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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.


show annotations for term's descendants           Sort by:
 
pulmonary hypertension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca3 ATP binding cassette subfamily A member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26780485 NCBI chr10:13,723,365...13,780,558
Ensembl chr10:13,723,405...13,779,963
JBrowse link
G Ace angiotensin I converting enzyme ISO CTD Direct Evidence: marker/mechanism CTD PMID:12359135 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Ace2 angiotensin I converting enzyme 2 ISO CTD Direct Evidence: therapeutic CTD PMID:31931441 NCBI chr  X:32,050,734...32,095,860
Ensembl chr  X:32,049,931...32,096,016
JBrowse link
G Acvrl1 activin A receptor like type 1 susceptibility
disease_progression
ISO
IEP
associated with hereditary haemorrhagic telangiectasia;DNA:missense mutations
ClinVar Annotator: match by term: Pulmonary hypertension
CTD Direct Evidence: marker/mechanism
DNA:mutations (human)
mRNA:increased expression:lung
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:14684682, PMID:20056902, PMID:17392319 RGD:1601117, RGD:5128837, RGD:1601116 NCBI chr 7:142,769,942...142,787,336
Ensembl chr 7:142,776,252...142,787,335
JBrowse link
G Adh5 alcohol dehydrogenase 5 (class III), chi polypeptide ISO RGD PMID:20431245 RGD:5128886 NCBI chr 2:243,728,500...243,740,907
Ensembl chr 2:243,700,784...243,740,899
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO RGD PMID:19168697 RGD:5686821 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Adm adrenomedullin ISO RGD PMID:14718403 RGD:1625305 NCBI chr 1:175,443,189...175,447,260
Ensembl chr 1:175,445,088...175,447,259
JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO protein:increased expression:lung (human) RGD PMID:21041689 RGD:7244258 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Agt angiotensinogen IDA RGD PMID:21381494 RGD:5129162 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Agtr1a angiotensin II receptor, type 1a onset ISO DNA:polymorphism:3' utr:1166A>C (human) RGD PMID:19332265 RGD:5147450 NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
JBrowse link
G Alas1 5'-aminolevulinate synthase 1 IEP mRNA:increased expression:lung (rat) RGD PMID:16181105 RGD:4144185 NCBI chr 8:114,927,704...114,941,038
Ensembl chr 8:114,927,722...114,940,177
JBrowse link
G Alox5 arachidonate 5-lipoxygenase treatment ISO
IEP
IMP
IDA
protein:increased expression:artery
CTD Direct Evidence: marker/mechanism
CTD PMID:14726295, PMID:9445303, PMID:31462075, PMID:31462075, PMID:14726295, PMID:8647941 RGD:1626154, RGD:14975304, RGD:14975304, RGD:4890418, RGD:734558 NCBI chr 4:148,398,004...148,446,308
Ensembl chr 4:148,398,892...148,446,303
JBrowse link
G Alox5ap arachidonate 5-lipoxygenase activating protein ISO
IMP
protein:increased expression:artery RGD PMID:9445303, PMID:8647941 RGD:1626154, RGD:734558 NCBI chr12:6,854,930...6,879,112
Ensembl chr12:6,854,920...6,879,154
JBrowse link
G Angpt1 angiopoietin 1 IEP protein:decreased expression:pulmonary artery RGD PMID:18073453 RGD:2316069 NCBI chr 7:81,338,327...81,592,459
Ensembl chr 7:81,342,280...81,592,206
JBrowse link
G Angpt2 angiopoietin 2 IEP protein:increased expression:pulmonary artery (rat) RGD PMID:19712575 RGD:2314185 NCBI chr16:75,966,480...76,016,147
Ensembl chr16:75,966,352...76,016,195
JBrowse link
G Apln apelin ISO protein:decreased expression:plasma RGD PMID:16263185 RGD:1626175 NCBI chr  X:134,856,719...134,866,210
Ensembl chr  X:134,856,726...134,866,210
JBrowse link
G Arg2 arginase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24951775 NCBI chr 6:102,311,097...102,338,406
Ensembl chr 6:102,311,116...102,338,520
JBrowse link
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 treatment IEP
ISO
RGD PMID:27144451, PMID:23804254 RGD:13782086, RGD:13782089 NCBI chr12:39,553,903...39,603,326
Ensembl chr12:39,553,903...39,603,326
JBrowse link
G Atp5f1a ATP synthase F1 subunit alpha treatment IDA chronic thromboembolic pulmonary hypertension RGD PMID:21396162 RGD:13703061 NCBI chr18:74,156,553...74,164,490
Ensembl chr18:74,156,553...74,164,495
JBrowse link
G Atp5pf ATP synthase peripheral stalk subunit F6 treatment IEP
IMP
mRNA, protein:increased expression:lung, plasma (rat) RGD PMID:27916219, PMID:27491388 RGD:13800892, RGD:13800894 NCBI chr11:24,286,806...24,294,419
Ensembl chr11:24,286,787...24,294,179
JBrowse link
G Atp7a ATPase copper transporting alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614111 NCBI chr  X:77,076,085...77,193,644
Ensembl chr  X:77,076,106...77,193,644
JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP protein:decreased expression:heart right ventricle RGD PMID:18441466 RGD:2293022 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Bcl2l1 Bcl2-like 1 treatment IDA RGD PMID:22559233 RGD:10400914 NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
JBrowse link
G Bdkrb2 bradykinin receptor B2 IDA RGD PMID:15878794 RGD:4890453 NCBI chr 6:129,399,468...129,429,676
Ensembl chr 6:129,399,468...129,429,676
JBrowse link
G Birc5 baculoviral IAP repeat-containing 5 IMP
IEP
protein:increased expression:pulmonary artery RGD PMID:15931388, PMID:15931388 RGD:2293135, RGD:2293135 NCBI chr10:106,856,097...106,864,419
Ensembl chr10:106,856,097...106,864,413
JBrowse link
G Bmpr1a bone morphogenetic protein receptor type 1A ISO RGD PMID:19324947 RGD:5129472 NCBI chr16:10,758,278...10,852,170
Ensembl chr16:10,758,527...10,802,512
JBrowse link
G Bmpr1b bone morphogenetic protein receptor type 1B ISO RGD PMID:19324947 RGD:5129472 NCBI chr 2:247,392,195...247,662,026
Ensembl chr 2:247,403,920...247,446,882
JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 disease_progression ISO 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:20002458, PMID:19324947, PMID:19785764, PMID:20534176, PMID:18663089, PMID:15775752 RGD:5129238, RGD:5129472, RGD:5129239, RGD:5129237, RGD:5129474, RGD:1580076 NCBI chr 9:66,568,074...66,683,019
Ensembl chr 9:66,568,074...66,676,494
JBrowse link
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: therapeutic CTD PMID:26224795 NCBI chr 7:14,222,101...14,303,055
Ensembl chr 7:14,222,101...14,303,055
JBrowse link
G Ca9 carbonic anhydrase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20110409 NCBI chr 5:59,008,277...59,015,535
Ensembl chr 5:59,008,933...59,015,528
JBrowse link
G Calca calcitonin-related polypeptide alpha ISO CTD Direct Evidence: therapeutic CTD PMID:1357980 NCBI chr 1:184,184,018...184,188,922
Ensembl chr 1:184,184,020...184,188,911
JBrowse link
G Casr calcium-sensing receptor IEP protein:increased expression:pulmonary artery (rat) RGD PMID:22730443 RGD:7205669 NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
JBrowse link
G Cav1 caveolin 1 treatment ISO
IEP
idiopathic pulmonary arterial hypertension (IPAH) RGD PMID:17470567, PMID:23538027, PMID:15353500 RGD:1625360, RGD:8662276, RGD:1581153 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
JBrowse link
G Cavin1 caveolae associated protein 1 ISS OMIM:615371 MouseDO NCBI chr10:88,862,513...88,874,495
Ensembl chr10:88,860,733...88,874,528
JBrowse link
G Cbln2 cerebellin 2 precursor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23502781 NCBI chr18:83,775,568...83,783,841
Ensembl chr18:83,777,665...83,782,930
JBrowse link
G Ccl1 C-C motif chemokine ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22507635 NCBI chr10:69,534,976...69,537,836
Ensembl chr10:69,534,933...69,537,882
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP
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 chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased secretion:serum (human) RGD PMID:19932032 RGD:4891440 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Ccn2 cellular communication network factor 2 IEP protein:increased expression:pulmonary artery (rat) RGD PMID:19234054 RGD:2314535 NCBI chr 1:21,851,657...21,854,773
Ensembl chr 1:21,851,660...21,854,773
JBrowse link
G Cd209 CD209 molecule ISO RGD PMID:17107989 RGD:5131187 NCBI chr12:2,406,879...2,413,324
Ensembl chr12:2,406,879...2,413,324
JBrowse link
G Cd209c CD209c molecule ISO RGD PMID:17107989 RGD:5131187 NCBI chr12:2,837,991...2,846,709
Ensembl chr12:2,838,128...2,843,772
JBrowse link
G Cd28 Cd28 molecule ISO RGD PMID:19075187 RGD:5131619 NCBI chr 9:67,546,408...67,573,858
Ensembl chr 9:67,546,408...67,571,871
JBrowse link
G Cd40 CD40 molecule treatment IMP RGD PMID:25998782 RGD:11344970 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd40lg CD40 ligand IEP
ISO
protein:increased expression:serum (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:15302794, PMID:25998782 RGD:11344970 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cd86 CD86 molecule ISO protein:decreased expression:blood, myeloid dendritic cell (human) RGD PMID:19693657 RGD:4892293 NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A treatment ISO
IEP
RGD PMID:24334871, PMID:24412385 RGD:10043360, RGD:10043361 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B treatment IEP RGD PMID:22383500 RGD:10045357 NCBI chr 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964
JBrowse link
G Clu clusterin IEP RGD PMID:25069740 RGD:9068424 NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment IEP RGD PMID:25867313 RGD:11041577 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col4a1 collagen type IV alpha 1 chain treatment IEP RGD PMID:25867313 RGD:11041577 NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
JBrowse link
G Crp C-reactive protein ISO associated with Pulmonary Disease, Chronic Obstructive RGD PMID:22333502 RGD:6482312 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Csf3 colony stimulating factor 3 treatment ISO RGD PMID:17186992, PMID:12524378 RGD:11039432, RGD:11039539 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO
IEP
protein:increased expression:lung
associated with Heart Defects, Congenital
mRNA, protein:increased expression:lung
RGD PMID:19948918, PMID:20869263, PMID:18630689 RGD:4891887, RGD:4891883, RGD:4891889 NCBI chr19:10,644,267...10,654,861
Ensembl chr19:10,644,244...10,653,800
JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 IEP
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 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 treatment IMP RGD PMID:21294880 RGD:6480473 NCBI chr13:45,314,952...45,318,856
Ensembl chr13:45,314,933...45,318,878
JBrowse link
G Cyba cytochrome b-245 alpha chain IDA
ISO
associated with Anoxia;mRNA, protein:increased expression:lung RGD PMID:18424632, PMID:18952568 RGD:4773907, RGD:4762683 NCBI chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876
JBrowse link
G Cybb cytochrome b-245 beta chain treatment ISO
IEP
associated with Anoxia RGD PMID:18952568, PMID:18424632 RGD:4762683, RGD:4773907 NCBI chr  X:14,578,330...14,610,049
Ensembl chr  X:14,578,264...14,612,547
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 IEP mRNA,protein:increased expression:lung RGD PMID:28956952 RGD:13702097 NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
JBrowse link
G Cyp2j4 cytochrome P450, family 2, subfamily j, polypeptide 4 ISO RGD PMID:20118222 RGD:7243137 NCBI chr 5:119,546,458...119,564,843
Ensembl chr 5:119,546,461...119,564,846
JBrowse link
G Cysltr1 cysteinyl leukotriene receptor 1 IMP associated with Anoxia RGD PMID:12910720 RGD:4848274 NCBI chr  X:77,671,028...77,700,491
Ensembl chr  X:77,674,150...77,700,269
JBrowse link
G Ece1 endothelin converting enzyme 1 IMP associated with Anoxia; RGD PMID:18767389 RGD:7243939 NCBI chr 5:156,215,469...156,318,652
Ensembl chr 5:156,215,417...156,318,671
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 chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Edn2 endothelin 2 ISO RGD PMID:10598486 RGD:1580918 NCBI chr 5:139,098,472...139,106,396
Ensembl chr 5:139,100,898...139,105,792
JBrowse link
G Ednra endothelin receptor type A IMP
IDA
ISO
RGD PMID:20531217, PMID:15243299, PMID:20562228, PMID:18506008 RGD:4892283, RGD:1580949, RGD:4144877, RGD:4892320 NCBI chr19:33,928,356...33,991,703
Ensembl chr19:33,928,356...33,991,703
JBrowse link
G Ednrb endothelin receptor type B IMP
ISO
IDA
CTD Direct Evidence: marker/mechanism CTD PMID:15927975, PMID:18091567, PMID:15243299, PMID:20562228 RGD:4892289, RGD:1580949, RGD:4144877 NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
JBrowse link
G Egfr epidermal growth factor receptor ISO protein:increased expression:lung, arteriole (human) RGD PMID:12896876, PMID:21492463 RGD:5131639, RGD:5131626 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Egr1 early growth response 1 ISO
IEP
protein:increased expression:lung (human)
mRNA, protein:increased expression:lung (rat)
mRNA, protein:increased expression:lung (mouse)
RGD PMID:20889906, PMID:21924231, PMID:20889906, PMID:20023177, PMID:18599502 RGD:5131875, RGD:10395308, RGD:5131875, RGD:5131883, RGD:5131890 NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
JBrowse link
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24292273 NCBI chr 3:110,159,624...110,245,382
Ensembl chr 3:110,159,708...110,249,217
JBrowse link
G Eng endoglin ISO RGD PMID:20042709 RGD:11041178 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
JBrowse link
G Epas1 endothelial PAS domain protein 1 IEP
ISO
DNA:missense mutation:cds: 2097G>A,p.G537R(human) RGD PMID:16215633, PMID:18650473 RGD:10395375, RGD:11041573 NCBI chr 6:10,306,508...10,385,239
Ensembl chr 6:10,306,405...10,387,265
JBrowse link
G Ephx2 epoxide hydrolase 2 IMP RGD PMID:19226702 RGD:5688731 NCBI chr15:42,757,241...42,794,211
Ensembl chr15:42,757,235...42,794,279
JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:22559233 RGD:10400914 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G Esr1 estrogen receptor 1 ISO RGD PMID:20081107 RGD:4892253 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
G Esr2 estrogen receptor 2 IDA RGD PMID:21700911 RGD:5508791 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
G F5 coagulation factor V ISO Chronic thromboembolic pulmonary hypertension (CTEPH) RGD PMID:20182352 RGD:4892669 NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
JBrowse link
G Fbln5 fibulin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12189163 NCBI chr 6:125,644,797...125,723,957
Ensembl chr 6:125,644,804...125,723,944
JBrowse link
G Fgf2 fibroblast growth factor 2 IMP
ISO
mRNA:increased expression:lung RGD PMID:19197140, PMID:19197140 RGD:2315911, RGD:2315911 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 IMP RGD PMID:19197140 RGD:2315911 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Foxo1 forkhead box O1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr 2:141,451,234...141,527,016
Ensembl chr 2:141,451,234...141,527,016
JBrowse link
G Gata4 GATA binding protein 4 IEP protein:increased expression:heart right ventricle RGD PMID:21059997 RGD:7207053 NCBI chr15:46,386,703...46,458,679
Ensembl chr15:46,386,712...46,432,965
JBrowse link
G Gata6 GATA binding protein 6 IEP
ISO
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 chr18:2,415,821...2,447,087
Ensembl chr18:2,416,552...2,446,338
JBrowse link
G Gba glucosylceramidase beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:12359135 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
G Gdf2 growth differentiation factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26801773 NCBI chr16:10,267,510...10,293,545
Ensembl chr16:10,267,482...10,273,239
JBrowse link
G Gja1 gap junction protein, alpha 1 treatment IEP mRNA:increased expression:pulmonary artery RGD PMID:21414209, PMID:23321332 RGD:7207411, RGD:8662411 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
G Gpr182 G protein-coupled receptor 182 IEP mRNA:increased expression:lung RGD PMID:12622928 RGD:1625768 NCBI chr 7:71,044,786...71,048,713
Ensembl chr 7:71,045,543...71,048,383
JBrowse link
G Has1 hyaluronan synthase 1 IEP RGD PMID:19915162 RGD:9588633 NCBI chr 1:59,720,612...59,732,409
Ensembl chr 1:59,720,612...59,732,409
JBrowse link
G Has2 hyaluronan synthase 2 IEP mRNA:increased expression:lung RGD PMID:19915162 RGD:9588633 NCBI chr 7:96,438,046...96,464,049
Ensembl chr 7:96,438,046...96,464,049
JBrowse link
G Has3 hyaluronan synthase 3 IEP mRNA:decreased expression:lung RGD PMID:19915162 RGD:9588633 NCBI chr19:39,063,298...39,077,745
Ensembl chr19:39,063,998...39,077,722
JBrowse link
G Hdac1 histone deacetylase 1 ISO
IEP
protein:increased expression:lung: RGD PMID:22711276, PMID:22711276 RGD:9590133, RGD:9590133 NCBI chr 5:147,716,664...147,743,723
Ensembl chr 5:147,716,664...147,743,723
JBrowse link
G Hdac2 histone deacetylase 2 ISO protein:decreased expression:lung: RGD PMID:22711276 RGD:9590133 NCBI chr20:43,084,870...43,108,198
Ensembl chr20:43,084,870...43,108,198
JBrowse link
G Hdac3 histone deacetylase 3 ISO protein:decreased expression:lung: RGD PMID:22711276 RGD:9590133 NCBI chr18:31,073,057...31,094,347
Ensembl chr18:31,073,058...31,094,303
JBrowse link
G Hdac4 histone deacetylase 4 ISO protein:increased expression:lung: RGD PMID:22711276 RGD:9590133 NCBI chr 9:99,052,945...99,299,715
Ensembl chr 9:99,057,089...99,299,715
JBrowse link
G Hdac5 histone deacetylase 5 ISO
IEP
protein:increased expression:lung: RGD PMID:22711276, PMID:22711276 RGD:9590133, RGD:9590133 NCBI chr10:90,140,183...90,169,853
Ensembl chr10:90,140,183...90,151,042
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha IEP
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 chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Hif3a hypoxia inducible factor 3 subunit alpha IEP RGD PMID:16215633 RGD:10395375 NCBI chr 1:78,976,318...78,997,869
Ensembl chr 1:78,976,318...78,997,869
JBrowse link
G Hk1 hexokinase 1 IEP mRNA:increased expression:lung RGD PMID:25767292 RGD:11353880 NCBI chr20:31,911,460...31,979,780
Ensembl chr20:31,912,262...31,956,649
JBrowse link
G Hmgb1 high mobility group box 1 treatment IMP RGD PMID:25032709 RGD:10402082 NCBI chr12:7,082,529...7,090,246
Ensembl chr16:37,500,017...37,502,237
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase IMP RGD PMID:12750068 RGD:5508701 NCBI chr 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654
JBrowse link
G Hmox1 heme oxygenase 1 IEP
ISO
IDA
RGD PMID:14970910, PMID:20957739, PMID:19409105 RGD:1582715, RGD:4145325, RGD:4145307 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
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 chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Hpgd 15-hydroxyprostaglandin dehydrogenase ISO mRNA, protein:increased expression:lung RGD PMID:24657469 RGD:11667099 NCBI chr16:37,457,134...37,495,758
Ensembl chr16:37,457,135...37,495,758
JBrowse link
G Htr2b 5-hydroxytryptamine receptor 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:14659797 NCBI chr 9:93,112,781...93,130,135
Ensembl chr 9:93,112,805...93,125,014
JBrowse link
G Hyal1 hyaluronidase 1 IEP mRNA:decreased expression:lung RGD PMID:19915162 RGD:9588633 NCBI chr 8:116,332,834...116,337,522
Ensembl chr 8:116,332,796...116,335,435
JBrowse link
G Hyal2 hyaluronidase 2 IEP mRNA:decreased expression:lung RGD PMID:19915162 RGD:9588633 NCBI chr 8:116,324,062...116,328,978
Ensembl chr 8:116,324,040...116,328,978
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 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Id1 inhibitor of DNA binding 1, HLH protein IDA RGD PMID:20522807 RGD:9686087 NCBI chr 3:148,214,623...148,216,715
Ensembl chr 3:148,215,540...148,216,718
JBrowse link
G Ifngr1 interferon gamma receptor 1 ISO mRNA: increased expression RGD PMID:20808962 RGD:4892610 NCBI chr 1:15,062,380...15,080,815
Ensembl chr 1:15,062,432...15,080,907
JBrowse link
G Il10 interleukin 10 disease_progression ISO protein:increased expression:serum RGD PMID:20713898 RGD:4142530 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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 chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Il13ra1 interleukin 13 receptor subunit alpha 1 ISO RGD PMID:20671265, PMID:20808962 RGD:4892611, RGD:4892610 NCBI chr  X:122,724,081...122,783,801
Ensembl chr  X:122,724,129...122,781,479
JBrowse link
G Il13ra2 interleukin 13 receptor subunit alpha 2 ISO mRNA:increased expression:lung RGD PMID:20522789 RGD:4892612 NCBI chr  X:118,443,955...118,514,716
Ensembl chr  X:118,443,823...118,513,061
JBrowse link
G Il18 interleukin 18 ISO RGD PMID:17400729 RGD:4889590 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:serum
associated with Scleroderma, Limited;protein:increased expression:serum
RGD PMID:20713898, PMID:20808962 RGD:4142530, RGD:4892610 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO RGD PMID:7946395 RGD:4143197 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il23r interleukin 23 receptor ISO associated with Scleroderma, Systemic;DNA:SNPs: :rs11209026, rs11465804 (human) RGD PMID:19918037 RGD:5096624 NCBI chr 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173
JBrowse link
G Il4 interleukin 4 ISO RGD PMID:20889544 RGD:5128515 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il6 interleukin 6 disease_progression ISO
IDA
RGD PMID:20713898, PMID:20693255 RGD:4142530, RGD:4143246 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Kcna5 potassium voltage-gated channel subfamily A member 5 ISO
IDA
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 4:159,077,195...159,079,003
Ensembl chr 4:159,077,195...159,079,003
JBrowse link
G Kcnk3 potassium two pore domain channel subfamily K member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30365877 NCBI chr 6:27,154,274...27,190,209
Ensembl chr 6:27,151,612...27,190,132
JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28090300 NCBI chr15:344,204...1,048,849
Ensembl chr15:344,360...1,047,956
JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30689673 NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
JBrowse link
G Lox lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614111 NCBI chr18:47,500,320...47,577,819
Ensembl chr18:47,500,330...47,577,819
JBrowse link
G Mapk1 mitogen activated protein kinase 1 treatment ISO RGD PMID:25907942 RGD:13800893 NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
JBrowse link
G Mapk3 mitogen activated protein kinase 3 treatment ISO RGD PMID:25907942 RGD:13800893 NCBI chr 1:198,192,773...198,198,975
Ensembl chr 1:198,192,773...198,198,975
JBrowse link
G Mfn1 mitofusin 1 IEP protein:decreased expression:heart right ventricle (rat) RGD PMID:27422986 RGD:12910832 NCBI chr 2:118,929,738...118,971,689
Ensembl chr 2:118,929,738...118,973,698
JBrowse link
G Mif macrophage migration inhibitory factor ISO associated with sclerodema, systemic; protein:increased expression:serum RGD PMID:18618071 RGD:4891006 NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
JBrowse link
G Mir125a microRNA 125a treatment IDA RGD PMID:29700287 RGD:26884455 NCBI chr 1:59,704,827...59,704,911
Ensembl chr 1:59,704,827...59,704,911
JBrowse link
G Mir204 microRNA 204 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26224795 NCBI chr 1:240,403,000...240,403,109
Ensembl chr 1:240,403,000...240,403,109
JBrowse link
G Mir223 microRNA 223 treatment IEP
IDA
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:65,367,812...65,367,921
Ensembl chr  X:65,367,812...65,367,921
JBrowse link
G Mmp1 matrix metallopeptidase 1 IDA RGD PMID:23087098 RGD:7207217 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO
IDA
IEP
associated with Pulmonary Embolism;protein:increased expression:lung, plasma
associated with Heart Failure, Congestive;protein:decreased expression:monocyte
RGD PMID:21063214, PMID:23087098, PMID:18355767, PMID:17133179, PMID:16867026 RGD:5129210, RGD:7207217, RGD:5130155, RGD:1642053, RGD:1642028 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mtor mechanistic target of rapamycin kinase IMP RGD PMID:23470622 RGD:10041039 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor treatment IDA RGD PMID:22306243 RGD:7240564 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Nampt nicotinamide phosphoribosyltransferase susceptibility ISO
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 chr 6:52,122,085...52,156,473
Ensembl chr 6:52,122,085...52,156,472
JBrowse link
G Nfatc2 nuclear factor of activated T-cells 2 IMP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:27522126, PMID:17596340 RGD:1627651 NCBI chr 3:165,241,750...165,374,644
Ensembl chr 3:165,245,238...165,360,292
JBrowse link
G Nos2 nitric oxide synthase 2 onset ISO
IEP
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 chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Nos3 nitric oxide synthase 3 treatment
susceptibility
ISO
IDA
IEP
IMP
DNA:polymorphism:cds:p.E298D (human)
CTD Direct Evidence: marker/mechanism
associated with Beta-Thalassemia;DNA:repeats:intron:
RNA:increased expression:lung
mRNA, protein:increased expression:pulmonary endothelial cell
associated with heart disease; protein:increased expression:endothelial cell
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:11686901, PMID:20724942, PMID:19912632, PMID:21111729, PMID:19487814, PMID:20215577, PMID:17065228, PMID:18953956 RGD:4892009, RGD:13504742, RGD:11533642, RGD:5132631, RGD:4892004, RGD:5132602, RGD:4892010, RGD:4892039, RGD:4892038, RGD:4892043, RGD:4892042 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Nox4 NADPH oxidase 4 ISO associated with Anoxia;mRNA, protein:increased expression:lung RGD PMID:18952568 RGD:4762683 NCBI chr 1:150,796,359...150,976,186
Ensembl chr 1:150,797,084...150,976,194
JBrowse link
G Nppa natriuretic peptide A IDA RGD PMID:2136863 RGD:7247720 NCBI chr 5:164,808,407...164,809,716
Ensembl chr 5:164,808,323...164,809,705
JBrowse link
G Nppb natriuretic peptide B severity IEP
ISO
protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
CTD PMID:20408845, PMID:21351102, PMID:16936438, PMID:16893710 RGD:1642203, RGD:1642205 NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
JBrowse link
G Pde3a phosphodiesterase 3A IEP mRNA:increased expression:pulmonary artery RGD PMID:12466227 RGD:1582528 NCBI chr 4:175,431,904...175,703,844
Ensembl chr 4:175,431,904...175,700,238
JBrowse link
G Pde5a phosphodiesterase 5A IMP RGD PMID:19881228 RGD:2314460 NCBI chr 2:226,899,604...227,044,916
Ensembl chr 2:226,900,619...227,041,576
JBrowse link
G Pdgfa platelet derived growth factor subunit A IEP RGD PMID:8447423 RGD:1580847 NCBI chr12:17,734,141...17,756,186
Ensembl chr12:17,734,133...17,755,285
JBrowse link
G Pdgfb platelet derived growth factor subunit B IEP
ISO
RGD PMID:8447423, PMID:21819559, PMID:22523431 RGD:1580847, RGD:6482859, RGD:6482831 NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
JBrowse link
G Pdia3 protein disulfide isomerase family A, member 3 IEP protein:increased expression:lung: RGD PMID:23315792 RGD:9999167 NCBI chr 3:113,376,983...113,400,707
Ensembl chr 3:113,376,983...113,400,707
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 treatment IDA RGD PMID:22559233 RGD:10400914 NCBI chr10:94,850,971...94,913,202 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 chr 6:108,994,016...109,004,598
Ensembl chr 6:108,994,018...109,004,598
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 chr12:12,714,394...12,738,654
Ensembl chr12:12,714,394...12,738,641
JBrowse link
G Prkg1 protein kinase cGMP-dependent 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21351102 NCBI chr 1:248,982,039...250,300,952 JBrowse link
G Ptgis prostaglandin I2 synthase susceptibility IDA
IMP
rat gene in a mouse model RGD PMID:15684702, PMID:10359560 RGD:1580695, RGD:727270 NCBI chr 3:163,950,746...163,986,129 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP
ISO
anoxia associated; RGD PMID:18542928, PMID:19577709 RGD:2300276, RGD:5135495 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Ptk2 protein tyrosine kinase 2 ISO RGD PMID:16244766 RGD:1581290 NCBI chr 7:114,436,419...114,611,317
Ensembl chr 7:114,437,361...114,590,119
JBrowse link
G Ramp2 receptor activity modifying protein 2 IEP mRNA:increased expression:heart right ventricle RGD PMID:17437045 RGD:1642678 NCBI chr10:89,166,170...89,168,962
Ensembl chr10:89,166,890...89,168,965
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit IEP protein:altered localization:nucleus, blood vessel endothelial cell, lung RGD PMID:17934115 RGD:2298843 NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
JBrowse link
G Rhoa ras homolog family member A IEP protein:altered localization:membrane, artery, lung
protein:altered localization:pulmonary artery
RGD PMID:18091588, PMID:16322374 RGD:2298877, RGD:1642819 NCBI chr 8:117,082,440...117,116,244
Ensembl chr 8:117,106,576...117,116,167
JBrowse link
G Serpina1 serpin family A member 1 IDA
ISO
protein:decreased expression:serum RGD PMID:1836309, PMID:17444595 RGD:1643154, RGD:1643144 NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
JBrowse link
G Serpine1 serpin family E member 1 treatment ISO
IDA
mRNA, protein:decreased expression:lung
DNA:polymorphism:3'utr
RGD PMID:18337154, PMID:27115515, PMID:20300292 RGD:4143529, RGD:11073610, RGD:4143527 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Slc2a4 solute carrier family 2 member 4 IEP RGD PMID:19043358 RGD:2313622 NCBI chr10:56,552,921...56,558,562
Ensembl chr10:56,552,983...56,558,487
JBrowse link
G Slc31a1 solute carrier family 31 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614111 NCBI chr 5:78,222,504...78,249,358
Ensembl chr 5:78,222,504...78,249,358
JBrowse link
G Slc6a4 solute carrier family 6 member 4 onset
no_association
severity
ISO
IDA
IMP
DNA:repeat:promoter (human)
CTD Direct Evidence: marker/mechanism
associated with Heart Septal Defects, Ventricular;DNA:polymorphisms (human)
associated with Anoxia
DNA:polymorphism, repeat:promoter, intron (human)
associated with Pulmonary Disease, Chronic Obstructive;DNA:polymorphism (human)
CTD PMID:18506000, PMID:16339917, PMID:19886858, PMID:11259539, PMID:19736308, PMID:16399993, PMID:19556740, PMID:19736308, PMID:19473340, PMID:18074800 RGD:4889442, RGD:4889430, RGD:4889445, RGD:4889432, RGD:4889440, RGD:4889434, RGD:4889432, RGD:4889435, RGD:4889437 NCBI chr10:63,153,656...63,188,377
Ensembl chr10:63,153,651...63,176,463
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 chr 6:4,244,076...4,564,262
Ensembl chr 6:4,258,991...4,520,604
JBrowse link
G Smad1 SMAD family member 1 IEP
IDA
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 chr19:32,182,942...32,248,694
Ensembl chr19:32,188,267...32,248,684
JBrowse link
G Smad4 SMAD family member 4 IEP RGD PMID:17347486, PMID:18367643 RGD:1643222, RGD:12903274 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
G Smad6 SMAD family member 6 IEP mRNA:decreased expression:lung RGD PMID:17347486 RGD:1643222 NCBI chr 8:68,897,746...68,967,221
Ensembl chr 8:68,898,296...68,966,108
JBrowse link
G Smad7 SMAD family member 7 IEP RGD PMID:17347486 RGD:1643222 NCBI chr18:71,395,830...71,424,164
Ensembl chr18:71,395,830...71,424,157
JBrowse link
G Smad9 SMAD family member 9 IEP RGD PMID:17347486 RGD:1643222 NCBI chr 2:143,951,725...144,002,025
Ensembl chr 2:144,191,846...144,212,138
Ensembl chr 2:144,191,846...144,212,138
JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3 treatment IMP RGD PMID:19088082 RGD:10042965 NCBI chr19:38,237,963...38,321,572
Ensembl chr19:38,237,965...38,321,528
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20110409 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Tac1 tachykinin, precursor 1 IMP RGD PMID:12662901 RGD:5147638 NCBI chr 4:33,638,853...33,646,819
Ensembl chr 4:33,638,709...33,646,819
JBrowse link
G Tacr1 tachykinin receptor 1 IMP RGD PMID:12662901 RGD:5147638 NCBI chr 4:113,247,236...113,416,139
Ensembl chr 4:113,247,795...113,414,504
JBrowse link
G Tacr2 tachykinin receptor 2 IMP RGD PMID:12662901 RGD:5147638 NCBI chr20:31,892,515...31,905,153
Ensembl chr20:31,892,515...31,905,153
JBrowse link
G Tek TEK receptor tyrosine kinase ISO mRNA, protein:increased expression:lung RGD PMID:16917117 RGD:1601487 NCBI chr 5:113,725,717...113,852,799
Ensembl chr 5:113,725,717...113,852,799
JBrowse link
G Tert telomerase reverse transcriptase treatment IEP
ISO
RGD PMID:24376652, PMID:24376652 RGD:11038675, RGD:11038675 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
G Tgfa transforming growth factor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18424623 NCBI chr 4:117,961,877...118,045,923
Ensembl chr 4:117,962,319...118,046,344
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 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 IMP RGD PMID:18202349 RGD:2302019 NCBI chr 5:63,056,071...63,119,635
Ensembl chr 5:63,050,758...63,119,635
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 IEP mRNA:decreased expression:lung RGD PMID:17392319 RGD:1601116 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
JBrowse link
G Thbd thrombomodulin ISO associated with Mixed Connective Tissue Disease RGD PMID:16784493 RGD:1601639 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
G Thpo thrombopoietin ISO protein:increased expression:pulmonary artery, plasma RGD PMID:12487786 RGD:1580087 NCBI chr11:82,845,676...82,853,439
Ensembl chr11:83,868,655...83,873,910
Ensembl chr11:83,868,655...83,873,910
JBrowse link
G Tlr4 toll-like receptor 4 ISO associated anoxia RGD PMID:20205596 RGD:4144108 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tnc tenascin C severity ISO
IEP
IDA
protein:increased expression:plasma RGD PMID:20528622, PMID:19288153, PMID:15879421, PMID:16782755 RGD:4889562, RGD:4889564, RGD:4889570, RGD:4889567 NCBI chr 5:79,789,686...79,874,555
Ensembl chr 5:79,789,671...79,874,671
JBrowse link
G Tnf tumor necrosis factor ISO 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 chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tp53 tumor protein p53 treatment ISO RGD PMID:24334871 RGD:10043360 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Tp53bp1 tumor protein p53 binding protein 1 ISO protein:increased expression:lung RGD PMID:24270264 RGD:9586752 NCBI chr 3:113,160,030...113,259,701
Ensembl chr 3:113,160,000...113,231,790
JBrowse link
G Tph1 tryptophan hydroxylase 1 severity ISO CTD Direct Evidence: marker/mechanism CTD PMID:18506000, PMID:17675372 RGD:5686352 NCBI chr 1:102,669,868...102,699,442
Ensembl chr 1:102,669,868...102,699,442
JBrowse link
G Tph2 tryptophan hydroxylase 2 severity ISO DNA:SNP: :1473C>G (mouse) RGD PMID:17675372 RGD:5686352 NCBI chr 7:58,042,279...58,149,220
Ensembl chr 7:58,042,281...58,149,061
JBrowse link
G Trpc3 transient receptor potential cation channel, subfamily C, member 3 ISO RGD PMID:15358862 RGD:1580490 NCBI chr 2:123,329,954...123,467,574
Ensembl chr 2:123,329,875...123,407,496
JBrowse link
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 ISO RGD PMID:15358862 RGD:1580490 NCBI chr 8:6,811,543...6,917,534
Ensembl chr 8:6,811,543...6,917,535
JBrowse link
G Uts2 urotensin 2 IEP RGD PMID:15042392 RGD:2306848 NCBI chr 5:168,078,748...168,084,133
Ensembl chr 5:168,078,748...168,084,145
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 IEP protein:increased expression:blood vessel endothelium RGD PMID:17934115 RGD:2298843 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
JBrowse link
G Vegfb vascular endothelial growth factor B ISO RGD PMID:12547729 RGD:1625708 NCBI chr 1:222,237,000...222,242,786
Ensembl chr 1:222,239,022...222,242,644
JBrowse link
G Vip vasoactive intestinal peptide IDA RGD PMID:22140628 RGD:5685374 NCBI chr 1:42,169,307...42,177,582
Ensembl chr 1:42,169,501...42,177,582
JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:14507115 RGD:1580645 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
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 chr10:90,134,193...90,138,425
Ensembl chr10:90,134,193...90,138,425
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 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 1:86,923,769...86,935,506
Ensembl chr 1:86,923,591...86,935,904
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
ClinVar
CTD
OMIM
PMID:11407344, PMID:14718356, PMID:15465784, PMID:16708072, PMID:20154341, PMID:21767969 NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274
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 chr19:52,258,908...52,263,031
Ensembl chr19:52,258,947...52,262,959
JBrowse link
G Atp2c2 ATPase secretory pathway Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,347,480...52,404,608
Ensembl chr19:52,347,580...52,404,607
JBrowse link
G Cibar2 CBY1 interacting BAR domain containing 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:53,740,763...53,754,738
Ensembl chr19:53,743,383...53,754,602
JBrowse link
G Cotl1 coactosin-like F-actin binding protein 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,465,074...52,499,433
Ensembl chr19:52,465,087...52,499,433
JBrowse link
G Cox4i1 cytochrome c oxidase subunit 4i1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:54,245,958...54,252,198
Ensembl chr19:54,245,950...54,252,225
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO CACD, OMIM:265380, DNA:polymorphism:T1405N
CTD Direct Evidence: marker/mechanism
CTD PMID:11407344, PMID:11407344 RGD:1600716 NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274
JBrowse link
G Crispld2 cysteine-rich secretory protein LCCL domain containing 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,647,038...52,705,118
Ensembl chr19:52,647,070...52,705,131
JBrowse link
G Dnaaf1 dynein, axonemal, assembly factor 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,217,427...52,245,930
Ensembl chr19:52,217,984...52,245,929
JBrowse link
G Emc8 ER membrane protein complex subunit 8 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:54,235,949...54,245,810
Ensembl chr19:54,235,936...54,245,855
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 chr19:52,991,283...53,010,509 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 chr19:53,012,306...53,016,100
Ensembl chr19:53,012,332...53,016,086
JBrowse link
G Gins2 GINS complex subunit 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:54,151,048...54,163,701
Ensembl chr19:54,151,048...54,163,608
JBrowse link
G Gse1 Gse1 coiled-coil protein ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:53,799,945...54,153,732
Ensembl chr19:54,060,622...54,148,970
JBrowse link
G Hsdl1 hydroxysteroid dehydrogenase like 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,209,403...52,225,486
Ensembl chr19:52,210,859...52,217,728
JBrowse link
G Irf8 interferon regulatory factor 8 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:54,314,859...54,336,643
Ensembl chr19:54,314,865...54,336,640
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 chr19:52,270,907...52,283,317
Ensembl chr19:52,270,927...52,282,877
JBrowse link
G Klhl36 kelch-like family member 36 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,515,022...52,536,055
Ensembl chr19:52,515,022...52,536,476
JBrowse link
G Mbtps1 membrane-bound transcription factor peptidase, site 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,146,507...52,206,310
Ensembl chr19:52,146,808...52,206,310
JBrowse link
G Meak7 MTOR associated protein, eak-7 homolog ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,408,700...52,430,198
Ensembl chr19:52,408,917...52,424,318
JBrowse link
G Mlycd malonyl-CoA decarboxylase ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,032,950...52,048,773
Ensembl chr19:52,032,886...52,048,753
JBrowse link
G Necab2 N-terminal EF-hand calcium binding protein 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,086,325...52,112,633
Ensembl chr19:52,086,325...52,112,629
JBrowse link
G Nos3 nitric oxide synthase 3 ISS OMIM:265380 MouseDO NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Osgin1 oxidative stress induced growth inhibitor 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,056,808...52,085,491
Ensembl chr19:52,077,109...52,085,496
JBrowse link
G Pten phosphatase and tensin homolog ISS OMIM:265380 MouseDO NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G RGD1304884 similar to RIKEN cDNA 6430548M08 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,763,352...53,742,184
Ensembl chr19:53,723,822...53,740,329
JBrowse link
G RGD1309651 similar to 1190005I06Rik protein ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:54,184,554...54,210,872
Ensembl chr19:54,184,946...54,210,515
JBrowse link
G Slc38a8 solute carrier family 38, member 8 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,110,517...52,142,500
Ensembl chr19:52,119,992...52,139,633
JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17273977 NCBI chr 8:62,925,364...62,944,438
Ensembl chr 8:62,925,357...62,944,437
JBrowse link
G Taf1c TATA-box binding protein associated factor, RNA polymerase 1 subunit C ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,246,061...52,252,642
Ensembl chr19:52,246,068...52,252,587
JBrowse link
G Usp10 ubiquitin specific peptidase 10 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,566,274...52,608,820
Ensembl chr19:52,566,607...52,608,817
JBrowse link
G Wfdc1 WAP four-disulfide core domain 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,313,771...52,332,721
Ensembl chr19:52,313,795...52,332,697
JBrowse link
G Zdhhc7 zinc finger DHHC-type palmitoyltransferase 7 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,733,161...52,750,307
Ensembl chr19:52,733,161...52,750,307
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 chr 7:142,769,942...142,787,336
Ensembl chr 7:142,776,252...142,787,335
JBrowse link
G Adora2a adenosine A2a receptor ISS OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 MouseDO NCBI chr20:14,265,251...14,282,873
Ensembl chr20:14,265,252...14,282,873
JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 ISO 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
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia
CTD Direct Evidence: marker/mechanism
ClinVar
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 9:66,568,074...66,683,019
Ensembl chr 9:66,568,074...66,676,494
JBrowse link
G Cav1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
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 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
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 chr19:53,012,306...53,016,100
Ensembl chr19:53,012,332...53,016,086
JBrowse link
G Hdac1 histone deacetylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22711276 NCBI chr 5:147,716,664...147,743,723
Ensembl chr 5:147,716,664...147,743,723
JBrowse link
G Hdac4 histone deacetylase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22711276 NCBI chr 9:99,052,945...99,299,715
Ensembl chr 9:99,057,089...99,299,715
JBrowse link
G Hdac5 histone deacetylase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22711276 NCBI chr10:90,140,183...90,169,853
Ensembl chr10:90,140,183...90,151,042
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 3:148,214,623...148,216,715
Ensembl chr 3:148,215,540...148,216,718
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 chr 4:159,077,195...159,079,003
Ensembl chr 4:159,077,195...159,079,003
JBrowse link
G Kcnk3 potassium two pore domain 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 6:27,154,274...27,190,209
Ensembl chr 6:27,151,612...27,190,132
JBrowse link
G Nop58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:23579436, PMID:26387786 NCBI chr 9:66,495,881...66,520,521
Ensembl chr 9:66,495,832...66,519,788
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISS OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 MouseDO NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Smad1 SMAD family member 1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:21898662, PMID:26387786 NCBI chr19:32,182,942...32,248,694
Ensembl chr19:32,188,267...32,248,684
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 chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
G Smad9 SMAD family member 9 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 2:143,951,725...144,002,025
Ensembl chr 2:144,191,846...144,212,138
Ensembl chr 2:144,191,846...144,212,138
JBrowse link
G Tbx4 T-box transcription factor 4 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:25741868, PMID:31151956 NCBI chr10:73,331,864...73,362,784
Ensembl chr10:73,333,119...73,362,783
JBrowse link
G Tnfsf4 TNF superfamily member 4 ISS OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 MouseDO NCBI chr13:79,269,973...79,293,775
Ensembl chr13:79,269,973...79,293,778
JBrowse link
G Vip vasoactive intestinal peptide ISS OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 MouseDO NCBI chr 1:42,169,307...42,177,582
Ensembl chr 1:42,169,501...42,177,582
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 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 9:66,568,074...66,683,019
Ensembl chr 9:66,568,074...66,676,494
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 OMIM
ClinVar
PMID:19211612, PMID:21898662, PMID:21920918, PMID:24033266, PMID:28492532 NCBI chr 2:143,951,725...144,002,025
Ensembl chr 2:144,191,846...144,212,138
Ensembl chr 2:144,191,846...144,212,138
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 2:247,392,195...247,662,026
Ensembl chr 2:247,403,920...247,446,882
JBrowse link
G Cav1 caveolin 1 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 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
JBrowse link
Primary Pulmonary Hypertension, 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnk3 potassium two pore domain channel subfamily K member 3 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension 4
ClinVar Annotator: match by OMIM:615344
OMIM
ClinVar
PMID:23883380, PMID:25741868, PMID:26387786, PMID:28492532 NCBI chr 6:27,154,274...27,190,209
Ensembl chr 6:27,151,612...27,190,132
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 chr10:13,723,365...13,780,558
Ensembl chr10:13,723,405...13,779,963
JBrowse link
G Abi2 abl-interactor 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:67,234,612...67,284,504
Ensembl chr 9:67,234,303...67,282,600
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 chr 7:142,769,942...142,787,336
Ensembl chr 7:142,776,252...142,787,335
JBrowse link
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:65,961,361...66,034,396
Ensembl chr 9:65,961,346...66,033,871
JBrowse link
G Aox1 aldehyde oxidase 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:64,929,682...65,007,872
Ensembl chr 9:64,929,721...65,007,870
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 chr16:10,758,278...10,852,170
Ensembl chr16:10,758,527...10,802,512
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 2:247,392,195...247,662,026
Ensembl chr 2:247,403,920...247,446,882
JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 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 9:66,568,074...66,683,019
Ensembl chr 9:66,568,074...66,676,494
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 9:65,279,675...65,293,471
Ensembl chr 9:65,279,675...65,291,651
JBrowse link
G C2cd6 C2 calcium dependent domain containing 6 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:65,817,039...65,879,564
Ensembl chr 9:65,833,460...65,879,521
JBrowse link
G Carf calcium responsive transcription factor ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:66,878,526...66,928,658
Ensembl chr 9:66,888,393...66,926,377
JBrowse link
G Casp8 caspase 8 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
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 chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
JBrowse link
G Cd28 Cd28 molecule ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:67,546,408...67,573,858
Ensembl chr 9:67,546,408...67,571,871
JBrowse link
G Cdk15 cyclin-dependent kinase 15 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:66,059,765...66,153,729
Ensembl chr 9:66,058,047...66,148,087
JBrowse link
G Cflar CASP8 and FADD-like apoptosis regulator ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:65,534,608...65,586,395
Ensembl chr 9:65,534,704...65,587,251
JBrowse link
G Clk1 CDC-like kinase 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:65,296,777...65,308,017
Ensembl chr 9:65,296,778...65,307,995
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
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 9:67,130,222...67,179,693
Ensembl chr 9:67,130,259...67,179,692
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 chr 2:80,947,730...81,143,997
NCBI chr 2:81,159,060...81,337,560
Ensembl chr 2:80,948,658...81,143,447
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 8:5,217,054...5,436,969
Ensembl chr 8:5,217,217...5,429,581
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 3:110,159,624...110,245,382
Ensembl chr 3:110,159,708...110,249,217
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 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
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 9:66,716,969...66,784,487
Ensembl chr 9:66,716,969...66,784,487
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 9:65,406,136...65,478,399
Ensembl chr 9:65,406,138...65,442,257
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 9:65,665,663...65,693,822
Ensembl chr 9:65,665,664...65,693,822
JBrowse link
G Fzd7 frizzled class receptor 7 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:66,305,731...66,308,550
Ensembl chr 9:66,305,731...66,308,550
JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
JBrowse link
G Hydin Hydin, axonemal central pair apparatus protein ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr19:41,036,507...41,379,634
Ensembl chr19:41,036,510...41,379,588
JBrowse link
G Ica1l islet cell autoantigen 1-like ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:66,788,094...66,848,958
Ensembl chr 9:66,790,047...66,845,403
JBrowse link
G Icos inducible T-cell co-stimulator ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:67,748,157...67,786,808
Ensembl chr 9:67,763,897...67,785,580
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 chr 6:27,154,274...27,190,209
Ensembl chr 6:27,151,612...27,190,132
JBrowse link
G Kctd18 potassium channel tetramerization domain containing 18 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:64,849,547...64,916,652
Ensembl chr 9:64,852,289...64,916,652
JBrowse link
G Mpp4 membrane palmitoylated protein 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:65,917,917...65,961,274
Ensembl chr 9:65,917,917...65,957,101
JBrowse link
G Nbeal1 neurobeachin-like 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:66,951,354...67,113,395
Ensembl chr 9:66,952,720...67,110,693
JBrowse link
G Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:65,478,496...65,488,708
Ensembl chr 9:65,478,496...65,488,702
JBrowse link
G Nif3l1 NGG1 interacting factor 3 like 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:65,329,143...65,349,280
Ensembl chr 9:65,331,290...65,349,141
JBrowse link
G Nop58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:66,495,881...66,520,521
Ensembl chr 9:66,495,832...66,519,788
JBrowse link
G Orc2 origin recognition complex, subunit 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:65,350,630...65,387,293
Ensembl chr 9:65,350,627...65,387,169
JBrowse link
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr  X:158,698,353...158,739,855
Ensembl chr  X:158,698,356...158,739,838
Ensembl chr  X:158,698,356...158,739,838
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 chr12:12,714,394...12,738,654
Ensembl chr12:12,714,394...12,738,641
JBrowse link
G Ppil3 peptidylprolyl isomerase like 3 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:65,315,407...65,329,145
Ensembl chr 9:65,315,410...65,329,066
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 9:67,290,004...67,370,208
Ensembl chr 9:67,293,309...67,341,341
JBrowse link
G Sgo2 shugoshin 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:64,898,380...64,923,023
Ensembl chr 9:64,898,459...64,923,012
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 2:143,951,725...144,002,025
Ensembl chr 2:144,191,846...144,212,138
Ensembl chr 2:144,191,846...144,212,138
JBrowse link
G Sod2 superoxide dismutase 2 IEP
ISO
protein:decreased expression:pulmonary artery
protein:decreased expression:small pulmonary artery
RGD PMID:20529999, PMID:20529999 RGD:27095884, RGD:27095884 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Spats2l spermatogenesis associated, serine-rich 2-like ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:64,643,223...64,843,963
Ensembl chr 9:64,643,281...64,843,960
JBrowse link
G Stradb STE20 related adaptor beta ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:65,763,437...65,782,513
Ensembl chr 9:65,763,437...65,782,513
JBrowse link
G Sumo1 small ubiquitin-like modifier 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:66,453,428...66,483,614
Ensembl chr 9:66,453,438...66,483,614
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 chr10:73,331,864...73,362,784
Ensembl chr10:73,333,119...73,362,783
JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:65,882,063...65,917,424
Ensembl chr 9:65,882,054...65,917,132
JBrowse link
G Trak2 trafficking kinesin protein 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:65,698,706...65,763,351
Ensembl chr 9:65,698,712...65,763,273
JBrowse link
G Wdr12 WD repeat domain 12 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:66,851,499...66,878,534
Ensembl chr 9:66,851,940...66,877,972
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 chr 7:142,769,942...142,787,336
Ensembl chr 7:142,776,252...142,787,335
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 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
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 IEP mRNA:increased expression:lung (rat) RGD PMID:23517027 RGD:12738217 NCBI chr11:88,830,968...88,882,271
Ensembl chr11:88,830,957...88,880,198
JBrowse link
G Fis1 fission, mitochondrial 1 IEP mRNA:increased expression:lung (rat) RGD PMID:23517027 RGD:12738217 NCBI chr12:22,750,485...22,765,324
Ensembl chr12:22,750,485...22,765,308
JBrowse link
G Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25373139 NCBI chr 2:181,045,694...181,103,321
Ensembl chr 2:181,045,703...181,102,918
JBrowse link
G Hmox1 heme oxygenase 1 IEP protein:increased expression:lung RGD PMID:21296072 RGD:10755745 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Mfn2 mitofusin 2 IEP mRNA:decreased expression:lung (rat) RGD PMID:23517027 RGD:12738217 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
Pulmonary Hypertension, Hypoxia-Induced term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Egln1 egl-9 family hypoxia-inducible factor 1 IEP RGD PMID:16761101 RGD:11252085 NCBI chr19:57,660,194...57,701,158
Ensembl chr19:57,662,278...57,699,113
JBrowse link
G Egln3 egl-9 family hypoxia-inducible factor 3 IEP RGD PMID:16761101 RGD:11252085 NCBI chr 6:75,050,329...75,075,795
Ensembl chr 6:75,050,329...75,075,795
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase treatment IMP RGD PMID:25063801 RGD:10449119 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 IEP mRNA:decreased expression:lung (rat) RGD PMID:19823174 RGD:4145499 NCBI chr 1:263,246,248...263,269,762
Ensembl chr 1:263,246,248...263,269,762
JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 IEP mRNA:decreased expression:lung (rat) RGD PMID:19823174 RGD:4145499 NCBI chr19:9,587,637...9,613,323
Ensembl chr19:9,587,653...9,613,340
JBrowse link
G Hpgd 15-hydroxyprostaglandin dehydrogenase IEP mRNA, protein:increased expression:lung RGD PMID:24657469 RGD:11667099 NCBI chr16:37,457,134...37,495,758
Ensembl chr16:37,457,135...37,495,758
JBrowse link
G Mfn2 mitofusin 2 IEP mRNA, protein:decreased expression:lung (rat) RGD PMID:26485208 RGD:12910856 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
G Nog noggin IEP mRNA,protein:decreased expression:lung: RGD PMID:25740156 RGD:12801489 NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
JBrowse link
G Nos3 nitric oxide synthase 3 IEP mRNA,protein:increased expression:pulmonary artery RGD PMID:9950873 RGD:11533933 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Slc39a12 solute carrier family 39 member 12 IMP RGD PMID:26258299 RGD:10401832 NCBI chr17:81,455,731...81,541,742
Ensembl chr17:81,455,955...81,541,759
JBrowse link
G Slc39a12em77Tja solute carrier family 39 (zinc transporter), member 12; zinc finger nuclease induced mutant 77, Timothy J. Aitman IMP RGD PMID:26258299 RGD:10401832
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 IEP protein:increased expression:lung RGD PMID:32209028 RGD:38549370 NCBI chr 7:121,480,723...121,482,781
Ensembl chr 7:121,480,723...121,482,772
JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:66,568,074...66,683,019
Ensembl chr 9:66,568,074...66,676,494
JBrowse link
G Ddit3 DNA-damage inducible transcript 3 ISO
IEP
protein:increased expression:lung, endothelial cell RGD PMID:32209028, PMID:32209028 RGD:38549370, RGD:38549370 NCBI chr 7:70,578,564...70,585,074
Ensembl chr 7:70,580,198...70,585,084
JBrowse link
G Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 IEP protein:increased expression:lung RGD PMID:32209028 RGD:38549370 NCBI chr 6:1,428,845...1,466,193
Ensembl chr 6:1,428,834...1,466,201
JBrowse link
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 IEP protein:increased expression:lung RGD PMID:32209028 RGD:38549370 NCBI chr 4:98,648,513...98,709,695
Ensembl chr 4:98,648,545...98,709,694
JBrowse link
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 disease_progression ISO
IEP
CTD Direct Evidence: marker/mechanism
protein:decreased expression:lung
CTD PMID:24292273, PMID:32209028, PMID:32209028 RGD:38549370, RGD:38549370 NCBI chr 3:110,159,624...110,245,382
Ensembl chr 3:110,159,708...110,249,217
JBrowse link
G Erg ETS transcription factor ERG IEP
ISO
protein:decreased expression:lung RGD PMID:32209028, PMID:32209028 RGD:38549370, RGD:38549370 NCBI chr11:35,645,317...35,749,637
Ensembl chr11:35,646,116...35,749,594
JBrowse link
G Hmox1 heme oxygenase 1 ISO
IEP
protein:increased expression:lung, endothelial cell RGD PMID:32209028, PMID:32209028 RGD:38549370, RGD:38549370 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Kcnk3 potassium two pore domain channel subfamily K member 3 IDA RGD PMID:32209028 RGD:38549370 NCBI chr 6:27,154,274...27,190,209
Ensembl chr 6:27,151,612...27,190,132
JBrowse link
Pulmonary Venoocclusive Disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1, autosomal dominant OMIM
ClinVar
PMID:11115378, PMID:12446270, PMID:16429395, PMID:16429403, PMID:18626305, PMID:20534176, PMID:26387786 NCBI chr 9:66,568,074...66,683,019
Ensembl chr 9:66,568,074...66,676,494
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 3:110,159,624...110,245,382
Ensembl chr 3:110,159,708...110,249,217
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 3:110,159,624...110,245,382
Ensembl chr 3:110,159,708...110,249,217
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      respiratory system disease 2733
        lung disease 1626
          pulmonary hypertension 296
            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 19
            Rowley-Rosenberg Syndrome 0
            Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 0
            persistent fetal circulation syndrome 32
            primary pulmonary hypertension + 22
            pulmonary venoocclusive disease + 9
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      cardiovascular system disease 4483
        vascular disease 3414
          artery disease 2363
            hypertension 1493
              pulmonary hypertension 296
                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 19
                Rowley-Rosenberg Syndrome 0
                Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 0
                persistent fetal circulation syndrome 32
                primary pulmonary hypertension + 22
                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.