Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26780485 NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
JBrowse link
G ACE angiotensin I converting enzyme EXP CTD Direct Evidence: marker/mechanism CTD PMID:12359135 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G ACE2 angiotensin I converting enzyme 2 EXP CTD Direct Evidence: therapeutic CTD PMID:31931441 NCBI chr  X:15,518,197...15,602,158
Ensembl chr  X:15,561,033...15,602,148
JBrowse link
G ACVRL1 activin A receptor like type 1 susceptibility
disease_progression
IAGP
EXP
ISO
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 chr12:51,906,913...51,923,361
Ensembl chr12:51,906,908...51,923,361
JBrowse link
G ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide ISO RGD PMID:20431245 RGD:5128886 NCBI chr 4:99,070,978...99,088,788
Ensembl chr 4:99,070,978...99,088,801
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO RGD PMID:19168697 RGD:5686821 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
JBrowse link
G ADM adrenomedullin IDA RGD PMID:14718403 RGD:1625305 NCBI chr11:10,305,073...10,307,397
Ensembl chr11:10,305,073...10,307,397
JBrowse link
G AGER advanced glycosylation end-product specific receptor IEP protein:increased expression:lung (human) RGD PMID:21041689 RGD:7244258 NCBI chr 6:32,180,969...32,184,380
Ensembl chr 6:32,180,968...32,184,322
JBrowse link
G AGT angiotensinogen ISO RGD PMID:21381494 RGD:5129162 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,702,523...230,714,122
JBrowse link
G AGTR1 angiotensin II receptor type 1 onset IAGP DNA:polymorphism:3' utr:1166A>C (human) RGD PMID:19332265 RGD:5147450 NCBI chr 3:148,697,871...148,743,003
Ensembl chr 3:148,697,784...148,743,008
JBrowse link
G ALAS1 5'-aminolevulinate synthase 1 ISO mRNA:increased expression:lung (rat) RGD PMID:16181105 RGD:4144185 NCBI chr 3:52,198,083...52,214,327
Ensembl chr 3:52,198,086...52,214,327
JBrowse link
G ALOX5 arachidonate 5-lipoxygenase treatment IEP
IGI
ISO
EXP
protein:increased expression:artery
CTD Direct Evidence: marker/mechanism
CTD PMID:14726295, PMID:9445303, PMID:31462075, PMID:31462075, PMID:31462075, PMID:31462075, PMID:8647941, PMID:14726295 RGD:1626154, RGD:14975304, RGD:14975304, RGD:14975304, RGD:14975304, RGD:734558, RGD:4890418 NCBI chr10:45,374,209...45,446,121
Ensembl chr10:45,374,176...45,446,119
JBrowse link
G ALOX5AP arachidonate 5-lipoxygenase activating protein IEP
ISO
protein:increased expression:artery RGD PMID:9445303, PMID:8647941 RGD:1626154, RGD:734558 NCBI chr13:30,713,485...30,764,426
Ensembl chr13:30,713,478...30,764,426
JBrowse link
G ANGPT1 angiopoietin 1 ISO protein:decreased expression:pulmonary artery RGD PMID:18073453 RGD:2316069 NCBI chr 8:107,249,482...107,497,918
Ensembl chr 8:107,249,482...107,498,055
JBrowse link
G ANGPT2 angiopoietin 2 ISO protein:increased expression:pulmonary artery (rat) RGD PMID:19712575 RGD:2314185 NCBI chr 8:6,499,632...6,563,420
Ensembl chr 8:6,499,651...6,563,409
Ensembl chr 8:6,499,651...6,563,409
JBrowse link
G APLN apelin IEP protein:decreased expression:plasma RGD PMID:16263185 RGD:1626175 NCBI chr  X:129,645,259...129,654,956
Ensembl chr  X:129,645,259...129,654,956
JBrowse link
G ARG2 arginase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24951775 NCBI chr14:67,619,920...67,651,708
Ensembl chr14:67,619,920...67,651,708
JBrowse link
G ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 treatment ISO
IDA
RGD PMID:27144451, PMID:23804254 RGD:13782086, RGD:13782089 NCBI chr12:110,281,247...110,351,093
Ensembl chr12:110,280,756...110,351,093
JBrowse link
G ATP5F1A ATP synthase F1 subunit alpha treatment ISO chronic thromboembolic pulmonary hypertension RGD PMID:21396162 RGD:13703061 NCBI chr18:46,080,248...46,104,227
Ensembl chr18:46,080,248...46,104,334
JBrowse link
G ATP5PF ATP synthase peripheral stalk subunit F6 treatment ISO mRNA, protein:increased expression:lung, plasma (rat) RGD PMID:27916219, PMID:27491388 RGD:13800892, RGD:13800894 NCBI chr21:25,724,500...25,735,653
Ensembl chr21:25,716,503...25,735,673
JBrowse link
G ATP7A ATPase copper transporting alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:24614111 NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,656...78,050,395
JBrowse link
G BCL2 BCL2 apoptosis regulator ISO protein:decreased expression:heart right ventricle RGD PMID:18441466 RGD:2293022 NCBI chr18:63,123,346...63,320,280
Ensembl chr18:63,123,346...63,320,128
JBrowse link
G BCL2L1 BCL2 like 1 treatment ISO RGD PMID:22559233 RGD:10400914 NCBI chr20:31,664,452...31,723,963
Ensembl chr20:31,664,452...31,723,989
JBrowse link
G BDKRB2 bradykinin receptor B2 ISO RGD PMID:15878794 RGD:4890453 NCBI chr14:96,204,839...96,244,164
Ensembl chr14:96,204,679...96,244,166
JBrowse link
G BIRC5 baculoviral IAP repeat containing 5 IEP
ISO
protein:increased expression:pulmonary artery RGD PMID:15931388, PMID:15931388 RGD:2293135, RGD:2293135 NCBI chr17:78,214,253...78,225,635
Ensembl chr17:78,214,186...78,225,636
JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A IEP RGD PMID:19324947 RGD:5129472 NCBI chr10:86,755,786...86,927,969
Ensembl chr10:86,756,601...86,932,838
Ensembl chr10:86,756,601...86,932,838
JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IEP RGD PMID:19324947 RGD:5129472 NCBI chr 4:94,757,955...95,158,453
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G BMPR2 bone morphogenetic protein receptor type 2 disease_progression IAGP
ISO
EXP
IEP
DNA:missense mutations (human)
protein:decreased expression:lung
CTD Direct Evidence: marker/mechanism
DNA:mutations: :multiple (human)
CTD PMID:11590841, PMID:11893684, PMID:12358323, PMID:16297860, PMID:20496075, PMID:20522807, PMID:23383100, PMID:23502781, PMID:24224048, PMID:19785764, PMID:25593290, PMID:20534176, PMID:20002458, PMID:15775752, PMID:19324947, PMID:18663089 RGD:5129239, RGD:38500244, RGD:5129237, RGD:5129238, RGD:1580076, RGD:5129472, RGD:5129474 NCBI chr 2:202,376,310...202,567,751
Ensembl chr 2:202,376,327...202,567,751
JBrowse link
G BRD4 bromodomain containing 4 EXP CTD Direct Evidence: therapeutic CTD PMID:26224795 NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545
JBrowse link
G CA9 carbonic anhydrase 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20110409 NCBI chr 9:35,673,809...35,681,159
Ensembl chr 9:35,673,918...35,681,159
JBrowse link
G CALCA calcitonin related polypeptide alpha EXP CTD Direct Evidence: therapeutic CTD PMID:1357980 NCBI chr11:14,966,668...14,972,361
Ensembl chr11:14,966,668...14,972,354
JBrowse link
G CASR calcium sensing receptor ISO protein:increased expression:pulmonary artery (rat) RGD PMID:22730443 RGD:7205669 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,683...122,291,629
Ensembl chr 3:122,183,683...122,291,629
JBrowse link
G CAV1 caveolin 1 treatment IEP
ISO
idiopathic pulmonary arterial hypertension (IPAH) RGD PMID:17470567, PMID:23538027, PMID:15353500 RGD:1625360, RGD:8662276, RGD:1581153 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,525,001...116,561,184
JBrowse link
G CAVIN1 caveolae associated protein 1 ISS OMIM:615371 MouseDO NCBI chr17:42,402,449...42,423,269
Ensembl chr17:42,402,449...42,423,256
JBrowse link
G CBLN2 cerebellin 2 precursor EXP CTD Direct Evidence: marker/mechanism CTD PMID:23502781 NCBI chr18:72,533,720...72,638,485
Ensembl chr18:72,536,680...72,638,521
JBrowse link
G CCL1 C-C motif chemokine ligand 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22507635 NCBI chr17:34,360,328...34,363,233
Ensembl chr17:34,360,328...34,363,233
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO
EXP
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 chr17:34,255,285...34,257,203
Ensembl chr17:34,255,218...34,257,203
JBrowse link
G CCL5 C-C motif chemokine ligand 5 IEP protein:increased secretion:serum (human) RGD PMID:19932032 RGD:4891440 NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
JBrowse link
G CCN2 cellular communication network factor 2 ISO protein:increased expression:pulmonary artery (rat) RGD PMID:19234054 RGD:2314535 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372
JBrowse link
G CD209 CD209 molecule IEP RGD PMID:17107989 RGD:5131187 NCBI chr19:7,739,993...7,747,534
Ensembl chr19:7,739,993...7,747,564
JBrowse link
G CD28 CD28 molecule IEP RGD PMID:19075187 RGD:5131619 NCBI chr 2:203,706,509...203,739,756
Ensembl chr 2:203,706,475...203,738,912
JBrowse link
G CD40 CD40 molecule treatment ISO RGD PMID:25998782 RGD:11344970 NCBI chr20:46,118,242...46,129,858
Ensembl chr20:46,118,278...46,129,863
JBrowse link
G CD40LG CD40 ligand ISO
EXP
protein:increased expression:serum (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:15302794, PMID:25998782 RGD:11344970 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
G CD86 CD86 molecule IEP protein:decreased expression:blood, myeloid dendritic cell (human) RGD PMID:19693657 RGD:4892293 NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139
JBrowse link
G CDH5 cadherin 5 ISO protein:decreased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chr16:66,366,657...66,404,784
Ensembl chr16:66,366,622...66,404,784
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A treatment ISO RGD PMID:24334871, PMID:24412385 RGD:10043360, RGD:10043361 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,339
Ensembl chr 6:36,676,460...36,687,339
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B treatment ISO RGD PMID:22383500 RGD:10045357 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,715,058...12,722,369
JBrowse link
G CLU clusterin ISO RGD PMID:25069740 RGD:9068424 NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700
JBrowse link
G COL1A1 collagen type I alpha 1 chain treatment ISO RGD PMID:25867313 RGD:11041577 NCBI chr17:50,184,096...50,201,649
Ensembl chr17:50,183,289...50,201,632
Ensembl chr17:50,183,289...50,201,632
JBrowse link
G COL4A1 collagen type IV alpha 1 chain treatment ISO RGD PMID:25867313 RGD:11041577 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,157
JBrowse link
G CRP C-reactive protein IEP associated with Pulmonary Disease, Chronic Obstructive RGD PMID:22333502 RGD:6482312 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G CSF3 colony stimulating factor 3 treatment IDA RGD PMID:17186992, PMID:12524378 RGD:11039432, RGD:11039539 NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
JBrowse link
G CTNND1 catenin delta 1 treatment ISO RGD PMID:25593290 RGD:38500244 NCBI chr11:57,761,802...57,819,540
Ensembl chr11:57,753,243...57,819,546
JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO
IEP
mRNA, protein:increased expression:lung
associated with Heart Defects, Congenital
RGD PMID:18630689, PMID:19948918, PMID:20869263 RGD:4891889, RGD:4891887, RGD:4891883 NCBI chr16:57,372,490...57,385,044
Ensembl chr16:57,372,477...57,385,044
JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 ISO
IAGP
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 3:39,263,494...39,281,735
Ensembl chr 3:39,263,494...39,281,735
Ensembl chr 3:39,263,494...39,281,735
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15302794 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,541...73,743,716
JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 treatment ISO RGD PMID:21294880 RGD:6480473 NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,118,149
JBrowse link
G CYBA cytochrome b-245 alpha chain ISO associated with Anoxia;mRNA, protein:increased expression:lung RGD PMID:18424632, PMID:18952568 RGD:4773907, RGD:4762683 NCBI chr16:88,643,289...88,651,079
Ensembl chr16:88,643,289...88,651,054
JBrowse link
G CYBB cytochrome b-245 beta chain treatment ISO associated with Anoxia RGD PMID:18952568, PMID:18424632 RGD:4762683, RGD:4773907 NCBI chr  X:37,780,059...37,813,461
Ensembl chr  X:37,780,059...37,813,461
Ensembl chr  X:37,780,059...37,813,461
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO mRNA,protein:increased expression:lung RGD PMID:28956952 RGD:13702097 NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536
JBrowse link
G CYP2J2 cytochrome P450 family 2 subfamily J member 2 IDA RGD PMID:20118222 RGD:7243137 NCBI chr 1:59,893,308...59,926,773
Ensembl chr 1:59,893,308...59,926,773
JBrowse link
G CYSLTR1 cysteinyl leukotriene receptor 1 ISO associated with Anoxia RGD PMID:12910720 RGD:4848274 NCBI chr  X:78,271,468...78,327,611
Ensembl chr  X:78,271,468...78,327,691
JBrowse link
G ECE1 endothelin converting enzyme 1 ISO associated with Anoxia; RGD PMID:18767389 RGD:7243939 NCBI chr 1:21,217,250...21,345,504
Ensembl chr 1:21,217,247...21,345,572
JBrowse link
G EDN1 endothelin 1 IEP
EXP
ISO
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 chr 6:12,256,463...12,297,194
Ensembl chr 6:12,290,361...12,297,194
JBrowse link
G EDN2 endothelin 2 IEP RGD PMID:10598486 RGD:1580918 NCBI chr 1:41,478,775...41,484,699
Ensembl chr 1:41,478,775...41,484,683
JBrowse link
G EDNRA endothelin receptor type A ISO
IMP
IEP
RGD PMID:20531217, PMID:15243299, PMID:18506008, PMID:20562228 RGD:4892283, RGD:1580949, RGD:4892320, RGD:4144877 NCBI chr 4:147,481,097...147,544,954
Ensembl chr 4:147,480,917...147,544,954
JBrowse link
G EDNRB endothelin receptor type B IEP
EXP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:15927975, PMID:20562228, PMID:15243299, PMID:18091567 RGD:4144877, RGD:1580949, RGD:4892289 NCBI chr13:77,895,481...77,975,527
Ensembl chr13:77,895,481...77,975,529
JBrowse link
G EGFR epidermal growth factor receptor ISO
IEP
protein:increased expression:lung, arteriole (human) RGD PMID:12896876, PMID:21492463 RGD:5131639, RGD:5131626 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
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 chr 5:138,465,479...138,469,303
Ensembl chr 5:138,465,479...138,469,303
JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24292273 NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591
JBrowse link
G ENG endoglin ISO RGD PMID:20042709 RGD:11041178 NCBI chr 9:127,815,012...127,854,773
Ensembl chr 9:127,815,013...127,854,658
Ensembl chr 9:127,815,013...127,854,658
JBrowse link
G EPAS1 endothelial PAS domain protein 1 ISO
IAGP
DNA:missense mutation:cds: 2097G>A,p.G537R(human) RGD PMID:16215633, PMID:18650473 RGD:10395375, RGD:11041573 NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697
JBrowse link
G EPHX2 epoxide hydrolase 2 ISO RGD PMID:19226702 RGD:5688731 NCBI chr 8:27,491,143...27,597,559
Ensembl chr 8:27,490,781...27,545,564
JBrowse link
G EPO erythropoietin treatment IDA RGD PMID:22559233 RGD:10400914 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700
JBrowse link
G ESR1 estrogen receptor 1 IEP RGD PMID:20081107 RGD:4892253 NCBI chr 6:151,654,148...152,129,619
Ensembl chr 6:151,656,691...152,129,619
JBrowse link
G ESR2 estrogen receptor 2 ISO RGD PMID:21700911 RGD:5508791 NCBI chr14:64,226,707...64,338,631
Ensembl chr14:64,084,232...64,338,112
JBrowse link
G F5 coagulation factor V IAGP Chronic thromboembolic pulmonary hypertension (CTEPH) RGD PMID:20182352 RGD:4892669 NCBI chr 1:169,511,951...169,586,630
Ensembl chr 1:169,511,951...169,586,588
Ensembl chr 1:169,511,951...169,586,588
JBrowse link
G FBLN5 fibulin 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12189163 NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,412...91,947,987
JBrowse link
G FGF2 fibroblast growth factor 2 ISO
IEP
mRNA:increased expression:lung RGD PMID:19197140, PMID:19197140 RGD:2315911, RGD:2315911 NCBI chr 4:122,826,708...122,898,236
Ensembl chr 4:122,826,708...122,898,236
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO RGD PMID:19197140 RGD:2315911 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FOXO1 forkhead box O1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr13:40,555,667...40,666,641
Ensembl chr13:40,555,667...40,666,641
Ensembl chr13:40,555,667...40,666,641
JBrowse link
G GATA4 GATA binding protein 4 ISO protein:increased expression:heart right ventricle RGD PMID:21059997 RGD:7207053 NCBI chr 8:11,676,931...11,760,002
Ensembl chr 8:11,676,959...11,760,002
JBrowse link
G GATA6 GATA binding protein 6 ISO
IEP
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 chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
JBrowse link
G GBA glucosylceramidase beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:12359135 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
JBrowse link
G GDF2 growth differentiation factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26801773 NCBI chr10:47,322,454...47,327,588
Ensembl chr10:47,322,454...47,327,588
JBrowse link
G GJA1 gap junction protein alpha 1 treatment ISO mRNA:increased expression:pulmonary artery RGD PMID:21414209, PMID:23321332 RGD:7207411, RGD:8662411 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
G GPR182 G protein-coupled receptor 182 ISO mRNA:increased expression:lung RGD PMID:12622928 RGD:1625768 NCBI chr12:56,993,590...56,998,447
Ensembl chr12:56,994,492...56,998,447
JBrowse link
G HAS1 hyaluronan synthase 1 ISO RGD PMID:19915162 RGD:9588633 NCBI chr19:51,713,112...51,723,991
Ensembl chr19:51,713,112...51,723,994
Ensembl chr19:51,713,112...51,723,994
JBrowse link
G HAS2 hyaluronan synthase 2 ISO mRNA:increased expression:lung RGD PMID:19915162 RGD:9588633 NCBI chr 8:121,612,116...121,641,440
Ensembl chr 8:121,612,116...121,641,440
JBrowse link
G HAS3 hyaluronan synthase 3 ISO mRNA:decreased expression:lung RGD PMID:19915162 RGD:9588633 NCBI chr16:69,105,653...69,118,719
Ensembl chr16:69,105,653...69,118,719
JBrowse link
G HDAC1 histone deacetylase 1 IEP
ISO
protein:increased expression:lung: RGD PMID:22711276, PMID:22711276 RGD:9590133, RGD:9590133 NCBI chr 1:32,292,083...32,333,628
Ensembl chr 1:32,292,083...32,333,635
JBrowse link
G HDAC2 histone deacetylase 2 IEP protein:decreased expression:lung: RGD PMID:22711276 RGD:9590133 NCBI chr 6:113,933,028...113,971,148
Ensembl chr 6:113,933,028...114,011,308
JBrowse link
G HDAC3 histone deacetylase 3 IEP protein:decreased expression:lung: RGD PMID:22711276 RGD:9590133 NCBI chr 5:141,620,881...141,636,849
Ensembl chr 5:141,620,876...141,636,849
JBrowse link
G HDAC4 histone deacetylase 4 IEP protein:increased expression:lung: RGD PMID:22711276 RGD:9590133 NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654
JBrowse link
G HDAC5 histone deacetylase 5 IEP
ISO
protein:increased expression:lung: RGD PMID:22711276, PMID:22711276 RGD:9590133, RGD:9590133 NCBI chr17:44,076,753...44,123,651
Ensembl chr17:44,076,746...44,123,702
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO
EXP
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 chr14:61,695,513...61,748,259
Ensembl chr14:61,695,513...61,748,259
JBrowse link
G HIF3A hypoxia inducible factor 3 subunit alpha ISO RGD PMID:16215633 RGD:10395375 NCBI chr19:46,297,042...46,343,433
Ensembl chr19:46,297,046...46,343,433
JBrowse link
G HK1 hexokinase 1 ISO mRNA:increased expression:lung RGD PMID:25767292 RGD:11353880 NCBI chr10:69,269,991...69,401,882
Ensembl chr10:69,269,984...69,401,884
JBrowse link
G HMGB1 high mobility group box 1 treatment ISO RGD PMID:25032709 RGD:10402082 NCBI chr13:30,456,704...30,617,597
Ensembl chr13:30,456,704...30,617,597
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:12750068 RGD:5508701 NCBI chr 5:75,336,334...75,362,116
Ensembl chr 5:75,336,329...75,362,101
JBrowse link
G HMOX1 heme oxygenase 1 ISO
IDA
RGD PMID:14970910, PMID:20957739, PMID:19409105, PMID:20957739 RGD:1582715, RGD:4145325, RGD:4145307, RGD:4145325 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,207
JBrowse link
G HP haptoglobin treatment IEP
IDA
protein:decreased expression:serum RGD PMID:2043024, PMID:25656991, PMID:19023114, PMID:19703762 RGD:1626353, RGD:11041794, RGD:5147440, RGD:5147420 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
JBrowse link
G HPGD 15-hydroxyprostaglandin dehydrogenase IEP mRNA, protein:increased expression:lung RGD PMID:24657469 RGD:11667099 NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154
JBrowse link
G HTR2B 5-hydroxytryptamine receptor 2B EXP CTD Direct Evidence: marker/mechanism CTD PMID:14659797 NCBI chr 2:231,108,230...231,126,172
Ensembl chr 2:231,108,230...231,125,042
JBrowse link
G HYAL1 hyaluronidase 1 ISO mRNA:decreased expression:lung RGD PMID:19915162 RGD:9588633 NCBI chr 3:50,299,889...50,312,951
Ensembl chr 3:50,299,890...50,312,381
JBrowse link
G HYAL2 hyaluronidase 2 ISO mRNA:decreased expression:lung RGD PMID:19915162 RGD:9588633 NCBI chr 3:50,317,802...50,322,768
Ensembl chr 3:50,317,790...50,322,782
JBrowse link
G ICAM1 intercellular adhesion molecule 1 IEP associated with Heart Defects, Congenital;protein:increased secretion:serum (human) RGD PMID:21034646 RGD:4145436 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
JBrowse link
G ID1 inhibitor of DNA binding 1, HLH protein ISO RGD PMID:20522807 RGD:9686087 NCBI chr20:31,605,289...31,606,510
Ensembl chr20:31,605,283...31,606,515
JBrowse link
G IFNGR1 interferon gamma receptor 1 IEP mRNA: increased expression RGD PMID:20808962 RGD:4892610 NCBI chr 6:137,197,484...137,220,351
Ensembl chr 6:137,197,484...137,219,449
Ensembl chr 6:137,197,484...137,219,449
JBrowse link
G IL10 interleukin 10 disease_progression IEP protein:increased expression:serum RGD PMID:20713898 RGD:4142530 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL13 interleukin 13 IEP 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 chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
JBrowse link
G IL13RA1 interleukin 13 receptor subunit alpha 1 ISO
IEP
RGD PMID:20671265, PMID:20808962 RGD:4892611, RGD:4892610 NCBI chr  X:118,726,954...118,794,533
Ensembl chr  X:118,727,133...118,794,535
JBrowse link
G IL13RA2 interleukin 13 receptor subunit alpha 2 IEP mRNA:increased expression:lung RGD PMID:20522789 RGD:4892612 NCBI chr  X:115,003,982...115,017,616
Ensembl chr  X:115,003,975...115,019,977
JBrowse link
G IL18 interleukin 18 ISO RGD PMID:17400729 RGD:4889590 NCBI chr11:112,143,251...112,164,104
Ensembl chr11:112,143,253...112,164,096
JBrowse link
G IL1B interleukin 1 beta IEP associated with Scleroderma, Limited;protein:increased expression:serum RGD PMID:20808962, PMID:20713898 RGD:4892610, RGD:4142530 NCBI chr 2:112,829,751...112,836,843
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL1RN interleukin 1 receptor antagonist IDA RGD PMID:7946395 RGD:4143197 NCBI chr 2:113,099,365...113,134,016
Ensembl chr 2:113,107,214...113,134,016
JBrowse link
G IL23R interleukin 23 receptor IAGP associated with Scleroderma, Systemic;DNA:SNPs: :rs11209026, rs11465804 (human) RGD PMID:19918037 RGD:5096624 NCBI chr 1:67,138,639...67,259,979
Ensembl chr 1:67,138,907...67,259,979
JBrowse link
G IL4 interleukin 4 ISO RGD PMID:20889544 RGD:5128515 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
JBrowse link
G IL6 interleukin 6 disease_progression IEP
ISO
RGD PMID:20713898, PMID:20693255 RGD:4142530, RGD:4143246 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G KCNA5 potassium voltage-gated channel subfamily A member 5 IAGP
EXP
ISO
IEP
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 chr12:5,043,879...5,046,788
Ensembl chr12:5,043,879...5,046,788
JBrowse link
G KCNK3 potassium two pore domain channel subfamily K member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30365877 NCBI chr 2:26,692,722...26,733,420
Ensembl chr 2:26,692,690...26,733,420
JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28090300 NCBI chr10:76,869,602...77,637,969
Ensembl chr10:76,869,601...77,638,369
JBrowse link
G LEPR leptin receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:30689673 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
JBrowse link
G LOX lysyl oxidase EXP CTD Direct Evidence: marker/mechanism CTD PMID:24614111 NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,360
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 treatment IDA RGD PMID:25907942 RGD:13800893 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,754,500...21,867,680
Ensembl chr22:21,754,500...21,867,680
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 treatment IDA RGD PMID:25907942 RGD:13800893 NCBI chr16:30,114,105...30,123,309
Ensembl chr16:30,114,105...30,123,506
JBrowse link
G MFN1 mitofusin 1 ISO protein:decreased expression:heart right ventricle (rat) RGD PMID:27422986 RGD:12910832 NCBI chr 3:179,347,709...179,394,936
Ensembl chr 3:179,347,709...179,394,936
JBrowse link
G MIF macrophage migration inhibitory factor IEP associated with sclerodema, systemic; protein:increased expression:serum RGD PMID:18618071 RGD:4891006 NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227
JBrowse link
G MIR125A microRNA 125a treatment ISO RGD PMID:29700287 RGD:26884455 NCBI chr19:51,693,254...51,693,339
Ensembl chr19:51,693,254...51,693,339
JBrowse link
G MIR204 microRNA 204 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26224795 NCBI chr 9:70,809,975...70,810,084
Ensembl chr 9:70,809,975...70,810,084
JBrowse link
G MIR223 microRNA 223 treatment ISO
IEP
associated with 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:66,018,870...66,018,979
Ensembl chr  X:66,018,870...66,018,979
JBrowse link
G MMP1 matrix metallopeptidase 1 ISO RGD PMID:23087098 RGD:7207217 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,919...102,798,160
JBrowse link
G MMP9 matrix metallopeptidase 9 severity IMP
ISO
IEP
associated with Heart Failure, Congestive;protein:decreased expression:monocyte
associated with Pulmonary Embolism;protein:increased expression:lung, plasma
RGD PMID:21063214, PMID:23087098, PMID:16867026, PMID:17133179, PMID:18355767 RGD:5129210, RGD:7207217, RGD:1642028, RGD:1642053, RGD:5130155 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO RGD PMID:23470622 RGD:10041039 NCBI chr 1:11,106,535...11,273,497
Ensembl chr 1:11,106,535...11,262,551
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor treatment ISO RGD PMID:22306243 RGD:7240564 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
JBrowse link
G NAMPT nicotinamide phosphoribosyltransferase susceptibility IEP
ISO
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 7:106,248,298...106,284,983
Ensembl chr 7:106,248,298...106,286,326
JBrowse link
G NFATC2 nuclear factor of activated T cells 2 ISO
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:27522126, PMID:17596340 RGD:1627651 NCBI chr20:51,386,963...51,562,857
Ensembl chr20:51,386,957...51,562,831
JBrowse link
G NOS2 nitric oxide synthase 2 onset IEP
ISO
IAGP
associated with heart disease; protein:increased expression:endothelial cell
associated with Anoxia; protein:increased expression:pulmonary artery
associated with Congenital diaphragmatic hernia; protein:decreased expression:pulmonary artery, endothelium
associated with Scleroderma, Systemic; DNA:repeats, SNPs:promoter:(CCTTT), c.-1026C>T, c.-277A>G (human)
associated with Anoxia; mouse gene in rat model
RGD PMID:19912632, PMID:16113050, PMID:16456243, PMID:16813666, PMID:11104748 RGD:5132602, RGD:1580936, RGD:1580940, RGD:4891462, RGD:4891468 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
JBrowse link
G NOS3 nitric oxide synthase 3 treatment
susceptibility
IEP
EXP
ISO
IAGP
associated with heart disease; protein:increased expression:endothelial cell
CTD Direct Evidence: marker/mechanism
associated with Beta-Thalassemia;DNA:repeats:intron:
mRNA, protein:increased expression:pulmonary endothelial cell
RNA:increased expression:lung
DNA:polymorphism:cds:p.E298D (human)
associated with chronic obstructive pulmonary disease; DNA:polymorphism:cds:p.G894T (human)
protein:increased expression:arteriole
CTD PMID:21144100, PMID:19912632, PMID:29151278, PMID:25699607, PMID:20724942, PMID:11686901, PMID:21144100, PMID:19487814, PMID:18953956, PMID:17065228, PMID:20215577, PMID:21111729 RGD:5132602, RGD:13504742, RGD:11533642, RGD:4892004, RGD:5132631, RGD:4892009, RGD:4892039, RGD:4892042, RGD:4892043, RGD:4892038, RGD:4892010 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G NOX4 NADPH oxidase 4 ISO associated with Anoxia;mRNA, protein:increased expression:lung RGD PMID:18952568 RGD:4762683 NCBI chr11:89,324,353...89,589,557
Ensembl chr11:89,324,353...89,498,187
JBrowse link
G NPPA natriuretic peptide A ISO RGD PMID:2136863 RGD:7247720 NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345
JBrowse link
G NPPB natriuretic peptide B severity IEP
EXP
ISO
protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
CTD PMID:20408845, PMID:21351102, PMID:16893710, PMID:16936438 RGD:1642205, RGD:1642203 NCBI chr 1:11,857,464...11,858,945
Ensembl chr 1:11,857,464...11,858,945
JBrowse link
G PDE3A phosphodiesterase 3A ISO mRNA:increased expression:pulmonary artery RGD PMID:12466227 RGD:1582528 NCBI chr12:20,368,537...20,688,583
Ensembl chr12:20,368,537...20,688,583
Ensembl chr12:20,368,537...20,688,583
JBrowse link
G PDE5A phosphodiesterase 5A ISO RGD PMID:19881228 RGD:2314460 NCBI chr 4:119,494,403...119,628,804
Ensembl chr 4:119,494,397...119,628,804
JBrowse link
G PDGFA platelet derived growth factor subunit A ISO RGD PMID:8447423 RGD:1580847 NCBI chr 7:497,245...520,668
Ensembl chr 7:497,258...520,296
JBrowse link
G PDGFB platelet derived growth factor subunit B ISO
IEP
RGD PMID:8447423, PMID:21819559, PMID:22523431 RGD:1580847, RGD:6482859, RGD:6482831 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
JBrowse link
G PDIA3 protein disulfide isomerase family A member 3 ISO protein:increased expression:lung: RGD PMID:23315792 RGD:9999167 NCBI chr15:43,746,438...43,773,278
Ensembl chr15:43,746,410...43,773,278
JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 treatment ISO RGD PMID:22559233 RGD:10400914 NCBI chr17:64,319,415...64,413,844
Ensembl chr17:64,319,415...64,413,776
JBrowse link
G PGF placental growth factor IEP associated with Anemia, Sickle Cell;protein:increased expression:plasma
associated with Heart Defects, Congenital
RGD PMID:20040765, PMID:20195855 RGD:6483588, RGD:6483610 NCBI chr14:74,941,830...74,955,764
Ensembl chr14:74,941,834...74,955,626
JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component IAGP ClinVar Annotator: match by term: Pulmonary hypertension ClinVar PMID:16144131, PMID:16283678, PMID:18602922, PMID:19283792, PMID:20205264, PMID:21239990, PMID:22658618, PMID:23012243, PMID:24033266, PMID:25525159, PMID:25637381, PMID:25741868, PMID:26467025, PMID:26895986, PMID:28492532, PMID:29489754 NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,106
JBrowse link
G PRKG1 protein kinase cGMP-dependent 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21351102 NCBI chr10:50,990,888...52,298,350
Ensembl chr10:50,990,888...52,298,423
JBrowse link
G PTGIS prostaglandin I2 synthase susceptibility ISO rat gene in a mouse model RGD PMID:15684702, PMID:10359560 RGD:1580695, RGD:727270 NCBI chr20:49,503,874...49,568,137
Ensembl chr20:49,503,874...49,568,137
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO anoxia associated; RGD PMID:18542928, PMID:19577709 RGD:2300276, RGD:5135495 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,423
JBrowse link
G PTK2 protein tyrosine kinase 2 IAGP RGD PMID:16244766 RGD:1581290 NCBI chr 8:140,657,900...141,002,079
Ensembl chr 8:140,657,900...141,002,216
JBrowse link
G RAMP2 receptor activity modifying protein 2 ISO mRNA:increased expression:heart right ventricle RGD PMID:17437045 RGD:1642678 NCBI chr17:42,761,227...42,763,041
Ensembl chr17:42,758,447...42,763,041
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO protein:altered localization:nucleus, blood vessel endothelial cell, lung RGD PMID:17934115 RGD:2298843 NCBI chr11:65,653,601...65,662,946
Ensembl chr11:65,653,597...65,663,090
JBrowse link
G RHOA ras homolog family member A ISO protein:altered localization:pulmonary artery
protein:altered localization:membrane, artery, lung
RGD PMID:16322374, PMID:18091588 RGD:1642819, RGD:2298877 NCBI chr 3:49,359,145...49,411,976
Ensembl chr 3:49,359,145...49,412,998
JBrowse link
G SERPINA1 serpin family A member 1 IEP
ISO
protein:decreased expression:serum RGD PMID:17444595, PMID:1836309 RGD:1643144, RGD:1643154 NCBI chr14:94,376,747...94,390,654
Ensembl chr14:94,376,747...94,390,693
JBrowse link
G SERPINE1 serpin family E member 1 treatment IAGP
ISO
IEP
DNA:polymorphism:3'utr
mRNA, protein:decreased expression:lung
RGD PMID:20300292, PMID:27115515, PMID:18337154 RGD:4143527, RGD:11073610, RGD:4143529 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
G SLC2A4 solute carrier family 2 member 4 ISO RGD PMID:19043358 RGD:2313622 NCBI chr17:7,281,718...7,288,257
Ensembl chr17:7,281,718...7,288,257
JBrowse link
G SLC31A1 solute carrier family 31 member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24614111 NCBI chr 9:113,221,544...113,264,492
Ensembl chr 9:113,221,544...113,264,492
JBrowse link
G SLC6A4 solute carrier family 6 member 4 severity
no_association
onset
ISO
EXP
IAGP
IMP
CTD Direct Evidence: marker/mechanism
associated with Heart Septal Defects, Ventricular;DNA:polymorphisms (human)
associated with Anoxia
associated with Pulmonary Disease, Chronic Obstructive;DNA:polymorphism (human)
DNA:polymorphism, repeat:promoter, intron (human)
DNA:repeat:promoter (human)
CTD PMID:18506000, PMID:18074800, PMID:19886858, PMID:11259539, PMID:19736308, PMID:19556740, PMID:16399993, PMID:19736308, PMID:19473340, PMID:16339917 RGD:4889437, RGD:4889430, RGD:4889445, RGD:4889432, RGD:4889434, RGD:4889440, RGD:4889432, RGD:4889435, RGD:4889442 NCBI chr17:30,194,319...30,235,697
Ensembl chr17:30,194,319...30,236,002
JBrowse link
G SLC8A1 solute carrier family 8 member A1 IEP protein:increased expression:pulmonary artery, smooth muscle cell RGD PMID:17192285 RGD:1642711 NCBI chr 2:40,094,523...40,512,452
Ensembl chr 2:40,097,270...40,611,053
JBrowse link
G SMAD1 SMAD family member 1 ISO protein:decreased phosphorylation:lung, vascular associated smooth muscle cell
protein:decreased expression, increased phosphorylation:lung
RGD PMID:17347486, PMID:18367643 RGD:1643222, RGD:12903274 NCBI chr 4:145,481,306...145,559,176
Ensembl chr 4:145,481,194...145,559,176
JBrowse link
G SMAD4 SMAD family member 4 ISO RGD PMID:17347486, PMID:18367643 RGD:1643222, RGD:12903274 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045
JBrowse link
G SMAD6 SMAD family member 6 ISO mRNA:decreased expression:lung RGD PMID:17347486 RGD:1643222 NCBI chr15:66,702,110...66,782,849
Ensembl chr15:66,702,236...66,782,849
JBrowse link
G SMAD7 SMAD family member 7 ISO RGD PMID:17347486 RGD:1643222 NCBI chr18:48,919,853...48,950,711
Ensembl chr18:48,919,853...48,952,052
JBrowse link
G SMAD9 SMAD family member 9 ISO RGD PMID:17347486 RGD:1643222 NCBI chr13:36,844,831...36,920,721
Ensembl chr13:36,844,831...36,920,765
JBrowse link
G SMPD3 sphingomyelin phosphodiesterase 3 treatment ISO RGD PMID:19088082 RGD:10042965 NCBI chr16:68,358,327...68,448,703
Ensembl chr16:68,358,327...68,448,508
JBrowse link
G SOD2 superoxide dismutase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20110409 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
Ensembl chr 6:159,669,069...159,762,529
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G TAC1 tachykinin precursor 1 ISO RGD PMID:12662901 RGD:5147638 NCBI chr 7:97,732,086...97,740,472
Ensembl chr 7:97,732,084...97,740,472
JBrowse link
G TACR1 tachykinin receptor 1 ISO RGD PMID:12662901 RGD:5147638 NCBI chr 2:75,046,463...75,199,520
Ensembl chr 2:75,046,463...75,199,520
JBrowse link
G TACR2 tachykinin receptor 2 ISO RGD PMID:12662901 RGD:5147638 NCBI chr10:69,403,903...69,416,918
Ensembl chr10:69,403,903...69,416,918
JBrowse link
G TEK TEK receptor tyrosine kinase IEP mRNA, protein:increased expression:lung RGD PMID:16917117 RGD:1601487 NCBI chr 9:27,109,141...27,230,178
Ensembl chr 9:27,109,141...27,230,174
JBrowse link
G TERT telomerase reverse transcriptase treatment ISO
IEP
RGD PMID:24376652, PMID:24376652 RGD:11038675, RGD:11038675 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TGFA transforming growth factor alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:18424623 NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193
JBrowse link
G TGFB1 transforming growth factor beta 1 onset IAGP
IEP
DNA:SNPs: :multiple (human)
protein:increased expression:blood
RGD PMID:18496036, PMID:19324949 RGD:4145273, RGD:4145138 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 ISO RGD PMID:18202349 RGD:2302019 NCBI chr 9:99,104,038...99,154,192
Ensembl chr 9:99,104,038...99,154,192
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO mRNA:decreased expression:lung RGD PMID:17392319 RGD:1601116 NCBI chr 3:30,606,472...30,694,142
Ensembl chr 3:30,606,601...30,694,142
Ensembl chr 3:30,606,601...30,694,142
JBrowse link
G THBD thrombomodulin IEP associated with Mixed Connective Tissue Disease RGD PMID:16784493 RGD:1601639 NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
JBrowse link
G THPO thrombopoietin IEP protein:increased expression:pulmonary artery, plasma RGD PMID:12487786 RGD:1580087 NCBI chr 3:184,371,935...184,379,688
Ensembl chr 3:184,371,935...184,381,968
JBrowse link
G TLR4 toll like receptor 4 ISO associated anoxia RGD PMID:20205596 RGD:4144108 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
G TNC tenascin C severity ISO
IEP
protein:increased expression:plasma RGD PMID:19288153, PMID:20528622, PMID:16782755, PMID:15879421 RGD:4889564, RGD:4889562, RGD:4889567, RGD:4889570 NCBI chr 9:115,019,575...115,118,244
Ensembl chr 9:115,019,575...115,118,257
JBrowse link
G TNF tumor necrosis factor IEP
EXP
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 chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TP53 tumor protein p53 treatment ISO RGD PMID:24334871 RGD:10043360 NCBI chr17:7,668,402...7,687,550
Ensembl chr17:7,661,779...7,687,538
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G TP53BP1 tumor protein p53 binding protein 1 IEP protein:increased expression:lung RGD PMID:24270264 RGD:9586752 NCBI chr15:43,403,061...43,510,640
Ensembl chr15:43,403,061...43,510,728
JBrowse link
G TPH1 tryptophan hydroxylase 1 severity ISO
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:18506000, PMID:17675372 RGD:5686352 NCBI chr11:18,017,555...18,046,269
Ensembl chr11:18,017,564...18,042,426
JBrowse link
G TPH2 tryptophan hydroxylase 2 severity ISO DNA:SNP: :1473C>G (mouse) RGD PMID:17675372 RGD:5686352 NCBI chr12:71,938,845...72,032,440
Ensembl chr12:71,938,845...72,186,618
JBrowse link
G TRPC3 transient receptor potential cation channel subfamily C member 3 IEP RGD PMID:15358862 RGD:1580490 NCBI chr 4:121,874,481...121,952,060
Ensembl chr 4:121,874,481...121,952,060
JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 IEP RGD PMID:15358862 RGD:1580490 NCBI chr11:101,451,470...101,584,007
Ensembl chr11:101,451,564...101,872,562
JBrowse link
G TWIST1 twist family bHLH transcription factor 1 treatment ISO RGD PMID:25593290 RGD:38500244 NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636
JBrowse link
G UTS2 urotensin 2 ISO RGD PMID:15042392 RGD:2306848 NCBI chr 1:7,846,345...7,913,615
Ensembl chr 1:7,843,083...7,853,512
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO protein:increased expression:blood vessel endothelium RGD PMID:17934115 RGD:2298843 NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045
JBrowse link
G VEGFB vascular endothelial growth factor B IDA RGD PMID:12547729 RGD:1625708 NCBI chr11:64,234,584...64,239,264
Ensembl chr11:64,234,538...64,238,793
JBrowse link
G VIM vimentin ISO protein:increased expression, increased phosphorylation:lung RGD PMID:25593290 RGD:38500244 NCBI chr10:17,228,241...17,237,593
Ensembl chr10:17,228,241...17,237,593
JBrowse link
G VIP vasoactive intestinal peptide ISO RGD PMID:22140628 RGD:5685374 NCBI chr 6:152,750,797...152,759,765
Ensembl chr 6:152,750,797...152,759,765
JBrowse link
G VWF von Willebrand factor IDA RGD PMID:14507115 RGD:1580645 NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770
Ensembl chr12:5,948,877...6,124,770
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 IAGP ClinVar Annotator: match by term: Dursun syndrome ClinVar PMID:19011569, PMID:20799326, PMID:25741868 NCBI chr17:44,070,673...44,076,344
Ensembl chr17:44,070,735...44,076,344
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 IAGP ClinVar Annotator: match by term: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME
ClinVar Annotator: match by term: HUPRA SYNDROME
ClinVar
OMIM
PMID:21255763, PMID:28492532 NCBI chr19:38,915,266...38,930,763
Ensembl chr19:38,915,266...38,930,896
Ensembl chr19:38,915,266...38,930,896
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 IAGP
EXP
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 2:210,477,685...210,679,107
Ensembl chr 2:210,477,682...210,679,107
JBrowse link
persistent fetal circulation syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AC009123.1 novel transcript, antisense to ADAD2 IAGP ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:84,192,558...84,197,053
Ensembl chr16:84,192,558...84,197,053
JBrowse link
G ADAD2 adenosine deaminase domain containing 2 IAGP ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:84,191,157...84,197,166
Ensembl chr16:84,191,138...84,197,168
JBrowse link
G ATP2C2 ATPase secretory pathway Ca2+ transporting 2 IAGP ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:84,368,523...84,465,777
Ensembl chr16:84,368,527...84,464,187
JBrowse link
G C16orf74 chromosome 16 open reading frame 74 IAGP ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:85,707,517...85,751,096
Ensembl chr16:85,690,084...85,751,129
JBrowse link
G CIBAR2 CBY1 interacting BAR domain containing 2 IAGP ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:85,098,358...85,112,508
Ensembl chr16:85,098,358...85,112,472
JBrowse link
G COTL1 coactosin like F-actin binding protein 1 IAGP ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:84,565,596...84,618,078
Ensembl chr16:84,565,596...84,618,078
JBrowse link
G COX4I1 cytochrome c oxidase subunit 4I1 IAGP ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:85,799,695...85,807,068
Ensembl chr16:85,798,633...85,807,068
Ensembl chr16:85,798,633...85,807,068
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 IAGP
EXP
CACD, OMIM:265380, DNA:polymorphism:T1405N
CTD Direct Evidence: marker/mechanism
CTD PMID:11407344, PMID:11407344 RGD:1600716 NCBI chr 2:210,477,685...210,679,107
Ensembl chr 2:210,477,682...210,679,107
JBrowse link
G CRISPLD2 cysteine rich secretory protein LCCL domain containing 2 IAGP ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:84,819,981...84,909,510
Ensembl chr16:84,819,985...84,920,768
JBrowse link
G DNAAF1 dynein axonemal assembly factor 1 IAGP ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:84,145,266...84,178,761
Ensembl chr16:84,145,287...84,178,767
JBrowse link
G EMC8 ER membrane protein complex subunit 8 IAGP ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:85,778,624...85,799,555
Ensembl chr16:85,771,758...85,799,608
JBrowse link
G FENDRR FOXF1 adjacent non-coding developmental regulatory RNA IAGP ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar PMID:25741868 NCBI chr16:86,474,525...86,508,860
Ensembl chr16:86,474,529...86,509,099
JBrowse link
G FOXF1 forkhead box F1 IAGP ClinVar Annotator: match by term: Alveolar capillary dysplasia with misalignment of pulmonary veins
ClinVar Annotator: match by term: Persistent fetal circulation syndrome
ClinVar
OMIM
PMID:15520767, PMID:19500772, PMID:23505205, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30380203 NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422
JBrowse link
G GINS2 GINS complex subunit 2 IAGP ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:85,676,198...85,688,954
Ensembl chr16:85,676,198...85,690,073
JBrowse link
G GSE1 Gse1 coiled-coil protein IAGP ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:85,169,512...85,676,200
Ensembl chr16:85,169,525...85,676,204
JBrowse link
G HSDL1 hydroxysteroid dehydrogenase like 1 IAGP ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:84,122,141...84,145,177
Ensembl chr16:84,122,141...84,145,192
JBrowse link
G IRF8 interferon regulatory factor 8 IAGP ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:85,899,162...85,922,609
Ensembl chr16:85,899,162...85,922,606
JBrowse link
G KCNG4 potassium voltage-gated channel modifier subfamily G member 4 IAGP ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:84,221,135...84,239,750
Ensembl chr16:84,218,667...84,239,750
JBrowse link
G KIAA0513 KIAA0513 IAGP ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:85,027,709...85,094,230
Ensembl chr16:85,027,751...85,094,230
JBrowse link
G KLHL36 kelch like family member 36 IAGP ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:84,648,511...84,667,686
Ensembl chr16:84,648,511...84,667,686
JBrowse link
G LINC01082 long intergenic non-protein coding RNA 1082 IAGP ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:86,196,181...86,199,720
Ensembl chr16:86,195,954...86,199,720
JBrowse link
G MBTPS1 membrane bound transcription factor peptidase, site 1 IAGP ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:84,053,763...84,116,942
Ensembl chr16:84,053,761...84,116,942
JBrowse link
G MEAK7 MTOR associated protein, eak-7 homolog IAGP ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:84,476,355...84,504,708
Ensembl chr16:84,476,355...84,554,033
JBrowse link
G MLYCD malonyl-CoA decarboxylase IAGP ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:83,899,115...83,927,031
Ensembl chr16:83,899,115...83,951,445
JBrowse link
G NECAB2 N-terminal EF-hand calcium binding protein 2 IAGP ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:83,968,244...84,002,776
Ensembl chr16:83,968,632...84,002,776
JBrowse link
G NOS3 nitric oxide synthase 3 ISS OMIM:265380 MouseDO NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G OSGIN1 oxidative stress induced growth inhibitor 1 IAGP ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:83,953,240...83,966,332
Ensembl chr16:83,931,311...83,966,332
JBrowse link
G PTEN phosphatase and tensin homolog ISS OMIM:265380 MouseDO NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,863,625...87,971,930
JBrowse link
G SLC38A8 solute carrier family 38 member 8 IAGP ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:84,009,667...84,043,372
Ensembl chr16:84,009,667...84,042,795
Ensembl chr16:84,009,667...84,042,795
JBrowse link
G STRA6 signaling receptor and transporter of retinol STRA6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17273977 NCBI chr15:74,179,466...74,212,267
Ensembl chr15:74,179,466...74,212,267
JBrowse link
G TAF1C TATA-box binding protein associated factor, RNA polymerase I subunit C IAGP ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:84,177,852...84,187,065
Ensembl chr16:84,177,847...84,187,070
JBrowse link
G USP10 ubiquitin specific peptidase 10 IAGP ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:84,699,977...84,779,922
Ensembl chr16:84,699,986...84,779,922
Ensembl chr16:84,699,986...84,779,922
JBrowse link
G WFDC1 WAP four-disulfide core domain 1 IAGP ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:84,292,233...84,329,850
Ensembl chr16:84,294,846...84,329,844
JBrowse link
G ZDHHC7 zinc finger DHHC-type palmitoyltransferase 7 IAGP ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:84,974,175...85,011,535
Ensembl chr16:84,974,181...85,011,535
Ensembl chr16:84,974,181...85,011,535
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 IAGP 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 chr12:51,906,913...51,923,361
Ensembl chr12:51,906,908...51,923,361
JBrowse link
G ADORA2A adenosine A2a receptor ISS OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 MouseDO NCBI chr22:24,423,597...24,442,357
Ensembl chr22:24,417,879...24,442,357
JBrowse link
G AL162586.1 novel transcript IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:18498373, PMID:23298310, PMID:24033266, PMID:25741868, PMID:26167679, PMID:26387786, PMID:28492532, PMID:30029678 NCBI chr 9:127,816,066...127,822,520
Ensembl chr 9:127,816,066...127,822,520
JBrowse link
G BMPR2 bone morphogenetic protein receptor type 2 IAGP
EXP
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
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia
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 2:202,376,310...202,567,751
Ensembl chr 2:202,376,327...202,567,751
JBrowse link
G CAV1 caveolin 1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,525,001...116,561,184
JBrowse link
G ENG endoglin IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:18498373, PMID:23298310, PMID:24033266, PMID:25741868, PMID:26167679, PMID:26387786, PMID:28492532, PMID:30029678 NCBI chr 9:127,815,012...127,854,773
Ensembl chr 9:127,815,013...127,854,658
Ensembl chr 9:127,815,013...127,854,658
JBrowse link
G FOXF1 forkhead box F1 IAGP 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 chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422
JBrowse link
G HDAC1 histone deacetylase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22711276 NCBI chr 1:32,292,083...32,333,628
Ensembl chr 1:32,292,083...32,333,635
JBrowse link
G HDAC4 histone deacetylase 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22711276 NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654
JBrowse link
G HDAC5 histone deacetylase 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22711276 NCBI chr17:44,076,753...44,123,651
Ensembl chr17:44,076,746...44,123,702
JBrowse link
G ID1 inhibitor of DNA binding 1, HLH protein IEP protein:decreased expression:lung, wall of arteriole (human) RGD PMID:20522807 RGD:9686087 NCBI chr20:31,605,289...31,606,510
Ensembl chr20:31,605,283...31,606,515
JBrowse link
G KCNA5 potassium voltage-gated channel subfamily A member 5 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:20018952, PMID:21685056, PMID:23861362, PMID:24068186, PMID:25076992, PMID:28492532 NCBI chr12:5,043,879...5,046,788
Ensembl chr12:5,043,879...5,046,788
JBrowse link
G KCNK3 potassium two pore domain channel subfamily K member 3 IAGP
EXP
ClinVar Annotator: match by term: Primary pulmonary hypertension
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:23883380 NCBI chr 2:26,692,722...26,733,420
Ensembl chr 2:26,692,690...26,733,420
JBrowse link
G NOP58 NOP58 ribonucleoprotein IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:23579436, PMID:26387786 NCBI chr 2:202,265,763...202,303,661
Ensembl chr 2:202,265,736...202,303,661
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISS OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 MouseDO NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
JBrowse link
G SMAD1 SMAD family member 1 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:21898662, PMID:26387786 NCBI chr 4:145,481,306...145,559,176
Ensembl chr 4:145,481,194...145,559,176
JBrowse link
G SMAD1-AS1 SMAD1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:21898662, PMID:26387786 NCBI chr 4:145,514,578...145,517,194
Ensembl chr 4:145,514,615...145,517,118
JBrowse link
G SMAD4 SMAD family member 4 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:21898662, PMID:24728327, PMID:25502805, PMID:25741868, PMID:26387786, PMID:28492532 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045
JBrowse link
G SMAD9 SMAD family member 9 IAGP
EXP
ClinVar Annotator: match by term: Primary pulmonary hypertension
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr13:36,844,831...36,920,721
Ensembl chr13:36,844,831...36,920,765
JBrowse link
G SNORD11 small nucleolar RNA, C/D box 11 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:23579436, PMID:26387786 NCBI chr 2:202,293,051...202,293,134
Ensembl chr 2:202,293,051...202,293,134
JBrowse link
G SNORD11B small nucleolar RNA, C/D box 11B IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:23579436, PMID:26387786 NCBI chr 2:202,291,317...202,291,428
Ensembl chr 2:202,291,332...202,291,421
JBrowse link
G SNORD70 small nucleolar RNA, C/D box 70 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:23579436, PMID:26387786 NCBI chr 2:202,276,431...202,276,518
Ensembl chr 2:202,276,431...202,276,518
JBrowse link
G SNORD70B small nucleolar RNA, C/D box 70B IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:23579436, PMID:26387786 NCBI chr 2:202,278,113...202,278,187
Ensembl chr 2:202,278,108...202,278,192
JBrowse link
G TBX4 T-box transcription factor 4 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:25741868, PMID:31151956 NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,452,404...61,485,110
JBrowse link
G TNFSF4 TNF superfamily member 4 ISS OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 MouseDO NCBI chr 1:173,183,729...173,462,208
Ensembl chr 1:173,183,731...173,207,331
JBrowse link
G VIP vasoactive intestinal peptide ISS OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 MouseDO NCBI chr 6:152,750,797...152,759,765
Ensembl chr 6:152,750,797...152,759,765
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 IAGP 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 2:202,376,310...202,567,751
Ensembl chr 2:202,376,327...202,567,751
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 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension 2 ClinVar
OMIM
PMID:19211612, PMID:21898662, PMID:21920918, PMID:24033266, PMID:28492532 NCBI chr13:36,844,831...36,920,721
Ensembl chr13:36,844,831...36,920,765
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 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension 3 ClinVar PMID:25741868 NCBI chr 4:94,757,955...95,158,453
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G CAV1 caveolin 1 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension 3 ClinVar
OMIM
PMID:22474227, PMID:25741868, PMID:26387786, PMID:28492532, PMID:29231014 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,525,001...116,561,184
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 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension 4 ClinVar
OMIM
PMID:23883380, PMID:25741868, PMID:26387786, PMID:28492532 NCBI chr 2:26,692,722...26,733,420
Ensembl chr 2:26,692,690...26,733,420
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 IAGP 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 chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
JBrowse link
G ABI2 abl interactor 2 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:203,325,013...203,432,169
Ensembl chr 2:203,328,280...203,447,728
Ensembl chr 2:203,328,280...203,447,728
JBrowse link
G ACVRL1 activin A receptor like type 1 IAGP 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 chr12:51,906,913...51,923,361
Ensembl chr12:51,906,908...51,923,361
JBrowse link
G AL162586.1 novel transcript IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease
ClinVar PMID:18498373, PMID:23298310, PMID:24033266, PMID:25741868, PMID:26167679, PMID:26387786, PMID:28492532, PMID:30029678, PMID:32581362 NCBI chr 9:127,816,066...127,822,520
Ensembl chr 9:127,816,066...127,822,520
JBrowse link
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:201,700,267...201,781,153
Ensembl chr 2:201,700,267...201,780,956
JBrowse link
G AOX1 aldehyde oxidase 1 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:200,585,952...200,677,064
Ensembl chr 2:200,586,014...200,677,064
JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease ClinVar PMID:25741868, PMID:28492532, PMID:30029678 NCBI chr10:86,755,786...86,927,969
Ensembl chr10:86,756,601...86,932,838
Ensembl chr10:86,756,601...86,932,838
JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease ClinVar PMID:25741868, PMID:30029678 NCBI chr 4:94,757,955...95,158,453
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G BMPR2 bone morphogenetic protein receptor type 2 IAGP
EXP
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 2:202,376,310...202,567,751
Ensembl chr 2:202,376,327...202,567,751
JBrowse link
G BZW1 basic leucine zipper and W2 domains 1 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:200,811,589...200,827,338
Ensembl chr 2:200,810,594...200,827,338
JBrowse link
G C2CD6 C2 calcium dependent domain containing 6 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:201,487,421...201,619,182
Ensembl chr 2:201,487,421...201,619,178
JBrowse link
G CARF calcium responsive transcription factor IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:202,912,248...202,988,263
Ensembl chr 2:202,912,214...202,988,263
JBrowse link
G CASP10 caspase 10 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:201,182,885...201,229,406
Ensembl chr 2:201,182,898...201,229,406
Ensembl chr 2:201,182,898...201,229,406
JBrowse link
G CASP8 caspase 8 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:201,233,443...201,287,711
Ensembl chr 2:201,233,443...201,287,711
JBrowse link
G CAV1 caveolin 1 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease ClinVar PMID:25741868, PMID:30029678 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,525,001...116,561,184
JBrowse link
G CD28 CD28 molecule IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:203,706,509...203,739,756
Ensembl chr 2:203,706,475...203,738,912
JBrowse link
G CDH2 cadherin 2 IEP mRNA:increased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chr18:27,932,878...28,177,130
Ensembl chr18:27,932,879...28,177,946
Ensembl chr18:27,932,879...28,177,946
JBrowse link
G CDK15 cyclin dependent kinase 15 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:201,790,324...201,895,550
Ensembl chr 2:201,790,461...201,895,550
JBrowse link
G CFLAR CASP8 and FADD like apoptosis regulator IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:201,116,164...201,176,687
Ensembl chr 2:201,116,154...201,176,687
JBrowse link
G CLK1 CDC like kinase 1 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:200,853,009...200,864,658
Ensembl chr 2:200,853,009...200,864,744
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,867,771...203,873,965
JBrowse link
G CTNND1 catenin delta 1 IEP protein:decreased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chr11:57,761,802...57,819,540
Ensembl chr11:57,753,243...57,819,546
JBrowse link
G CYP20A1 cytochrome P450 family 20 subfamily A member 1 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:203,238,982...203,306,026
Ensembl chr 2:203,238,977...203,306,026
Ensembl chr 2:203,238,977...203,306,026
JBrowse link
G DNAH5 dynein axonemal heavy chain 5 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:11788826, PMID:22416021, PMID:25186273, PMID:26228299, PMID:28492532, PMID:30311386 NCBI chr 5:13,690,328...14,011,829
Ensembl chr 5:13,690,331...13,944,543
JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:29068549, PMID:30311386 NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863
JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591
JBrowse link
G ENG endoglin IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease
ClinVar PMID:10625079, PMID:12673790, PMID:15517393, PMID:15521985, PMID:16705692, PMID:18498373, PMID:19270816, PMID:21158752, PMID:22991266, PMID:23298310, PMID:23722869, PMID:24033266, PMID:25741868, PMID:26167679, PMID:26387786, PMID:28492532, PMID:30029678, PMID:32581362 NCBI chr 9:127,815,012...127,854,773
Ensembl chr 9:127,815,013...127,854,658
Ensembl chr 9:127,815,013...127,854,658
JBrowse link
G FAM117B family with sequence similarity 117 member B IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:202,634,969...202,769,757
Ensembl chr 2:202,634,969...202,769,757
JBrowse link
G FAM126B family with sequence similarity 126 member B IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:200,973,718...201,071,671
Ensembl chr 2:200,973,718...201,071,671
JBrowse link
G FLACC1 flagellum associated containing coiled-coil domains 1 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:201,288,271...201,364,285
Ensembl chr 2:201,288,271...201,357,398
JBrowse link
G FZD7 frizzled class receptor 7 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:202,033,855...202,038,441
Ensembl chr 2:202,034,587...202,038,445
JBrowse link
G GJB2 gap junction protein beta 2 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938
JBrowse link
G HYDIN HYDIN axonemal central pair apparatus protein IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr16:70,802,084...71,230,722
Ensembl chr16:70,802,084...71,230,722
JBrowse link
G ICA1L islet cell autoantigen 1 like IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:202,773,176...202,871,766
Ensembl chr 2:202,773,150...202,871,985
JBrowse link
G ICOS inducible T cell costimulator IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577
JBrowse link
G ITGA5 integrin subunit alpha 5 IEP mRNA:increased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chr12:54,395,261...54,419,266
Ensembl chr12:54,395,261...54,419,266
JBrowse link
G KCNK3 potassium two pore domain channel subfamily K member 3 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:26,692,722...26,733,420
Ensembl chr 2:26,692,690...26,733,420
JBrowse link
G KCTD18 potassium channel tetramerization domain containing 18 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:200,488,958...200,510,068
Ensembl chr 2:200,488,958...200,519,784
JBrowse link
G MPP4 membrane palmitoylated protein 4 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:201,644,874...201,700,263
Ensembl chr 2:201,644,870...201,698,694
JBrowse link
G NBEAL1 neurobeachin like 1 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:203,013,784...203,225,194
Ensembl chr 2:203,014,879...203,226,378
JBrowse link
G NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:201,071,784...201,085,750
Ensembl chr 2:201,071,433...201,085,750
JBrowse link
G NIF3L1 NGG1 interacting factor 3 like 1 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:200,889,327...200,903,932
Ensembl chr 2:200,889,327...200,903,938
JBrowse link
G NOP58 NOP58 ribonucleoprotein IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:202,265,763...202,303,661
Ensembl chr 2:202,265,736...202,303,661
JBrowse link
G ORC2 origin recognition complex subunit 2 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:200,908,977...200,963,701
Ensembl chr 2:200,908,977...200,963,680
JBrowse link
G PHF6 PHD finger protein 6 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr  X:134,373,312...134,428,790
Ensembl chr  X:134,373,253...134,428,791
Ensembl chr  X:134,373,253...134,428,791
JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:16144131, PMID:16283678, PMID:18602922, PMID:19283792, PMID:20205264, PMID:21239990, PMID:22658618, PMID:23012243, PMID:24033266, PMID:25525159, PMID:25637381, PMID:25741868, PMID:26467025, PMID:26895986, PMID:28492532, PMID:29489754 NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,106
JBrowse link
G PPIL3 peptidylprolyl isomerase like 3 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:200,870,907...200,889,333
Ensembl chr 2:200,870,907...200,889,303
JBrowse link
G RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:203,433,682...203,535,322
Ensembl chr 2:203,394,345...203,535,335
JBrowse link
G SGO2 shugoshin 2 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:200,510,198...200,584,096
Ensembl chr 2:200,510,008...200,584,096
JBrowse link
G SMAD9 SMAD family member 9 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease ClinVar PMID:25741868, PMID:30004997, PMID:30029678 NCBI chr13:36,844,831...36,920,721
Ensembl chr13:36,844,831...36,920,765
JBrowse link
G SOD2 superoxide dismutase 2 ISO
IEP
protein:decreased expression:pulmonary artery
protein:decreased expression:small pulmonary artery
RGD PMID:20529999, PMID:20529999 RGD:27095884, RGD:27095884 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
Ensembl chr 6:159,669,069...159,762,529
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G SPATS2L spermatogenesis associated serine rich 2 like IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:200,305,879...200,482,264
Ensembl chr 2:200,305,881...200,482,264
JBrowse link
G STRADB STE20 related adaptor beta IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:201,451,734...201,480,846
Ensembl chr 2:201,387,858...201,480,846
JBrowse link
G SUMO1 small ubiquitin like modifier 1 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,180...202,238,608
Ensembl chr 2:202,206,180...202,238,608
JBrowse link
G TBX4 T-box transcription factor 4 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease ClinVar PMID:25741868, PMID:30029678, PMID:32581362 NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,452,404...61,485,110
JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IEP mRNA:increased expression:lung RGD PMID:25593290 RGD:38500244 NCBI chr 9:99,104,038...99,154,192
Ensembl chr 9:99,104,038...99,154,192
JBrowse link
G TMEM237 transmembrane protein 237 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570
JBrowse link
G TRAK2 trafficking kinesin protein 2 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:201,377,207...201,451,577
Ensembl chr 2:201,377,207...201,451,500
JBrowse link
G TWIST1 twist family bHLH transcription factor 1 IEP mRNA, protein:increased expression: pulmonary artery,lung: RGD PMID:25593290 RGD:38500244 NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636
JBrowse link
G VIM vimentin IEP protein:increased phosphorylation:lung RGD PMID:25593290 RGD:38500244 NCBI chr10:17,228,241...17,237,593
Ensembl chr10:17,228,241...17,237,593
JBrowse link
G WDR12 WD repeat domain 12 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:202,874,261...202,911,673
Ensembl chr 2:202,874,782...203,014,798
Ensembl chr 2:202,874,782...203,014,798
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 IAGP 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 chr12:51,906,913...51,923,361
Ensembl chr12:51,906,908...51,923,361
JBrowse link
G AL162586.1 novel transcript IAGP ClinVar Annotator: match by term: PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED ClinVar PMID:14684682, PMID:15024723, PMID:15115879, PMID:15687131, PMID:18156574, PMID:26387786, PMID:28492532 NCBI chr 9:127,816,066...127,822,520
Ensembl chr 9:127,816,066...127,822,520
JBrowse link
G ENG endoglin IAGP ClinVar Annotator: match by term: PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED ClinVar PMID:14684682, PMID:15024723, PMID:15115879, PMID:15687131, PMID:18156574, PMID:23919827, PMID:26387786, PMID:28492532 NCBI chr 9:127,815,012...127,854,773
Ensembl chr 9:127,815,013...127,854,658
Ensembl chr 9:127,815,013...127,854,658
JBrowse link
Pulmonary Edema of Mountaineers term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNM1L dynamin 1 like ISO mRNA:increased expression:lung (rat) RGD PMID:23517027 RGD:12738217 NCBI chr12:32,679,296...32,745,650
Ensembl chr12:32,679,200...32,745,650
JBrowse link
G FIS1 fission, mitochondrial 1 ISO mRNA:increased expression:lung (rat) RGD PMID:23517027 RGD:12738217 NCBI chr 7:101,239,472...101,245,081
Ensembl chr 7:101,239,458...101,252,316
JBrowse link
G GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25373139 NCBI chr 4:155,666,725...155,737,059
Ensembl chr 4:155,666,726...155,737,059
Ensembl chr 4:155,666,726...155,737,059
JBrowse link
G HMOX1 heme oxygenase 1 ISO protein:increased expression:lung RGD PMID:21296072 RGD:10755745 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,207
JBrowse link
G MFN2 mitofusin 2 ISO mRNA:decreased expression:lung (rat) RGD PMID:23517027 RGD:12738217 NCBI chr 1:11,980,215...12,013,508
Ensembl chr 1:11,980,181...12,015,211
Ensembl chr 1:11,980,181...12,015,211
JBrowse link
Pulmonary Hypertension, Chronic Thromboembolic, without Deep Vein Thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HLA-DPB1 major histocompatibility complex, class II, DP beta 1 susceptibility IAGP DNA:polymorphisms:cds:HLA-DPB1*0202 (human) RGD PMID:19165231 RGD:5143999 NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,990...33,089,696
JBrowse link
Pulmonary Hypertension, Hypoxia-Induced term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EGFR epidermal growth factor receptor treatment ISO RGD PMID:31264901 RGD:38599217 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
JBrowse link
G EGLN1 egl-9 family hypoxia inducible factor 1 ISO RGD PMID:16761101 RGD:11252085 NCBI chr 1:231,363,756...231,422,332
Ensembl chr 1:231,363,751...231,422,287
JBrowse link
G EGLN3 egl-9 family hypoxia inducible factor 3 ISO RGD PMID:16761101 RGD:11252085 NCBI chr14:33,924,227...33,951,074
Ensembl chr14:33,924,227...34,462,774
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase treatment ISO RGD PMID:25063801 RGD:10449119 NCBI chr  X:154,531,390...154,547,569
Ensembl chr  X:154,531,391...154,547,572
JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO mRNA:decreased expression:lung (rat) RGD PMID:19823174 RGD:4145499 NCBI chr10:99,396,870...99,430,624
Ensembl chr10:99,396,870...99,430,624
JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO mRNA:decreased expression:lung (rat) RGD PMID:19823174 RGD:4145499 NCBI chr16:58,707,131...58,734,316
Ensembl chr16:58,707,131...58,734,342
JBrowse link
G HPGD 15-hydroxyprostaglandin dehydrogenase ISO mRNA, protein:increased expression:lung RGD PMID:24657469 RGD:11667099 NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154
JBrowse link
G MFN2 mitofusin 2 ISO mRNA, protein:decreased expression:lung (rat) RGD PMID:26485208 RGD:12910856 NCBI chr 1:11,980,215...12,013,508
Ensembl chr 1:11,980,181...12,015,211
Ensembl chr 1:11,980,181...12,015,211
JBrowse link
G NOG noggin ISO mRNA,protein:decreased expression:lung: RGD PMID:25740156 RGD:12801489 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
JBrowse link
G NOS3 nitric oxide synthase 3 ISO mRNA,protein:increased expression:pulmonary artery RGD PMID:9950873 RGD:11533933 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G SLC39A12 solute carrier family 39 member 12 ISO RGD PMID:26258299 RGD:10401832 NCBI chr10:17,951,918...18,043,285
Ensembl chr10:17,951,839...18,043,292
JBrowse link
pulmonary venoocclusive disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATF4 activating transcription factor 4 ISO protein:increased expression:lung RGD PMID:32209028 RGD:38549370 NCBI chr22:39,514,494...39,522,686
Ensembl chr22:39,519,672...39,522,683
Ensembl chr22:39,519,672...39,522,683
JBrowse link
G BMPR2 bone morphogenetic protein receptor type 2 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:202,376,310...202,567,751
Ensembl chr 2:202,376,327...202,567,751
JBrowse link
G DDIT3 DNA damage inducible transcript 3 IEP
ISO
protein:increased expression:lung, endothelial cell RGD PMID:32209028, PMID:32209028 RGD:38549370, RGD:38549370 NCBI chr12:57,516,588...57,520,517
Ensembl chr12:57,516,588...57,521,737
JBrowse link
G EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 ISO protein:increased expression:lung RGD PMID:32209028 RGD:38549370 NCBI chr 2:37,099,210...37,157,065
Ensembl chr 2:37,099,210...37,157,065
JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO protein:increased expression:lung RGD PMID:32209028 RGD:38549370 NCBI chr 2:88,556,741...88,627,464
Ensembl chr 2:88,556,741...88,627,464
JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 disease_progression EXP
ISO
IEP
CTD Direct Evidence: marker/mechanism
protein:decreased expression:lung
CTD PMID:24292273, PMID:32209028, PMID:32209028 RGD:38549370, RGD:38549370 NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591
JBrowse link
G ERG ETS transcription factor ERG ISO
IEP
protein:decreased expression:lung RGD PMID:32209028, PMID:32209028 RGD:38549370, RGD:38549370 NCBI chr21:38,367,261...38,661,783
Ensembl chr21:38,380,027...38,661,780
JBrowse link
G HMOX1 heme oxygenase 1 IEP
ISO
protein:increased expression:lung, endothelial cell RGD PMID:32209028, PMID:32209028 RGD:38549370, RGD:38549370 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,207
JBrowse link
G KCNK3 potassium two pore domain channel subfamily K member 3 ISO RGD PMID:32209028 RGD:38549370 NCBI chr 2:26,692,722...26,733,420
Ensembl chr 2:26,692,690...26,733,420
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 IAGP 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 2:202,376,310...202,567,751
Ensembl chr 2:202,376,327...202,567,751
JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 IAGP ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1, autosomal dominant ClinVar PMID:24033266 NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591
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 IAGP ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis
ClinVar Annotator: match by term: Pulmonary venoocclusive disease 2, autosomal recessive
ClinVar
OMIM
PMID:24033266, PMID:24135949, PMID:24292273, PMID:25512148, PMID:26387786, PMID:32581362 NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18830
    disease of anatomical entity 17318
      respiratory system disease 2951
        lung disease 1789
          pulmonary hypertension 301
            Dursun Syndrome 1
            Familial Cirrhosis with Pulmonary Hypertension 0
            HUPRA Syndrome 1
            Pulmonary Arterial Hypertension + 61
            Pulmonary Edema of Mountaineers 5
            Pulmonary Hypertension, Chronic Thromboembolic, without Deep Vein Thrombosis 1
            Pulmonary Hypertension, Hypoxia-Induced 11
            Rowley-Rosenberg Syndrome 0
            Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 0
            persistent fetal circulation syndrome 34
            primary pulmonary hypertension + 28
            pulmonary venoocclusive disease + 9
Path 2
Term Annotations click to browse term
  disease 18830
    disease of anatomical entity 17318
      cardiovascular system disease 3912
        vascular disease 2813
          artery disease 1861
            hypertension 945
              pulmonary hypertension 301
                Dursun Syndrome 1
                Familial Cirrhosis with Pulmonary Hypertension 0
                HUPRA Syndrome 1
                Pulmonary Arterial Hypertension + 61
                Pulmonary Edema of Mountaineers 5
                Pulmonary Hypertension, Chronic Thromboembolic, without Deep Vein Thrombosis 1
                Pulmonary Hypertension, Hypoxia-Induced 11
                Rowley-Rosenberg Syndrome 0
                Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 0
                persistent fetal circulation syndrome 34
                primary pulmonary hypertension + 28
                pulmonary venoocclusive disease + 9
paths to the root

NHLBI Logo

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