093,618...75,100,593
Ensembl chr 8:75,093,621...75,100,589
JBrowse link
G Hp haptoglobin treatment ISO protein:decreased expression:serum RGD PMID:2043024, PMID:25656991, PMID:19023114, PMID:19703762 RGD:1626353, RGD:11041794, RGD:5147440, RGD:5147420 NCBI chr 8:109,575,128...109,579,172
Ensembl chr 8:109,575,128...109,579,172
JBrowse link
G Hpgd hydroxyprostaglandin dehydrogenase 15 (NAD) ISO mRNA, protein:increased expression:lung RGD PMID:24657469 RGD:11667099 NCBI chr 8:56,294,552...56,321,046
Ensembl chr 8:56,294,585...56,321,043
JBrowse link
G Htr2b 5-hydroxytryptamine (serotonin) receptor 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:14659797 NCBI chr 1:86,097,546...86,116,231
Ensembl chr 1:86,099,026...86,111,970
JBrowse link
G Hyal1 hyaluronoglucosaminidase 1 ISO mRNA:decreased expression:lung RGD PMID:19915162 RGD:9588633 NCBI chr 9:107,576,950...107,581,699
Ensembl chr 9:107,576,927...107,581,710
JBrowse link
G Hyal2 hyaluronoglucosaminidase 2 ISO mRNA:decreased expression:lung RGD PMID:19915162 RGD:9588633 NCBI chr 9:107,567,873...107,572,778
Ensembl chr 9:107,567,945...107,572,779
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 chr 9:21,015,940...21,028,814
Ensembl chr 9:21,015,985...21,028,817
JBrowse link
G Id1 inhibitor of DNA binding 1, HLH protein ISO RGD PMID:20522807 RGD:9686087 NCBI chr 2:152,736,251...152,737,410
Ensembl chr 2:152,736,251...152,737,410
JBrowse link
G Ifngr1 interferon gamma receptor 1 ISO mRNA: increased expression RGD PMID:20808962 RGD:4892610 NCBI chr10:19,591,949...19,610,229
Ensembl chr10:19,591,949...19,610,229
JBrowse link
G Il10 interleukin 10 disease_progression ISO protein:increased expression:serum RGD PMID:20713898 RGD:4142530 NCBI chr 1:131,019,845...131,024,970
Ensembl chr 1:131,019,845...131,024,974
JBrowse link
G Il13 interleukin 13 IEP
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 chr11:53,631,323...53,634,702
Ensembl chr11:53,631,324...53,634,702
JBrowse link
G Il13ra1 interleukin 13 receptor, alpha 1 IMP
ISO
RGD PMID:20671265, PMID:20808962 RGD:4892611, RGD:4892610 NCBI chr  X:36,112,108...36,171,262
Ensembl chr  X:36,112,110...36,171,259
JBrowse link
G Il13ra2 interleukin 13 receptor, alpha 2 ISO mRNA:increased expression:lung RGD PMID:20522789 RGD:4892612 NCBI chr  X:147,383,478...147,429,192
Ensembl chr  X:147,383,476...147,429,192
JBrowse link
G Il18 interleukin 18 IMP RGD PMID:17400729 RGD:4889590 NCBI chr 9:50,554,700...50,581,841
Ensembl chr 9:50,554,827...50,581,840
JBrowse link
G Il1b interleukin 1 beta ISO associated with Scleroderma, Limited;protein:increased expression:serum RGD PMID:20808962, PMID:20713898 RGD:4892610, RGD:4142530 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO RGD PMID:7946395 RGD:4143197 NCBI chr 2:24,336,860...24,351,491
Ensembl chr 2:24,336,853...24,351,494
JBrowse link
G Il23r interleukin 23 receptor ISO associated with Scleroderma, Systemic;DNA:SNPs: :rs11209026, rs11465804 (human) RGD PMID:19918037 RGD:5096624 NCBI chr 6:67,422,932...67,491,855
Ensembl chr 6:67,422,932...67,491,855
JBrowse link
G Il4 interleukin 4 IMP RGD PMID:20889544 RGD:5128515 NCBI chr11:53,612,460...53,618,665
Ensembl chr11:53,602,982...53,618,669
JBrowse link
G Il6 interleukin 6 disease_progression ISO RGD PMID:20713898, PMID:20693255 RGD:4142530, RGD:4143246 NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Kcna5 potassium voltage-gated channel, shaker-related subfamily, member 5 ISO DNA:SNPs:promoter, cds
CTD Direct Evidence: marker/mechanism
CTD PMID:27522126, PMID:17267549, PMID:20303989, PMID:17596340 RGD:1627654, RGD:7242752, RGD:1627651 NCBI chr 6:126,532,551...126,535,555
Ensembl chr 6:126,532,551...126,535,412
JBrowse link
G Kcnk3 potassium channel, subfamily K, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30365877 NCBI chr 5:30,588,170...30,625,270
Ensembl chr 5:30,588,170...30,625,271
JBrowse link
G Kcnma1 potassium large conductance calcium-activated channel, subfamily M, alpha member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28090300 NCBI chr14:23,292,288...24,005,110
Ensembl chr14:23,289,431...24,014,491
JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30689673 NCBI chr 4:101,717,137...101,815,352
Ensembl chr 4:101,717,404...101,815,352
JBrowse link
G Lox lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614111 NCBI chr18:52,516,060...52,529,867
Ensembl chr18:52,516,067...52,529,867
JBrowse link
G Mapk1 mitogen-activated protein kinase 1 treatment ISO RGD PMID:25907942 RGD:13800893 NCBI chr16:16,983,382...17,047,453
Ensembl chr16:16,983,382...17,047,453
JBrowse link
G Mapk3 mitogen-activated protein kinase 3 treatment ISO RGD PMID:25907942 RGD:13800893 NCBI chr 7:126,759,626...126,765,816
Ensembl chr 7:126,759,601...126,765,819
JBrowse link
G Mfn1 mitofusin 1 ISO protein:decreased expression:heart right ventricle (rat) RGD PMID:27422986 RGD:12910832 NCBI chr 3:32,529,443...32,579,225
Ensembl chr 3:32,529,465...32,579,239
JBrowse link
G Mif macrophage migration inhibitory factor (glycosylation-inhibiting factor) ISO associated with sclerodema, systemic; protein:increased expression:serum RGD PMID:18618071 RGD:4891006 NCBI chr10:75,859,353...75,860,277
Ensembl chr10:75,859,353...75,860,240
JBrowse link
G Mir125a microRNA 125a treatment ISO RGD PMID:29700287 RGD:26884455 NCBI chr17:17,830,812...17,830,879
Ensembl chr17:17,830,812...17,830,879
JBrowse link
G Mir204 microRNA 204 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26224795 NCBI chr19:22,750,605...22,750,672
Ensembl chr19:22,750,605...22,750,672
JBrowse link
G Mir223 microRNA 223 treatment ISO Chronic Intermittent Hypoxia
RNA:decreased expression:lung, pulmonary aorta, pulmonary aorta smooth muscle
RGD PMID:30246291, PMID:30507047, PMID:26084306, PMID:26084306 RGD:25823198, RGD:25824849, RGD:25824847, RGD:25824847 NCBI chr  X:96,242,817...96,242,926
Ensembl chr  X:96,242,817...96,242,926
JBrowse link
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) ISO RGD PMID:23087098 RGD:7207217 NCBI chr 9:7,464,141...7,476,869
Ensembl chr 9:7,464,141...7,476,869
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:21063214, PMID:23087098, PMID:16867026, PMID:17133179, PMID:18355767 RGD:5129210, RGD:7207217, RGD:1642028, RGD:1642053, RGD:5130155 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO RGD PMID:23470622 RGD:10041039 NCBI chr 4:148,448,582...148,557,685
Ensembl chr 4:148,448,611...148,557,683
JBrowse link
G Myc myelocytomatosis oncogene treatment ISO RGD PMID:22306243 RGD:7240564 NCBI chr15:61,985,341...61,990,361
Ensembl chr15:61,985,391...61,990,374
JBrowse link
G Nampt nicotinamide phosphoribosyltransferase susceptibility ISO
IMP
IEP
mRNA,protein:increased expression:lung,pulmonary arterial endothelial cell:
protein:increased expression:lung:
RGD PMID:28202489, PMID:28202489, PMID:28202489 RGD:13781882, RGD:13781882, RGD:13781882 NCBI chr12:32,820,335...32,853,369
Ensembl chr12:32,819,545...32,853,349
JBrowse link
G Nfatc2 nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27522126, PMID:17596340 RGD:1627651 NCBI chr 2:168,476,410...168,601,657
Ensembl chr 2:168,476,410...168,601,657
JBrowse link
G Nos2 nitric oxide synthase 2, inducible onset IMP
ISO
associated with Anoxia; mouse gene in rat model
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 Scleroderma, Systemic; DNA:repeats, SNPs:promoter:(CCTTT), c.-1026C>T, c.-277A>G (human)
RGD PMID:11104748, PMID:16113050, PMID:16456243, PMID:19912632, PMID:16813666 RGD:4891468, RGD:1580936, RGD:1580940, RGD:5132602, RGD:4891462 NCBI chr11:78,920,787...78,960,226
Ensembl chr11:78,920,787...78,960,254
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell treatment
susceptibility
ISO
IEP
IMP
DNA:polymorphism:cds:p.E298D (human)
CTD Direct Evidence: marker/mechanism
associated with Beta-Thalassemia;DNA:repeats:intron:
mRNA, protein:increased expression:pulmonary endothelial cell
associated with heart disease; protein:increased expression:endothelial cell
RNA:increased expression:lung
protein:increased expression:arteriole
associated with chronic obstructive pulmonary disease; DNA:polymorphism:cds:p.G894T (human)
CTD PMID:21144100, PMID:21144100, PMID:29151278, PMID:25699607, PMID:20724942, PMID:19912632, PMID:11686901, PMID:21111729, PMID:17065228, PMID:19487814, PMID:20215577, PMID:18953956 RGD:4892009, RGD:13504742, RGD:11533642, RGD:4892004, RGD:5132602, RGD:5132631, RGD:4892010, RGD:4892043, RGD:4892039, RGD:4892038, RGD:4892042 NCBI chr 5:24,364,816...24,384,474
Ensembl chr 5:24,364,810...24,384,474
JBrowse link
G Nox4 NADPH oxidase 4 IEP associated with Anoxia;mRNA, protein:increased expression:lung RGD PMID:18952568 RGD:4762683 NCBI chr 7:87,244,430...87,398,710
Ensembl chr 7:87,246,096...87,398,710
JBrowse link
G Nppa natriuretic peptide type A ISO RGD PMID:2136863 RGD:7247720 NCBI chr 4:148,000,722...148,002,074
Ensembl chr 4:148,000,722...148,002,079
JBrowse link
G Nppb natriuretic peptide type B severity ISO protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
CTD PMID:20408845, PMID:21351102, PMID:16893710, PMID:16936438 RGD:1642205, RGD:1642203 NCBI chr 4:147,985,786...147,987,205
Ensembl chr 4:147,985,788...147,987,205
JBrowse link
G Pde3a phosphodiesterase 3A, cGMP inhibited ISO mRNA:increased expression:pulmonary artery RGD PMID:12466227 RGD:1582528 NCBI chr 6:141,249,269...141,506,862
Ensembl chr 6:141,249,269...141,507,448
JBrowse link
G Pde5a phosphodiesterase 5A, cGMP-specific ISO RGD PMID:19881228 RGD:2314460 NCBI chr 3:122,729,158...122,859,374
Ensembl chr 3:122,728,947...122,859,374
JBrowse link
G Pdgfa platelet derived growth factor, alpha ISO RGD PMID:8447423 RGD:1580847 NCBI chr 5:138,976,014...139,000,792
Ensembl chr 5:138,976,014...138,997,370
JBrowse link
G Pdgfb platelet derived growth factor, B polypeptide ISO
IMP
RGD PMID:8447423, PMID:21819559, PMID:22523431 RGD:1580847, RGD:6482859, RGD:6482831 NCBI chr15:79,995,865...80,024,614
Ensembl chr15:79,995,874...80,014,977
JBrowse link
G Pdia3 protein disulfide isomerase associated 3 ISO protein:increased expression:lung: RGD PMID:23315792 RGD:9999167 NCBI chr 2:121,413,902...121,438,687
Ensembl chr 2:121,413,775...121,438,687
JBrowse link
G Pecam1 platelet/endothelial cell adhesion molecule 1 treatment ISO RGD PMID:22559233 RGD:10400914 NCBI chr11:106,654,213...106,715,281
Ensembl chr11:106,654,217...106,750,628
JBrowse link
G Pgf placental growth factor ISO associated with Anemia, Sickle Cell;protein:increased expression:plasma
associated with Heart Defects, Congenital
RGD PMID:20040765, PMID:20195855 RGD:6483588, RGD:6483610 NCBI chr12:85,166,637...85,177,785
Ensembl chr12:85,166,635...85,177,790
JBrowse link
G Pms2 PMS1 homolog2, 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 5:143,909,901...143,972,745
Ensembl chr 5:143,909,964...143,933,968
JBrowse link
G Prkg1 protein kinase, cGMP-dependent, type I ISO CTD Direct Evidence: marker/mechanism CTD PMID:21351102 NCBI chr19:30,564,487...31,765,268
Ensembl chr19:30,564,489...31,765,033
JBrowse link
G Ptgis prostaglandin I2 (prostacyclin) synthase susceptibility ISO rat gene in a mouse model RGD PMID:15684702, PMID:10359560 RGD:1580695, RGD:727270 NCBI chr 2:167,203,194...167,252,150
Ensembl chr 2:167,191,805...167,240,604
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO
IMP
anoxia associated; RGD PMID:18542928, PMID:19577709 RGD:2300276, RGD:5135495 NCBI chr 1:150,100,031...150,108,234
Ensembl chr 1:150,100,031...150,108,227
JBrowse link
G Ptk2 PTK2 protein tyrosine kinase 2 ISO RGD PMID:16244766 RGD:1581290 NCBI chr15:73,205,102...73,423,820
Ensembl chr15:73,205,102...73,423,280
JBrowse link
G Ramp2 receptor (calcitonin) activity modifying protein 2 ISO mRNA:increased expression:heart right ventricle RGD PMID:17437045 RGD:1642678 NCBI chr11:101,246,334...101,248,250
Ensembl chr11:101,246,028...101,259,546
JBrowse link
G Rela v-rel reticuloendotheliosis viral oncogene homolog A (avian) ISO protein:altered localization:nucleus, blood vessel endothelial cell, lung RGD PMID:17934115 RGD:2298843 NCBI chr19:5,637,442...5,648,134
Ensembl chr19:5,637,483...5,648,130
JBrowse link
G Retnla resistin like alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:20582166 NCBI chr16:48,842,609...48,844,461
Ensembl chr16:48,842,551...48,844,461
JBrowse link
G Rhoa ras homolog family member A ISO protein:altered localization:pulmonary artery
protein:altered localization:membrane, artery, lung
RGD PMID:16322374, PMID:18091588 RGD:1642819, RGD:2298877 NCBI chr 9:108,306,160...108,337,943
Ensembl chr 9:108,306,129...108,337,934
JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 treatment ISO mRNA, protein:decreased expression:lung
DNA:polymorphism:3'utr
RGD PMID:18337154, PMID:27115515, PMID:20300292 RGD:4143529, RGD:11073610, RGD:4143527 NCBI chr 5:137,061,504...137,072,272
Ensembl chr 5:137,061,504...137,072,268
JBrowse link
G Slc2a4 solute carrier family 2 (facilitated glucose transporter), member 4 ISO RGD PMID:19043358 RGD:2313622 NCBI chr11:69,942,286...69,948,216
Ensembl chr11:69,942,539...69,948,188
JBrowse link
G Slc31a1 solute carrier family 31, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614111 NCBI chr 4:62,360,583...62,391,769
Ensembl chr 4:62,360,727...62,391,769
JBrowse link
G Slc6a4 solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 onset
severity
no_association
ISO
IMP
DNA:repeat:promoter (human)
CTD Direct Evidence: marker/mechanism
associated with Heart Septal Defects, Ventricular;DNA:polymorphisms (human)
associated with Anoxia
associated with Pulmonary Disease, Chronic Obstructive;DNA:polymorphism (human)
DNA:polymorphism, repeat:promoter, intron (human)
CTD PMID:18506000, PMID:16339917, PMID:19886858, PMID:19736308, PMID:11259539, PMID:19556740, PMID:16399993, PMID:19736308, PMID:19473340, PMID:18074800 RGD:4889442, RGD:4889430, RGD:4889432, RGD:4889445, RGD:4889434, RGD:4889440, RGD:4889432, RGD:4889435, RGD:4889437 NCBI chr11:76,998,597...77,032,343
Ensembl chr11:76,998,603...77,032,340
JBrowse link
G Slc8a1 solute carrier family 8 (sodium/calcium exchanger), member 1 ISO protein:increased expression:pulmonary artery, smooth muscle cell RGD PMID:17192285 RGD:1642711 NCBI chr17:81,373,105...81,738,387
Ensembl chr17:81,373,105...81,738,377
JBrowse link
G Smad1 SMAD family member 1 ISO protein:decreased phosphorylation:lung, vascular associated smooth muscle cell
protein:decreased expression, increased phosphorylation:lung
RGD PMID:17347486, PMID:18367643 RGD:1643222, RGD:12903274 NCBI chr 8:79,338,395...79,399,428
Ensembl chr 8:79,338,395...79,399,518
JBrowse link
G Smad4 SMAD family member 4 ISO RGD PMID:17347486, PMID:18367643 RGD:1643222, RGD:12903274 NCBI chr18:73,634,790...73,703,791
Ensembl chr18:73,639,009...73,703,780
JBrowse link
G Smad6 SMAD family member 6 ISO mRNA:decreased expression:lung RGD PMID:17347486 RGD:1643222 NCBI chr 9:63,953,076...64,022,085
Ensembl chr 9:63,953,076...64,022,059
JBrowse link
G Smad7 SMAD family member 7 ISO RGD PMID:17347486 RGD:1643222 NCBI chr18:75,367,365...75,395,935
Ensembl chr18:75,367,529...75,395,935
JBrowse link
G Smad9 SMAD family member 9 ISO RGD PMID:17347486 RGD:1643222 NCBI chr 3:54,755,455...54,801,662
Ensembl chr 3:54,755,582...54,801,257
JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3, neutral treatment ISO RGD PMID:19088082 RGD:10042965 NCBI chr 8:106,252,548...106,337,965
Ensembl chr 8:106,252,548...106,337,988
JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:20110409 NCBI chr17:13,007,839...13,018,119
Ensembl chr17:13,006,846...13,040,063
JBrowse link
G Tac1 tachykinin 1 ISO RGD PMID:12662901 RGD:5147638 NCBI chr 6:7,555,061...7,562,978
Ensembl chr 6:7,554,879...7,565,834
JBrowse link
G Tacr1 tachykinin receptor 1 ISO RGD PMID:12662901 RGD:5147638 NCBI chr 6:82,402,003...82,560,104
Ensembl chr 6:82,402,334...82,560,104
JBrowse link
G Tacr2 tachykinin receptor 2 ISO RGD PMID:12662901 RGD:5147638 NCBI chr10:62,252,438...62,265,990
Ensembl chr10:62,252,438...62,265,990
JBrowse link
G Tek TEK receptor tyrosine kinase ISO mRNA, protein:increased expression:lung RGD PMID:16917117 RGD:1601487 NCBI chr 4:94,739,086...94,874,976
Ensembl chr 4:94,739,289...94,874,976
JBrowse link
G Tert telomerase reverse transcriptase treatment ISO RGD PMID:24376652, PMID:24376652 RGD:11038675, RGD:11038675 NCBI chr13:73,626,911...73,649,843
Ensembl chr13:73,626,911...73,649,843
JBrowse link
G Tgfa transforming growth factor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18424623 NCBI chr 6:86,195,038...86,275,744
Ensembl chr 6:86,195,223...86,275,719
JBrowse link
G Tgfb1 transforming growth factor, beta 1 onset ISO DNA:SNPs: :multiple (human)
protein:increased expression:blood
RGD PMID:18496036, PMID:19324949 RGD:4145273, RGD:4145138 NCBI chr 7:25,687,002...25,705,077
Ensembl chr 7:25,687,002...25,705,077
JBrowse link
G Tgfbr1 transforming growth factor, beta receptor I ISO RGD PMID:18202349 RGD:2302019 NCBI chr 4:47,353,222...47,414,926
Ensembl chr 4:47,353,222...47,414,931
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor II ISO mRNA:decreased expression:lung RGD PMID:17392319 RGD:1601116 NCBI chr 9:116,087,695...116,175,363
Ensembl chr 9:116,084,293...116,175,360
JBrowse link
G Thbd thrombomodulin ISO associated with Mixed Connective Tissue Disease RGD PMID:16784493 RGD:1601639 NCBI chr 2:148,404,471...148,408,188
Ensembl chr 2:148,404,466...148,408,188
JBrowse link
G Thpo thrombopoietin ISO protein:increased expression:pulmonary artery, plasma RGD PMID:12487786 RGD:1580087 NCBI chr16:20,724,454...20,734,511
Ensembl chr16:20,724,454...20,734,511
JBrowse link
G Tlr4 toll-like receptor 4 IMP associated with anoxia RGD PMID:20205596 RGD:4144108 NCBI chr 4:66,827,551...66,846,581
Ensembl chr 4:66,827,584...66,930,284
JBrowse link
G Tnc tenascin C severity ISO protein:increased expression:plasma RGD PMID:20528622, PMID:19288153, PMID:15879421, PMID:16782755 RGD:4889562, RGD:4889564, RGD:4889570, RGD:4889567 NCBI chr 4:63,959,785...64,047,015
Ensembl chr 4:63,959,785...64,047,015
JBrowse link
G Tnf tumor necrosis factor ISO
IMP
associated with pulmonary disease, chronic obstructive; protein:increased expression:serum
CTD Direct Evidence: therapeutic
associated with Pulmonary Edema; protein:increased expression:Bronchoalveolar Lavage Fluid
CTD PMID:2518282, PMID:16899829, PMID:9628235, PMID:12391106 RGD:4143280, RGD:4142833, RGD:4143422 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Tph1 tryptophan hydroxylase 1 severity IMP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:18506000, PMID:17675372 RGD:5686352 NCBI chr 7:46,644,641...46,672,537
Ensembl chr 7:46,644,641...46,672,537
JBrowse link
G Tph2 tryptophan hydroxylase 2 severity IAGP DNA:SNP: :1473C>G (mouse) RGD PMID:17675372 RGD:5686352 NCBI chr10:115,078,641...115,185,022
Ensembl chr10:115,078,641...115,185,022
JBrowse link
G Trp53 transformation related protein 53 treatment IMP RGD PMID:24334871 RGD:10043360 NCBI chr11:69,580,348...69,591,873
Ensembl chr11:69,580,359...69,591,873
JBrowse link
G Trp53bp1 transformation related protein 53 binding protein 1 ISO protein:increased expression:lung RGD PMID:24270264 RGD:9586752 NCBI chr 2:121,194,835...121,296,354
Ensembl chr 2:121,193,281...121,271,407
JBrowse link
G Trpc3 transient receptor potential cation channel, subfamily C, member 3 ISO RGD PMID:15358862 RGD:1580490 NCBI chr 3:36,620,482...36,690,429
Ensembl chr 3:36,620,482...36,690,167
JBrowse link
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 ISO RGD PMID:15358862 RGD:1580490 NCBI chr 9:8,543,867...8,680,752
Ensembl chr 9:8,544,142...8,680,741
JBrowse link
G Uts2 urotensin 2 ISO RGD PMID:15042392 RGD:2306848 NCBI chr 4:150,997,097...151,001,810
Ensembl chr 4:150,997,097...151,001,810
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO protein:increased expression:blood vessel endothelium RGD PMID:17934115 RGD:2298843 NCBI chr 3:116,110,020...116,129,688
Ensembl chr 3:116,109,949...116,129,688
JBrowse link
G Vegfb vascular endothelial growth factor B ISO RGD PMID:12547729 RGD:1625708 NCBI chr19:6,982,472...6,987,651
Ensembl chr19:6,982,473...6,987,651
JBrowse link
G Vip vasoactive intestinal polypeptide IMP RGD PMID:22140628 RGD:5685374 NCBI chr10:5,639,193...5,647,617
Ensembl chr10:5,639,218...5,647,617
JBrowse link
G Vwf Von Willebrand factor ISO RGD PMID:14507115 RGD:1580645 NCBI chr 6:125,552,948...125,686,679
Ensembl chr 6:125,546,774...125,686,679
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, 3 ISO ClinVar Annotator: match by term: Dursun syndrome ClinVar PMID:19011569, PMID:20799326, PMID:25741868 NCBI chr11:102,189,699...102,194,081
Ensembl chr11:102,189,620...102,194,081
JBrowse link
HUPRA Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sars2 seryl-aminoacyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME
ClinVar Annotator: match by OMIM:613845
OMIM
ClinVar
PMID:21255763, PMID:28492532 NCBI chr 7:28,741,957...28,753,879
Ensembl chr 7:28,741,992...28,753,871
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 synthetase 1 susceptibility ISO ClinVar Annotator: match by term: Pulmonary hypertension, neonatal, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:11407344, PMID:14718356, PMID:15465784, PMID:16708072, PMID:20154341, PMID:21767969 NCBI chr 1:67,122,426...67,231,267
Ensembl chr 1:67,123,026...67,231,259
JBrowse link
persistent fetal circulation syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1190005I06Rik RIKEN cDNA 1190005I06 gene ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 8:120,608,602...120,634,390
Ensembl chr 8:120,608,602...120,647,632
JBrowse link
G 6430548M08Rik RIKEN cDNA 6430548M08 gene ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 8:120,114,152...120,165,307
Ensembl chr 8:120,114,152...120,165,306
JBrowse link
G Adad2 adenosine deaminase domain containing 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 8:119,612,710...119,616,926
Ensembl chr 8:119,612,747...119,616,924
JBrowse link
G Atp2c2 ATPase, Ca++ transporting, type 2C, member 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 8:119,700,009...119,757,718
Ensembl chr 8:119,700,009...119,757,717
JBrowse link
G Cibar2 CBY1 interacting BAR domain containing 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 8:120,166,397...120,177,486
Ensembl chr 8:120,166,397...120,177,466
JBrowse link
G Cotl1 coactosin-like 1 (Dictyostelium) ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 8:119,809,214...119,840,579
Ensembl chr 8:119,809,222...119,840,544
JBrowse link
G Cox4i1 cytochrome c oxidase subunit 4I1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 8:120,668,225...120,674,209
Ensembl chr 8:120,668,222...120,674,207
JBrowse link
G Cps1 carbamoyl-phosphate synthetase 1 ISO CACD, OMIM:265380, DNA:polymorphism:T1405N
CTD Direct Evidence: marker/mechanism
CTD PMID:11407344, PMID:11407344 RGD:1600716 NCBI chr 1:67,122,426...67,231,267
Ensembl chr 1:67,123,026...67,231,259
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 8:119,992,438...120,052,794
Ensembl chr 8:119,992,438...120,052,793
JBrowse link
G Dnaaf1 dynein, axonemal assembly factor 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 8:119,575,235...119,598,454
Ensembl chr 8:119,575,235...119,598,454
JBrowse link
G Emc8 ER membrane protein complex subunit 8 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 8:120,653,914...120,668,087
Ensembl chr 8:120,653,914...120,668,573
JBrowse link
G Fendrr Foxf1 adjacent non-coding developmental regulatory RNA ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar PMID:25741868 NCBI chr 8:121,054,882...121,083,110
Ensembl chr 8:121,054,882...121,083,110
JBrowse link
G Foxf1 forkhead box F1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome
ClinVar Annotator: match by OMIM:265380
OMIM
ClinVar
PMID:15520767, PMID:19500772, PMID:23505205, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30380203 NCBI chr 8:121,084,386...121,088,154
Ensembl chr 8:121,084,386...121,088,144
JBrowse link
G Gins2 GINS complex subunit 2 (Psf2 homolog) ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 8:120,581,266...120,589,075
Ensembl chr 8:120,578,633...120,589,304
JBrowse link
G Gse1 genetic suppressor element 1, coiled-coil protein ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 8:120,228,501...120,581,383
Ensembl chr 8:120,228,456...120,581,390
JBrowse link
G Hsdl1 hydroxysteroid dehydrogenase like 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 8:119,561,978...119,575,214
Ensembl chr 8:119,561,989...119,575,183
JBrowse link
G Irf8 interferon regulatory factor 8 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 8:120,736,358...120,756,694
Ensembl chr 8:120,736,358...120,756,694
JBrowse link
G Kcng4 potassium voltage-gated channel, subfamily G, member 4 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 8:119,623,854...119,635,680
Ensembl chr 8:119,623,854...119,635,680
JBrowse link
G Klhl36 kelch-like 36 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 8:119,862,231...119,876,989
Ensembl chr 8:119,862,266...119,876,995
JBrowse link
G Mbtps1 membrane-bound transcription factor peptidase, site 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 8:119,508,151...119,558,864
Ensembl chr 8:119,508,156...119,558,735
JBrowse link
G Meak7 MTOR associated protein , eak-7 homolog ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 8:119,760,063...119,778,439
Ensembl chr 8:119,760,076...119,778,416
JBrowse link
G Mlycd malonyl-CoA decarboxylase ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 8:119,394,852...119,421,838
Ensembl chr 8:119,394,878...119,411,102
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 8:119,446,719...119,472,640
Ensembl chr 8:119,446,719...119,472,640
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell IEA OMIM:265380 MouseDO NCBI chr 5:24,364,816...24,384,474
Ensembl chr 5:24,364,810...24,384,474
JBrowse link
G Osgin1 oxidative stress induced growth inhibitor 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 8:119,425,882...119,446,257
Ensembl chr 8:119,434,124...119,446,256
JBrowse link
G Pten phosphatase and tensin homolog IEA OMIM:265380 MouseDO NCBI chr19:32,757,577...32,826,160
Ensembl chr19:32,757,497...32,826,160
JBrowse link
G Slc38a8 solute carrier family 38, member 8 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 8:119,479,574...119,501,698
Ensembl chr 8:119,479,602...119,501,698
JBrowse link
G Stra6 stimulated by retinoic acid gene 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17273977 NCBI chr 9:58,063,793...58,154,004
Ensembl chr 9:58,063,788...58,153,996
JBrowse link
G Taf1c TATA-box binding protein associated factor, RNA polymerase I, C ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 8:119,597,974...119,605,206
Ensembl chr 8:119,597,871...119,605,222
JBrowse link
G Usp10 ubiquitin specific peptidase 10 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 8:119,910,360...119,957,560
Ensembl chr 8:119,910,360...119,957,560
JBrowse link
G Wfdc1 WAP four-disulfide core domain 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 8:119,666,365...119,688,020
Ensembl chr 8:119,666,365...119,688,222
JBrowse link
G Zdhhc7 zinc finger, DHHC domain containing 7 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 8:120,081,091...120,103,900
Ensembl chr 8:120,080,890...120,101,482
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, type II-like 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 chr15:101,128,522...101,145,336
Ensembl chr15:101,128,522...101,145,336
JBrowse link
G Adora2a adenosine A2a receptor IEA OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 MouseDO NCBI chr10:75,316,877...75,334,792
Ensembl chr10:75,316,877...75,334,784
JBrowse link
G Bmpr2 bone morphogenetic protein receptor, type II (serine/threonine kinase) ISO
IEA
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 Annotator: match by term: Idiopathic and/or familial pulmonary arterial hypertension
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
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 chr 1:59,764,279...59,878,081
Ensembl chr 1:59,763,400...59,879,014
JBrowse link
G Cav1 caveolin 1, caveolae protein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:17,306,335...17,341,328
Ensembl chr 6:17,306,335...17,341,452
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 2:32,646,595...32,682,669
Ensembl chr 2:32,646,595...32,682,669
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 8:121,084,386...121,088,154
Ensembl chr 8:121,084,386...121,088,144
JBrowse link
G Gm26287 predicted gene, 26287 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:23579436, PMID:26387786 NCBI chr 1:59,704,258...59,704,338
Ensembl chr 1:59,704,258...59,704,338
JBrowse link
G Hdac1 histone deacetylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22711276 NCBI chr 4:129,516,104...129,542,646
Ensembl chr 4:129,516,104...129,542,713
JBrowse link
G Hdac4 histone deacetylase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22711276 NCBI chr 1:91,928,779...92,195,702
Ensembl chr 1:91,928,779...92,195,699
JBrowse link
G Hdac5 histone deacetylase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22711276 NCBI chr11:102,195,747...102,230,172
Ensembl chr11:102,194,432...102,230,166
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 chr 2:152,736,251...152,737,410
Ensembl chr 2:152,736,251...152,737,410
JBrowse link
G Kcna5 potassium voltage-gated channel, shaker-related subfamily, 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 chr 6:126,532,551...126,535,555
Ensembl chr 6:126,532,551...126,535,412
JBrowse link
G Kcnk3 potassium channel, subfamily K, member 3 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:23883380 NCBI chr 5:30,588,170...30,625,270
Ensembl chr 5:30,588,170...30,625,271
JBrowse link
G Nop58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:23579436, PMID:26387786 NCBI chr 1:59,684,961...59,711,510
Ensembl chr 1:59,684,971...59,719,044
JBrowse link
G Pparg peroxisome proliferator activated receptor gamma IEA OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 MouseDO NCBI chr 6:115,360,879...115,490,404
Ensembl chr 6:115,360,951...115,490,399
JBrowse link
G Smad1 SMAD family member 1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:21898662, PMID:26387786 NCBI chr 8:79,338,395...79,399,428
Ensembl chr 8:79,338,395...79,399,518
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 chr18:73,634,790...73,703,791
Ensembl chr18:73,639,009...73,703,780
JBrowse link
G Smad9 SMAD family member 9 ISO
IEA
ClinVar Annotator: match by term: Primary pulmonary hypertension
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
NCBI chr 3:54,755,455...54,801,662
Ensembl chr 3:54,755,582...54,801,257
JBrowse link
G Snord11 small nucleolar RNA, C/D box 11 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:23579436, PMID:26387786 NCBI chr 1:59,704,808...59,704,870
Ensembl chr 1:59,704,790...59,704,873
JBrowse link
G Snord70 small nucleolar RNA, C/D box 70 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:23579436, PMID:26387786 NCBI chr 1:59,691,958...59,692,010
Ensembl chr 1:59,691,934...59,692,020
JBrowse link
G Tbx4 T-box 4 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:25741868, PMID:31151956 NCBI chr11:85,886,367...85,916,097
Ensembl chr11:85,886,422...85,916,097
JBrowse link
G Tnfsf4 tumor necrosis factor (ligand) superfamily, member 4 IEA OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 MouseDO NCBI chr 1:161,395,438...161,418,206
Ensembl chr 1:161,395,409...161,418,410
JBrowse link
G Vip vasoactive intestinal polypeptide IEA OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 MouseDO NCBI chr10:5,639,193...5,647,617
Ensembl chr10:5,639,218...5,647,617
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 II (serine/threonine kinase) ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia ClinVar
OMIM
PMID:18792970, PMID:21801371, PMID:23298310, PMID:26387786 NCBI chr 1:59,764,279...59,878,081
Ensembl chr 1:59,763,400...59,879,014
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: Primary pulmonary hypertension 2
ClinVar Annotator: match by OMIM:615342
OMIM
ClinVar
PMID:19211612, PMID:21898662, PMID:21920918, PMID:24033266, PMID:28492532 NCBI chr 3:54,755,455...54,801,662
Ensembl chr 3:54,755,582...54,801,257
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 chr 3:141,837,135...142,169,585
Ensembl chr 3:141,837,136...142,169,425
JBrowse link
G Cav1 caveolin 1, caveolae protein ISO ClinVar Annotator: match by term: Primary pulmonary hypertension 3
ClinVar Annotator: match by OMIM:615343
OMIM
ClinVar
PMID:22474227, PMID:25741868, PMID:26387786, PMID:28492532, PMID:29231014 NCBI chr 6:17,306,335...17,341,328
Ensembl chr 6:17,306,335...17,341,452
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 channel, subfamily K, member 3 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension 4
ClinVar Annotator: match by OMIM:615344
OMIM
ClinVar
PMID:23883380, PMID:25741868, PMID:26387786, PMID:28492532 NCBI chr 5:30,588,170...30,625,270
Ensembl chr 5:30,588,170...30,625,271
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, sub-family A (ABC1), 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 chr17:24,351,921...24,410,204
Ensembl chr17:24,351,950...24,410,201
JBrowse link
G Abi2 abl-interactor 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:60,405,768...60,481,945
Ensembl chr 1:60,409,619...60,481,158
JBrowse link
G Acvrl1 activin A receptor, type II-like 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 chr15:101,128,522...101,145,336
Ensembl chr15:101,128,522...101,145,336
JBrowse link
G Als2 alsin Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:59,162,756...59,237,231
Ensembl chr 1:59,162,926...59,237,231
JBrowse link
G Aox1 aldehyde oxidase 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:58,029,809...58,106,410
Ensembl chr 1:58,029,931...58,106,413
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 chr14:34,411,061...34,503,336
Ensembl chr14:34,410,734...34,503,341
JBrowse link
G Bmpr1b bone morphogenetic protein receptor, type 1B ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease ClinVar PMID:25741868, PMID:30029678 NCBI chr 3:141,837,135...142,169,585
Ensembl chr 3:141,837,136...142,169,425
JBrowse link
G Bmpr2 bone morphogenetic protein receptor, type II (serine/threonine kinase) ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
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 chr 1:59,764,279...59,878,081
Ensembl chr 1:59,763,400...59,879,014
JBrowse link
G Bzw1 basic leucine zipper and W2 domains 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:58,392,898...58,407,354
Ensembl chr 1:58,392,898...58,407,353
JBrowse link
G C2cd6 C2 calcium dependent domain containing 6 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:58,997,116...59,095,023
Ensembl chr 1:58,997,116...59,094,900
JBrowse link
G Carf calcium response factor ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:60,098,221...60,153,953
Ensembl chr 1:60,098,247...60,153,953
JBrowse link
G Casp8 caspase 8 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:58,795,233...58,847,503
Ensembl chr 1:58,795,374...58,847,503
JBrowse link
G Cav1 caveolin 1, caveolae protein ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease ClinVar PMID:25741868, PMID:30029678 NCBI chr 6:17,306,335...17,341,328
Ensembl chr 6:17,306,335...17,341,452
JBrowse link
G Cd28 CD28 antigen ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:60,746,388...60,773,359
Ensembl chr 1:60,716,800...60,773,359
JBrowse link
G Cdk15 cyclin-dependent kinase 15 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:59,256,861...59,352,497
Ensembl chr 1:59,256,906...59,352,993
JBrowse link
G Cflar CASP8 and FADD-like apoptosis regulator ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:58,711,311...58,758,884
Ensembl chr 1:58,711,508...58,758,884
JBrowse link
G Clk1 CDC-like kinase 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:58,411,988...58,424,088
Ensembl chr 1:58,410,189...58,424,066
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:60,909,025...60,915,832
Ensembl chr 1:60,887,000...60,915,832
JBrowse link
G Cyp20a1 cytochrome P450, family 20, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:60,343,300...60,388,060
Ensembl chr 1:60,343,323...60,388,060
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 chr15:28,154,854...28,472,045
Ensembl chr15:28,203,752...28,472,052
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 9:6,928,550...7,178,306
Ensembl chr 9:6,928,503...7,184,446
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 chr 2:118,388,583...118,475,234
Ensembl chr 2:118,388,618...118,475,234
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 2:32,646,595...32,682,669
Ensembl chr 2:32,646,595...32,682,669
JBrowse link
G Fam117b family with sequence similarity 117, member B ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:59,913,006...59,985,348
Ensembl chr 1:59,913,006...59,985,346
JBrowse link
G Fam126b family with sequence similarity 126, member B ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:58,522,806...58,586,333
Ensembl chr 1:58,522,806...58,586,323
JBrowse link
G Flacc1 flagellum associated containing coiled-coil domains 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:58,656,926...58,696,008
Ensembl chr 1:58,646,903...58,695,989
JBrowse link
G Fzd7 frizzled class receptor 7 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:59,482,147...59,486,955
Ensembl chr 1:59,482,424...59,486,955
JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr14:57,098,602...57,104,702
Ensembl chr14:57,098,600...57,104,702
JBrowse link
G Hydin HYDIN, axonemal central pair apparatus protein ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr 8:110,266,968...110,610,253
Ensembl chr 8:110,266,977...110,610,253
JBrowse link
G Ica1l islet cell autoantigen 1-like ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:59,985,796...60,043,481
Ensembl chr 1:59,982,490...60,043,184
JBrowse link
G Icos inducible T cell co-stimulator ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:60,960,773...61,000,322
Ensembl chr 1:60,977,927...61,000,320
JBrowse link
G Kcnk3 potassium channel, subfamily K, member 3 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 5:30,588,170...30,625,270
Ensembl chr 5:30,588,170...30,625,271
JBrowse link
G Kctd18 potassium channel tetramerisation domain containing 18 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:57,955,101...57,970,141
Ensembl chr 1:57,955,101...58,018,956
JBrowse link
G Mpp4 membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:59,120,935...59,163,389
Ensembl chr 1:59,120,935...59,163,389
JBrowse link
G Nbeal1 neurobeachin like 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:60,178,740...60,338,328
Ensembl chr 1:60,180,599...60,338,328
JBrowse link
G Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:58,586,397...58,595,964
Ensembl chr 1:58,586,384...58,595,964
JBrowse link
G Nif3l1 Ngg1 interacting factor 3-like 1 (S. pombe) ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:58,445,151...58,462,276
Ensembl chr 1:58,445,151...58,481,816
JBrowse link
G Nop58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:59,684,961...59,711,510
Ensembl chr 1:59,684,971...59,719,044
JBrowse link
G Orc2 origin recognition complex, subunit 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:58,462,771...58,505,113
Ensembl chr 1:58,462,771...58,505,109
JBrowse link
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr  X:52,912,214...52,956,961
Ensembl chr  X:52,912,266...52,956,943
JBrowse link
G Pms2 PMS1 homolog2, 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 5:143,909,901...143,972,745
Ensembl chr 5:143,909,964...143,933,968
JBrowse link
G Ppil3 peptidylprolyl isomerase (cyclophilin)-like 3 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:58,430,993...58,445,591
Ensembl chr 1:58,430,994...58,445,486
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 chr 1:60,471,180...60,567,074
Ensembl chr 1:60,482,292...60,567,104
JBrowse link
G Sgo2a shugoshin 2A ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:57,985,340...58,026,277
Ensembl chr 1:57,995,971...58,025,899
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 chr 3:54,755,455...54,801,662
Ensembl chr 3:54,755,582...54,801,257
JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO protein:decreased expression:pulmonary artery
protein:decreased expression:small pulmonary artery
RGD PMID:20529999, PMID:20529999 RGD:27095884, RGD:27095884 NCBI chr17:13,007,839...13,018,119
Ensembl chr17:13,006,846...13,040,063
JBrowse link
G Spats2l spermatogenesis associated, serine-rich 2-like ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:57,774,102...57,948,398
Ensembl chr 1:57,774,162...57,948,394
JBrowse link
G Stradb STE20-related kinase adaptor beta ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:58,973,522...58,995,122
Ensembl chr 1:58,973,522...58,995,715
JBrowse link
G Sumo1 small ubiquitin-like modifier 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:59,639,434...59,670,834
Ensembl chr 1:59,586,558...59,670,834
JBrowse link
G Tbx4 T-box 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease ClinVar PMID:25741868, PMID:30029678, PMID:32581362 NCBI chr11:85,886,367...85,916,097
Ensembl chr11:85,886,422...85,916,097
JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:59,100,584...59,120,422
Ensembl chr 1:59,100,590...59,120,408
JBrowse link
G Trak2 trafficking protein, kinesin binding 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:58,900,449...58,974,345
Ensembl chr 1:58,900,449...58,973,430
JBrowse link
G Wdr12 WD repeat domain 12 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:60,071,361...60,098,500
Ensembl chr 1:60,069,785...60,098,645
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, type II-like 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 chr15:101,128,522...101,145,336
Ensembl chr15:101,128,522...101,145,336
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 2:32,646,595...32,682,669
Ensembl chr 2:32,646,595...32,682,669
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 chr16:16,312,228...16,359,038
Ensembl chr16:16,312,230...16,358,959
JBrowse link
G Fis1 fission, mitochondrial 1 ISO mRNA:increased expression:lung (rat) RGD PMID:23517027 RGD:12738217 NCBI chr 5:136,953,275...136,966,234
Ensembl chr 5:136,953,275...136,966,234
JBrowse link
G Gucy1a1 guanylate cyclase 1, soluble, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25373139 NCBI chr 3:82,092,427...82,145,946
Ensembl chr 3:82,092,427...82,145,789
JBrowse link
G Hmox1 heme oxygenase 1 ISO protein:increased expression:lung RGD PMID:21296072 RGD:10755745 NCBI chr 8:75,093,618...75,100,593
Ensembl chr 8:75,093,621...75,100,589
JBrowse link
G Mfn2 mitofusin 2 ISO mRNA:decreased expression:lung (rat) RGD PMID:23517027 RGD:12738217 NCBI chr 4:147,873,586...147,904,909
Ensembl chr 4:147,873,599...147,904,704
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 chr11:16,752,203...16,913,907
Ensembl chr11:16,752,203...16,918,158
JBrowse link
G Egln1 egl-9 family hypoxia-inducible factor 1 ISO RGD PMID:16761101 RGD:11252085 NCBI chr 8:124,908,587...124,949,254
Ensembl chr 8:124,908,587...124,949,324
JBrowse link
G Egln3 egl-9 family hypoxia-inducible factor 3 ISO RGD PMID:16761101 RGD:11252085 NCBI chr12:54,178,981...54,203,874
Ensembl chr12:54,178,981...54,203,860
JBrowse link
G G6pdx glucose-6-phosphate dehydrogenase X-linked treatment ISO RGD PMID:25063801 RGD:10449119 NCBI chr  X:74,409,483...74,428,880
Ensembl chr  X:74,409,483...74,429,194
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1, soluble ISO mRNA:decreased expression:lung (rat) RGD PMID:19823174 RGD:4145499 NCBI chr19:43,499,752...43,524,605
Ensembl chr19:43,499,752...43,524,605
JBrowse link
G Got2 glutamatic-oxaloacetic transaminase 2, mitochondrial ISO mRNA:decreased expression:lung (rat) RGD PMID:19823174 RGD:4145499 NCBI chr 8:95,864,133...95,888,401
Ensembl chr 8:95,864,134...95,888,547
JBrowse link
G Hpgd hydroxyprostaglandin dehydrogenase 15 (NAD) ISO mRNA, protein:increased expression:lung RGD PMID:24657469 RGD:11667099 NCBI chr 8:56,294,552...56,321,046
Ensembl chr 8:56,294,585...56,321,043
JBrowse link
G Mfn2 mitofusin 2 ISO mRNA, protein:decreased expression:lung (rat) RGD PMID:26485208 RGD:12910856 NCBI chr 4:147,873,586...147,904,909
Ensembl chr 4:147,873,599...147,904,704
JBrowse link
G Nog noggin ISO mRNA,protein:decreased expression:lung: RGD PMID:25740156 RGD:12801489 NCBI chr11:89,300,638...89,302,559
Ensembl chr11:89,300,638...89,302,332
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell ISO mRNA,protein:increased expression:pulmonary artery RGD PMID:9950873 RGD:11533933 NCBI chr 5:24,364,816...24,384,474
Ensembl chr 5:24,364,810...24,384,474
JBrowse link
G Slc39a12 solute carrier family 39 (zinc transporter), member 12 ISO RGD PMID:26258299 RGD:10401832 NCBI chr 2:14,388,316...14,494,977
Ensembl chr 2:14,388,316...14,494,977
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 chr15:80,255,184...80,257,545
Ensembl chr15:80,255,184...80,257,541
JBrowse link
G Bmpr2 bone morphogenetic protein receptor, type II (serine/threonine kinase) ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:59,764,279...59,878,081
Ensembl chr 1:59,763,400...59,879,014
JBrowse link
G Ddit3 DNA-damage inducible transcript 3 ISO protein:increased expression:lung, endothelial cell RGD PMID:32209028, PMID:32209028 RGD:38549370, RGD:38549370 NCBI chr10:127,290,793...127,296,291
Ensembl chr10:127,290,774...127,296,288
Ensembl chr10:127,290,774...127,296,288
JBrowse link
G Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 ISO protein:increased expression:lung RGD PMID:32209028 RGD:38549370 NCBI chr17:78,850,504...78,882,572
Ensembl chr17:78,852,564...78,882,573
JBrowse link
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO protein:increased expression:lung RGD PMID:32209028 RGD:38549370 NCBI chr 6:70,844,484...70,905,241
Ensembl chr 6:70,844,515...70,905,245
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 PMID:24292273, PMID:32209028, PMID:32209028 RGD:38549370, RGD:38549370 NCBI chr 2:118,388,583...118,475,234
Ensembl chr 2:118,388,618...118,475,234
JBrowse link
G Erg ETS transcription factor ISO protein:decreased expression:lung RGD PMID:32209028, PMID:32209028 RGD:38549370, RGD:38549370 NCBI chr16:95,359,169...95,586,600
Ensembl chr16:95,359,169...95,586,593
JBrowse link
G Hmox1 heme oxygenase 1 ISO protein:increased expression:lung, endothelial cell RGD PMID:32209028, PMID:32209028 RGD:38549370, RGD:38549370 NCBI chr 8:75,093,618...75,100,593
Ensembl chr 8:75,093,621...75,100,589
JBrowse link
G Kcnk3 potassium channel, subfamily K, member 3 ISO RGD PMID:32209028 RGD:38549370 NCBI chr 5:30,588,170...30,625,270
Ensembl chr 5:30,588,170...30,625,271
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 II (serine/threonine kinase) ISO ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1, autosomal dominant OMIM
ClinVar
PMID:11115378, PMID:12446270, PMID:16429395, PMID:16429403, PMID:18626305, PMID:20534176, PMID:26387786 NCBI chr 1:59,764,279...59,878,081
Ensembl chr 1:59,763,400...59,879,014
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 chr 2:118,388,583...118,475,234
Ensembl chr 2:118,388,618...118,475,234
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 ClinVar Annotator: match by term: Pulmonary venoocclusive disease 2, autosomal recessive
ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis
ClinVar Annotator: match by OMIM:234810
OMIM
ClinVar
PMID:24033266, PMID:24135949, PMID:24292273, PMID:25512148, PMID:26387786, PMID:32581362 NCBI chr 2:118,388,583...118,475,234
Ensembl chr 2:118,388,618...118,475,234
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13334
    disease of anatomical entity 12815
      respiratory system disease 2654
        lung disease 1640
          pulmonary hypertension 289
            Dursun Syndrome 1
            Familial Cirrhosis with Pulmonary Hypertension 0
            HUPRA Syndrome 1
            Pulmonary Arterial Hypertension + 53
            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 32
            primary pulmonary hypertension + 25
            pulmonary venoocclusive disease + 9
Path 2
Term Annotations click to browse term
  disease 13334
    disease of anatomical entity 12815
      cardiovascular system disease 3579
        vascular disease 2595
          artery disease 1692
            hypertension 856
              pulmonary hypertension 289
                Dursun Syndrome 1
                Familial Cirrhosis with Pulmonary Hypertension 0
                HUPRA Syndrome 1
                Pulmonary Arterial Hypertension + 53
                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 32
                primary pulmonary hypertension + 25
                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.