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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 chr16:1,132,435...1,196,226
Ensembl chr16:2,376,006...2,437,427
JBrowse link
G ACE angiotensin I converting enzyme ISO CTD Direct Evidence: marker/mechanism CTD PMID:12359135 NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
JBrowse link
G ACE2 angiotensin I converting enzyme 2 ISO CTD Direct Evidence: therapeutic CTD PMID:31931441 NCBI chr  X:8,189,267...8,229,415
Ensembl chr  X:15,470,896...15,510,891
JBrowse link
G ACVRL1 activin A receptor like type 1 susceptibility
disease_progression
ISO mRNA:increased expression:lung
ClinVar Annotator: match by term: Pulmonary hypertension
associated with hereditary haemorrhagic telangiectasia;DNA:missense mutations
CTD Direct Evidence: marker/mechanism
DNA:mutations (human)
RGD
ClinVar
CTD
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 chr12:36,839,869...36,856,351
Ensembl chr12:37,615,888...37,631,691
JBrowse link
G ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide ISO RGD PMID:20431245 RGD:5128886 NCBI chr 4:91,470,304...91,487,854
Ensembl chr 4:102,134,375...102,151,902
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO RGD PMID:19168697 RGD:5686821 NCBI chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885
JBrowse link
G ADM adrenomedullin ISO RGD PMID:14718403 RGD:1625305 NCBI chr11:10,437,712...10,440,053
Ensembl chr11:10,165,418...10,167,842
JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO protein:increased expression:lung (human) RGD PMID:21041689 RGD:7244258 NCBI chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641
JBrowse link
G AGT angiotensinogen ISO RGD PMID:21381494 RGD:5129162 NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044
JBrowse link
G AGTR1 angiotensin II receptor type 1 onset ISO DNA:polymorphism:3' utr:1166A>C (human) RGD PMID:19332265 RGD:5147450 NCBI chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380
JBrowse link
G ALAS1 5'-aminolevulinate synthase 1 ISO mRNA:increased expression:lung (rat) RGD PMID:16181105 RGD:4144185 NCBI chr 3:52,140,423...52,156,656
Ensembl chr 3:53,369,522...53,385,361
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 chr10:42,461,398...42,531,576
Ensembl chr10:45,639,946...45,710,016
JBrowse link
G ALOX5AP arachidonate 5-lipoxygenase activating protein ISO protein:increased expression:artery RGD PMID:8647941, PMID:9445303 RGD:1626154, RGD:734558 NCBI chr13:12,012,399...12,041,557
Ensembl chr13:30,425,510...30,476,607
JBrowse link
G ANGPT1 angiopoietin 1 ISO protein:decreased expression:pulmonary artery RGD PMID:18073453 RGD:2316069 NCBI chr 8:103,893,234...104,137,661
Ensembl chr 8:106,042,041...106,286,783
JBrowse link
G ANGPT2 angiopoietin 2 ISO protein:increased expression:pulmonary artery (rat) RGD PMID:19712575 RGD:2314185 NCBI chr 8:718,367...782,534
Ensembl chr 8:6,506,014...6,566,915
JBrowse link
G APLN apelin ISO protein:decreased expression:plasma RGD PMID:16263185 RGD:1626175 NCBI chr  X:118,775,509...118,785,224 JBrowse link
G ARG2 arginase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24951775 NCBI chr14:48,197,831...48,231,829
Ensembl chr14:67,075,941...67,109,962
JBrowse link
G ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 treatment ISO RGD PMID:23804254, PMID:27144451 RGD:13782086, RGD:13782089 NCBI chr12:107,857,009...107,924,938
Ensembl chr12:111,246,508...111,311,923
JBrowse link
G ATP5F1A ATP synthase F1 subunit alpha treatment ISO chronic thromboembolic pulmonary hypertension RGD PMID:21396162 RGD:13703061 NCBI chr18:39,366,384...39,380,514
Ensembl chr18:42,904,136...42,923,326
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 chr21:12,169,567...12,180,717
Ensembl chr21:25,519,441...25,537,363
JBrowse link
G ATP7A ATPase copper transporting alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614111 NCBI chr  X:67,093,675...67,231,318
Ensembl chr  X:77,255,312...77,342,756
JBrowse link
G BCL2 BCL2 apoptosis regulator ISO protein:decreased expression:heart right ventricle RGD PMID:18441466 RGD:2293022 NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
JBrowse link
G BCL2L1 BCL2 like 1 treatment ISO RGD PMID:22559233 RGD:10400914 NCBI chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585
JBrowse link
G BDKRB2 bradykinin receptor B2 ISO RGD PMID:15878794 RGD:4890453 NCBI chr14:76,832,833...76,873,860
Ensembl chr14:96,156,494...96,196,253
JBrowse link
G BIRC5 baculoviral IAP repeat containing 5 ISO protein:increased expression:pulmonary artery RGD PMID:15931388 RGD:2293135 NCBI chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159
JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A ISO RGD PMID:19324947 RGD:5129472 NCBI chr10:83,185,040...83,353,239
Ensembl chr10:86,837,469...86,912,912
JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B ISO RGD PMID:19324947 RGD:5129472 NCBI chr 4:87,125,911...87,523,084
Ensembl chr 4:98,088,072...98,195,848
JBrowse link
G BMPR2 bone morphogenetic protein receptor type 2 disease_progression ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutations (human)
DNA:mutations: :multiple (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 chr2B:89,631,622...89,823,438
Ensembl chr2B:207,780,741...207,961,072
JBrowse link
G BRD4 bromodomain containing 4 ISO CTD Direct Evidence: therapeutic CTD PMID:26224795 NCBI chr19:14,768,239...14,805,770
Ensembl chr19:15,754,930...15,789,600
JBrowse link
G CA9 carbonic anhydrase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20110409 NCBI chr 9:35,525,877...35,533,159
Ensembl chr 9:36,328,303...36,335,340
JBrowse link
G CALCA calcitonin related polypeptide alpha ISO CTD Direct Evidence: therapeutic CTD PMID:1357980 NCBI chr11:15,055,897...15,061,539
Ensembl chr11:14,745,588...14,751,267
JBrowse link
G CASR calcium sensing receptor ISO protein:increased expression:pulmonary artery (rat) RGD PMID:22730443 RGD:7205669 NCBI chr 3:119,278,071...119,383,901
Ensembl chr 3:126,252,765...126,285,268
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 chr 7:108,497,125...108,533,090
Ensembl chr 7:121,193,424...121,229,655
JBrowse link
G CBLN2 cerebellin 2 precursor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23502781 NCBI chr18:65,906,154...66,010,195 JBrowse link
G CCL1 C-C motif chemokine ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22507635 NCBI chr17:22,425,022...22,430,243
Ensembl chr17:22,719,425...22,722,341
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:lung, plasma
protein:increased expression:bronchoalveolar lavage fluid (rat)
CTD
RGD
PMID:9605182, PMID:15302794, PMID:19087668, PMID:30418988 RGD:2307003, RGD:8549547 NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO protein:increased secretion:serum (human) RGD PMID:19932032 RGD:4891440 NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172
JBrowse link
G CCN2 cellular communication network factor 2 ISO protein:increased expression:pulmonary artery (rat) RGD PMID:19234054 RGD:2314535 NCBI chr 6:129,729,572...129,733,113
Ensembl chr 6:133,836,319...133,842,077
JBrowse link
G CD28 CD28 molecule ISO RGD PMID:19075187 RGD:5131619 NCBI chr2B:90,938,795...90,971,438
Ensembl chr2B:209,076,388...209,111,213
JBrowse link
G CD40 CD40 molecule treatment ISO RGD PMID:25998782 RGD:11344970 NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
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:125,776,138...125,788,820
Ensembl chr  X:136,042,849...136,058,202
JBrowse link
G CD86 CD86 molecule ISO protein:decreased expression:blood, myeloid dendritic cell (human) RGD PMID:19693657 RGD:4892293 NCBI chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A treatment ISO RGD PMID:24334871, PMID:24412385 RGD:10043360, RGD:10043361 NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B treatment ISO RGD PMID:22383500 RGD:10045357 NCBI chr12:12,742,258...12,747,404
Ensembl chr12:13,120,306...13,125,541
JBrowse link
G CLU clusterin ISO RGD PMID:25069740 RGD:9068424 NCBI chr 8:26,867,973...26,884,838
Ensembl chr 8:24,070,053...24,083,523
JBrowse link
G COL1A1 collagen type I alpha 1 chain treatment ISO RGD PMID:25867313 RGD:11041577 NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
JBrowse link
G COL4A1 collagen type IV alpha 1 chain treatment ISO RGD PMID:25867313 RGD:11041577 NCBI chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529
JBrowse link
G CRP C-reactive protein ISO associated with Pulmonary Disease, Chronic Obstructive RGD PMID:22333502 RGD:6482312 NCBI chr 1:135,062,102...135,064,402 JBrowse link
G CSF3 colony stimulating factor 3 treatment ISO RGD PMID:12524378, PMID:17186992 RGD:11039432, RGD:11039539 NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729
JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO associated with Heart Defects, Congenital
mRNA, protein:increased expression:lung
RGD PMID:18630689, PMID:19948918, PMID:20869263 RGD:4891883, RGD:4891887, RGD:4891889 NCBI chr16:37,646,447...37,659,078
Ensembl chr16:56,779,065...56,791,760
JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 ISO mRNA, protein:increased expression:lung
associated with Scleroderma, Systemic;DNA:polymorphisms: :p.V249I, p.T280M (human)
RGD PMID:16584113, PMID:17182651 RGD:4891893, RGD:4891896 NCBI chr 3:39,158,346...39,176,604
Ensembl chr 3:39,440,955...39,457,219
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15302794 NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083
JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 treatment ISO RGD PMID:21294880 RGD:6480473 NCBI chr2B:23,744,271...23,748,106
Ensembl chr2B:140,181,829...140,189,647
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO mRNA,protein:increased expression:lung RGD PMID:28956952 RGD:13702097 NCBI chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636
JBrowse link
G CYP2J2 cytochrome P450 family 2 subfamily J member 2 ISO RGD PMID:20118222 RGD:7243137 NCBI chr 1:59,151,079...59,184,625
Ensembl chr 1:60,856,269...60,889,810
JBrowse link
G CYSLTR1 cysteinyl leukotriene receptor 1 ISO associated with Anoxia RGD PMID:12910720 RGD:4848274 NCBI chr  X:67,412,410...67,469,366
Ensembl chr  X:77,524,455...77,525,468
JBrowse link
G ECE1 endothelin converting enzyme 1 ISO associated with Anoxia; RGD PMID:18767389 RGD:7243939 NCBI chr 1:20,166,019...20,290,803
Ensembl chr 1:21,206,199...21,278,909
JBrowse link
G EDN1 endothelin 1 ISO associated with Pulmonary Disease, Chronic Obstructive; protein:increased secretion:plasma (human)
Hypertension, Heritable Pulmonary Artery; mRNA:increased expression:bone marrow, macrophage (mouse)
Hypertension, Portopulmonary; protein:increased secretion:plasma (human)
CTD Direct Evidence: marker/mechanism
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 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545
JBrowse link
G EDN2 endothelin 2 ISO RGD PMID:10598486 RGD:1580918 NCBI chr 1:40,777,582...40,783,410
Ensembl chr 1:42,092,811...42,098,721
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 4:139,815,336...139,879,600
Ensembl chr 4:151,476,356...151,536,497
JBrowse link
G EDNRB endothelin receptor type B ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:15243299, PMID:15927975, PMID:18091567, PMID:20562228 RGD:1580949, RGD:4144877, RGD:4892289 NCBI chr13:59,112,349...59,136,615
Ensembl chr13:78,153,020...78,177,286
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 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
JBrowse link
G EGR1 early growth response 1 ISO mRNA, protein:increased expression:lung (rat)
mRNA, protein:increased expression:lung (mouse)
protein:increased expression:lung (human)
RGD PMID:18599502, PMID:20023177, PMID:20889906, PMID:21924231 RGD:10395308, RGD:5131875, RGD:5131883, RGD:5131890 NCBI chr 5:133,845,305...133,849,291
Ensembl chr 5:139,975,635...139,979,260
JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24292273 NCBI chr15:18,871,867...18,973,380
Ensembl chr15:37,120,044...37,229,211
JBrowse link
G ENG endoglin ISO RGD PMID:20042709 RGD:11041178 NCBI chr 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641
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 chr2A:46,403,411...46,492,734
Ensembl chr2A:47,332,308...47,421,560
JBrowse link
G EPHX2 epoxide hydrolase 2 ISO RGD PMID:19226702 RGD:5688731 NCBI chr 8:26,761,090...26,818,436
Ensembl chr 8:23,964,094...24,017,749
JBrowse link
G EPO erythropoietin treatment ISO RGD PMID:22559233 RGD:10400914 NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974
JBrowse link
G ESR1 estrogen receptor 1 ISO RGD PMID:20081107 RGD:4892253 NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551
JBrowse link
G ESR2 estrogen receptor 2 ISO RGD PMID:21700911 RGD:5508791 NCBI chr14:44,807,875...44,919,780
Ensembl chr14:63,064,402...63,131,303
JBrowse link
G F5 coagulation factor V ISO Chronic thromboembolic pulmonary hypertension (CTEPH) RGD PMID:20182352 RGD:4892669 NCBI chr 1:144,996,757...145,070,046
Ensembl chr 1:148,718,897...148,790,915
JBrowse link
G FBLN5 fibulin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12189163 NCBI chr14:72,504,240...72,583,160
Ensembl chr14:91,848,430...91,927,304
JBrowse link
G FGF2 fibroblast growth factor 2 ISO mRNA:increased expression:lung RGD PMID:19197140 RGD:2315911 NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO RGD PMID:19197140 RGD:2315911 NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904
JBrowse link
G FOXO1 forkhead box O1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr13:21,763,729...21,874,279 JBrowse link
G GATA4 GATA binding protein 4 ISO protein:increased expression:heart right ventricle RGD PMID:21059997 RGD:7207053 NCBI chr 8:7,442,921...7,526,731 JBrowse link
G GATA6 GATA binding protein 6 ISO mRNA, protein:decreased expression:lung
protein:decreased expression:lung, arteriole, venule (human)
RGD PMID:19842842, PMID:23583651 RGD:13208869, RGD:2314194 NCBI chr18:15,411,764...15,444,402 JBrowse link
G GDF2 growth differentiation factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26801773 NCBI chr10:46,520,808...46,526,414 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 6:119,213,513...119,227,617 JBrowse link
G GPR182 G protein-coupled receptor 182 ISO mRNA:increased expression:lung RGD PMID:12622928 RGD:1625768 NCBI chr12:31,929,288...31,933,243
Ensembl chr12:32,184,592...32,185,806
JBrowse link
G HAS1 hyaluronan synthase 1 ISO RGD PMID:19915162 RGD:9588633 NCBI chr19:48,657,165...48,668,130
Ensembl chr19:57,537,049...57,547,804
JBrowse link
G HAS2 hyaluronan synthase 2 ISO mRNA:increased expression:lung RGD PMID:19915162 RGD:9588633 NCBI chr 8:118,313,186...118,342,160
Ensembl chr 8:121,072,154...121,089,365
JBrowse link
G HAS3 hyaluronan synthase 3 ISO mRNA:decreased expression:lung RGD PMID:19915162 RGD:9588633 NCBI chr16:49,476,561...49,488,820
Ensembl chr16:68,868,416...68,877,476
JBrowse link
G HDAC1 histone deacetylase 1 ISO protein:increased expression:lung: RGD PMID:22711276 RGD:9590133 NCBI chr 1:31,578,373...31,619,970
Ensembl chr 1:32,585,791...32,626,410
JBrowse link
G HDAC2 histone deacetylase 2 ISO protein:decreased expression:lung: RGD PMID:22711276 RGD:9590133 NCBI chr 6:111,731,139...111,761,826
Ensembl chr 6:115,802,367...115,833,004
JBrowse link
G HDAC3 histone deacetylase 3 ISO protein:decreased expression:lung: RGD PMID:22711276 RGD:9590133 NCBI chr 5:136,981,790...136,997,786
Ensembl chr 5:143,094,406...143,110,322
JBrowse link
G HDAC4 histone deacetylase 4 ISO protein:increased expression:lung: RGD PMID:22711276 RGD:9590133 NCBI chr2B:126,287,745...126,649,815
Ensembl chr2B:245,123,061...245,427,054
JBrowse link
G HDAC5 histone deacetylase 5 ISO protein:increased expression:lung: RGD PMID:22711276 RGD:9590133 NCBI chr17:13,273,052...13,319,695
Ensembl chr17:13,446,836...13,479,140
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 chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885
JBrowse link
G HIF3A hypoxia inducible factor 3 subunit alpha ISO RGD PMID:16215633 RGD:10395375 NCBI chr19:43,243,290...43,326,146
Ensembl chr19:51,815,809...51,862,039
JBrowse link
G HK1 hexokinase 1 ISO mRNA:increased expression:lung RGD PMID:25767292 RGD:11353880 NCBI chr10:65,786,940...65,870,204
Ensembl chr10:68,289,288...68,401,045
JBrowse link
G HMGB1 high mobility group box 1 treatment ISO RGD PMID:25032709 RGD:10402082 NCBI chr13:11,737,942...11,894,923 JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:12750068 RGD:5508701 NCBI chr 5:39,936,630...39,961,519
Ensembl chr 5:40,548,919...40,573,785
JBrowse link
G HMOX1 heme oxygenase 1 ISO RGD PMID:14970910, PMID:19409105, PMID:20957739 RGD:1582715, RGD:4145307, RGD:4145325 NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063
JBrowse link
G HPGD 15-hydroxyprostaglandin dehydrogenase ISO mRNA, protein:increased expression:lung RGD PMID:24657469 RGD:11667099 NCBI chr 4:166,716,386...166,749,225
Ensembl chr 4:178,949,137...178,982,910
JBrowse link
G HTR2B 5-hydroxytryptamine receptor 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:14659797 NCBI chr2B:118,362,719...118,381,253
Ensembl chr2B:237,153,709...237,170,591
JBrowse link
G HYAL1 hyaluronidase 1 ISO mRNA:decreased expression:lung RGD PMID:19915162 RGD:9588633 NCBI chr 3:50,228,491...50,238,798
Ensembl chr 3:51,463,239...51,467,286
JBrowse link
G HYAL2 hyaluronidase 2 ISO mRNA:decreased expression:lung RGD PMID:19915162 RGD:9588633 NCBI chr 3:50,243,926...50,248,972
Ensembl chr 3:51,479,020...51,482,551
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 chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
JBrowse link
G ID1 inhibitor of DNA binding 1, HLH protein ISO RGD PMID:20522807 RGD:9686087 NCBI chr20:27,895,177...27,896,414
Ensembl chr20:28,535,582...28,536,311
JBrowse link
G IFNGR1 interferon gamma receptor 1 ISO mRNA: increased expression RGD PMID:20808962 RGD:4892610 NCBI chr 6:134,958,270...134,980,560
Ensembl chr 6:139,045,821...139,068,053
JBrowse link
G IL10 interleukin 10 disease_progression ISO protein:increased expression:serum RGD PMID:20713898 RGD:4142530 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
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 5:128,073,863...128,078,453
Ensembl chr 5:134,235,788...134,240,548
JBrowse link
G IL13RA1 interleukin 13 receptor subunit alpha 1 ISO RGD PMID:20671265, PMID:20808962 RGD:4892610, RGD:4892611 NCBI chr  X:107,735,233...107,813,282
Ensembl chr  X:118,202,285...118,266,770
JBrowse link
G IL13RA2 interleukin 13 receptor subunit alpha 2 ISO mRNA:increased expression:lung RGD PMID:20522789 RGD:4892612 NCBI chr  X:104,092,993...104,146,062
Ensembl chr  X:114,597,077...114,635,253
JBrowse link
G IL18 interleukin 18 ISO RGD PMID:17400729 RGD:4889590 NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
JBrowse link
G IL1B interleukin 1 beta ISO associated with Scleroderma, Limited;protein:increased expression:serum RGD PMID:20713898, PMID:20808962 RGD:4142530, RGD:4892610 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
G IL23R interleukin 23 receptor ISO associated with Scleroderma, Systemic;DNA:SNPs: :rs11209026, rs11465804 (human) RGD PMID:19918037 RGD:5096624 NCBI chr 1:66,408,839...66,502,535
Ensembl chr 1:68,293,514...68,386,815
JBrowse link
G IL4 interleukin 4 ISO RGD PMID:20889544 RGD:5128515 NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581
JBrowse link
G IL6 interleukin 6 disease_progression ISO RGD PMID:20693255, PMID:20713898 RGD:4142530, RGD:4143246 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G KCNA5 potassium voltage-gated channel subfamily A member 5 ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs:promoter, cds
CTD
RGD
PMID:17267549, PMID:17596340, PMID:20303989, PMID:27522126 RGD:1627651, RGD:1627654, RGD:7242752 NCBI chr12:5,165,057...5,168,307 JBrowse link
G KCNK3 potassium two pore domain channel subfamily K member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30365877 NCBI chr2A:26,688,938...26,729,860
Ensembl chr2A:26,780,475...26,819,123
JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28090300 NCBI chr10:73,391,297...74,158,488
Ensembl chr10:76,062,047...76,820,644
JBrowse link
G LEPR leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30689673 NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768
JBrowse link
G LOC100976787 mismatch repair endonuclease PMS2 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 7:7,433,031...7,459,560
Ensembl chr 7:6,167,403...6,202,984
JBrowse link
G LOC100977568 tenascin 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 9:86,125,672...86,222,804
Ensembl chr 9:114,486,778...114,584,299
JBrowse link
G LOC100982531 cytochrome b-245 heavy chain treatment ISO associated with Anoxia RGD PMID:18424632, PMID:18952568 RGD:4762683, RGD:4773907 NCBI chr  X:30,230,394...30,267,379
Ensembl chr  X:37,939,704...37,973,183
JBrowse link
G LOC100986914 cytochrome b-245 light chain ISO associated with Anoxia;mRNA, protein:increased expression:lung RGD PMID:18424632, PMID:18952568 RGD:4762683, RGD:4773907 NCBI chr16:69,356,396...69,364,225 JBrowse link
G LOC100991079 interleukin-1 receptor antagonist protein ISO RGD PMID:7946395 RGD:4143197 NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839
JBrowse link
G LOX lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614111 NCBI chr 5:117,450,833...117,464,957
Ensembl chr 5:123,234,662...123,248,717
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 treatment ISO RGD PMID:25907942 RGD:13800893 NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 treatment ISO RGD PMID:25907942 RGD:13800893 Ensembl chr16:30,489,362...30,498,017 JBrowse link
G MFN1 mitofusin 1 ISO protein:decreased expression:heart right ventricle (rat) RGD PMID:27422986 RGD:12910832 NCBI chr 3:176,378,175...176,423,943
Ensembl chr 3:184,552,108...184,596,763
JBrowse link
G MIF macrophage migration inhibitory factor ISO associated with sclerodema, systemic; protein:increased expression:serum RGD PMID:18618071 RGD:4891006 NCBI chr22:4,646,986...4,647,831
Ensembl chr22:22,730,807...22,732,009
JBrowse link
G MMP1 matrix metallopeptidase 1 ISO RGD PMID:23087098 RGD:7207217 NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104
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 chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO RGD PMID:23470622 RGD:10041039 NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor treatment ISO RGD PMID:22306243 RGD:7240564 NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863
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 7:98,227,071...98,262,254 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 chr20:47,734,054...47,910,435
Ensembl chr20:48,858,238...49,034,007
JBrowse link
G NOS2 nitric oxide synthase 2 onset ISO associated with Congenital diaphragmatic hernia; protein:decreased expression:pulmonary artery, endothelium
associated with heart disease; protein:increased expression:endothelial cell
associated with Scleroderma, Systemic; DNA:repeats, SNPs:promoter:(CCTTT), c.-1026C>T, c.-277A>G (human)
associated with Anoxia; protein:increased expression:pulmonary artery
associated with Anoxia; mouse gene in rat model
RGD PMID:11104748, PMID:16113050, PMID:16456243, PMID:16813666, PMID:19912632 RGD:1580936, RGD:1580940, RGD:4891462, RGD:4891468, RGD:5132602 NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093
JBrowse link
G NOS3 nitric oxide synthase 3 treatment
susceptibility
ISO CTD Direct Evidence: marker/mechanism
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
associated with heart disease; protein:increased expression:endothelial cell
associated with Beta-Thalassemia;DNA:repeats:intron:
mRNA, protein:increased expression:pulmonary endothelial cell
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 chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
JBrowse link
G NOX4 NADPH oxidase 4 ISO associated with Anoxia;mRNA, protein:increased expression:lung RGD PMID:18952568 RGD:4762683 NCBI chr11:84,330,362...84,496,755 JBrowse link
G NPPA natriuretic peptide A ISO RGD PMID:2136863 RGD:7247720 NCBI chr 1:10,608,025...10,610,287
Ensembl chr 1:11,825,072...11,827,373
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 1:10,621,416...10,622,960
Ensembl chr 1:11,838,518...11,839,995
JBrowse link
G PDE3A phosphodiesterase 3A ISO mRNA:increased expression:pulmonary artery RGD PMID:12466227 RGD:1582528 NCBI chr12:20,380,213...20,690,540
Ensembl chr12:20,763,999...21,064,391
JBrowse link
G PDE5A phosphodiesterase 5A ISO RGD PMID:19881228 RGD:2314460 NCBI chr 4:111,682,772...111,817,234
Ensembl chr 4:122,832,175...122,966,636
JBrowse link
G PDGFA platelet derived growth factor subunit A ISO RGD PMID:8447423 RGD:1580847 NCBI chr 7:648,722...672,023 JBrowse link
G PDGFB platelet derived growth factor subunit B ISO RGD PMID:8447423, PMID:21819559, PMID:22523431 RGD:1580847, RGD:6482831, RGD:6482859 NCBI chr22:20,127,223...20,148,407
Ensembl chr22:37,944,018...37,964,883
JBrowse link
G PDIA3 protein disulfide isomerase family A member 3 ISO protein:increased expression:lung: RGD PMID:23315792 RGD:9999167 NCBI chr15:22,706,520...22,731,672
Ensembl chr15:40,794,144...40,821,763
JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 treatment ISO RGD PMID:22559233 RGD:10400914 NCBI chr17:58,417,134...58,526,409
Ensembl chr17:63,511,784...63,579,067
JBrowse link
G PGF placental growth factor ISO associated with Heart Defects, Congenital
associated with Anemia, Sickle Cell;protein:increased expression:plasma
RGD PMID:20040765, PMID:20195855 RGD:6483588, RGD:6483610 NCBI chr14:55,494,152...55,508,066 JBrowse link
G PRKG1 protein kinase cGMP-dependent 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21351102 NCBI chr10:47,642,312...48,935,188
Ensembl chr10:49,779,211...51,064,882
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 chr20:45,841,238...45,905,641
Ensembl chr20:46,905,665...46,971,612
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO anoxia associated; RGD PMID:18542928, PMID:19577709 RGD:2300276, RGD:5135495 NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
JBrowse link
G PTK2 protein tyrosine kinase 2 ISO RGD PMID:16244766 RGD:1581290 NCBI chr 8:137,330,777...137,677,306
Ensembl chr 8:140,412,773...140,684,898
JBrowse link
G RAMP2 receptor activity modifying protein 2 ISO mRNA:increased expression:heart right ventricle RGD PMID:17437045 RGD:1642678 NCBI chr17:14,554,888...14,557,175
Ensembl chr17:14,779,666...14,781,481
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 chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868
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 3:49,282,009...49,339,887 JBrowse link
G SERPINA1 serpin family A member 1 ISO protein:decreased expression:serum RGD PMID:1836309, PMID:17444595 RGD:1643144, RGD:1643154 NCBI chr14:75,001,714...75,014,214
Ensembl chr14:94,334,258...94,345,419
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 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
JBrowse link
G SLC2A4 solute carrier family 2 member 4 ISO RGD PMID:19043358 RGD:2313622 NCBI chr17:7,312,605...7,319,430
Ensembl chr17:7,299,966...7,306,344
JBrowse link
G SLC31A1 solute carrier family 31 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614111 NCBI chr 9:84,319,304...84,362,288
Ensembl chr 9:112,691,503...112,734,352
JBrowse link
G SLC6A4 solute carrier family 6 member 4 no_association
onset
severity
ISO DNA:polymorphism, repeat:promoter, intron (human)
DNA:repeat:promoter (human)
associated with Anoxia
associated with Heart Septal Defects, Ventricular;DNA:polymorphisms (human)
CTD Direct Evidence: marker/mechanism
associated with Pulmonary Disease, Chronic Obstructive;DNA:polymorphism (human)
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 chr17:26,546,177...26,572,301
Ensembl chr17:27,050,900...27,092,882
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 chr2A:40,169,339...40,586,546
Ensembl chr2A:40,939,900...41,363,038
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 4:137,822,269...137,899,700
Ensembl chr 4:149,481,836...149,558,135
JBrowse link
G SMAD4 SMAD family member 4 ISO RGD PMID:17347486, PMID:18367643 RGD:12903274, RGD:1643222 NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359
JBrowse link
G SMAD6 SMAD family member 6 ISO mRNA:decreased expression:lung RGD PMID:17347486 RGD:1643222 NCBI chr15:45,648,709...45,728,821
Ensembl chr15:63,923,379...64,001,154
JBrowse link
G SMAD7 SMAD family member 7 ISO RGD PMID:17347486 RGD:1643222 NCBI chr18:42,306,324...42,337,214 JBrowse link
G SMAD9 SMAD family member 9 ISO RGD PMID:17347486 RGD:1643222 NCBI chr13:18,055,427...18,130,571
Ensembl chr13:36,486,597...36,521,646
JBrowse link
G SMPD3 sphingomyelin phosphodiesterase 3 treatment ISO RGD PMID:19088082 RGD:10042965 NCBI chr16:48,734,664...48,825,241
Ensembl chr16:68,131,905...68,142,871
JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20110409 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
JBrowse link
G TAC1 tachykinin precursor 1 ISO RGD PMID:12662901 RGD:5147638 NCBI chr 7:89,675,834...89,684,391
Ensembl chr 7:103,257,501...103,266,389
JBrowse link
G TACR1 tachykinin receptor 1 ISO RGD PMID:12662901 RGD:5147638 NCBI chr2A:75,111,339...75,267,320
Ensembl chr2A:76,614,478...76,771,018
JBrowse link
G TACR2 tachykinin receptor 2 ISO RGD PMID:12662901 RGD:5147638 NCBI chr10:65,872,795...65,885,154
Ensembl chr10:68,403,979...68,415,224
JBrowse link
G TEK TEK receptor tyrosine kinase ISO mRNA, protein:increased expression:lung RGD PMID:16917117 RGD:1601487 NCBI chr 9:26,955,339...27,077,809
Ensembl chr 9:27,561,421...27,683,572
JBrowse link
G TERT telomerase reverse transcriptase treatment ISO RGD PMID:24376652 RGD:11038675 NCBI chr 5:1,542,217...1,586,775
Ensembl chr 5:1,300,960...1,338,872
JBrowse link
G TGFA transforming growth factor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18424623 NCBI chr2A:70,510,727...70,617,628
Ensembl chr2A:71,625,196...71,731,461
JBrowse link
G TGFB1 transforming growth factor beta 1 onset ISO protein:increased expression:blood
DNA:SNPs: :multiple (human)
RGD PMID:18496036, PMID:19324949 RGD:4145138, RGD:4145273 NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 ISO RGD PMID:18202349 RGD:2302019 NCBI chr 9:70,195,007...70,243,514
Ensembl chr 9:98,332,739...98,362,748
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO mRNA:decreased expression:lung RGD PMID:17392319 RGD:1601116 NCBI chr 3:30,536,187...30,623,653
Ensembl chr 3:30,854,460...30,938,856
JBrowse link
G THBD thrombomodulin ISO associated with Mixed Connective Tissue Disease RGD PMID:16784493 RGD:1601639 NCBI chr20:22,992,341...22,996,415
Ensembl chr20:23,345,917...23,347,812
JBrowse link
G THPO thrombopoietin ISO protein:increased expression:pulmonary artery, plasma RGD PMID:12487786 RGD:1580087 NCBI chr 3:181,409,038...181,416,986
Ensembl chr 3:189,891,025...189,897,429
JBrowse link
G TLR4 toll like receptor 4 ISO associated with anoxia RGD PMID:20205596 RGD:4144108 NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: therapeutic
associated with Pulmonary Edema; protein:increased expression:Bronchoalveolar Lavage Fluid
associated with pulmonary disease, chronic obstructive; protein:increased expression:serum
CTD
RGD
PMID:2518282, PMID:9628235, PMID:12391106, PMID:16899829 RGD:4142833, RGD:4143280, RGD:4143422 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G TP53 tumor protein p53 treatment ISO RGD PMID:24334871 RGD:10043360 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
JBrowse link
G TP53BP1 tumor protein p53 binding protein 1 ISO protein:increased expression:lung RGD PMID:24270264 RGD:9586752 NCBI chr15:22,364,696...22,472,499
Ensembl chr15:40,519,012...40,626,741
JBrowse link
G TPH1 tryptophan hydroxylase 1 severity ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:17675372, PMID:18506000 RGD:5686352 NCBI chr11:18,070,576...18,099,539
Ensembl chr11:17,754,893...17,778,076
JBrowse link
G TPH2 tryptophan hydroxylase 2 severity ISO DNA:SNP: :1473C>G (mouse) RGD PMID:17675372 RGD:5686352 NCBI chr12:69,460,883...69,557,329
Ensembl chr12:72,318,908...72,412,557
JBrowse link
G TRPC3 transient receptor potential cation channel subfamily C member 3 ISO RGD PMID:15358862 RGD:1580490 NCBI chr 4:114,079,395...114,153,014
Ensembl chr 4:125,217,086...125,289,014
JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 ISO RGD PMID:15358862 RGD:1580490 NCBI chr11:96,414,498...96,551,670
Ensembl chr11:99,919,410...100,050,685
JBrowse link
G UTS2 urotensin 2 ISO RGD PMID:15042392 RGD:2306848 NCBI chr 1:6,609,104...6,616,966
Ensembl chr 1:7,854,687...7,864,688
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO protein:increased expression:blood vessel endothelium RGD PMID:17934115 RGD:2298843 NCBI chr 1:103,377,815...103,395,118
Ensembl chr 1:102,091,336...102,107,732
JBrowse link
G VEGFB vascular endothelial growth factor B ISO RGD PMID:12547729 RGD:1625708 NCBI chr11:59,591,750...59,595,926 JBrowse link
G VIP vasoactive intestinal peptide ISO RGD PMID:22140628 RGD:5685374 NCBI chr 6:150,564,545...150,573,582
Ensembl chr 6:155,254,652...155,263,730
JBrowse link
G VWF von Willebrand factor ISO RGD PMID:14507115 RGD:1580645 NCBI chr12:6,073,836...6,249,806
Ensembl chr12:5,990,612...6,165,153
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 chr17:13,320,104...13,326,112
Ensembl chr17:13,481,473...13,492,789
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 chr19:36,015,983...36,037,404
Ensembl chr19:44,565,214...44,568,594
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 chr2B:97,735,486...97,936,623
Ensembl chr2B:216,136,857...216,337,728
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 chr16:64,856,014...64,862,493
Ensembl chr16:84,198,190...84,204,243
JBrowse link
G ATP2C2 ATPase secretory pathway Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:65,033,470...65,127,403
Ensembl chr16:84,375,658...84,468,671
JBrowse link
G C16H16orf74 chromosome 16 C16orf74 homolog ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:66,374,434...66,418,478 JBrowse link
G CIBAR2 CBY1 interacting BAR domain containing 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:65,768,014...65,782,236
Ensembl chr16:85,106,709...85,120,815
JBrowse link
G COTL1 coactosin like F-actin binding protein 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:65,231,112...65,284,079
Ensembl chr16:84,572,816...84,625,177
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO CACD, OMIM:265380, DNA:polymorphism:T1405N
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:11407344 RGD:1600716 NCBI chr2B:97,735,486...97,936,623
Ensembl chr2B:216,136,857...216,337,728
JBrowse link
G CRISPLD2 cysteine rich secretory protein LCCL domain containing 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:65,488,965...65,578,502
Ensembl chr16:84,828,816...84,916,183
JBrowse link
G DNAAF1 dynein axonemal assembly factor 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:64,810,498...64,843,705 JBrowse link
G EMC8 ER membrane protein complex subunit 8 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:66,446,272...66,467,191
Ensembl chr16:85,784,653...85,805,465
JBrowse link
G FOXF1 forkhead box F1 ISO OMIM NCBI chr16:67,183,416...67,188,211
Ensembl chr16:86,516,119...86,519,949
JBrowse link
G GINS2 GINS complex subunit 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:66,344,706...66,356,079
Ensembl chr16:85,681,716...85,691,626
JBrowse link
G GSE1 Gse1 coiled-coil protein ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:65,838,691...66,340,644
Ensembl chr16:85,617,854...85,680,262
JBrowse link
G HSDL1 hydroxysteroid dehydrogenase like 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:64,788,471...64,810,423
Ensembl chr16:84,131,341...84,153,503
JBrowse link
G IRF8 interferon regulatory factor 8 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:66,568,370...66,591,949
Ensembl chr16:85,905,334...85,929,073
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 chr16:64,886,498...64,905,277
Ensembl chr16:84,228,460...84,246,857
JBrowse link
G KIAA0513 KIAA0513 ortholog ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:65,697,578...65,763,822
Ensembl chr16:85,035,898...85,096,623
JBrowse link
G KLHL36 kelch like family member 36 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:65,314,253...65,335,194
Ensembl chr16:84,656,009...84,670,664
JBrowse link
G LOC100969890 cytochrome c oxidase subunit 4 isoform 1, mitochondrial ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:66,467,259...66,474,652
Ensembl chr16:85,805,611...85,812,851
JBrowse link
G MBTPS1 membrane bound transcription factor peptidase, site 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:64,719,971...64,783,119
Ensembl chr16:84,063,508...84,126,000
JBrowse link
G MEAK7 MTOR associated protein, eak-7 homolog ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:65,141,319...65,167,898
Ensembl chr16:84,482,997...84,509,530
JBrowse link
G MLYCD malonyl-CoA decarboxylase ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:64,520,860...64,537,955
Ensembl chr16:83,912,793...83,929,162
JBrowse link
G NECAB2 N-terminal EF-hand calcium binding protein 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:64,636,198...64,670,019
Ensembl chr16:83,983,626...84,013,436
JBrowse link
G OSGIN1 oxidative stress induced growth inhibitor 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:64,616,454...64,633,920 JBrowse link
G SLC38A8 solute carrier family 38 member 8 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:64,676,787...64,709,083
Ensembl chr16:84,020,458...84,053,458
JBrowse link
G STRA6 signaling receptor and transporter of retinol STRA6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17273977 NCBI chr15:53,117,891...53,150,790
Ensembl chr15:72,741,482...72,770,876
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 chr16:64,843,197...64,852,408
Ensembl chr16:84,184,928...84,194,147
JBrowse link
G USP10 ubiquitin specific peptidase 10 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:65,367,463...65,447,549
Ensembl chr16:84,712,913...84,787,714
JBrowse link
G WFDC1 WAP four-disulfide core domain 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:64,958,920...64,994,314
Ensembl chr16:84,301,168...84,333,432
JBrowse link
G ZDHHC7 zinc finger DHHC-type palmitoyltransferase 7 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr16:65,643,906...65,681,301
Ensembl chr16:84,982,607...85,019,622
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 chr12:36,839,869...36,856,351
Ensembl chr12:37,615,888...37,631,691
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: Idiopathic and/or familial pulmonary arterial hypertension
ClinVar Annotator: match by term: Pulmonary hypertension, primary, fenfluramine-associated
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia
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 chr2B:89,631,622...89,823,438
Ensembl chr2B:207,780,741...207,961,072
JBrowse link
G CAV1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:108,497,125...108,533,090
Ensembl chr 7:121,193,424...121,229,655
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 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641
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 chr16:67,183,416...67,188,211
Ensembl chr16:86,516,119...86,519,949
JBrowse link
G HDAC1 histone deacetylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22711276 NCBI chr 1:31,578,373...31,619,970
Ensembl chr 1:32,585,791...32,626,410
JBrowse link
G HDAC4 histone deacetylase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22711276 NCBI chr2B:126,287,745...126,649,815
Ensembl chr2B:245,123,061...245,427,054
JBrowse link
G HDAC5 histone deacetylase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22711276 NCBI chr17:13,273,052...13,319,695
Ensembl chr17:13,446,836...13,479,140
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 chr20:27,895,177...27,896,414
Ensembl chr20:28,535,582...28,536,311
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 chr12:5,165,057...5,168,307 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 chr2A:26,688,938...26,729,860
Ensembl chr2A:26,780,475...26,819,123
JBrowse link
G NOP58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:23579436, PMID:26387786 NCBI chr2B:89,520,961...89,558,794
Ensembl chr2B:207,674,654...207,707,763
JBrowse link
G SMAD1 SMAD family member 1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:21898662, PMID:26387786 NCBI chr 4:137,822,269...137,899,700
Ensembl chr 4:149,481,836...149,558,135
JBrowse link
G SMAD4 SMAD family member 4 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:21898662, PMID:24728327, PMID:25502805, PMID:25741868, PMID:26387786, PMID:28492532 NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359
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 chr13:18,055,427...18,130,571
Ensembl chr13:36,486,597...36,521,646
JBrowse link
G TBX4 T-box transcription factor 4 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:25741868, PMID:31151956 NCBI chr17:55,554,549...55,587,253
Ensembl chr17:60,677,518...60,705,413
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 chr2B:89,631,622...89,823,438
Ensembl chr2B:207,780,741...207,961,072
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 chr13:18,055,427...18,130,571
Ensembl chr13:36,486,597...36,521,646
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 4:87,125,911...87,523,084
Ensembl chr 4:98,088,072...98,195,848
JBrowse link
G CAV1 caveolin 1 ISO OMIM NCBI chr 7:108,497,125...108,533,090
Ensembl chr 7:121,193,424...121,229,655
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 chr2A:26,688,938...26,729,860
Ensembl chr2A:26,780,475...26,819,123
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 chr16:1,132,435...1,196,226
Ensembl chr16:2,376,006...2,437,427
JBrowse link
G ABI2 abl interactor 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:90,561,708...90,663,072
Ensembl chr2B:208,702,092...208,797,499
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 chr12:36,839,869...36,856,351
Ensembl chr12:37,615,888...37,631,691
JBrowse link
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:88,954,167...89,034,764
Ensembl chr2B:207,108,952...207,189,623
JBrowse link
G AOX1 aldehyde oxidase 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:87,839,376...87,924,823
Ensembl chr2B:205,996,604...206,083,897
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 chr10:83,185,040...83,353,239
Ensembl chr10:86,837,469...86,912,912
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 4:87,125,911...87,523,084
Ensembl chr 4:98,088,072...98,195,848
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 chr2B:89,631,622...89,823,438
Ensembl chr2B:207,780,741...207,961,072
JBrowse link
G BZW1 basic leucine zipper and W2 domains 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:88,067,041...88,079,647
Ensembl chr2B:206,225,963...206,238,587
JBrowse link
G C2CD6 C2 calcium dependent domain containing 6 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:88,742,121...88,873,268 JBrowse link
G CARF calcium responsive transcription factor ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:90,145,504...90,224,042
Ensembl chr2B:208,291,742...208,367,028
JBrowse link
G CASP10 caspase 10 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:88,440,199...88,479,277
Ensembl chr2B:206,595,776...206,641,775
JBrowse link
G CASP8 caspase 8 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:88,490,611...88,542,132
Ensembl chr2B:206,669,544...206,696,468
JBrowse link
G CAV1 caveolin 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease ClinVar PMID:25741868, PMID:30029678 NCBI chr 7:108,497,125...108,533,090
Ensembl chr 7:121,193,424...121,229,655
JBrowse link
G CD28 CD28 molecule ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:90,938,795...90,971,438
Ensembl chr2B:209,076,388...209,111,213
JBrowse link
G CDK15 cyclin dependent kinase 15 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:89,060,334...89,149,106
Ensembl chr2B:207,215,058...207,304,029
JBrowse link
G CFLAR CASP8 and FADD like apoptosis regulator ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:88,373,057...88,429,959
Ensembl chr2B:206,528,943...206,577,045
JBrowse link
G CLK1 CDC like kinase 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:88,108,885...88,120,523
Ensembl chr2B:206,267,364...206,278,942
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
JBrowse link
G CYP20A1 cytochrome P450 family 20 subfamily A member 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:90,473,024...90,539,177
Ensembl chr2B:208,615,273...208,672,731
JBrowse link
G DNAH5 dynein axonemal heavy chain 5 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:11788826, PMID:22416021, PMID:25186273, PMID:26228299, PMID:28492532, PMID:30311386 NCBI chr 5:13,989,114...14,316,855
Ensembl chr 5:13,851,391...14,093,358
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 chr11:98,051,788...98,425,676
Ensembl chr11:101,536,471...101,909,194
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 chr15:18,871,867...18,973,380
Ensembl chr15:37,120,044...37,229,211
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 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641
JBrowse link
G FAM117B family with sequence similarity 117 member B ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:89,896,400...90,030,724
Ensembl chr2B:208,042,146...208,173,180
JBrowse link
G FAM126B family with sequence similarity 126 member B ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:88,231,222...88,329,311
Ensembl chr2B:206,395,627...206,487,785
JBrowse link
G FLACC1 flagellum associated containing coiled-coil domains 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:88,541,496...88,618,269
Ensembl chr2B:206,697,119...206,766,071
JBrowse link
G FZD7 frizzled class receptor 7 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:89,290,929...89,294,873
Ensembl chr2B:207,439,942...207,446,283
JBrowse link
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr13:1,514,714...1,520,239
Ensembl chr13:19,831,274...19,831,954
JBrowse link
G HYDIN HYDIN axonemal central pair apparatus protein ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr16:53,785,727...54,210,088
Ensembl chr16:70,661,924...71,063,631
JBrowse link
G ICA1L islet cell autoantigen 1 like ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:90,034,205...90,105,600
Ensembl chr2B:208,184,023...208,251,254
JBrowse link
G ICOS inducible T cell costimulator ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:91,168,998...91,193,808
Ensembl chr2B:209,307,938...209,332,734
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 chr2A:26,688,938...26,729,860
Ensembl chr2A:26,780,475...26,819,123
JBrowse link
G KCTD18 potassium channel tetramerization domain containing 18 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:87,742,323...87,763,530
Ensembl chr2B:205,900,032...205,920,776
JBrowse link
G LOC100976787 mismatch repair endonuclease PMS2 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 7:7,433,031...7,459,560
Ensembl chr 7:6,167,403...6,202,984
JBrowse link
G MPP4 membrane palmitoylated protein 4 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:88,898,091...88,951,597
Ensembl chr2B:207,053,077...207,102,360
JBrowse link
G NBEAL1 neurobeachin like 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:90,250,567...90,459,507
Ensembl chr2B:208,395,950...208,594,273
JBrowse link
G NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:88,329,424...88,343,180
Ensembl chr2B:206,487,905...206,501,709
JBrowse link
G NIF3L1 NGG1 interacting factor 3 like 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:88,145,137...88,161,319
Ensembl chr2B:206,303,931...206,319,810
JBrowse link
G NOP58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:89,520,961...89,558,794
Ensembl chr2B:207,674,654...207,707,763
JBrowse link
G ORC2 origin recognition complex subunit 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:88,166,351...88,221,618
Ensembl chr2B:206,325,661...206,380,647
JBrowse link
G PHF6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr  X:123,521,956...123,578,256
Ensembl chr  X:133,822,260...133,873,990
JBrowse link
G PPIL3 peptidylprolyl isomerase like 3 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:88,126,756...88,145,203 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 chr2B:90,664,717...90,766,088
Ensembl chr2B:208,765,847...208,865,624
JBrowse link
G SGO2 shugoshin 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:87,779,677...87,837,285
Ensembl chr2B:205,943,783...205,994,197
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 chr13:18,055,427...18,130,571
Ensembl chr13:36,486,597...36,521,646
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 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
JBrowse link
G SPATS2L spermatogenesis associated serine rich 2 like ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:87,558,298...87,735,646
Ensembl chr2B:205,800,294...205,889,626
JBrowse link
G STRADB STE20 related adaptor beta ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:88,705,840...88,735,511
Ensembl chr2B:206,864,319...206,890,868
JBrowse link
G SUMO1 small ubiquitin like modifier 1 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:89,461,773...89,493,879 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 chr17:55,554,549...55,587,253
Ensembl chr17:60,677,518...60,705,413
JBrowse link
G TMEM237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:88,873,362...88,896,689
Ensembl chr2B:207,028,061...207,051,206
JBrowse link
G TRAK2 trafficking kinesin protein 2 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:88,630,665...88,705,709
Ensembl chr2B:206,785,541...206,861,102
JBrowse link
G WDR12 WD repeat domain 12 ISO ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr2B:90,112,037...90,145,520
Ensembl chr2B:208,260,696...208,291,783
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 chr12:36,839,869...36,856,351
Ensembl chr12:37,615,888...37,631,691
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 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641
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 chr12:53,476,553...53,541,421
Ensembl chr12:56,077,504...56,142,376
JBrowse link
G FIS1 fission, mitochondrial 1 ISO mRNA:increased expression:lung (rat) RGD PMID:23517027 RGD:12738217 NCBI chr 7:93,381,058...93,386,483
Ensembl chr 7:106,621,211...106,626,683
JBrowse link
G GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25373139 NCBI chr 4:148,032,167...148,102,757
Ensembl chr 4:159,850,107...159,913,338
JBrowse link
G HMOX1 heme oxygenase 1 ISO protein:increased expression:lung RGD PMID:21296072 RGD:10755745 NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063
JBrowse link
G MFN2 mitofusin 2 ISO mRNA:decreased expression:lung (rat) RGD PMID:23517027 RGD:12738217 NCBI chr 1:10,729,933...10,764,865
Ensembl chr 1:11,945,880...11,981,077
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 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain susceptibility ISO DNA:polymorphisms:cds:HLA-DPB1*0202 (human) RGD PMID:19165231 RGD:5143999 NCBI chr 6:32,648,780...32,659,613
Ensembl chr 6:33,763,566...33,774,387
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 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
JBrowse link
G EGLN1 egl-9 family hypoxia inducible factor 1 ISO RGD PMID:16761101 RGD:11252085 NCBI chr 1:206,915,541...206,976,656 JBrowse link
G EGLN3 egl-9 family hypoxia inducible factor 3 ISO RGD PMID:16761101 RGD:11252085 NCBI chr14:14,689,398...14,716,301
Ensembl chr14:32,880,324...32,907,241
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase treatment ISO RGD PMID:25063801 RGD:10449119 NCBI chr  X:143,972,798...143,988,960
Ensembl chr  X:153,843,092...153,860,674
JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO mRNA:decreased expression:lung (rat) RGD PMID:19823174 RGD:4145499 NCBI chr10:96,012,345...96,046,266
Ensembl chr10:99,506,205...99,540,178
JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO mRNA:decreased expression:lung (rat) RGD PMID:19823174 RGD:4145499 NCBI chr16:38,995,770...39,022,750
Ensembl chr16:58,120,781...58,147,378
JBrowse link
G HPGD 15-hydroxyprostaglandin dehydrogenase ISO mRNA, protein:increased expression:lung RGD PMID:24657469 RGD:11667099 NCBI chr 4:166,716,386...166,749,225
Ensembl chr 4:178,949,137...178,982,910
JBrowse link
G MFN2 mitofusin 2 ISO mRNA, protein:decreased expression:lung (rat) RGD PMID:26485208 RGD:12910856 NCBI chr 1:10,729,933...10,764,865
Ensembl chr 1:11,945,880...11,981,077
JBrowse link
G NOG noggin ISO mRNA,protein:decreased expression:lung: RGD PMID:25740156 RGD:12801489 NCBI chr17:50,669,186...50,671,081
Ensembl chr17:55,532,394...55,533,092
JBrowse link
G NOS3 nitric oxide synthase 3 ISO mRNA,protein:increased expression:pulmonary artery RGD PMID:9950873 RGD:11533933 NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
JBrowse link
G SLC39A12 solute carrier family 39 member 12 ISO RGD PMID:26258299 RGD:10401832 NCBI chr10:18,270,652...18,362,558
Ensembl chr10:18,541,859...18,698,851
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 chr22:20,426,743...20,428,892
Ensembl chr22:38,248,094...38,249,249
JBrowse link
G BMPR2 bone morphogenetic protein receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr2B:89,631,622...89,823,438
Ensembl chr2B:207,780,741...207,961,072
JBrowse link
G DDIT3 DNA damage inducible transcript 3 ISO protein:increased expression:lung, endothelial cell RGD PMID:32209028 RGD:38549370 NCBI chr12:31,406,332...31,410,293
Ensembl chr12:31,664,743...31,668,701
JBrowse link
G EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 ISO protein:increased expression:lung RGD PMID:32209028 RGD:38549370 NCBI chr2A:37,130,386...37,184,587
Ensembl chr2A:37,895,814...37,941,686
JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO protein:increased expression:lung RGD PMID:32209028 RGD:38549370 NCBI chr2A:87,688,732...87,759,580
Ensembl chr2A:89,596,833...89,667,468
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 chr15:18,871,867...18,973,380
Ensembl chr15:37,120,044...37,229,211
JBrowse link
G ERG ETS transcription factor ERG ISO protein:decreased expression:lung RGD PMID:32209028 RGD:38549370 NCBI chr21:24,737,829...25,016,378
Ensembl chr21:38,087,339...38,281,403
JBrowse link
G HMOX1 heme oxygenase 1 ISO protein:increased expression:lung
protein:increased expression:lung, endothelial cell
RGD PMID:32209028 RGD:38549370 NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063
JBrowse link
G KCNK3 potassium two pore domain channel subfamily K member 3 ISO RGD PMID:32209028 RGD:38549370 NCBI chr2A:26,688,938...26,729,860
Ensembl chr2A:26,780,475...26,819,123
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 chr2B:89,631,622...89,823,438
Ensembl chr2B:207,780,741...207,961,072
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 chr15:18,871,867...18,973,380
Ensembl chr15:37,120,044...37,229,211
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 chr15:18,871,867...18,973,380
Ensembl chr15:37,120,044...37,229,211
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12749
    disease of anatomical entity 12279
      respiratory system disease 2475
        lung disease 1497
          pulmonary hypertension 275
            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 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 29
            primary pulmonary hypertension + 18
            pulmonary venoocclusive disease + 9
Path 2
Term Annotations click to browse term
  disease 12749
    disease of anatomical entity 12279
      cardiovascular system disease 3300
        vascular disease 2374
          artery disease 1590
            hypertension 806
              pulmonary hypertension 275
                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 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 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.