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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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


show annotations for term's descendants           Sort by:
 
pulmonary hypertension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26780485 NCBI chr 3:39,689,133...39,732,466
Ensembl chr 3:39,689,202...39,732,979
JBrowse link
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12359135 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,639
JBrowse link
G ACE2 angiotensin I converting enzyme 2 ISO CTD Direct Evidence: therapeutic CTD PMID:31931441 NCBI chr  X:12,099,849...12,152,204
Ensembl chr  X:12,099,853...12,151,275
JBrowse link
G ACVRL1 activin A receptor like type 1 disease_progression
susceptibility
ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pulmonary hypertension
DNA:mutations (human)
associated with hereditary haemorrhagic telangiectasia;DNA:missense mutations
mRNA:increased expression:lung
CTD
ClinVar
RGD
PMID:11484689, PMID:14684682, PMID:15687131, PMID:16540754, PMID:17392319, PMID:17786384, PMID:18159113, PMID:20056902, PMID:20501893, PMID:21378382, PMID:22632830, PMID:23298310, PMID:23919827, PMID:25741868, PMID:26387786, PMID:26540443, PMID:28492532, PMID:30311386, PMID:32581362 RGD:1601116, RGD:1601117, RGD:5128837 NCBI chr 5:17,267,483...17,284,155
Ensembl chr 5:17,263,907...17,286,276
JBrowse link
G ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide ISO RGD PMID:20431245 RGD:5128886 NCBI chr 8:121,266,794...121,282,313
Ensembl chr 8:121,266,764...121,282,311
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO RGD PMID:19168697 RGD:5686821 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,684...124,646,648
JBrowse link
G ADM adrenomedullin ISO RGD PMID:14718403 RGD:1625305 NCBI chr 2:49,229,223...49,231,521
Ensembl chr 2:49,229,223...49,231,866
JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO protein:increased expression:lung (human) RGD PMID:21041689 RGD:7244258 NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,116...24,228,756
JBrowse link
G AGT angiotensinogen ISO RGD PMID:21381494 RGD:5129162 NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,672,428
JBrowse link
G AGTR1 angiotensin II receptor type 1 onset ISO DNA:polymorphism:3' utr:1166A>C (human) RGD PMID:19332265 RGD:5147450 NCBI chr13:88,934,873...88,980,317
Ensembl chr13:88,934,868...88,983,131
JBrowse link
G ALAS1 aminolevulinate, delta-, synthase 1 pseudogene ISO mRNA:increased expression:lung (rat) RGD PMID:16181105 RGD:4144185 NCBI chr13:34,333,263...34,347,435
Ensembl chr13:34,333,113...34,347,590
JBrowse link
G ALOX5 arachidonate 5-lipoxygenase treatment ISO protein:increased expression:artery
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:8647941, PMID:9445303, PMID:14726295, PMID:31462075 RGD:14975304, RGD:1626154, RGD:4890418, RGD:734558 NCBI chr14:90,859,209...90,907,084
Ensembl chr14:90,858,975...90,907,094
JBrowse link
G ALOX5AP arachidonate 5-lipoxygenase activating protein ISO protein:increased expression:artery RGD PMID:8647941, PMID:9445303 RGD:1626154, RGD:734558 NCBI chr11:7,371,328...7,438,111
Ensembl chr11:7,411,644...7,438,108
JBrowse link
G ANGPT1 angiopoietin 1 ISO protein:decreased expression:pulmonary artery RGD PMID:18073453 RGD:2316069 NCBI chr 4:29,925,203...30,233,434
Ensembl chr 4:29,933,135...30,233,960
JBrowse link
G ANGPT2 angiopoietin 2 ISO protein:increased expression:pulmonary artery (rat) RGD PMID:19712575 RGD:2314185 NCBI chr15:37,544,177...37,600,925
Ensembl chr15:37,544,707...37,599,041
JBrowse link
G APLN apelin ISO protein:decreased expression:plasma RGD PMID:16263185 RGD:1626175 NCBI chr  X:106,236,746...106,246,563
Ensembl chr  X:106,236,748...106,246,378
JBrowse link
G ARG2 arginase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24951775 NCBI chr 7:91,343,987...91,385,911
Ensembl chr 7:91,343,987...91,385,911
JBrowse link
G ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 treatment ISO RGD PMID:23804254, PMID:27144451 RGD:13782086, RGD:13782089 NCBI chr14:31,674,659...31,744,981
Ensembl chr14:31,674,757...31,744,973
JBrowse link
G ATP5F1A ATP synthase F1 subunit alpha treatment ISO chronic thromboembolic pulmonary hypertension RGD PMID:21396162 RGD:13703061 NCBI chr 1:95,738,789...95,750,835
Ensembl chr 1:95,625,800...95,750,875
JBrowse link
G ATP5PF ATP synthase peripheral stalk subunit F6 treatment ISO mRNA, protein:increased expression:lung, plasma (rat) RGD PMID:27491388, PMID:27916219 RGD:13800892, RGD:13800894 NCBI chr13:189,281,429...189,290,234
Ensembl chr13:189,278,945...189,290,229
JBrowse link
G ATP7A ATPase copper transporting alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614111 NCBI chr  X:61,972,544...62,110,058
Ensembl chr  X:61,972,874...62,110,058
JBrowse link
G BCL2 BCL2 apoptosis regulator ISO protein:decreased expression:heart right ventricle RGD PMID:18441466 RGD:2293022 NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,288,544...158,518,879
JBrowse link
G BCL2L1 BCL2 like 1 treatment ISO RGD PMID:22559233 RGD:10400914 NCBI chr17:35,366,139...35,415,798
Ensembl chr17:35,366,141...35,415,359
JBrowse link
G BDKRB2 bradykinin receptor B2 ISO RGD PMID:15878794 RGD:4890453 NCBI chr 7:117,438,622...117,472,005
Ensembl chr 7:117,438,543...117,472,003
JBrowse link
G BIRC5 baculoviral IAP repeat containing 5 ISO protein:increased expression:pulmonary artery RGD PMID:15931388 RGD:2293135 NCBI chr12:3,747,276...3,755,214
Ensembl chr12:3,747,237...3,755,188
JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A ISO RGD PMID:19324947 RGD:5129472 NCBI chr14:87,743,270...87,891,790
Ensembl chr14:87,742,459...87,891,793
JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B ISO RGD PMID:19324947 RGD:5129472 NCBI chr 8:124,536,648...125,035,841
Ensembl chr 8:124,536,648...124,841,530
JBrowse link
G BMPR2 bone morphogenetic protein receptor type 2 disease_progression ISO CTD Direct Evidence: marker/mechanism
DNA:mutations: :multiple (human)
DNA:missense mutations (human)
CTD
RGD
PMID:11590841, PMID:11893684, PMID:12358323, PMID:15775752, PMID:16297860, PMID:18663089, PMID:19324947, PMID:19785764, PMID:20002458, PMID:20496075, PMID:20522807, PMID:20534176, PMID:23383100, PMID:23502781, PMID:24224048 RGD:1580076, RGD:5129237, RGD:5129238, RGD:5129239, RGD:5129472, RGD:5129474 NCBI chr15:105,971,577...106,132,496
Ensembl chr15:105,970,427...106,135,730
JBrowse link
G BRD4 bromodomain containing 4 ISO CTD Direct Evidence: therapeutic CTD PMID:26224795 NCBI chr 2:62,250,958...62,345,851
Ensembl chr 2:62,250,987...62,345,387
JBrowse link
G CA9 carbonic anhydrase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20110409 NCBI chr 1:236,393,727...236,400,994
Ensembl chr 1:236,388,690...236,400,822
JBrowse link
G CALCB calcitonin-related polypeptide beta ISO CTD Direct Evidence: therapeutic CTD PMID:1357980 NCBI chr 2:44,043,135...44,048,651 JBrowse link
G CASR calcium sensing receptor ISO protein:increased expression:pulmonary artery (rat) RGD PMID:22730443 RGD:7205669 NCBI chr13:138,279,785...138,364,934
Ensembl chr13:138,280,363...138,364,253
JBrowse link
G CAV1 caveolin 1 treatment ISO idiopathic pulmonary arterial hypertension (IPAH) RGD PMID:15353500, PMID:17470567, PMID:23538027 RGD:1581153, RGD:1625360, RGD:8662276 NCBI chr18:29,648,120...29,682,451
Ensembl chr18:29,649,992...29,682,465
JBrowse link
G CBLN2 cerebellin 2 precursor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23502781 NCBI chr 1:150,966,003...150,980,757
Ensembl chr 1:150,973,622...150,980,757
JBrowse link
G CCL1 C-C motif chemokine ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22507635 NCBI chr12:40,728,014...40,731,411
Ensembl chr12:40,728,014...40,731,411
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:bronchoalveolar lavage fluid (rat)
protein:increased expression:lung, plasma
CTD
RGD
PMID:9605182, PMID:15302794, PMID:19087668, PMID:30418988 RGD:2307003, RGD:8549547 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO protein:increased secretion:serum (human) RGD PMID:19932032 RGD:4891440 NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
JBrowse link
G CCN2 cellular communication network factor 2 ISO protein:increased expression:pulmonary artery (rat) RGD PMID:19234054 RGD:2314535 NCBI chr 1:31,674,398...31,677,697
Ensembl chr 1:31,673,798...31,677,696
JBrowse link
G CD209 CD209 molecule ISO RGD PMID:17107989 RGD:5131187 NCBI chr 2:71,394,414...71,397,711
Ensembl chr 2:71,394,390...71,397,969
JBrowse link
G CD28 CD28 molecule ISO RGD PMID:19075187 RGD:5131619 NCBI chr15:107,128,103...107,155,431
Ensembl chr15:107,128,208...107,162,943
JBrowse link
G CD40 CD40 molecule treatment ISO RGD PMID:25998782 RGD:11344970 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
JBrowse link
G CD40LG CD40 ligand ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum (rat)
CTD
RGD
PMID:15302794, PMID:25998782 RGD:11344970 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,711
JBrowse link
G CD86 CD86 molecule ISO protein:decreased expression:blood, myeloid dendritic cell (human) RGD PMID:19693657 RGD:4892293 NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,525...138,504,310
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A treatment ISO RGD PMID:24334871, PMID:24412385 RGD:10043360, RGD:10043361 NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,359,455...32,363,761
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B treatment ISO RGD PMID:22383500 RGD:10045357 NCBI chr 5:59,731,224...59,735,831
Ensembl chr 5:59,731,206...59,735,831
JBrowse link
G CLU clusterin ISO RGD PMID:25069740 RGD:9068424 NCBI chr14:11,336,585...11,352,569
Ensembl chr14:11,336,590...11,352,475
JBrowse link
G COL1A1 collagen type I alpha 1 chain treatment ISO RGD PMID:25867313 RGD:11041577 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003
JBrowse link
G COL4A1 collagen type IV alpha 1 chain treatment ISO RGD PMID:25867313 RGD:11041577 NCBI chr11:76,858,332...76,997,409 JBrowse link
G CRP C-reactive protein, pentraxin-related ISO associated with Pulmonary Disease, Chronic Obstructive RGD PMID:22333502 RGD:6482312 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,722,352...90,805,236
JBrowse link
G CSF3 colony stimulating factor 3 treatment ISO RGD PMID:12524378, PMID:17186992 RGD:11039432, RGD:11039539 NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,445...22,342,163
JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO protein:increased expression:lung
associated with Heart Defects, Congenital
mRNA, protein:increased expression:lung
RGD PMID:18630689, PMID:19948918, PMID:20869263 RGD:4891883, RGD:4891887, RGD:4891889 NCBI chr 6:19,312,351...19,324,439 JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 ISO associated with Scleroderma, Systemic;DNA:polymorphisms: :p.V249I, p.T280M (human)
mRNA, protein:increased expression:lung
RGD PMID:16584113, PMID:17182651 RGD:4891893, RGD:4891896 NCBI chr13:23,944,386...23,957,567
Ensembl chr13:23,944,369...23,957,486
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15302794 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 treatment ISO RGD PMID:21294880 RGD:6480473 NCBI chr15:15,663,652...15,666,706
Ensembl chr15:15,663,494...15,667,233
JBrowse link
G CYBA cytochrome b-245 alpha chain ISO associated with Anoxia;mRNA, protein:increased expression:lung RGD PMID:18424632, PMID:18952568 RGD:4762683, RGD:4773907 NCBI chr 6:1,015,212...1,021,422
Ensembl chr 6:1,015,154...1,021,418
JBrowse link
G CYP1A1 cytochrome P450 1A1 ISO mRNA,protein:increased expression:lung RGD PMID:28956952 RGD:13702097 NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,780,105...58,809,755
JBrowse link
G CYSLTR1 cysteinyl leukotriene receptor 1 ISO associated with Anoxia RGD PMID:12910720 RGD:4848274 NCBI chr  X:62,380,778...62,407,736
Ensembl chr  X:62,380,780...62,456,691
JBrowse link
G ECE1 endothelin converting enzyme 1 ISO associated with Anoxia; RGD PMID:18767389 RGD:7243939 NCBI chr 6:79,408,322...79,465,827
Ensembl chr 6:79,408,328...79,466,106
JBrowse link
G EDN1 endothelin 1 ISO Hypertension, Portopulmonary; protein:increased secretion:plasma (human)
associated with Pulmonary Disease, Chronic Obstructive; protein:increased secretion:plasma (human)
CTD Direct Evidence: marker/mechanism
Hypertension, Heritable Pulmonary Artery; mRNA:increased expression:bone marrow, macrophage (mouse)
mRNA:increased expression:lung (rat)
RGD
CTD
PMID:7549228, PMID:9918753, PMID:12391278, PMID:20498147, PMID:20562228, PMID:20889845, PMID:20890431, PMID:20929026, PMID:20967148 RGD:4144128, RGD:4144865, RGD:4144877, RGD:4144882 NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
JBrowse link
G EDN2 endothelin 2 ISO RGD PMID:10598486 RGD:1580918 NCBI chr 6:169,751,956...169,758,011
Ensembl chr 6:169,752,026...169,758,583
JBrowse link
G EDNRA endothelin receptor type A ISO RGD PMID:15243299, PMID:18506008, PMID:20531217, PMID:20562228 RGD:1580949, RGD:4144877, RGD:4892283, RGD:4892320 NCBI chr 8:81,210,750...81,279,053
Ensembl chr 8:81,209,327...81,276,853
JBrowse link
G EDNRB endothelin receptor type B ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15243299, PMID:15927975, PMID:18091567, PMID:20562228 RGD:1580949, RGD:4144877, RGD:4892289 NCBI chr11:50,073,300...50,102,879
Ensembl chr11:50,072,554...50,102,884
JBrowse link
G EGFR epidermal growth factor receptor ISO protein:increased expression:lung, arteriole (human) RGD PMID:12896876, PMID:21492463 RGD:5131626, RGD:5131639 NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,478,882
JBrowse link
G EGR1 early growth response 1 ISO mRNA, protein:increased expression:lung (rat)
protein:increased expression:lung (human)
mRNA, protein:increased expression:lung (mouse)
RGD PMID:18599502, PMID:20023177, PMID:20889906, PMID:21924231 RGD:10395308, RGD:5131875, RGD:5131883, RGD:5131890 NCBI chr 2:140,440,829...140,445,302
Ensembl chr 2:140,441,421...140,445,296
JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24292273 NCBI chr 1:131,244,818...131,355,240
Ensembl chr 1:131,245,463...131,355,224
JBrowse link
G ENG endoglin ISO RGD PMID:20042709 RGD:11041178 NCBI chr 1:268,309,379...268,343,861
Ensembl chr 1:268,306,120...268,343,827
JBrowse link
G EPAS1 endothelial PAS domain protein 1 ISO DNA:missense mutation:cds: 2097G>A,p.G537R(human) RGD PMID:16215633, PMID:18650473 RGD:10395375, RGD:11041573 NCBI chr 3:94,167,759...94,253,662
Ensembl chr 3:94,165,815...94,254,079
JBrowse link
G EPHX2 epoxide hydrolase 2 ISO RGD PMID:19226702 RGD:5688731 NCBI chr14:11,217,125...11,293,018
Ensembl chr14:11,216,977...11,293,412
JBrowse link
G EPO erythropoietin treatment ISO RGD PMID:22559233 RGD:10400914 NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936
JBrowse link
G ESR1 estrogen receptor 1 ISO RGD PMID:20081107 RGD:4892253 NCBI chr 1:14,217,032...14,604,906
Ensembl chr 1:14,217,036...14,493,363
JBrowse link
G ESR2 estrogen receptor 2 ISO RGD PMID:21700911 RGD:5508791 NCBI chr 1:193,823,666...193,907,330
Ensembl chr 1:193,722,164...193,906,565
JBrowse link
G F5 coagulation factor V ISO Chronic thromboembolic pulmonary hypertension (CTEPH) RGD PMID:20182352 RGD:4892669 NCBI chr 4:81,403,273...81,484,908
Ensembl chr 4:81,403,232...81,485,055
JBrowse link
G FBLN5 fibulin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12189163 NCBI chr 7:113,423,629...113,526,412
Ensembl chr 7:113,423,629...113,522,069
JBrowse link
G FGF2 fibroblast growth factor 2 ISO mRNA:increased expression:lung RGD PMID:19197140 RGD:2315911 NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,878...101,343,916
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO RGD PMID:19197140 RGD:2315911 NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,746
JBrowse link
G FOXO1 forkhead box O1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr11:15,317,222...15,410,059
Ensembl chr11:15,317,124...15,410,473
JBrowse link
G GATA4 GATA binding protein 4 ISO protein:increased expression:heart right ventricle RGD PMID:21059997 RGD:7207053 NCBI chr14:14,858,470...14,938,156
Ensembl chr14:14,858,159...14,939,941
JBrowse link
G GATA6 GATA binding protein 6 ISO protein:decreased expression:lung, arteriole, venule (human)
mRNA, protein:decreased expression:lung
RGD PMID:19842842, PMID:23583651 RGD:13208869, RGD:2314194 NCBI chr 6:107,282,709...107,314,725
Ensembl chr 6:107,282,847...107,314,634
JBrowse link
G GBA glucosylceramidase beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:12359135 NCBI chr 4:94,583,905...94,606,689
Ensembl chr 4:94,584,196...94,609,745
JBrowse link
G GDF2 growth differentiation factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26801773 NCBI chr14:88,506,083...88,513,416
Ensembl chr14:88,507,397...88,513,376
JBrowse link
G GJA1 gap junction protein alpha 1 treatment ISO mRNA:increased expression:pulmonary artery RGD PMID:21414209, PMID:23321332 RGD:7207411, RGD:8662411 NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,515...41,002,137
JBrowse link
G GP91-PHOX NADPH oxidase heavy chain subunit treatment ISO associated with Anoxia RGD PMID:18424632, PMID:18952568 RGD:4762683, RGD:4773907 NCBI chr  X:33,654,656...33,678,346
Ensembl chr  X:33,642,015...33,680,580
JBrowse link
G GPR182 G protein-coupled receptor 182 ISO mRNA:increased expression:lung RGD PMID:12622928 RGD:1625768 NCBI chr 5:22,303,466...22,309,652
Ensembl chr 5:22,304,588...22,311,031
JBrowse link
G HAS1 hyaluronan synthase 1 ISO RGD PMID:19915162 RGD:9588633 NCBI chr 6:58,303,274...58,313,486
Ensembl chr 6:58,307,029...58,313,486
JBrowse link
G HAS3 hyaluronan synthase 3 ISO mRNA:decreased expression:lung RGD PMID:19915162 RGD:9588633 NCBI chr 6:17,844,974...17,870,331
Ensembl chr 6:17,843,882...17,853,011
JBrowse link
G HDAC1 histone deacetylase 1 ISO protein:increased expression:lung: RGD PMID:22711276 RGD:9590133 NCBI chr 6:88,749,611...88,785,220
Ensembl chr 6:88,749,634...88,785,412
JBrowse link
G HDAC2 histone deacetylase 2 ISO protein:decreased expression:lung: RGD PMID:22711276 RGD:9590133 NCBI chr 1:79,867,713...79,901,597
Ensembl chr 1:79,863,094...79,901,585
JBrowse link
G HDAC3 histone deacetylase 3 ISO protein:decreased expression:lung: RGD PMID:22711276 RGD:9590133 NCBI chr 2:143,273,188...143,287,421
Ensembl chr 2:143,273,191...143,287,387
JBrowse link
G HDAC4 histone deacetylase 4 ISO protein:increased expression:lung: RGD PMID:22711276 RGD:9590133 NCBI chr15:138,378,237...138,657,266
Ensembl chr15:138,381,627...138,614,301
JBrowse link
G HDAC5 histone deacetylase 5 ISO protein:increased expression:lung: RGD PMID:22711276 RGD:9590133 NCBI chr12:19,077,910...19,119,463
Ensembl chr12:19,077,997...19,123,140
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO associated with Anoxia;protein:increased expression:pulmonary artery
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16215633, PMID:17213961, PMID:20110409 RGD:10395375, RGD:1601553 NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,181...190,674,850
JBrowse link
G HIF3A hypoxia inducible factor 3 subunit alpha ISO RGD PMID:16215633 RGD:10395375 NCBI chr 6:52,342,893...52,376,339
Ensembl chr 6:52,342,909...52,376,339
JBrowse link
G HK1 hexokinase 1 ISO mRNA:increased expression:lung RGD PMID:25767292 RGD:11353880 NCBI chr14:72,383,328...72,460,927
Ensembl chr14:72,351,149...72,460,925
JBrowse link
G HMGB1 high mobility group box 1 treatment ISO RGD PMID:25032709 RGD:10402082 NCBI chr11:7,195,556...7,321,071 JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:12750068 RGD:5508701 NCBI chr 2:84,380,245...84,401,117
Ensembl chr 2:84,380,225...84,402,956
JBrowse link
G HMOX1 heme oxygenase 1 ISO RGD PMID:14970910, PMID:19409105, PMID:20957739 RGD:1582715, RGD:4145307, RGD:4145325
G HP haptoglobin treatment ISO protein:decreased expression:serum RGD PMID:2043024, PMID:19023114, PMID:19703762, PMID:25656991 RGD:11041794, RGD:1626353, RGD:5147420, RGD:5147440 NCBI chr 6:14,980,382...14,985,245 JBrowse link
G HPGD 15-hydroxyprostaglandin dehydrogenase ISO mRNA, protein:increased expression:lung RGD PMID:24657469 RGD:11667099 NCBI chr14:15,718,261...15,773,534
Ensembl chr14:15,718,266...15,763,710
JBrowse link
G HTR2B 5-hydroxytryptamine receptor 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:14659797 NCBI chr15:131,844,578...131,860,417
Ensembl chr15:131,844,928...131,860,392
JBrowse link
G HYAL1 hyaluronidase 1 ISO mRNA:decreased expression:lung RGD PMID:19915162 RGD:9588633 NCBI chr13:32,798,135...32,800,705
Ensembl chr13:32,793,569...32,800,796
JBrowse link
G HYAL2 hyaluronidase 2 ISO mRNA:decreased expression:lung RGD PMID:19915162 RGD:9588633 NCBI chr13:32,805,220...32,813,684
Ensembl chr13:32,805,223...32,815,335
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO associated with Heart Defects, Congenital;protein:increased secretion:serum (human) RGD PMID:21034646 RGD:4145436 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
JBrowse link
G ID1 inhibitor of DNA binding 1, HLH protein ISO RGD PMID:20522807 RGD:9686087 NCBI chr17:35,316,518...35,317,742
Ensembl chr17:35,315,964...35,317,744
JBrowse link
G IFNGR1 interferon gamma receptor 1 ISO mRNA: increased expression RGD PMID:20808962 RGD:4892610 NCBI chr 1:27,037,151...27,061,095
Ensembl chr 1:27,037,165...27,061,093
JBrowse link
G IL10 interleukin 10 disease_progression ISO protein:increased expression:serum RGD PMID:20713898 RGD:4142530 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
JBrowse link
G IL13 interleukin 13 ISO associated with sclerosis; protein:increased expression:plasma
associated with Scleroderma, Limited;protein:increased expression:plasma
RGD PMID:19799786, PMID:21425123 RGD:4145600, RGD:8549528 NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093
JBrowse link
G IL13RA1 interleukin 13 receptor subunit alpha 1 ISO RGD PMID:20671265, PMID:20808962 RGD:4892610, RGD:4892611 NCBI chr  X:97,300,960...97,353,754
Ensembl chr  X:97,300,466...97,369,696
JBrowse link
G IL13RA2 interleukin 13 receptor subunit alpha 2 ISO mRNA:increased expression:lung RGD PMID:20522789 RGD:4892612 NCBI chr  X:94,402,665...94,455,609
Ensembl chr  X:94,402,675...94,439,060
JBrowse link
G IL18 interleukin 18 ISO RGD PMID:17400729 RGD:4889590 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,966...39,873,300
JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO RGD PMID:7946395 RGD:4143197
G IL23R interleukin 23 receptor ISO associated with Scleroderma, Systemic;DNA:SNPs: :rs11209026, rs11465804 (human) RGD PMID:19918037 RGD:5096624 NCBI chr 6:145,337,765...145,401,909
Ensembl chr 6:145,335,741...145,401,577
JBrowse link
G IL4 interleukin 4 ISO RGD PMID:20889544 RGD:5128515 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
JBrowse link
G IL6 interleukin 6 disease_progression ISO RGD PMID:20693255, PMID:20713898 RGD:4142530, RGD:4143246 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G KCNA5 potassium voltage-gated channel subfamily A member 5 ISO DNA:SNPs:promoter, cds
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:17267549, PMID:17596340, PMID:20303989, PMID:27522126 RGD:1627651, RGD:1627654, RGD:7242752 NCBI chr 5:65,439,336...65,442,207 JBrowse link
G KCNK3 potassium two pore domain channel subfamily K member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30365877 NCBI chr 3:112,322,446...112,359,212
Ensembl chr 3:112,322,446...112,359,212
JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28090300 NCBI chr14:79,345,382...80,106,337
Ensembl chr14:79,352,396...80,106,258
JBrowse link
G LEPR leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30689673 NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,798,979...146,896,108
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO associated with Scleroderma, Limited;protein:increased expression:serum RGD PMID:20713898, PMID:20808962 RGD:4142530, RGD:4892610
G LOC110261221 cytochrome P450 2J2-like ISO RGD PMID:20118222 RGD:7243137 NCBI chr 6:152,321,816...152,358,179
Ensembl chr 6:152,321,848...152,648,979
JBrowse link
G LOX lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614111 NCBI chr 2:125,595,115...125,607,026
Ensembl chr 2:125,593,116...125,607,594
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 treatment ISO RGD PMID:25907942 RGD:13800893 NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,523
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 treatment ISO RGD PMID:25907942 RGD:13800893 NCBI chr 3:18,291,444...18,299,410
Ensembl chr 3:18,291,445...18,299,567
JBrowse link
G MFN1 mitofusin 1 ISO protein:decreased expression:heart right ventricle (rat) RGD PMID:27422986 RGD:12910832 NCBI chr13:117,404,637...117,441,750
Ensembl chr13:117,404,699...117,442,481
JBrowse link
G MIF macrophage migration inhibitory factor ISO associated with sclerodema, systemic; protein:increased expression:serum RGD PMID:18618071 RGD:4891006 NCBI chr14:49,840,303...49,841,063
Ensembl chr14:49,840,305...49,862,317
JBrowse link
G MIR125A microRNA mir-125a treatment ISO RGD PMID:29700287 RGD:26884455 NCBI chr 6:58,331,566...58,331,645
Ensembl chr 6:58,331,566...58,331,645
JBrowse link
G MIR204 microRNA mir-204 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26224795 NCBI chr 1:224,065,494...224,065,602
Ensembl chr 1:224,065,494...224,065,602
JBrowse link
G MMP1 matrix metallopeptidase 1 ISO RGD PMID:23087098 RGD:7207217 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,454,000
JBrowse link
G MMP9 matrix metallopeptidase 9 severity ISO associated with Heart Failure, Congestive;protein:decreased expression:monocyte
associated with Pulmonary Embolism;protein:increased expression:lung, plasma
RGD PMID:16867026, PMID:17133179, PMID:18355767, PMID:21063214, PMID:23087098 RGD:1642028, RGD:1642053, RGD:5129210, RGD:5130155, RGD:7207217 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO RGD PMID:23470622 RGD:10041039 NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor treatment ISO RGD PMID:22306243 RGD:7240564 NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,119...12,461,078
JBrowse link
G NAMPT nicotinamide phosphoribosyltransferase susceptibility ISO protein:increased expression:lung:
mRNA,protein:increased expression:lung,pulmonary arterial endothelial cell:
RGD PMID:28202489 RGD:13781882 NCBI chr 9:106,119,896...106,162,126
Ensembl chr 9:106,119,899...106,294,587
JBrowse link
G NFATC2 nuclear factor of activated T cells 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:17596340, PMID:27522126 RGD:1627651 NCBI chr17:52,743,570...52,907,373
Ensembl chr17:52,743,570...52,906,821
JBrowse link
G NOS2 nitric oxide synthase 2 onset ISO associated with Scleroderma, Systemic; DNA:repeats, SNPs:promoter:(CCTTT), c.-1026C>T, c.-277A>G (human)
associated with Congenital diaphragmatic hernia; protein:decreased expression:pulmonary artery, endothelium
associated with Anoxia; protein:increased expression:pulmonary artery
associated with Anoxia; mouse gene in rat model
associated with heart disease; protein:increased expression:endothelial cell
RGD PMID:11104748, PMID:16113050, PMID:16456243, PMID:16813666, PMID:19912632 RGD:1580936, RGD:1580940, RGD:4891462, RGD:4891468, RGD:5132602 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,944...44,327,111
JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility
treatment
ISO CTD Direct Evidence: marker/mechanism
RNA:increased expression:lung
mRNA, protein:increased expression:pulmonary endothelial cell
associated with heart disease; protein:increased expression:endothelial cell
protein:increased expression:arteriole
associated with chronic obstructive pulmonary disease; DNA:polymorphism:cds:p.G894T (human)
associated with Beta-Thalassemia;DNA:repeats:intron:
DNA:polymorphism:cds:p.E298D (human)
CTD
RGD
PMID:11686901, PMID:17065228, PMID:18953956, PMID:19487814, PMID:19912632, PMID:20215577, PMID:20724942, PMID:21111729, PMID:21144100, PMID:25699607, PMID:29151278 RGD:11533642, RGD:13504742, RGD:4892004, RGD:4892009, RGD:4892010, RGD:4892038, RGD:4892039, RGD:4892042, RGD:4892043, RGD:5132602, RGD:5132631 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
JBrowse link
G NOX4 NADPH oxidase 4 ISO associated with Anoxia;mRNA, protein:increased expression:lung RGD PMID:18952568 RGD:4762683 NCBI chr 9:22,622,105...22,776,691
Ensembl chr 9:22,624,195...22,776,554
JBrowse link
G NPPA natriuretic peptide A ISO RGD PMID:2136863 RGD:7247720 NCBI chr 6:71,919,557...71,921,345
Ensembl chr 6:71,919,495...71,932,254
JBrowse link
G NPPB natriuretic peptide B severity ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma
CTD
RGD
PMID:16893710, PMID:16936438, PMID:20408845, PMID:21351102 RGD:1642203, RGD:1642205 NCBI chr 6:71,930,374...71,931,843
Ensembl chr 6:71,919,495...71,932,254
JBrowse link
G PDE3A phosphodiesterase 3A ISO mRNA:increased expression:pulmonary artery RGD PMID:12466227 RGD:1582528 NCBI chr 5:52,413,503...52,737,771
Ensembl chr 5:52,413,105...52,738,829
JBrowse link
G PDE5A phosphodiesterase 5A ISO RGD PMID:19881228 RGD:2314460 NCBI chr 8:104,270,858...104,420,955
Ensembl chr 8:104,270,881...104,420,947
JBrowse link
G PDGFA platelet derived growth factor subunit A ISO RGD PMID:8447423 RGD:1580847 NCBI chr 3:296,399...322,967
Ensembl chr 3:303,311...323,036
JBrowse link
G PDGFB platelet derived growth factor subunit B ISO RGD PMID:8447423, PMID:21819559, PMID:22523431 RGD:1580847, RGD:6482831, RGD:6482859 Ensembl chr 5:8,986,461...9,007,446 JBrowse link
G PDIA3 protein disulfide isomerase family A member 3 ISO protein:increased expression:lung: RGD PMID:23315792 RGD:9999167 NCBI chr 1:127,786,174...127,814,096
Ensembl chr 1:127,785,772...127,814,196
JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 treatment ISO RGD PMID:22559233 RGD:10400914 NCBI chr12:14,667,643...14,723,296
Ensembl chr12:14,582,481...14,723,336
JBrowse link
G PGF placental growth factor ISO associated with Anemia, Sickle Cell;protein:increased expression:plasma
associated with Heart Defects, Congenital
RGD PMID:20040765, PMID:20195855 RGD:6483588, RGD:6483610 NCBI chr 7:98,149,510...98,162,784 JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Pulmonary hypertension ClinVar PMID:16144131, PMID:16283678, PMID:18602922, PMID:19283792, PMID:20205264, PMID:21239990, PMID:22658618, PMID:23012243, PMID:24033266, PMID:25525159, PMID:25637381, PMID:25741868, PMID:26467025, PMID:26895986, PMID:28492532, PMID:29489754 NCBI chr 3:5,118,002...5,145,634
Ensembl chr 3:5,113,230...5,145,634
JBrowse link
G PRKG1 protein kinase cGMP-dependent 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21351102 NCBI chr14:97,558,531...98,793,080
Ensembl chr14:97,560,785...98,793,318
JBrowse link
G PTGIS prostaglandin I2 synthase susceptibility ISO rat gene in a mouse model RGD PMID:10359560, PMID:15684702 RGD:1580695, RGD:727270 NCBI chr17:51,153,151...51,200,515
Ensembl chr17:51,153,154...51,200,300
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO anoxia associated; RGD PMID:18542928, PMID:19577709 RGD:2300276, RGD:5135495 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,013...127,858,884
JBrowse link
G PTK2 protein tyrosine kinase 2 ISO RGD PMID:16244766 RGD:1581290 NCBI chr 4:2,656,606...2,896,060
Ensembl chr 4:2,656,613...2,896,060
JBrowse link
G RAMP2 receptor activity modifying protein 2 ISO mRNA:increased expression:heart right ventricle RGD PMID:17437045 RGD:1642678 NCBI chr12:20,092,204...20,094,426
Ensembl chr12:20,092,193...20,094,474
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 chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,471
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 chr13:31,918,484...31,991,207
Ensembl chr13:31,918,836...32,003,722
JBrowse link
G SERPINA1 serpin family A member 1 ISO protein:decreased expression:serum RGD PMID:1836309, PMID:17444595 RGD:1643144, RGD:1643154 NCBI chr 7:115,604,282...115,616,915
Ensembl chr 7:115,604,285...115,614,633
JBrowse link
G SERPINE1 serpin family E member 1 treatment ISO DNA:polymorphism:3'utr
mRNA, protein:decreased expression:lung
RGD PMID:18337154, PMID:20300292, PMID:27115515 RGD:11073610, RGD:4143527, RGD:4143529 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,564
JBrowse link
G SHAS2 hyaluronan synthase 2 ISO mRNA:increased expression:lung RGD PMID:19915162 RGD:9588633 NCBI chr 4:17,583,154...17,613,524
Ensembl chr 4:17,596,472...17,675,586
JBrowse link
G SLC2A4 solute carrier family 2 member 4 ISO RGD PMID:19043358 RGD:2313622 NCBI chr12:52,628,746...52,634,965
Ensembl chr12:52,628,450...52,634,967
JBrowse link
G SLC31A1 solute carrier family 31 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614111 NCBI chr 1:253,868,389...253,893,135
Ensembl chr 1:253,868,331...253,894,451
JBrowse link
G SLC6A4 solute carrier family 6 member 4 no_association
severity
onset
ISO associated with Anoxia
associated with Heart Septal Defects, Ventricular;DNA:polymorphisms (human)
DNA:polymorphism, repeat:promoter, intron (human)
associated with Pulmonary Disease, Chronic Obstructive;DNA:polymorphism (human)
DNA:repeat:promoter (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:11259539, PMID:16339917, PMID:16399993, PMID:18074800, PMID:18506000, PMID:19473340, PMID:19556740, PMID:19736308, PMID:19886858 RGD:4889430, RGD:4889432, RGD:4889434, RGD:4889435, RGD:4889437, RGD:4889440, RGD:4889442, RGD:4889445 NCBI chr12:46,285,995...46,328,377
Ensembl chr12:46,285,997...46,314,378
JBrowse link
G SLC8A1 solute carrier family 8 member A1 ISO protein:increased expression:pulmonary artery, smooth muscle cell RGD PMID:17192285 RGD:1642711 NCBI chr 3:99,823,503...100,257,306
Ensembl chr 3:99,897,162...100,245,140
JBrowse link
G SMAD1 SMAD family member 1 ISO protein:decreased expression, increased phosphorylation:lung
protein:decreased phosphorylation:lung, vascular associated smooth muscle cell
RGD PMID:17347486, PMID:18367643 RGD:12903274, RGD:1643222 NCBI chr 8:82,907,557...82,987,909
Ensembl chr 8:82,908,527...82,968,994
JBrowse link
G SMAD4 SMAD family member 4 ISO RGD PMID:17347486, PMID:18367643 RGD:12903274, RGD:1643222 NCBI chr 1:100,521,843...100,633,501
Ensembl chr 1:100,514,791...100,628,029
JBrowse link
G SMAD6 SMAD family member 6 ISO mRNA:decreased expression:lung RGD PMID:17347486 RGD:1643222 NCBI chr 1:164,652,602...164,735,084
Ensembl chr 1:164,657,086...164,735,083
JBrowse link
G SMAD7 SMAD family member 7 ISO RGD PMID:17347486 RGD:1643222 NCBI chr 1:98,512,800...98,543,924
Ensembl chr 1:98,510,229...98,542,382
JBrowse link
G SMAD9 SMAD family member 9 ISO RGD PMID:17347486 RGD:1643222 NCBI chr11:12,705,652...12,727,981
Ensembl chr11:12,705,359...12,763,008
JBrowse link
G SMPD3 sphingomyelin phosphodiesterase 3 treatment ISO RGD PMID:19088082 RGD:10042965 NCBI chr 6:28,938,287...29,025,397
Ensembl chr 6:28,938,290...29,025,357
JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20110409 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,651,280...7,691,723
JBrowse link
G TAC1 tachykinin precursor 1 ISO RGD PMID:12662901 RGD:5147638 NCBI chr 9:77,197,403...77,206,529
Ensembl chr 9:77,197,535...77,206,526
JBrowse link
G TACR1 tachykinin receptor 1 ISO RGD PMID:12662901 RGD:5147638 NCBI chr 3:67,839,367...68,021,733
Ensembl chr 3:67,839,411...68,021,728
JBrowse link
G TACR2 tachykinin receptor 2 ISO RGD PMID:12662901 RGD:5147638 NCBI chr14:72,463,405...72,476,034
Ensembl chr14:72,462,046...72,475,554
JBrowse link
G TEK TEK receptor tyrosine kinase ISO mRNA, protein:increased expression:lung RGD PMID:16917117 RGD:1601487 NCBI chr 1:195,938,177...196,052,294
Ensembl chr 1:195,937,394...196,051,957
JBrowse link
G TERT telomerase reverse transcriptase treatment ISO RGD PMID:24376652 RGD:11038675 NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421
JBrowse link
G TGFA transforming growth factor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18424623 NCBI chr 3:71,948,232...72,054,257
Ensembl chr 3:71,948,137...72,050,488
JBrowse link
G TGFB1 transforming growth factor beta 1 onset ISO DNA:SNPs: :multiple (human)
protein:increased expression:blood
RGD PMID:18496036, PMID:19324949 RGD:4145138, RGD:4145273 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,169...49,349,048
JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 ISO RGD PMID:18202349 RGD:2302019 NCBI chr 1:240,842,735...240,918,267
Ensembl chr 1:240,859,270...240,918,528
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO mRNA:decreased expression:lung RGD PMID:17392319 RGD:1601116 NCBI chr13:16,784,370...16,875,828
Ensembl chr13:16,784,491...16,878,165
JBrowse link
G THBD thrombomodulin ISO associated with Mixed Connective Tissue Disease RGD PMID:16784493 RGD:1601639 NCBI chr17:30,219,870...30,223,499
Ensembl chr17:30,221,819...30,230,177
JBrowse link
G THPO thrombopoietin ISO protein:increased expression:pulmonary artery, plasma RGD PMID:12487786 RGD:1580087 NCBI chr13:122,259,654...122,267,860
Ensembl chr13:122,260,216...122,267,861
JBrowse link
G TLR4 toll like receptor 4 ISO associated with anoxia RGD PMID:20205596 RGD:4144108 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,059,004
JBrowse link
G TNC tenascin C severity ISO protein:increased expression:plasma RGD PMID:15879421, PMID:16782755, PMID:19288153, PMID:20528622 RGD:4889562, RGD:4889564, RGD:4889567, RGD:4889570 NCBI chr 1:255,533,235...255,630,381
Ensembl chr 1:255,532,449...255,630,377
JBrowse link
G TNF tumor necrosis factor ISO associated with pulmonary disease, chronic obstructive; protein:increased expression:serum
associated with Pulmonary Edema; protein:increased expression:Bronchoalveolar Lavage Fluid
CTD Direct Evidence: therapeutic
RGD
CTD
PMID:2518282, PMID:9628235, PMID:12391106, PMID:16899829 RGD:4142833, RGD:4143280, RGD:4143422 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G TP53 tumor protein p53 treatment ISO RGD PMID:24334871 RGD:10043360 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,643...52,953,819
JBrowse link
G TP53BP1 tumor protein p53 binding protein 1 ISO protein:increased expression:lung RGD PMID:24270264 RGD:9586752 NCBI chr 1:127,958,500...128,032,370
Ensembl chr 1:127,958,518...128,028,718
JBrowse link
G TPH1 tryptophan hydroxylase 1 severity ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:17675372, PMID:18506000 RGD:5686352 NCBI chr 2:41,075,623...41,109,005
Ensembl chr 2:41,028,692...41,108,928
JBrowse link
G TPH2 tryptophan hydroxylase 2 severity ISO DNA:SNP: :1473C>G (mouse) RGD PMID:17675372 RGD:5686352 NCBI chr 5:35,917,159...36,016,981
Ensembl chr 5:35,918,569...36,017,514
JBrowse link
G TRPC3 transient receptor potential cation channel subfamily C member 3 ISO RGD PMID:15358862 RGD:1580490 NCBI chr 8:102,129,539...102,206,512
Ensembl chr 8:102,129,457...102,206,951
JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 ISO RGD PMID:15358862 RGD:1580490 NCBI chr 9:32,332,768...32,439,184
Ensembl chr 9:32,332,769...32,439,184
JBrowse link
G UTS2 urotensin 2 ISO RGD PMID:15042392 RGD:2306848 NCBI chr 6:68,552,889...68,560,827 JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO protein:increased expression:blood vessel endothelium RGD PMID:17934115 RGD:2298843 NCBI chr 4:117,496,914...117,511,211
Ensembl chr 4:117,496,908...117,511,226
JBrowse link
G VEGFB vascular endothelial growth factor B ISO RGD PMID:12547729 RGD:1625708 NCBI chr 2:7,872,873...7,876,149 JBrowse link
G VIP vasoactive intestinal peptide ISO RGD PMID:22140628 RGD:5685374 NCBI chr 1:13,611,786...13,620,250
Ensembl chr 1:13,611,311...13,620,269
JBrowse link
G VWF von Willebrand factor ISO RGD PMID:14507115 RGD:1580645 NCBI chr 5:64,516,627...64,655,938
Ensembl chr 5:64,519,186...65,002,098
JBrowse link
Dursun Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6PC3 glucose-6-phosphatase catalytic subunit 3 ISO ClinVar Annotator: match by term: Dursun syndrome ClinVar PMID:19011569, PMID:20799326, PMID:25741868 NCBI chr12:19,121,540...19,126,291
Ensembl chr12:19,121,541...19,126,296
JBrowse link
HUPRA Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SARS2 seryl-tRNA synthetase 2, mitochondrial ISO OMIM NCBI chr 6:47,717,363...47,728,394 JBrowse link
Neonatal Pulmonary Hypertension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPS1 carbamoyl-phosphate synthase 1 susceptibility ISO ClinVar Annotator: match by term: Pulmonary hypertension, neonatal, susceptibility to
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11407344, PMID:14718356, PMID:15465784, PMID:16708072, PMID:20154341, PMID:21767969 NCBI chr15:113,210,038...113,339,086
Ensembl chr15:113,209,999...113,339,078
JBrowse link
persistent fetal circulation syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAD2 adenosine deaminase domain containing 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 6:4,437,797...4,444,068
Ensembl chr 6:4,437,798...4,443,805
JBrowse link
G ATP2C2 ATPase secretory pathway Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 6:4,237,331...4,313,273
Ensembl chr 6:4,237,440...4,313,247
JBrowse link
G C6H16orf74 chromosome 6 C16orf74 homolog ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 6:3,156,781...3,211,165 JBrowse link
G CIBAR2 CBY1 interacting BAR domain containing 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 6:3,709,429...3,720,199
Ensembl chr 6:3,710,213...3,720,198
JBrowse link
G COTL1 coactosin like F-actin binding protein 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 6:4,099,341...4,146,281 JBrowse link
G COX4I1 cytochrome c oxidase subunit 4I1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 6:3,131,017...3,137,619
Ensembl chr 6:3,131,019...3,240,221
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO CTD Direct Evidence: marker/mechanism
CACD, OMIM:265380, DNA:polymorphism:T1405N
CTD
RGD
PMID:11407344 RGD:1600716 NCBI chr15:113,210,038...113,339,086
Ensembl chr15:113,209,999...113,339,078
JBrowse link
G CRISPLD2 cysteine rich secretory protein LCCL domain containing 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 6:3,881,715...3,944,592
Ensembl chr 6:3,881,725...3,944,580
JBrowse link
G DNAAF1 dynein axonemal assembly factor 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 6:4,457,283...4,483,641
Ensembl chr 6:4,457,291...4,479,828
JBrowse link
G EMC8 ER membrane protein complex subunit 8 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 6:3,137,630...3,152,291 JBrowse link
G FOXF1 forkhead box F1 ISO OMIM NCBI chr 6:2,579,348...2,598,122
Ensembl chr 6:2,592,993...2,597,659
JBrowse link
G GINS2 GINS complex subunit 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 6:3,218,655...3,252,740
Ensembl chr 6:3,218,700...3,250,352
JBrowse link
G GSE1 Gse1 coiled-coil protein ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 6:3,244,167...3,657,636
Ensembl chr 6:3,246,731...3,424,495
JBrowse link
G HSDL1 hydroxysteroid dehydrogenase like 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 6:4,479,916...4,501,245
Ensembl chr 6:4,479,932...4,501,237
JBrowse link
G IRF8 interferon regulatory factor 8 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 6:3,041,617...3,060,685
Ensembl chr 6:3,041,645...3,137,549
JBrowse link
G KCNG4 potassium voltage-gated channel modifier subfamily G member 4 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 6:4,411,265...4,430,548
Ensembl chr 6:4,412,165...4,430,684
JBrowse link
G KIAA0513 KIAA0513 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 6:3,724,784...3,786,285
Ensembl chr 6:3,724,786...3,786,241
JBrowse link
G KLHL36 kelch like family member 36 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 6:4,062,563...4,080,183
Ensembl chr 6:4,066,714...4,080,160
JBrowse link
G MBTPS1 membrane bound transcription factor peptidase, site 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 6:4,503,530...4,558,601
Ensembl chr 6:4,503,573...4,558,609
JBrowse link
G MEAK7 MTOR associated protein, eak-7 homolog ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 6:4,169,840...4,226,798
Ensembl chr 6:4,204,078...4,228,590
JBrowse link
G MLYCD malonyl-CoA decarboxylase ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 6:4,683,386...4,698,698
Ensembl chr 6:4,681,664...4,698,661
JBrowse link
G NECAB2 N-terminal EF-hand calcium binding protein 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 6:4,598,752...4,641,450 JBrowse link
G OSGIN1 oxidative stress induced growth inhibitor 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 6:4,642,762...4,656,113
Ensembl chr 6:4,642,762...4,675,813
JBrowse link
G SLC38A8 solute carrier family 38 member 8 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 6:4,563,967...4,593,667
Ensembl chr 6:4,564,541...4,600,789
JBrowse link
G STRA6 signaling receptor and transporter of retinol STRA6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17273977 NCBI chr 7:59,317,930...59,347,274
Ensembl chr 7:59,318,010...59,347,267
JBrowse link
G TAF1C TATA-box binding protein associated factor, RNA polymerase I subunit C ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 6:4,448,672...4,457,109
Ensembl chr 6:4,448,780...4,457,499
JBrowse link
G USP10 ubiquitin specific peptidase 10 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 6:3,977,235...4,043,539
Ensembl chr 6:3,977,229...4,043,534
JBrowse link
G WFDC1 WAP four-disulfide core domain 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 6:4,333,729...4,365,122
Ensembl chr 6:4,333,731...4,399,237
JBrowse link
G ZDHHC7 zinc finger DHHC-type palmitoyltransferase 7 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr 6:3,786,330...3,817,960
Ensembl chr 6:3,786,325...3,899,139
JBrowse link
primary pulmonary hypertension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVRL1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:9245985, PMID:12700602, PMID:14684682, PMID:15024723, PMID:15879500, PMID:15880681, PMID:16429404, PMID:16470787, PMID:16540754, PMID:16705692, PMID:18159113, PMID:19555857, PMID:20414677, PMID:20501893, PMID:21158752, PMID:22632830, PMID:23298310, PMID:23722869, PMID:24753439, PMID:25741868, PMID:26387786, PMID:27316748, PMID:28492532, PMID:29449337, PMID:32581362 NCBI chr 5:17,267,483...17,284,155
Ensembl chr 5:17,263,907...17,286,276
JBrowse link
G BMPR2 bone morphogenetic protein receptor type 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar Annotator: match by term: Pulmonary hypertension, primary, dexfenfluramine-associated
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia
ClinVar Annotator: match by term: Idiopathic and/or familial pulmonary arterial hypertension
ClinVar Annotator: match by term: Pulmonary hypertension, primary, fenfluramine-associated
CTD
ClinVar
PMID:3291115, PMID:10903931, PMID:10973254, PMID:11015450, PMID:11115378, PMID:11502704, PMID:12045205, PMID:12139571, PMID:12358323, PMID:12446270, PMID:12821254, PMID:14516151, PMID:14583445, PMID:14985116, PMID:15055271, PMID:15059534, PMID:15146475, PMID:15170098, PMID:15358693, PMID:15591269, PMID:15687131, PMID:15775752, PMID:15965979, PMID:16429395, PMID:16429403, PMID:16717148, PMID:16728714, PMID:18159113, PMID:18221724, PMID:18356561, PMID:18364108, PMID:18386374, PMID:18503968, PMID:18792970, PMID:19206171, PMID:19223935, PMID:19324947, PMID:19555857, PMID:19844076, PMID:20002458, PMID:20095988, PMID:20096498, PMID:20496075, PMID:20534176, PMID:21070126, PMID:21228398, PMID:21737554, PMID:21801371, PMID:22632830, PMID:22995991, PMID:23139147, PMID:23298310, PMID:23579436, PMID:23592887, PMID:23675998, PMID:24033266, PMID:24591673, PMID:24853021, PMID:24936649, PMID:25326637, PMID:25429696, PMID:25460361, PMID:25612240, PMID:25688877, PMID:25741868, PMID:25917481, PMID:26387786, PMID:26820968, PMID:27453251, PMID:27630060, PMID:27884767, PMID:28388887, PMID:28492532, PMID:28507310, PMID:29631995, PMID:29650961, PMID:29743074, PMID:29843651, PMID:30029678, PMID:30311386, PMID:30578397, PMID:32581362 NCBI chr15:105,971,577...106,132,496
Ensembl chr15:105,970,427...106,135,730
JBrowse link
G CAV1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:29,648,120...29,682,451
Ensembl chr18:29,649,992...29,682,465
JBrowse link
G ENG endoglin ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:18498373, PMID:23298310, PMID:24033266, PMID:25741868, PMID:26167679, PMID:26387786, PMID:28492532, PMID:30029678 NCBI chr 1:268,309,379...268,343,861
Ensembl chr 1:268,306,120...268,343,827
JBrowse link
G FOXF1 forkhead box F1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:19500772, PMID:19592680, PMID:19812545, PMID:20425831, PMID:22766610, PMID:23034409, PMID:23074687, PMID:23335808, PMID:23505205, PMID:23943206, PMID:24033266, PMID:24842713, PMID:26462560 NCBI chr 6:2,579,348...2,598,122
Ensembl chr 6:2,592,993...2,597,659
JBrowse link
G HDAC1 histone deacetylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22711276 NCBI chr 6:88,749,611...88,785,220
Ensembl chr 6:88,749,634...88,785,412
JBrowse link
G HDAC4 histone deacetylase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22711276 NCBI chr15:138,378,237...138,657,266
Ensembl chr15:138,381,627...138,614,301
JBrowse link
G HDAC5 histone deacetylase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22711276 NCBI chr12:19,077,910...19,119,463
Ensembl chr12:19,077,997...19,123,140
JBrowse link
G ID1 inhibitor of DNA binding 1, HLH protein ISO protein:decreased expression:lung, wall of arteriole (human) RGD PMID:20522807 RGD:9686087 NCBI chr17:35,316,518...35,317,742
Ensembl chr17:35,315,964...35,317,744
JBrowse link
G KCNA5 potassium voltage-gated channel subfamily A member 5 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:20018952, PMID:21685056, PMID:23861362, PMID:24068186, PMID:25076992, PMID:28492532 NCBI chr 5:65,439,336...65,442,207 JBrowse link
G KCNK3 potassium two pore domain channel subfamily K member 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary pulmonary hypertension
CTD
ClinVar
PMID:23883380 NCBI chr 3:112,322,446...112,359,212
Ensembl chr 3:112,322,446...112,359,212
JBrowse link
G NOP58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:23579436, PMID:26387786 NCBI chr15:105,893,589...105,930,458
Ensembl chr15:105,850,294...105,930,459
JBrowse link
G SMAD1 SMAD family member 1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:21898662, PMID:26387786 NCBI chr 8:82,907,557...82,987,909
Ensembl chr 8:82,908,527...82,968,994
JBrowse link
G SMAD4 SMAD family member 4 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:21898662, PMID:24728327, PMID:25502805, PMID:25741868, PMID:26387786, PMID:28492532 NCBI chr 1:100,521,843...100,633,501
Ensembl chr 1:100,514,791...100,628,029
JBrowse link
G SMAD9 SMAD family member 9 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary pulmonary hypertension
CTD
ClinVar
NCBI chr11:12,705,652...12,727,981
Ensembl chr11:12,705,359...12,763,008
JBrowse link
G TBX4 T-box transcription factor 4 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:25741868, PMID:31151956 NCBI chr12:36,803,355...36,830,321
Ensembl chr12:36,801,730...36,830,430
JBrowse link
Primary Pulmonary Hypertension, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR2 bone morphogenetic protein receptor type 2 ISO OMIM NCBI chr15:105,971,577...106,132,496
Ensembl chr15:105,970,427...106,135,730
JBrowse link
Primary Pulmonary Hypertension, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMAD9 SMAD family member 9 ISO OMIM NCBI chr11:12,705,652...12,727,981
Ensembl chr11:12,705,359...12,763,008
JBrowse link
Primary Pulmonary Hypertension, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR1B bone morphogenetic protein receptor type 1B ISO ClinVar Annotator: match by term: Primary pulmonary hypertension 3 ClinVar PMID:25741868 NCBI chr 8:124,536,648...125,035,841
Ensembl chr 8:124,536,648...124,841,530
JBrowse link
G CAV1 caveolin 1 ISO OMIM NCBI chr18:29,648,120...29,682,451
Ensembl chr18:29,649,992...29,682,465
JBrowse link
Primary Pulmonary Hypertension, 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNK3 potassium two pore domain channel subfamily K member 3 ISO OMIM NCBI chr 3:112,322,446...112,359,212
Ensembl chr 3:112,322,446...112,359,212
JBrowse link
Pulmonary Arterial Hypertension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:15976379, PMID:17597647, PMID:18246475, PMID:18317237, PMID:18603241, PMID:18676873, PMID:22145626, PMID:22304854, PMID:22434821, PMID:22435821, PMID:22800827, PMID:22866751, PMID:23166334, PMID:24033266, PMID:24136335, PMID:24871971, PMID:25073622, PMID:25553246, PMID:25741868, PMID:27374344, PMID:29505158 NCBI chr 3:39,689,133...39,732,466
Ensembl chr 3:39,689,202...39,732,979
JBrowse link
G ABI2 abl interactor 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:106,776,627...106,903,889
Ensembl chr15:106,776,625...106,900,334
JBrowse link
G ACVRL1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:11484689, PMID:15687131, PMID:16470787, PMID:16540754, PMID:16752392, PMID:17786384, PMID:18159113, PMID:18498373, PMID:18673552, PMID:19767588, PMID:20056902, PMID:20501893, PMID:21378382, PMID:22632830, PMID:23298310, PMID:23919827, PMID:24753439, PMID:25741868, PMID:26387786, PMID:28492532, PMID:29650961, PMID:30311386, PMID:32581362 NCBI chr 5:17,267,483...17,284,155
Ensembl chr 5:17,263,907...17,286,276
JBrowse link
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:105,328,717...105,401,152
Ensembl chr15:105,328,718...105,401,108
JBrowse link
G AOX1 aldehyde oxidase 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:104,157,748...104,234,533
Ensembl chr15:104,153,702...104,238,400
JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease ClinVar PMID:25741868, PMID:28492532, PMID:30029678 NCBI chr14:87,743,270...87,891,790
Ensembl chr14:87,742,459...87,891,793
JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease ClinVar PMID:25741868, PMID:30029678 NCBI chr 8:124,536,648...125,035,841
Ensembl chr 8:124,536,648...124,841,530
JBrowse link
G BMPR2 bone morphogenetic protein receptor type 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease
CTD
ClinVar
PMID:3291115, PMID:10903931, PMID:10973254, PMID:11015450, PMID:11115378, PMID:11502704, PMID:12358323, PMID:12821254, PMID:14985116, PMID:15059534, PMID:15146475, PMID:15358693, PMID:15591269, PMID:15965979, PMID:16429395, PMID:16717148, PMID:18159113, PMID:18356561, PMID:18503968, PMID:19555857, PMID:20002458, PMID:20096498, PMID:20534176, PMID:21737554, PMID:21801371, PMID:23298310, PMID:23579436, PMID:23592887, PMID:23675998, PMID:24591673, PMID:25429696, PMID:25612240, PMID:25741868, PMID:26387786, PMID:28415675, PMID:28492532, PMID:29843651, PMID:30029678, PMID:30311386, PMID:30578397, PMID:32581362 NCBI chr15:105,971,577...106,132,496
Ensembl chr15:105,970,427...106,135,730
JBrowse link
G BZW1 basic leucine zipper and W2 domains 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:104,525,900...104,543,795
Ensembl chr15:104,525,451...104,667,812
JBrowse link
G C2CD6 C2 calcium dependent domain containing 6 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:105,159,814...105,250,918
Ensembl chr15:105,105,234...105,250,563
JBrowse link
G CARF calcium responsive transcription factor ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:106,410,245...106,482,502
Ensembl chr15:106,410,491...106,488,027
JBrowse link
G CASP10 caspase 10 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:104,858,082...104,895,941
Ensembl chr15:104,858,100...104,894,933
JBrowse link
G CASP8 caspase 8 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:104,923,659...104,948,470
Ensembl chr15:104,923,953...104,948,470
JBrowse link
G CAV1 caveolin 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease ClinVar PMID:25741868, PMID:30029678 NCBI chr18:29,648,120...29,682,451
Ensembl chr18:29,649,992...29,682,465
JBrowse link
G CD28 CD28 molecule ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:107,128,103...107,155,431
Ensembl chr15:107,128,208...107,162,943
JBrowse link
G CDK15 cyclin dependent kinase 15 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:105,401,170...105,506,112
Ensembl chr15:105,401,164...105,506,117
JBrowse link
G CFLAR CASP8 and FADD like apoptosis regulator ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:104,780,744...104,835,631
Ensembl chr15:104,781,615...104,844,921
JBrowse link
G CLK1 CDC like kinase 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:104,553,512...104,562,348
Ensembl chr15:104,553,430...104,562,172
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,926...107,289,103
JBrowse link
G CYP20A1 cytochrome P450, family 20, subfamily A, polypeptide 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:106,696,722...106,763,126
Ensembl chr15:106,516,038...106,765,461
JBrowse link
G DNAH5 dynein axonemal heavy chain 5 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:11788826, PMID:22416021, PMID:25186273, PMID:26228299, PMID:28492532, PMID:30311386 NCBI chr16:3,114,267...3,366,189
Ensembl chr16:3,114,279...3,430,251
JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:29068549, PMID:30311386 NCBI chr 9:33,720,920...34,039,954
Ensembl chr 9:33,720,877...34,039,950
JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 1:131,244,818...131,355,240
Ensembl chr 1:131,245,463...131,355,224
JBrowse link
G ENG endoglin ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease
ClinVar PMID:10625079, PMID:12673790, PMID:15517393, PMID:15521985, PMID:16705692, PMID:18498373, PMID:19270816, PMID:21158752, PMID:22991266, PMID:23298310, PMID:23722869, PMID:24033266, PMID:25741868, PMID:26167679, PMID:26387786, PMID:28492532, PMID:30029678, PMID:32581362 NCBI chr 1:268,309,379...268,343,861
Ensembl chr 1:268,306,120...268,343,827
JBrowse link
G FAM117B family with sequence similarity 117 member B ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:106,183,217...106,284,318
Ensembl chr15:106,183,055...106,296,893
JBrowse link
G FAM126B family with sequence similarity 126 member B ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:104,665,720...104,747,688
Ensembl chr15:104,665,729...104,747,567
JBrowse link
G FLACC1 flagellum associated containing coiled-coil domains 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:104,950,504...104,986,350
Ensembl chr15:104,950,695...104,985,811
JBrowse link
G FZD7 frizzled class receptor 7 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:105,644,164...105,648,860
Ensembl chr15:105,644,188...105,648,854
JBrowse link
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr11:774,090...781,252 JBrowse link
G HYDIN HYDIN axonemal central pair apparatus protein ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr 6:13,895,276...14,307,790 JBrowse link
G ICA1L islet cell autoantigen 1 like ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:106,293,936...106,377,573
Ensembl chr15:106,295,902...106,377,555
JBrowse link
G ICOS inducible T cell costimulator ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:107,350,253...107,370,123
Ensembl chr15:107,350,203...107,370,123
JBrowse link
G KCNK3 potassium two pore domain channel subfamily K member 3 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 3:112,322,446...112,359,212
Ensembl chr 3:112,322,446...112,359,212
JBrowse link
G KCTD18 potassium channel tetramerization domain containing 18 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:104,070,208...104,099,300 JBrowse link
G MPP4 membrane palmitoylated protein 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:105,277,295...105,319,936
Ensembl chr15:105,276,822...105,319,030
JBrowse link
G NBEAL1 neurobeachin like 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:106,516,002...106,686,685
Ensembl chr15:106,516,038...106,765,461
JBrowse link
G NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:104,747,835...104,759,137
Ensembl chr15:104,747,678...104,759,139
JBrowse link
G NIF3L1 NGG1 interacting factor 3 like 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:104,583,736...104,606,507
Ensembl chr15:104,583,809...104,606,972
JBrowse link
G NOP58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:105,893,589...105,930,458
Ensembl chr15:105,850,294...105,930,459
JBrowse link
G ORC2 origin recognition complex subunit 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:104,612,727...104,656,558
Ensembl chr15:104,613,610...104,656,495
JBrowse link
G PHF6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr  X:110,249,010...110,311,503
Ensembl chr  X:110,159,873...110,303,017
JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:16144131, PMID:16283678, PMID:18602922, PMID:19283792, PMID:20205264, PMID:21239990, PMID:22658618, PMID:23012243, PMID:24033266, PMID:25525159, PMID:25637381, PMID:25741868, PMID:26467025, PMID:26895986, PMID:28492532, PMID:29489754 NCBI chr 3:5,118,002...5,145,634
Ensembl chr 3:5,113,230...5,145,634
JBrowse link
G PPIL3 peptidylprolyl isomerase like 3 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:104,569,138...104,583,752 JBrowse link
G RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:106,900,826...106,997,795 JBrowse link
G SGO2 shugoshin 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:104,099,378...104,150,723
Ensembl chr15:104,099,384...104,152,527
JBrowse link
G SMAD9 SMAD family member 9 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease ClinVar PMID:25741868, PMID:30004997, PMID:30029678 NCBI chr11:12,705,652...12,727,981
Ensembl chr11:12,705,359...12,763,008
JBrowse link
G SOD2 superoxide dismutase 2 ISO protein:decreased expression:small pulmonary artery
protein:decreased expression:pulmonary artery
RGD PMID:20529999 RGD:27095884 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,651,280...7,691,723
JBrowse link
G SPATS2L spermatogenesis associated serine rich 2 like ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:103,879,416...104,060,525
Ensembl chr15:103,879,356...104,060,525
JBrowse link
G STRADB STE20 related adaptor beta ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:105,055,218...105,083,429
Ensembl chr15:105,055,274...105,144,628
JBrowse link
G SUMO1 small ubiquitin like modifier 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:105,820,237...105,850,099
Ensembl chr15:105,815,281...105,850,943
JBrowse link
G TBX4 T-box transcription factor 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease ClinVar PMID:25741868, PMID:30029678, PMID:32581362 NCBI chr12:36,803,355...36,830,321
Ensembl chr12:36,801,730...36,830,430
JBrowse link
G TMEM237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:105,255,485...105,276,624
Ensembl chr15:105,252,479...105,276,771
JBrowse link
G TRAK2 trafficking kinesin protein 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:104,991,261...105,056,054
Ensembl chr15:104,991,726...105,055,024
JBrowse link
G WDR12 WD repeat domain 12 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr15:106,380,748...106,410,723
Ensembl chr15:106,380,755...106,410,416
JBrowse link
Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVRL1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED ClinVar PMID:8640225, PMID:9245985, PMID:10767348, PMID:11170071, PMID:11484689, PMID:12114496, PMID:12700602, PMID:12843319, PMID:14684682, PMID:15024723, PMID:15065824, PMID:15375013, PMID:15517393, PMID:15687131, PMID:15712271, PMID:15880681, PMID:16123970, PMID:16282348, PMID:16429404, PMID:16470787, PMID:16540754, PMID:16542389, PMID:16690726, PMID:16705692, PMID:16706966, PMID:17384219, PMID:17786384, PMID:18159113, PMID:18285823, PMID:18498373, PMID:18673552, PMID:19357124, PMID:20056902, PMID:20414677, PMID:20501893, PMID:21158752, PMID:21378382, PMID:21651515, PMID:22377182, PMID:22553411, PMID:22632830, PMID:22991266, PMID:23124896, PMID:23298310, PMID:23722869, PMID:23805858, PMID:23919827, PMID:24196379, PMID:25318803, PMID:25326635, PMID:25741868, PMID:25970827, PMID:26176610, PMID:26387786, PMID:28492532, PMID:30311386, PMID:32581362 NCBI chr 5:17,267,483...17,284,155
Ensembl chr 5:17,263,907...17,286,276
JBrowse link
G ENG endoglin ISO ClinVar Annotator: match by term: PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED ClinVar PMID:14684682, PMID:15024723, PMID:15115879, PMID:15687131, PMID:18156574, PMID:23919827, PMID:26387786, PMID:28492532 NCBI chr 1:268,309,379...268,343,861
Ensembl chr 1:268,306,120...268,343,827
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 chr 5:41,571,054...41,636,058 JBrowse link
G FIS1 fission, mitochondrial 1 ISO mRNA:increased expression:lung (rat) RGD PMID:23517027 RGD:12738217 NCBI chr 3:8,938,250...8,942,102
Ensembl chr 3:8,931,104...8,941,865
JBrowse link
G GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25373139 NCBI chr 8:44,448,758...44,520,737
Ensembl chr 8:44,449,232...44,518,135
JBrowse link
G HMOX1 heme oxygenase 1 ISO protein:increased expression:lung RGD PMID:21296072 RGD:10755745
G MFN2 mitofusin 2 ISO mRNA:decreased expression:lung (rat) RGD PMID:23517027 RGD:12738217 NCBI chr 6:72,026,512...72,056,439
Ensembl chr 6:72,026,722...72,056,439
JBrowse link
Pulmonary Hypertension, Hypoxia-Induced term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EGLN1 egl-9 family hypoxia inducible factor 1 ISO RGD PMID:16761101 RGD:11252085 NCBI chr14:59,113,527...59,168,421
Ensembl chr14:59,112,899...59,168,395
JBrowse link
G EGLN3 egl-9 family hypoxia inducible factor 3 ISO RGD PMID:16761101 RGD:11252085 NCBI chr 7:65,805,513...65,833,536
Ensembl chr 7:65,805,500...65,833,536
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase treatment ISO RGD PMID:25063801 RGD:10449119 NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,025,257...125,041,033
JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO mRNA:decreased expression:lung (rat) RGD PMID:19823174 RGD:4145499 NCBI chr14:110,608,422...110,635,825
Ensembl chr14:110,608,430...110,635,874
JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO mRNA:decreased expression:lung (rat) RGD PMID:19823174 RGD:4145499 NCBI chr 6:20,407,203...20,431,849
Ensembl chr 6:20,407,198...20,432,068
JBrowse link
G HPGD 15-hydroxyprostaglandin dehydrogenase ISO mRNA, protein:increased expression:lung RGD PMID:24657469 RGD:11667099 NCBI chr14:15,718,261...15,773,534
Ensembl chr14:15,718,266...15,763,710
JBrowse link
G MFN2 mitofusin 2 ISO mRNA, protein:decreased expression:lung (rat) RGD PMID:26485208 RGD:12910856 NCBI chr 6:72,026,512...72,056,439
Ensembl chr 6:72,026,722...72,056,439
JBrowse link
G NOG noggin ISO mRNA,protein:decreased expression:lung: RGD PMID:25740156 RGD:12801489 NCBI chr12:32,891,321...32,892,206
Ensembl chr12:32,891,321...32,892,206
JBrowse link
G NOS3 nitric oxide synthase 3 ISO mRNA,protein:increased expression:pulmonary artery RGD PMID:9950873 RGD:11533933 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
JBrowse link
G SLC39A12 solute carrier family 39 member 12 ISO RGD PMID:26258299 RGD:10401832 NCBI chr10:44,239,279...44,320,974
Ensembl chr10:44,239,274...44,320,974
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 chr 5:8,742,964...8,745,752
Ensembl chr 5:8,738,880...8,745,225
JBrowse link
G BMPR2 bone morphogenetic protein receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:105,971,577...106,132,496
Ensembl chr15:105,970,427...106,135,730
JBrowse link
G DDIT3 DNA damage inducible transcript 3 ISO protein:increased expression:lung, endothelial cell RGD PMID:32209028 RGD:38549370 NCBI chr 5:22,785,441...22,789,867
Ensembl chr 5:22,785,441...22,791,134
JBrowse link
G EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 ISO protein:increased expression:lung RGD PMID:32209028 RGD:38549370 NCBI chr 3:103,041,029...103,096,741
Ensembl chr 3:103,041,224...103,096,738
JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO protein:increased expression:lung RGD PMID:32209028 RGD:38549370 NCBI chr 3:57,423,894...57,506,247
Ensembl chr 3:57,423,875...57,506,247
JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 disease_progression ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:lung
CTD
RGD
PMID:24292273, PMID:32209028 RGD:38549370 NCBI chr 1:131,244,818...131,355,240
Ensembl chr 1:131,245,463...131,355,224
JBrowse link
G ERG ETS transcription factor ERG ISO protein:decreased expression:lung RGD PMID:32209028 RGD:38549370 NCBI chr13:201,999,237...202,302,572
Ensembl chr13:202,000,985...202,302,577
JBrowse link
G HMOX1 heme oxygenase 1 ISO protein:increased expression:lung, endothelial cell RGD PMID:32209028 RGD:38549370
G KCNK3 potassium two pore domain channel subfamily K member 3 ISO RGD PMID:32209028 RGD:38549370 NCBI chr 3:112,322,446...112,359,212
Ensembl chr 3:112,322,446...112,359,212
JBrowse link
Pulmonary Venoocclusive Disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR2 bone morphogenetic protein receptor type 2 ISO OMIM NCBI chr15:105,971,577...106,132,496
Ensembl chr15:105,970,427...106,135,730
JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1, autosomal dominant ClinVar PMID:24033266 NCBI chr 1:131,244,818...131,355,240
Ensembl chr 1:131,245,463...131,355,224
JBrowse link
Pulmonary Venoocclusive Disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO OMIM NCBI chr 1:131,244,818...131,355,240
Ensembl chr 1:131,245,463...131,355,224
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12617
    disease of anatomical entity 12149
      respiratory system disease 2493
        lung disease 1530
          pulmonary hypertension 279
            Dursun Syndrome 1
            Familial Cirrhosis with Pulmonary Hypertension 0
            HUPRA Syndrome 1
            Pulmonary Arterial Hypertension + 54
            Pulmonary Edema of Mountaineers 5
            Pulmonary Hypertension, Chronic Thromboembolic, without Deep Vein Thrombosis 0
            Pulmonary Hypertension, Hypoxia-Induced 10
            Rowley-Rosenberg Syndrome 0
            Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 0
            persistent fetal circulation syndrome 29
            primary pulmonary hypertension + 18
            pulmonary venoocclusive disease + 9
Path 2
Term Annotations click to browse term
  disease 12617
    disease of anatomical entity 12149
      cardiovascular system disease 3331
        vascular disease 2411
          artery disease 1600
            hypertension 806
              pulmonary hypertension 279
                Dursun Syndrome 1
                Familial Cirrhosis with Pulmonary Hypertension 0
                HUPRA Syndrome 1
                Pulmonary Arterial Hypertension + 54
                Pulmonary Edema of Mountaineers 5
                Pulmonary Hypertension, Chronic Thromboembolic, without Deep Vein Thrombosis 0
                Pulmonary Hypertension, Hypoxia-Induced 10
                Rowley-Rosenberg Syndrome 0
                Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 0
                persistent fetal circulation syndrome 29
                primary pulmonary hypertension + 18
                pulmonary venoocclusive disease + 9
paths to the root

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