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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:pulmonary hypertension
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Accession:DOID:6432 term browser browse the term
Definition:Increased VASCULAR RESISTANCE in the PULMONARY CIRCULATION, usually secondary to HEART DISEASES or LUNG DISEASES.
Synonyms:exact_synonym: PHT
 narrow_synonym: PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED;   PULMONARY HYPERTENSION, PRIMARY, FENFLURAMINE-ASSOCIATED
 primary_id: MESH:D006976
 alt_id: RDO:0001161;   RDO:0001800
 xref: ICD10CM:I27.20;   NCI:C3120
For additional species annotation, visit the Alliance of Genome Resources.



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pulmonary hypertension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca3 ATP binding cassette subfamily A member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26780485 NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745
JBrowse link
G Ace angiotensin I converting enzyme ISO CTD Direct Evidence: marker/mechanism CTD PMID:12359135 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Ace2 angiotensin I converting enzyme 2 treatment ISO CTD Direct Evidence: therapeutic
human protein in a rat model
CTD
RGD
PMID:31931441 PMID:25225206 RGD:40818280 NCBI chr  X:30,293,597...30,340,961
Ensembl chr  X:30,293,589...30,340,977
JBrowse link
G Acvrl1 activin A receptor like type 1 susceptibility
disease_progression
ISO
IEP
associated with hereditary haemorrhagic telangiectasia;DNA:missense mutations
CTD Direct Evidence: marker/mechanism
DNA:mutations (human)
mRNA:increased expression:lung
CTD
RGD
PMID:26540443 PMID:14684682 PMID:20056902 PMID:17392319 RGD:1601117, RGD:5128837, RGD:1601116 NCBI chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591
JBrowse link
G Adh5 alcohol dehydrogenase 5 (class III), chi polypeptide ISO RGD PMID:20431245 RGD:5128886 NCBI chr 2:226,975,184...226,987,591
Ensembl chr 2:226,947,466...226,987,591
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO RGD PMID:19168697 RGD:5686821 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
JBrowse link
G Adm adrenomedullin ISO RGD PMID:14718403 RGD:1625305 NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654
JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO protein:increased expression:lung (human) RGD PMID:21041689 RGD:7244258 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
JBrowse link
G Agt angiotensinogen IDA RGD PMID:21381494 RGD:5129162 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Agtr1a angiotensin II receptor, type 1a onset ISO DNA:polymorphism:3' utr:1166A>C (human) RGD PMID:19332265 RGD:5147450 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
JBrowse link
G Alas1 5'-aminolevulinate synthase 1 IEP mRNA:increased expression:lung (rat) RGD PMID:16181105 RGD:4144185 NCBI chr 8:106,876,514...106,889,852
Ensembl chr 8:106,876,514...106,889,917
JBrowse link
G Alox5 arachidonate 5-lipoxygenase treatment ISO
IEP
IMP
IDA
protein:increased expression:artery
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:14726295 PMID:9445303 PMID:31462075 PMID:31462075 PMID:14726295 More... RGD:1626154, RGD:14975304, RGD:14975304, RGD:4890418, RGD:734558 NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
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 chr12:5,748,941...5,772,986
Ensembl chr12:5,748,944...5,772,986
JBrowse link
G Angpt1 angiopoietin 1 IEP protein:decreased expression:pulmonary artery RGD PMID:18073453 RGD:2316069 NCBI chr 7:73,528,345...73,783,953
Ensembl chr 7:73,531,486...73,784,067
JBrowse link
G Angpt2 angiopoietin 2 IEP protein:increased expression:pulmonary artery (rat) RGD PMID:19712575 RGD:2314185 NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
JBrowse link
G Apln apelin ISO protein:decreased expression:plasma RGD PMID:16263185 RGD:1626175 NCBI chr  X:127,180,801...127,213,567
Ensembl chr  X:127,203,823...127,213,391
JBrowse link
G Arg2 arginase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24951775 NCBI chr 6:97,936,002...97,961,379
Ensembl chr 6:97,936,002...97,961,378
JBrowse link
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 treatment IEP
ISO
RGD PMID:27144451 PMID:23804254 RGD:13782086, RGD:13782089 NCBI chr12:34,072,710...34,122,142
Ensembl chr12:34,072,683...34,122,101
JBrowse link
G Atp5f1a ATP synthase F1 subunit alpha treatment IDA chronic thromboembolic pulmonary hypertension RGD PMID:21396162 RGD:13703061 NCBI chr18:71,292,406...71,300,342
Ensembl chr18:71,292,374...71,300,794
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 chr11:23,881,594...23,889,581
Ensembl chr11:23,881,592...23,889,119
JBrowse link
G Atp7a ATPase copper transporting alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614111 NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354
JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP protein:decreased expression:heart right ventricle RGD PMID:18441466 RGD:2293022 NCBI chr13:22,689,783...22,853,920 JBrowse link
G Bcl2l1 Bcl2-like 1 treatment IDA RGD PMID:22559233 RGD:10400914 NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
JBrowse link
G Bdkrb2 bradykinin receptor B2 IDA RGD PMID:15878794 RGD:4890453 NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497
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 chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
JBrowse link
G Bmpr1a bone morphogenetic protein receptor type 1A ISO RGD PMID:19324947 RGD:5129472 NCBI chr16:9,736,390...9,829,825
Ensembl chr16:9,736,630...9,780,616
JBrowse link
G Bmpr1b bone morphogenetic protein receptor type 1B ISO RGD PMID:19324947 RGD:5129472 NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368
JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 treatment
disease_progression
ISO
IMP
IEP
DNA:mutations: :multiple (human)
induced by human ad-ALOX5
protein:decreased expression:lung
CTD Direct Evidence: marker/mechanism
DNA:missense mutations (human)
CTD
RGD
PMID:11590841 PMID:11893684 PMID:12358323 PMID:16297860 PMID:20496075 More... RGD:5129238, RGD:14975304, RGD:38500243, RGD:38500244, RGD:5129472, RGD:5129239, RGD:5129237, RGD:5129474, RGD:1580076 NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
JBrowse link
G Bmpr2em1Sage bone morphogenetic protein receptor type 2; ZFN induced mutant 1, Sage IMP induced by human ad-ALOX5 RGD PMID:31462075 RGD:14975304
G Bmpr2em2Sage bone morphogenetic protein receptor type 2; ZFN induced mutant 2, Sage IMP induced by human ad-ALOX5 RGD PMID:31462075 RGD:14975304
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: therapeutic CTD PMID:26224795 NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539
JBrowse link
G Ca9 carbonic anhydrase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20110409 NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838
JBrowse link
G Calca calcitonin-related polypeptide alpha ISO CTD Direct Evidence: therapeutic CTD PMID:1357980 NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105
JBrowse link
G Casr calcium-sensing receptor IEP protein:increased expression:pulmonary artery (rat) RGD PMID:22730443 RGD:7205669 NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
JBrowse link
G Cavin1 caveolae associated protein 1 ISS OMIM:615371 MouseDO NCBI chr10:85,884,100...85,896,136
Ensembl chr10:85,889,036...85,896,120
JBrowse link
G Cbln2 cerebellin 2 precursor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23502781 NCBI chr18:79,940,412...79,948,766
Ensembl chr18:79,942,590...79,947,855
JBrowse link
G Ccl1 C-C motif chemokine ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22507635 NCBI chr10:67,128,331...67,131,109
Ensembl chr10:67,128,331...67,131,159
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
RGD
PMID:15302794 PMID:30418988 PMID:19087668 PMID:9605182 RGD:2307003, RGD:8549547 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased secretion:serum (human) RGD PMID:19932032 RGD:4891440 NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
JBrowse link
G Ccn2 cellular communication network factor 2 IEP protein:increased expression:pulmonary artery (rat) RGD PMID:19234054 RGD:2314535 NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
JBrowse link
G Cd209 CD209 molecule ISO RGD PMID:17107989 RGD:5131187 NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
JBrowse link
G Cd209c CD209c molecule ISO RGD PMID:17107989 RGD:5131187 NCBI chr12:1,936,233...1,943,841
Ensembl chr12:1,936,396...1,942,040
JBrowse link
G Cd28 Cd28 molecule ISO RGD PMID:19075187 RGD:5131619 NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
JBrowse link
G Cd40 CD40 molecule treatment IMP RGD PMID:25998782 RGD:11344970 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Cd40lg CD40 ligand IEP
ISO
protein:increased expression:serum (rat)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:15302794 PMID:25998782 RGD:11344970 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Cd86 CD86 molecule ISO protein:decreased expression:blood, myeloid dendritic cell (human) RGD PMID:19693657 RGD:4892293 NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
JBrowse link
G Cdh5 cadherin 5 IEP protein:decreased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chr19:815,415...854,478
Ensembl chr19:815,411...854,368
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A treatment ISO
IEP
RGD PMID:24334871 PMID:24412385 RGD:10043360, RGD:10043361 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B treatment IEP RGD PMID:22383500 RGD:10045357 NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
JBrowse link
G Clu clusterin IEP RGD PMID:25069740 RGD:9068424 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment IEP RGD PMID:25867313 RGD:11041577 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
G Col4a1 collagen type IV alpha 1 chain treatment IEP RGD PMID:25867313 RGD:11041577 NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
JBrowse link
G Crp C-reactive protein ISO associated with Pulmonary Disease, Chronic Obstructive RGD PMID:22333502 RGD:6482312 NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G Csf3 colony stimulating factor 3 treatment ISO RGD PMID:17186992 PMID:12524378 RGD:11039432, RGD:11039539 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
JBrowse link
G Ctnnd1 catenin delta 1 treatment IEP RGD PMID:25593290 RGD:38500244 NCBI chr 3:69,683,328...69,734,550
Ensembl chr 3:69,683,313...69,734,516
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 chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
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 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 treatment IMP RGD PMID:21294880 RGD:6480473 NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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 chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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:13,360,583...13,392,517
Ensembl chr  X:13,359,430...13,392,586
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 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
JBrowse link
G Cyp2j4 cytochrome P450, family 2, subfamily j, polypeptide 4 ISO RGD PMID:20118222 RGD:7243137 NCBI chr 5:111,179,981...111,207,490
Ensembl chr 5:111,178,703...111,244,794
JBrowse link
G Cysltr1 cysteinyl leukotriene receptor 1 IMP associated with Anoxia RGD PMID:12910720 RGD:4848274 NCBI chr  X:71,661,415...71,690,158
Ensembl chr  X:71,663,821...71,690,121
JBrowse link
G Ece1 endothelin converting enzyme 1 IMP associated with Anoxia; RGD PMID:18767389 RGD:7243939 NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371
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
RGD
PMID:7549228 PMID:9918753 PMID:12391278 PMID:20929026 PMID:20967148 More... RGD:4144865, RGD:4144128, RGD:4144882, RGD:4144877 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
JBrowse link
G Edn2 endothelin 2 ISO RGD PMID:10598486 RGD:1580918 NCBI chr 5:133,751,316...133,756,814
Ensembl chr 5:133,751,217...133,756,814
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 chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
JBrowse link
G Ednrb endothelin receptor type B IMP
ISO
IDA
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15927975 PMID:18091567 PMID:15243299 PMID:20562228 RGD:4892289, RGD:1580949, RGD:4144877 NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
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 chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
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 chr18:26,463,333...26,465,531
Ensembl chr18:26,462,981...26,466,766
JBrowse link
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24292273 NCBI chr 3:105,356,261...105,441,630
Ensembl chr 3:105,356,261...105,441,630
JBrowse link
G Eng endoglin ISO RGD PMID:20042709 RGD:11041178 NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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 6:7,790,236...7,871,246
Ensembl chr 6:7,790,647...7,871,228
JBrowse link
G Ephx2 epoxide hydrolase 2 IMP RGD PMID:19226702 RGD:5688731 NCBI chr15:40,289,901...40,327,632
Ensembl chr15:40,289,902...40,327,615
JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:22559233 RGD:10400914 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
JBrowse link
G Esr1 estrogen receptor 1 ISO RGD PMID:20081107 RGD:4892253 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
JBrowse link
G Esr2 estrogen receptor 2 IDA RGD PMID:21700911 RGD:5508791 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
JBrowse link
G F5 coagulation factor V ISO Chronic thromboembolic pulmonary hypertension (CTEPH) RGD PMID:20182352 RGD:4892669 NCBI chr13:76,513,463...76,583,106
Ensembl chr13:76,513,255...76,582,317
JBrowse link
G Fbln5 fibulin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12189163 NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755
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 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 IMP RGD PMID:19197140 RGD:2315911 NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Foxo1 forkhead box O1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr 2:136,312,168...136,390,603
Ensembl chr 2:136,312,168...136,387,790
JBrowse link
G Gata4 GATA binding protein 4 IEP protein:increased expression:heart right ventricle RGD PMID:21059997 RGD:7207053 NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
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 chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532
JBrowse link
G Gba glucosylceramidase beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:12359135 NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
JBrowse link
G Gdf2 growth differentiation factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26801773 NCBI chr16:9,255,430...9,261,429
Ensembl chr16:9,255,430...9,261,429
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 chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
JBrowse link
G Gpr182 G protein-coupled receptor 182 IEP mRNA:increased expression:lung RGD PMID:12622928 RGD:1625768 NCBI chr 7:63,585,997...63,589,088
Ensembl chr 7:63,578,750...63,589,210
JBrowse link
G Has1 hyaluronan synthase 1 IEP RGD PMID:19915162 RGD:9588633 NCBI chr 1:58,693,411...58,705,653
Ensembl chr 1:58,693,411...58,705,397
JBrowse link
G Has2 hyaluronan synthase 2 IEP mRNA:increased expression:lung RGD PMID:19915162 RGD:9588633 NCBI chr 7:88,113,326...88,139,337
Ensembl chr 7:88,113,326...88,128,933
JBrowse link
G Has3 hyaluronan synthase 3 IEP mRNA:decreased expression:lung RGD PMID:19915162 RGD:9588633 NCBI chr19:34,768,421...34,782,170
Ensembl chr19:34,771,982...34,782,592
JBrowse link
G Hdac1 histone deacetylase 1 ISO
IEP
protein:increased expression:lung: RGD PMID:22711276 PMID:22711276 RGD:9590133, RGD:9590133 NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111
JBrowse link
G Hdac2 histone deacetylase 2 ISO protein:decreased expression:lung: RGD PMID:22711276 RGD:9590133 NCBI chr20:40,548,250...40,571,609
Ensembl chr20:40,548,250...40,571,609
JBrowse link
G Hdac3 histone deacetylase 3 ISO protein:decreased expression:lung: RGD PMID:22711276 RGD:9590133 NCBI chr18:29,770,637...29,789,850
Ensembl chr18:29,770,636...29,793,856
JBrowse link
G Hdac4 histone deacetylase 4 ISO protein:increased expression:lung: RGD PMID:22711276 RGD:9590133 NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
JBrowse link
G Hdac5 histone deacetylase 5 ISO
IEP
protein:increased expression:lung: RGD PMID:22711276 PMID:22711276 RGD:9590133, RGD:9590133 NCBI chr10:87,152,978...87,187,921
Ensembl chr10:87,152,978...87,188,235
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
RGD
PMID:20110409 PMID:17213961 PMID:16215633 RGD:1601553, RGD:10395375 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
JBrowse link
G Hif3a hypoxia inducible factor 3 subunit alpha IEP RGD PMID:16215633 RGD:10395375 NCBI chr 1:77,718,110...77,750,448
Ensembl chr 1:77,722,471...77,749,758
JBrowse link
G Hk1 hexokinase 1 IEP mRNA:increased expression:lung RGD PMID:25767292 RGD:11353880 NCBI chr20:30,230,488...30,332,161
Ensembl chr20:30,230,486...30,332,131
JBrowse link
G Hmgb1 high mobility group box 1 treatment IMP RGD PMID:25032709 RGD:10402082 NCBI chr12:5,973,062...5,978,565
Ensembl chr12:5,901,586...5,978,565
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase IMP RGD PMID:12750068 RGD:5508701 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
JBrowse link
G Hmox1 heme oxygenase 1 IEP
ISO
IDA
RGD PMID:14970910 PMID:20957739 PMID:19409105 RGD:1582715, RGD:4145325, RGD:4145307 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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 chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
JBrowse link
G Hpgd 15-hydroxyprostaglandin dehydrogenase ISO mRNA, protein:increased expression:lung RGD PMID:24657469 RGD:11667099 NCBI chr16:33,986,265...34,024,228
Ensembl chr16:33,986,266...34,024,228
JBrowse link
G Htr2b 5-hydroxytryptamine receptor 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:14659797 NCBI chr 9:86,735,793...86,756,640
Ensembl chr 9:86,742,102...86,755,108
JBrowse link
G Hyal1 hyaluronidase 1 IEP mRNA:decreased expression:lung RGD PMID:19915162 RGD:9588633 NCBI chr 8:108,250,654...108,254,526
Ensembl chr 8:108,250,667...108,260,210
JBrowse link
G Hyal2 hyaluronidase 2 IEP mRNA:decreased expression:lung RGD PMID:19915162 RGD:9588633 NCBI chr 8:108,241,895...108,246,853
Ensembl chr 8:108,243,133...108,246,850
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 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Id1 inhibitor of DNA binding 1, HLH protein IDA RGD PMID:20522807 RGD:9686087 NCBI chr 3:141,210,666...141,212,420
Ensembl chr 3:141,211,267...141,212,419
JBrowse link
G Ifngr1 interferon gamma receptor 1 ISO mRNA: increased expression RGD PMID:20808962 RGD:4892610 NCBI chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785
JBrowse link
G Il10 interleukin 10 disease_progression ISO protein:increased expression:serum RGD PMID:20713898 RGD:4142530 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il13 interleukin 13 ISO associated with sclerosis; protein:increased expression:plasma (human)
associated with Scleroderma, Limited;protein:increased expression:plasma
RGD PMID:19799786 PMID:21425123 RGD:4145600, RGD:8549528 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
JBrowse link
G Il13ra1 interleukin 13 receptor subunit alpha 1 ISO RGD PMID:20671265 PMID:20808962 RGD:4892611, RGD:4892610 NCBI chr  X:115,348,860...115,408,682
Ensembl chr  X:115,348,860...115,408,681
JBrowse link
G Il13ra2 interleukin 13 receptor subunit alpha 2 ISO mRNA:increased expression:lung RGD PMID:20522789 RGD:4892612 NCBI chr  X:111,002,590...111,074,053
Ensembl chr  X:111,002,592...111,072,381
JBrowse link
G Il18 interleukin 18 ISO RGD PMID:17400729 RGD:4889590 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO RGD PMID:7946395 RGD:4143197 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Il23r interleukin 23 receptor ISO associated with Scleroderma, Systemic;DNA:SNPs: :rs11209026, rs11465804 (human) RGD PMID:19918037 RGD:5096624 NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
JBrowse link
G Il4 interleukin 4 ISO RGD PMID:20889544 RGD:5128515 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G Il6 interleukin 6 disease_progression ISO
IDA
RGD PMID:20713898 PMID:20693255 RGD:4142530, RGD:4143246 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Kcna5 potassium voltage-gated channel subfamily A member 5 ISO
IDA
DNA:SNPs:promoter, cds
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:27522126 PMID:17267549 PMID:20303989 PMID:17596340 RGD:1627654, RGD:7242752, RGD:1627651 NCBI chr 4:159,354,689...159,358,173
Ensembl chr 4:159,350,097...159,357,697
JBrowse link
G Kcnk3 potassium two pore domain channel subfamily K member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30365877 NCBI chr 6:25,761,487...25,799,153
Ensembl chr 6:25,763,228...25,799,153
JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28090300 NCBI chr15:302,078...1,001,198
Ensembl chr15:302,214...1,001,198
JBrowse link
G Lcn2 lipocalin 2 IEP
ISO
mRNA,protein:increased expression:lung
associated with congenital heart disease; protein:increased expression:plasma
RGD PMID:25076856 PMID:25076856 RGD:126781744, RGD:126781744 NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30689673 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
JBrowse link
G Lox lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614111 NCBI chr18:45,964,311...46,041,477
Ensembl chr18:45,967,343...46,041,477
JBrowse link
G Mapk1 mitogen activated protein kinase 1 treatment ISO RGD PMID:25907942 RGD:13800893 NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
JBrowse link
G Mapk3 mitogen activated protein kinase 3 treatment ISO RGD PMID:25907942 RGD:13800893 NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
JBrowse link
G Mfn1 mitofusin 1 IEP protein:decreased expression:heart right ventricle (rat) RGD PMID:27422986 RGD:12910832 NCBI chr 2:115,313,380...115,359,651
Ensembl chr 2:115,313,401...115,359,640
JBrowse link
G Mif macrophage migration inhibitory factor ISO associated with sclerodema, systemic; protein:increased expression:serum RGD PMID:18618071 RGD:4891006 NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
JBrowse link
G Mir125a microRNA 125a treatment IDA RGD PMID:29700287 RGD:26884455 NCBI chr 1:58,677,626...58,677,710
Ensembl chr 1:58,677,626...58,677,710
JBrowse link
G Mir204 microRNA 204 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26224795 NCBI chr 1:220,316,931...220,317,040
Ensembl chr 1:220,316,931...220,317,040
JBrowse link
G Mir21 microRNA 21 IEP RNA:increased expression:lung RGD PMID:32402408 RGD:41410883 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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:61,141,887...61,141,996
Ensembl chr  X:61,141,887...61,141,996
JBrowse link
G Mmp1 matrix metallopeptidase 1 IDA RGD PMID:23087098 RGD:7207217 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Mtor mechanistic target of rapamycin kinase IMP RGD PMID:23470622 RGD:10041039 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor treatment IDA RGD PMID:22306243 RGD:7240564 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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 6:49,425,316...49,462,109
Ensembl chr 6:49,424,332...49,462,100
JBrowse link
G Nfatc2 nuclear factor of activated T-cells 2 IMP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:27522126 PMID:17596340 RGD:1627651 NCBI chr 3:157,195,970...157,328,640
Ensembl chr 3:157,198,872...157,328,325
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 chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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
RGD
PMID:21144100 PMID:21144100 PMID:29151278 PMID:25699607 PMID:11686901 More... RGD:4892009, RGD:13504742, RGD:11533642, RGD:5132631, RGD:4892004, RGD:5132602, RGD:4892010, RGD:4892039, RGD:4892038, RGD:4892043, RGD:4892042 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Nox4 NADPH oxidase 4 ISO associated with Anoxia;mRNA, protein:increased expression:lung RGD PMID:18952568 RGD:4762683 NCBI chr 1:140,900,886...141,078,844
Ensembl chr 1:140,901,097...141,077,406
JBrowse link
G Nppa natriuretic peptide A IDA RGD PMID:2136863 RGD:7247720 NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
JBrowse link
G Nppb natriuretic peptide B severity IEP
ISO
protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:20408845 PMID:21351102 PMID:16936438 PMID:16893710 RGD:1642203, RGD:1642205 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
JBrowse link
G Pde3a phosphodiesterase 3A IEP mRNA:increased expression:pulmonary artery RGD PMID:12466227 RGD:1582528 NCBI chr 4:174,172,804...174,443,944
Ensembl chr 4:174,172,868...174,438,274
JBrowse link
G Pde5a phosphodiesterase 5A IMP RGD PMID:19881228 RGD:2314460 NCBI chr 2:210,858,515...211,003,480
Ensembl chr 2:210,858,063...210,999,701
JBrowse link
G Pdgfa platelet derived growth factor subunit A IEP RGD PMID:8447423 RGD:1580847 NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497
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 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
JBrowse link
G Pdia3 protein disulfide isomerase family A, member 3 IEP protein:increased expression:lung: RGD PMID:23315792 RGD:9999167 NCBI chr 3:108,388,189...108,412,013
Ensembl chr 3:108,388,245...108,413,236
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 treatment IDA RGD PMID:22559233 RGD:10400914 NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
JBrowse link
G Prkg1 protein kinase cGMP-dependent 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21351102 NCBI chr 1:228,409,883...229,638,794
Ensembl chr 1:228,408,947...229,639,080
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 3:155,928,564...155,964,228
Ensembl chr 3:155,916,412...155,965,451
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP
ISO
anoxia associated; RGD PMID:18542928 PMID:19577709 RGD:2300276, RGD:5135495 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Ptk2 protein tyrosine kinase 2 ISO RGD PMID:16244766 RGD:1581290 NCBI chr 7:105,126,725...105,331,848
Ensembl chr 7:105,126,728...105,331,783
JBrowse link
G Ramp2 receptor activity modifying protein 2 IEP mRNA:increased expression:heart right ventricle RGD PMID:17437045 RGD:1642678 NCBI chr10:86,187,366...86,190,692
Ensembl chr10:86,188,812...86,231,829
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 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
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 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
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 chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Slc2a4 solute carrier family 2 member 4 IEP RGD PMID:19043358 RGD:2313622 NCBI chr10:54,666,015...54,671,581
Ensembl chr10:54,666,015...54,671,565
JBrowse link
G Slc31a1 solute carrier family 31 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614111 NCBI chr 5:75,814,744...75,844,241
Ensembl chr 5:75,814,743...75,844,228
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
RGD
PMID:18506000 PMID:16339917 PMID:19886858 PMID:11259539 PMID:19736308 More... RGD:4889442, RGD:4889430, RGD:4889445, RGD:4889432, RGD:4889440, RGD:4889434, RGD:4889432, RGD:4889435, RGD:4889437 NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
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 6:13,194,609...13,547,369
Ensembl chr 6:13,194,662...13,535,628
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 chr19:28,513,130...28,573,665
Ensembl chr19:28,513,131...28,573,651
JBrowse link
G Smad4 SMAD family member 4 IEP RGD PMID:17347486 PMID:18367643 RGD:1643222, RGD:12903274 NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
JBrowse link
G Smad6 SMAD family member 6 IEP mRNA:decreased expression:lung RGD PMID:17347486 RGD:1643222 NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763
JBrowse link
G Smad7 SMAD family member 7 IEP RGD PMID:17347486 RGD:1643222 NCBI chr18:68,988,429...69,016,774
Ensembl chr18:68,988,429...69,016,765
JBrowse link
G Smad9 SMAD family member 9 IEP RGD PMID:17347486 RGD:1643222 NCBI chr 2:138,956,326...139,006,315
Ensembl chr 2:138,986,471...139,006,307
JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3 treatment IMP RGD PMID:19088082 RGD:10042965 NCBI chr19:34,162,337...34,245,786
Ensembl chr19:34,162,341...34,245,749
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20110409 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Tac1 tachykinin, precursor 1 IMP RGD PMID:12662901 RGD:5147638 NCBI chr 4:35,679,183...35,687,180
Ensembl chr 4:35,679,704...35,687,178
JBrowse link
G Tacr1 tachykinin receptor 1 IMP RGD PMID:12662901 RGD:5147638 NCBI chr 4:114,920,844...115,089,733
Ensembl chr 4:114,920,844...115,089,733
JBrowse link
G Tacr2 tachykinin receptor 2 IMP RGD PMID:12662901 RGD:5147638 NCBI chr20:30,208,907...30,223,446
Ensembl chr20:30,208,907...30,223,446
JBrowse link
G Tek TEK receptor tyrosine kinase ISO mRNA, protein:increased expression:lung RGD PMID:16917117 RGD:1601487 NCBI chr 5:109,607,077...109,733,805
Ensembl chr 5:109,607,077...109,733,804
JBrowse link
G Tert telomerase reverse transcriptase treatment IEP
ISO
RGD PMID:24376652 PMID:24376652 RGD:11038675, RGD:11038675 NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
G Tgfa transforming growth factor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18424623 NCBI chr 4:118,618,043...118,700,897
Ensembl chr 4:118,618,269...118,700,894
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 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 IMP RGD PMID:18202349 RGD:2302019 NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 IEP mRNA:decreased expression:lung RGD PMID:17392319 RGD:1601116 NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
JBrowse link
G Thbd thrombomodulin ISO associated with Mixed Connective Tissue Disease RGD PMID:16784493 RGD:1601639 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
JBrowse link
G Thpo thrombopoietin ISO protein:increased expression:pulmonary artery, plasma RGD PMID:12487786 RGD:1580087 Ensembl chr11:80,182,820...80,188,167 JBrowse link
G Tlr4 toll-like receptor 4 ISO associated anoxia RGD PMID:20205596 RGD:4144108 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624
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
RGD
PMID:2518282 PMID:16899829 PMID:9628235 PMID:12391106 RGD:4143280, RGD:4142833, RGD:4143422 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tp53 tumor protein p53 treatment ISO RGD PMID:24334871 RGD:10043360 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Tp53bp1 tumor protein p53 binding protein 1 ISO protein:increased expression:lung RGD PMID:24270264 RGD:9586752 NCBI chr 3:108,166,574...108,270,229
Ensembl chr 3:108,169,980...108,269,822
JBrowse link
G Tph1 tryptophan hydroxylase 1 severity ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:18506000 PMID:17675372 RGD:5686352 NCBI chr 1:97,157,375...97,178,415
Ensembl chr 1:97,157,409...97,178,344
JBrowse link
G Tph2 tryptophan hydroxylase 2 severity ISO DNA:SNP: :1473C>G (mouse) RGD PMID:17675372 RGD:5686352 NCBI chr 7:50,685,694...50,789,424
Ensembl chr 7:50,685,694...50,789,424
JBrowse link
G Trpc3 transient receptor potential cation channel, subfamily C, member 3 ISO RGD PMID:15358862 RGD:1580490 NCBI chr 2:119,481,313...119,619,333
Ensembl chr 2:119,481,400...119,558,855
JBrowse link
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 ISO RGD PMID:15358862 RGD:1580490 NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
JBrowse link
G Twist1 twist family bHLH transcription factor 1 treatment IEP RGD PMID:25593290 RGD:38500244 NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
JBrowse link
G Uts2 urotensin 2 IEP RGD PMID:15042392 RGD:2306848 NCBI chr 5:161,450,846...161,456,235
Ensembl chr 5:161,450,846...161,456,237
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 IEP protein:increased expression:blood vessel endothelium RGD PMID:17934115 RGD:2298843 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
JBrowse link
G Vegfb vascular endothelial growth factor B ISO RGD PMID:12547729 RGD:1625708 NCBI chr 1:204,172,297...204,178,046
Ensembl chr 1:204,172,225...204,177,944
JBrowse link
G Vim vimentin IEP protein:increased expression, increased phosphorylation:lung RGD PMID:25593290 RGD:38500244 NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
JBrowse link
G Vip vasoactive intestinal peptide IDA RGD PMID:22140628 RGD:5685374 NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:14507115 RGD:1580645 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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:19118303 PMID:20799326 PMID:25491320 PMID:25741868 More... NCBI chr10:87,146,987...87,151,223
Ensembl chr10:87,146,901...87,151,221
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
DNA:missense mutation:CDS:p.D390G (human)
ClinVar Annotator: match by OMIM:613845
OMIM
ClinVar
RGD
PMID:24034276 PMID:25741868 PMID:28492532 PMID:21255763 RGD:41410777 NCBI chr 1:84,028,972...84,040,725
Ensembl chr 1:84,028,986...84,040,725
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 More... NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033
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 chr19:47,665,288...47,669,433
Ensembl chr19:47,665,309...47,669,436
JBrowse link
G Atp2c2 ATPase secretory pathway Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:47,754,120...47,811,369
Ensembl chr19:47,754,120...47,811,368
JBrowse link
G Cibar2 CBY1 interacting BAR domain containing 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:48,217,617...48,229,418
Ensembl chr19:48,215,486...48,229,404
JBrowse link
G Cotl1 coactosin-like F-actin binding protein 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:47,871,689...47,906,010
Ensembl chr19:47,871,694...47,911,689
JBrowse link
G Cox4i1 cytochrome c oxidase subunit 4i1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:48,721,680...48,727,920
Ensembl chr19:48,721,199...48,727,921
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO CACD, OMIM:265380, DNA:polymorphism:T1405N
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:11407344 PMID:11407344 RGD:1600716 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033
JBrowse link
G Crispld2 cysteine-rich secretory protein LCCL domain containing 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:48,053,153...48,111,485
Ensembl chr19:48,053,287...48,110,465
JBrowse link
G Dnaaf1 dynein, axonemal, assembly factor 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:47,624,534...47,652,314
Ensembl chr19:47,624,181...47,652,313
JBrowse link
G Emc8 ER membrane protein complex subunit 8 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:48,708,304...48,721,626
Ensembl chr19:48,582,574...48,721,543
JBrowse link
G Fbxo31 F-box protein 31 ISO ClinVar Annotator: match by term: Familial persistent pulmonary hypertension of the newborn ClinVar NCBI chr19:49,624,818...49,656,083
Ensembl chr19:49,627,686...49,656,010
JBrowse link
G Fendrr FOXF1 adjacent non-coding developmental regulatory RNA ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome
ClinVar Annotator: match by term: Familial persistent pulmonary hypertension of the newborn
ClinVar PMID:25741868 NCBI chr19:49,127,225...49,152,779
Ensembl chr19:49,121,214...49,153,240
JBrowse link
G Foxc2 forkhead box C2 ISO ClinVar Annotator: match by term: Familial persistent pulmonary hypertension of the newborn ClinVar NCBI chr19:49,186,034...49,188,736
Ensembl chr19:49,185,662...49,188,737
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 More... NCBI chr19:49,153,729...49,157,741
Ensembl chr19:49,153,699...49,157,738
JBrowse link
G Foxl1 forkhead box L1 ISO ClinVar Annotator: match by term: Familial persistent pulmonary hypertension of the newborn ClinVar NCBI chr19:49,196,255...49,200,682
Ensembl chr19:49,197,400...49,198,425
JBrowse link
G Gins2 GINS complex subunit 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:48,626,770...48,639,523
Ensembl chr19:48,626,770...48,639,339
JBrowse link
G Gse1 Gse1 coiled-coil protein ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:48,274,164...48,629,456
Ensembl chr19:48,274,127...48,629,458
JBrowse link
G Hsdl1 hydroxysteroid dehydrogenase like 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:47,615,794...47,631,892
Ensembl chr19:47,615,796...47,631,846
JBrowse link
G Irf8 interferon regulatory factor 8 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:48,790,483...48,812,363
Ensembl chr19:48,790,588...48,811,829
JBrowse link
G Jph3 junctophilin 3 ISO ClinVar Annotator: match by term: Familial persistent pulmonary hypertension of the newborn ClinVar NCBI chr19:49,793,967...49,855,338
Ensembl chr19:49,793,092...49,855,338
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 chr19:47,677,307...47,689,410
Ensembl chr19:47,677,327...47,689,268
JBrowse link
G Klhl36 kelch-like family member 36 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:47,921,590...47,942,627
Ensembl chr19:47,921,590...47,942,620
JBrowse link
G LOC687560 hypothetical protein LOC687560 ISO ClinVar Annotator: match by term: Familial persistent pulmonary hypertension of the newborn ClinVar NCBI chr19:49,605,818...49,619,235
Ensembl chr19:49,605,818...49,618,702
JBrowse link
G Map1lc3b microtubule-associated protein 1 light chain 3 beta ISO ClinVar Annotator: match by term: Familial persistent pulmonary hypertension of the newborn ClinVar NCBI chr19:49,665,795...49,673,655
Ensembl chr19:49,665,791...49,677,690
JBrowse link
G Mbtps1 membrane-bound transcription factor peptidase, site 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:47,561,598...47,612,769
Ensembl chr19:47,561,598...47,612,791
JBrowse link
G Meak7 MTOR associated protein, eak-7 homolog ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:47,813,899...47,836,830
Ensembl chr19:47,811,416...47,841,278
JBrowse link
G Mlycd malonyl-CoA decarboxylase ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:47,447,931...47,463,794
Ensembl chr19:47,447,970...47,463,793
JBrowse link
G Mthfsd methenyltetrahydrofolate synthetase domain containing ISO ClinVar Annotator: match by term: Familial persistent pulmonary hypertension of the newborn ClinVar NCBI chr19:49,164,266...49,178,233
Ensembl chr19:49,167,183...49,178,232
JBrowse link
G Necab2 N-terminal EF-hand calcium binding protein 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:47,501,351...47,527,722
Ensembl chr19:47,501,302...47,527,684
JBrowse link
G Nos3 nitric oxide synthase 3 ISS OMIM:265380 MouseDO NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Osgin1 oxidative stress induced growth inhibitor 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:47,471,750...47,500,517
Ensembl chr19:47,492,171...47,500,516
JBrowse link
G Pten phosphatase and tensin homolog ISS OMIM:265380 MouseDO NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G RGD1304884 similar to RIKEN cDNA 6430548M08 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:48,168,651...48,216,571
Ensembl chr19:48,198,209...48,216,575
JBrowse link
G RGD1309651 similar to 1190005I06Rik protein ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:48,660,288...48,686,569
Ensembl chr19:48,660,288...48,686,349
JBrowse link
G Slc38a8 solute carrier family 38, member 8 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:47,522,781...47,561,443
Ensembl chr19:47,525,301...47,554,726
JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17273977 NCBI chr 8:58,549,743...58,568,861
Ensembl chr 8:58,549,736...58,568,860
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 chr19:47,652,451...47,658,971
Ensembl chr19:47,652,452...47,658,971
JBrowse link
G Usp10 ubiquitin specific peptidase 10 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:47,972,858...48,014,900
Ensembl chr19:47,972,611...48,014,897
JBrowse link
G Wfdc1 WAP four-disulfide core domain 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:47,720,191...47,739,121
Ensembl chr19:47,720,423...47,739,108
JBrowse link
G Zcchc14 zinc finger CCHC-type containing 14 ISO ClinVar Annotator: match by term: Familial persistent pulmonary hypertension of the newborn ClinVar NCBI chr19:49,674,185...49,718,004
Ensembl chr19:49,674,195...49,718,029
JBrowse link
G Zdhhc7 zinc finger DHHC-type palmitoyltransferase 7 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:48,139,309...48,156,673
Ensembl chr19:48,139,527...48,156,673
JBrowse link
primary pulmonary hypertension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adora2a adenosine A2a receptor ISS OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 MouseDO NCBI chr20:13,315,848...13,333,386
Ensembl chr20:13,315,853...13,333,386
JBrowse link
G Bmpr1b bone morphogenetic protein receptor type 1B ISO ClinVar Annotator: match by term: Idiopathic pulmonary arterial hypertension ClinVar PMID:22374147 PMID:25741868 PMID:25758993 PMID:28492532 NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368
JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar Annotator: match by term: Idiopathic and/or familial pulmonary arterial hypertension
ClinVar Annotator: match by term: Pulmonary hypertension, primary, dexfenfluramine-associated
ClinVar Annotator: match by term: Pulmonary hypertension, primary, fenfluramine-associated
CTD
ClinVar
PMID:9536098 PMID:10903931 PMID:10973254 PMID:11015450 PMID:11115378 More... NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
JBrowse link
G Cav1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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 More... NCBI chr19:49,153,729...49,157,741
Ensembl chr19:49,153,699...49,157,738
JBrowse link
G Hdac1 histone deacetylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22711276 NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111
JBrowse link
G Hdac4 histone deacetylase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22711276 NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
JBrowse link
G Hdac5 histone deacetylase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22711276 NCBI chr10:87,152,978...87,187,921
Ensembl chr10:87,152,978...87,188,235
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 3:141,210,666...141,212,420
Ensembl chr 3:141,211,267...141,212,419
JBrowse link
G Kcnk3 potassium two pore domain channel subfamily K member 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:25,761,487...25,799,153
Ensembl chr 6:25,763,228...25,799,153
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISS OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 MouseDO NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
JBrowse link
G Smad9 SMAD family member 9 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:138,956,326...139,006,315
Ensembl chr 2:138,986,471...139,006,307
JBrowse link
G Tnfsf4 TNF superfamily member 4 ISS OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 MouseDO NCBI chr13:73,723,329...73,746,809
Ensembl chr13:73,723,329...73,746,788
JBrowse link
G Vip vasoactive intestinal peptide ISS OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 MouseDO NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
JBrowse link
Primary Pulmonary Hypertension, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvrl1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1
ClinVar Annotator: match by term: Primary pulmonary hypertension 1
ClinVar PMID:9245985 PMID:12700602 PMID:14684682 PMID:15024723 PMID:15879500 More... NCBI chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591
JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia
ClinVar Annotator: match by term: Primary pulmonary hypertension 1
ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1
ClinVar
OMIM
PMID:3291115 PMID:10903931 PMID:10973254 PMID:11015450 PMID:11115378 More... NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1 ClinVar PMID:16754821 PMID:18498373 PMID:23298310 PMID:24033266 PMID:25741868 More... NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
JBrowse link
G Kcna5 potassium voltage-gated channel subfamily A member 5 ISO ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1 ClinVar PMID:20018952 PMID:21685056 PMID:23861362 PMID:24068186 PMID:25076992 More... NCBI chr 4:159,354,689...159,358,173
Ensembl chr 4:159,350,097...159,357,697
JBrowse link
G Kcnk3 potassium two pore domain channel subfamily K member 3 ISO ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1 ClinVar PMID:23883380 NCBI chr 6:25,761,487...25,799,153
Ensembl chr 6:25,763,228...25,799,153
JBrowse link
G LOC120094942 small nucleolar RNA SNORD70 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension 1 ClinVar PMID:23579436 PMID:26387786 NCBI chr 9:61,125,974...61,126,060
Ensembl chr 9:61,125,974...61,126,060
JBrowse link
G LOC120094943 small nucleolar RNA SNORD70 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension 1 ClinVar PMID:23579436 PMID:26387786 NCBI chr 9:61,126,745...61,126,828
Ensembl chr 9:61,126,745...61,126,828
JBrowse link
G LOC120094946 small nucleolar RNA SNORD11 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension 1 ClinVar PMID:23579436 PMID:26387786 NCBI chr 9:61,137,715...61,137,798
Ensembl chr 9:61,137,715...61,137,798
JBrowse link
G LOC120094947 small nucleolar RNA SNORD11B ISO ClinVar Annotator: match by term: Primary pulmonary hypertension 1 ClinVar PMID:23579436 PMID:26387786 NCBI chr 9:61,137,168...61,137,247
Ensembl chr 9:61,137,168...61,137,247
JBrowse link
G Nop58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1 ClinVar PMID:23579436 PMID:26387786 NCBI chr 9:61,120,939...61,144,810
Ensembl chr 9:61,120,929...61,144,810
JBrowse link
G Smad1 SMAD family member 1 ISO ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1 ClinVar PMID:21898662 PMID:26387786 NCBI chr19:28,513,130...28,573,665
Ensembl chr19:28,513,131...28,573,651
JBrowse link
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1 ClinVar PMID:21898662 PMID:24728327 PMID:25502805 PMID:25741868 PMID:26387786 More... NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
JBrowse link
G Smad9 SMAD family member 9 ISO ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1 ClinVar NCBI chr 2:138,956,326...139,006,315
Ensembl chr 2:138,986,471...139,006,307
JBrowse link
G Tbx4 T-box transcription factor 4 ISO ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1 ClinVar PMID:25741868 PMID:31151956 NCBI chr10:70,730,686...70,760,829
Ensembl chr10:70,731,163...70,760,825
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:25741868 More... NCBI chr 2:138,956,326...139,006,315
Ensembl chr 2:138,986,471...139,006,307
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 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368
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 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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:9536098 PMID:17576681 PMID:23883380 PMID:24033266 PMID:25741868 More... NCBI chr 6:25,761,487...25,799,153
Ensembl chr 6:25,763,228...25,799,153
JBrowse link
Pulmonary Arterial Hypertension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca3 ATP binding cassette subfamily A member 3 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:15976379 PMID:17597647 PMID:18246475 PMID:18317237 PMID:18603241 More... NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745
JBrowse link
G Abi2 abl-interactor 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:61,856,379...61,904,029
Ensembl chr 9:61,827,139...61,905,699
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 More... NCBI chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591
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 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737
JBrowse link
G Aox1 aldehyde oxidase 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:59,579,621...59,658,772
Ensembl chr 9:59,579,649...59,658,770
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 chr16:9,736,390...9,829,825
Ensembl chr16:9,736,630...9,780,616
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 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368
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 More... NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
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 9:59,930,672...59,944,468
Ensembl chr 9:59,930,744...59,944,430
JBrowse link
G C2cd6 C2 calcium dependent domain containing 6 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:60,434,926...60,530,843
Ensembl chr 9:60,434,925...60,530,806
JBrowse link
G Carf calcium responsive transcription factor ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:61,502,368...61,552,433
Ensembl chr 9:61,506,956...61,550,462
JBrowse link
G Casp8 caspase 8 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
JBrowse link
G Cd28 Cd28 molecule ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
JBrowse link
G Cdh2 cadherin 2 ISO mRNA:increased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chr18:7,776,704...7,990,934
Ensembl chr18:7,776,704...7,990,167
JBrowse link
G Cdk15 cyclin-dependent kinase 15 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:60,710,787...60,803,638
Ensembl chr 9:60,711,715...60,802,777
JBrowse link
G Cflar CASP8 and FADD-like apoptosis regulator ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034
JBrowse link
G Clk1 CDC-like kinase 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:59,947,774...59,959,002
Ensembl chr 9:59,947,764...59,957,000
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Ctnnd1 catenin delta 1 ISO protein:decreased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chr 3:69,683,328...69,734,550
Ensembl chr 3:69,683,313...69,734,516
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 9:61,755,804...61,805,123
Ensembl chr 9:61,755,790...61,805,123
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 3:105,356,261...105,441,630
Ensembl chr 3:105,356,261...105,441,630
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 More... NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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 9:61,340,291...61,418,531
Ensembl chr 9:61,340,249...61,408,483
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 9:60,056,883...60,129,176
Ensembl chr 9:60,056,890...60,093,007
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 9:60,315,581...60,343,692
Ensembl chr 9:60,315,582...60,343,648
JBrowse link
G Fzd7 frizzled class receptor 7 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:60,931,433...60,934,252
Ensembl chr 9:60,930,875...60,935,781
JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
JBrowse link
G Hydin Hydin, axonemal central pair apparatus protein ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr19:38,236,996...38,583,271
Ensembl chr19:38,236,464...38,583,264
JBrowse link
G Ica1l islet cell autoantigen 1-like ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:61,410,959...61,469,884
Ensembl chr 9:61,412,091...61,470,134
JBrowse link
G Icos inducible T-cell co-stimulator ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672
JBrowse link
G Impa1 inositol monophosphatase 1 ISO RGD PMID:30604625 RGD:126781711 NCBI chr 2:91,462,781...91,484,057
Ensembl chr 2:91,462,799...91,484,313
JBrowse link
G Itga5 integrin subunit alpha 5 ISO mRNA:increased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chr 7:134,478,963...134,502,837
Ensembl chr 7:134,478,968...134,502,837
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 6:25,761,487...25,799,153
Ensembl chr 6:25,763,228...25,799,153
JBrowse link
G Kctd18 potassium channel tetramerization domain containing 18 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:59,502,220...59,566,857
Ensembl chr 9:59,502,232...59,566,857
JBrowse link
G Mpp4 MAGUK p55 scaffold protein 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:60,569,734...60,613,035
Ensembl chr 9:60,569,734...60,611,797
JBrowse link
G Nbeal1 neurobeachin-like 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:61,575,154...61,743,896
Ensembl chr 9:61,575,356...61,736,750
JBrowse link
G Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:60,129,240...60,139,452
Ensembl chr 9:60,129,154...60,139,446
JBrowse link
G Nif3l1 NGG1 interacting factor 3 like 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:59,980,101...60,001,490
Ensembl chr 9:59,979,799...60,000,131
JBrowse link
G Nop58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:61,120,939...61,144,810
Ensembl chr 9:61,120,929...61,144,810
JBrowse link
G Orc2 origin recognition complex, subunit 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:60,001,631...60,038,301
Ensembl chr 9:60,001,910...60,038,195
JBrowse link
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr  X:132,656,658...132,699,720
Ensembl chr  X:132,656,672...132,699,127
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 More... NCBI chr12:10,676,819...10,701,161
Ensembl chr12:10,676,764...10,701,066
JBrowse link
G Ppil3 peptidylprolyl isomerase like 3 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:59,966,405...59,980,147
Ensembl chr 9:59,964,919...59,979,886
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 9:61,907,476...61,990,170
Ensembl chr 9:61,907,758...61,961,209
JBrowse link
G Sgo2 shugoshin 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:59,548,605...59,573,229
Ensembl chr 9:59,548,683...59,573,229
JBrowse link
G Smad9 SMAD family member 9 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease ClinVar PMID:25741868 PMID:28492532 PMID:30029678 NCBI chr 2:138,956,326...139,006,315
Ensembl chr 2:138,986,471...139,006,307
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 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Spats2l spermatogenesis associated, serine-rich 2-like ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:59,319,949...59,493,864
Ensembl chr 9:59,320,276...59,493,967
JBrowse link
G Stradb STE20 related adaptor beta ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:60,414,182...60,433,084
Ensembl chr 9:60,414,182...60,433,084
JBrowse link
G Sumo1 small ubiquitin-like modifier 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:61,078,790...61,108,697
Ensembl chr 9:61,077,435...61,108,761
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 PMID:32860008 NCBI chr10:70,730,686...70,760,829
Ensembl chr10:70,731,163...70,760,825
JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO mRNA:increased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:60,533,348...60,569,253
Ensembl chr 9:60,535,233...60,572,567
JBrowse link
G Trak2 trafficking kinesin protein 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:60,348,531...60,414,036
Ensembl chr 9:60,350,012...60,413,996
JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO mRNA, protein:increased expression: pulmonary artery,lung: RGD PMID:25593290 RGD:38500244 NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
JBrowse link
G Vim vimentin ISO protein:increased phosphorylation:lung RGD PMID:25593290 RGD:38500244 NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
JBrowse link
G Wdr12 WD repeat domain 12 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 9:61,475,498...61,502,584
Ensembl chr 9:61,475,517...61,502,469
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 More... NCBI chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591
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 More... NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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 chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
JBrowse link
G Fis1 fission, mitochondrial 1 IEP mRNA:increased expression:lung (rat) RGD PMID:23517027 RGD:12738217 NCBI chr12:19,708,558...19,723,392
Ensembl chr12:19,708,558...19,723,377
JBrowse link
G Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25373139 NCBI chr 2:167,418,615...167,482,293
Ensembl chr 2:167,418,640...167,481,671
JBrowse link
G Hmox1 heme oxygenase 1 IEP protein:increased expression:lung RGD PMID:21296072 RGD:10755745 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Mfn2 mitofusin 2 IEP mRNA:decreased expression:lung (rat) RGD PMID:23517027 RGD:12738217 NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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 IMP RGD PMID:31264901 RGD:38599217 NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
JBrowse link
G Egln1 egl-9 family hypoxia-inducible factor 1 IEP RGD PMID:16761101 RGD:11252085 NCBI chr19:52,867,914...52,907,169
Ensembl chr19:52,869,486...52,907,777
JBrowse link
G Egln3 egl-9 family hypoxia-inducible factor 3 IEP RGD PMID:16761101 RGD:11252085 NCBI chr 6:71,650,297...71,675,766
Ensembl chr 6:71,650,297...71,675,766
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase treatment IMP RGD PMID:25063801 RGD:10449119 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 IEP mRNA:decreased expression:lung (rat) RGD PMID:19823174 RGD:4145499 NCBI chr 1:242,357,293...242,381,535
Ensembl chr 1:242,357,306...242,380,633
JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 IEP mRNA:decreased expression:lung (rat) RGD PMID:19823174 RGD:4145499 NCBI chr19:9,174,304...9,199,995
Ensembl chr19:9,174,311...9,199,994
JBrowse link
G Hpgd 15-hydroxyprostaglandin dehydrogenase IEP mRNA, protein:increased expression:lung RGD PMID:24657469 RGD:11667099 NCBI chr16:33,986,265...34,024,228
Ensembl chr16:33,986,266...34,024,228
JBrowse link
G Mfn2 mitofusin 2 IEP mRNA, protein:decreased expression:lung (rat) RGD PMID:26485208 RGD:12910856 NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
JBrowse link
G Nog noggin IEP mRNA,protein:decreased expression:lung: RGD PMID:25740156 RGD:12801489 NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
JBrowse link
G Nos3 nitric oxide synthase 3 IEP mRNA,protein:increased expression:pulmonary artery RGD PMID:9950873 RGD:11533933 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Slc39a12 solute carrier family 39 member 12 severity IMP RGD PMID:26258299 PMID:26258299 RGD:10401832, RGD:10401832 NCBI chr17:77,353,761...77,440,381
Ensembl chr17:77,353,805...77,440,353
JBrowse link
G Slc39a12em77Tja solute carrier family 39 (zinc transporter), member 12; zinc finger nuclease induced mutant 77, Timothy J. Aitman severity IMP RGD PMID:26258299 PMID:26258299 RGD:10401832, 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 7:111,804,135...111,806,457
Ensembl chr 7:111,804,183...111,806,446
JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
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 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201
JBrowse link
G Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 IEP protein:increased expression:lung RGD PMID:32209028 RGD:38549370 NCBI chr 6:16,189,000...16,224,972
Ensembl chr 6:16,188,979...16,224,971
JBrowse link
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 IEP protein:increased expression:lung RGD PMID:32209028 RGD:38549370 NCBI chr 4:102,805,495...102,866,914
Ensembl chr 4:102,805,510...102,866,911
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
RGD
PMID:24292273 PMID:32209028 PMID:32209028 RGD:38549370, RGD:38549370 NCBI chr 3:105,356,261...105,441,630
Ensembl chr 3:105,356,261...105,441,630
JBrowse link
G Erg ETS transcription factor ERG IEP
ISO
protein:decreased expression:lung RGD PMID:32209028 PMID:32209028 RGD:38549370, RGD:38549370 NCBI chr11:34,678,614...34,900,951
Ensembl chr11:34,678,618...34,845,871
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 chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Kcnk3 potassium two pore domain channel subfamily K member 3 IDA RGD PMID:32209028 RGD:38549370 NCBI chr 6:25,761,487...25,799,153
Ensembl chr 6:25,763,228...25,799,153
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 More... NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
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 3:105,356,261...105,441,630
Ensembl chr 3:105,356,261...105,441,630
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:25741868 More... NCBI chr 3:105,356,261...105,441,630
Ensembl chr 3:105,356,261...105,441,630
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      cardiovascular system disease 4539
        vascular disease 3458
          hypertension 1521
            pulmonary hypertension 317
              Dursun Syndrome 1
              Familial Cirrhosis with Pulmonary Hypertension 0
              HUPRA Syndrome 1
              Pulmonary Arterial Hypertension + 58
              Pulmonary Edema of Mountaineers 5
              Pulmonary Hypertension, Chronic Thromboembolic, without Deep Vein Thrombosis 0
              Pulmonary Hypertension, Hypoxia-Induced 20
              Rowley-Rosenberg Syndrome 0
              Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 0
              persistent fetal circulation syndrome 40
              primary pulmonary hypertension + 26
              pulmonary venoocclusive disease + 9
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      cardiovascular system disease 4539
        vascular disease 3458
          artery disease 2420
            hypertension 1521
              pulmonary hypertension 317
                Dursun Syndrome 1
                Familial Cirrhosis with Pulmonary Hypertension 0
                HUPRA Syndrome 1
                Pulmonary Arterial Hypertension + 58
                Pulmonary Edema of Mountaineers 5
                Pulmonary Hypertension, Chronic Thromboembolic, without Deep Vein Thrombosis 0
                Pulmonary Hypertension, Hypoxia-Induced 20
                Rowley-Rosenberg Syndrome 0
                Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 0
                persistent fetal circulation syndrome 40
                primary pulmonary hypertension + 26
                pulmonary venoocclusive disease + 9
paths to the root