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
Accession: DOID:6432
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 .
G
Abca3
ATP binding cassette subfamily A member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26780485
NCBI chr10:13,723,365...13,780,558
Ensembl chr10:13,723,405...13,779,963
G
Ace
angiotensin I converting enzyme
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12359135
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
G
Ace2
angiotensin I converting enzyme 2
treatment
ISO
CTD Direct Evidence: therapeutic human protein in a rat model
CTD
PMID:31931441 , PMID:25225206
RGD:40818280
NCBI chr X:32,050,734...32,095,860
Ensembl chr X:32,049,931...32,096,016
G
Acvrl1
activin A receptor like type 1
susceptibility disease_progression
ISO IEP
associated with hereditary haemorrhagic telangiectasia;DNA:missense mutations ClinVar Annotator: match by term: Pulmonary hypertension CTD Direct Evidence: marker/mechanism DNA:mutations (human) mRNA:increased expression:lung
ClinVar CTD
PMID:11484689 PMID:15687131 PMID:16540754 PMID:17786384 PMID:18159113 PMID:20056902 PMID:20501893 PMID:21378382 PMID:22632830 PMID:23298310 PMID:23919827 PMID:25741868 PMID:26387786 PMID:26540443 PMID:28492532 PMID:32581362 , PMID:14684682 , PMID:20056902 , PMID:17392319
RGD:1601117 , RGD:5128837 , RGD:1601116
NCBI chr 7:142,769,942...142,787,336
Ensembl chr 7:142,776,252...142,787,335
G
Adh5
alcohol dehydrogenase 5 (class III), chi polypeptide
ISO
RGD
PMID:20431245
RGD:5128886
NCBI chr 2:243,728,500...243,740,907
Ensembl chr 2:243,700,784...243,740,899
G
Adipoq
adiponectin, C1Q and collagen domain containing
ISO
RGD
PMID:19168697
RGD:5686821
NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
G
Adm
adrenomedullin
ISO
RGD
PMID:14718403
RGD:1625305
NCBI chr 1:175,443,189...175,447,260
Ensembl chr 1:175,445,088...175,447,259
G
Ager
advanced glycosylation end product-specific receptor
ISO
protein:increased expression:lung (human)
RGD
PMID:21041689
RGD:7244258
NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
G
Agt
angiotensinogen
IDA
RGD
PMID:21381494
RGD:5129162
NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
G
Agtr1a
angiotensin II receptor, type 1a
onset
ISO
DNA:polymorphism:3' utr:1166A>C (human)
RGD
PMID:19332265
RGD:5147450
NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
G
Alas1
5'-aminolevulinate synthase 1
IEP
mRNA:increased expression:lung (rat)
RGD
PMID:16181105
RGD:4144185
NCBI chr 8:114,927,704...114,941,038
Ensembl chr 8:114,927,722...114,940,177
G
Alox5
arachidonate 5-lipoxygenase
treatment
ISO IEP IMP IDA
protein:increased expression:artery CTD Direct Evidence: marker/mechanism
CTD
PMID:14726295 , PMID:9445303 , PMID:31462075 , PMID:31462075 , PMID:14726295 , PMID:8647941
RGD:1626154 , RGD:14975304 , RGD:14975304 , RGD:4890418 , RGD:734558
NCBI chr 4:148,398,004...148,446,308
Ensembl chr 4:148,398,892...148,446,303
G
Alox5ap
arachidonate 5-lipoxygenase activating protein
ISO IMP
protein:increased expression:artery
RGD
PMID:9445303 , PMID:8647941
RGD:1626154 , RGD:734558
NCBI chr12:6,854,930...6,879,112
Ensembl chr12:6,854,920...6,879,154
G
Angpt1
angiopoietin 1
IEP
protein:decreased expression:pulmonary artery
RGD
PMID:18073453
RGD:2316069
NCBI chr 7:81,338,327...81,592,459
Ensembl chr 7:81,342,280...81,592,206
G
Angpt2
angiopoietin 2
IEP
protein:increased expression:pulmonary artery (rat)
RGD
PMID:19712575
RGD:2314185
NCBI chr16:75,966,480...76,016,147
Ensembl chr16:75,966,352...76,016,195
G
Apln
apelin
ISO
protein:decreased expression:plasma
RGD
PMID:16263185
RGD:1626175
NCBI chr X:134,856,719...134,866,210
Ensembl chr X:134,856,726...134,866,210
G
Arg2
arginase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24951775
NCBI chr 6:102,311,097...102,338,406
Ensembl chr 6:102,311,116...102,338,520
G
Atp2a2
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
treatment
IEP ISO
RGD
PMID:27144451 , PMID:23804254
RGD:13782086 , RGD:13782089
NCBI chr12:39,553,903...39,603,326
Ensembl chr12:39,553,903...39,603,326
G
Atp5f1a
ATP synthase F1 subunit alpha
treatment
IDA
chronic thromboembolic pulmonary hypertension
RGD
PMID:21396162
RGD:13703061
NCBI chr18:74,156,553...74,164,490
Ensembl chr18:74,156,553...74,164,495
G
Atp5pf
ATP synthase peripheral stalk subunit F6
treatment
IEP IMP
mRNA, protein:increased expression:lung, plasma (rat)
RGD
PMID:27916219 , PMID:27491388
RGD:13800892 , RGD:13800894
NCBI chr11:24,286,806...24,294,419
Ensembl chr11:24,286,787...24,294,179
G
Atp7a
ATPase copper transporting alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24614111
NCBI chr X:77,076,085...77,193,644
Ensembl chr X:77,076,106...77,193,644
G
Bcl2
BCL2, apoptosis regulator
IEP
protein:decreased expression:heart right ventricle
RGD
PMID:18441466
RGD:2293022
NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
G
Bcl2l1
Bcl2-like 1
treatment
IDA
RGD
PMID:22559233
RGD:10400914
NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
G
Bdkrb2
bradykinin receptor B2
IDA
RGD
PMID:15878794
RGD:4890453
NCBI chr 6:129,399,468...129,429,676
Ensembl chr 6:129,399,468...129,429,676
G
Birc5
baculoviral IAP repeat-containing 5
IMP IEP
protein:increased expression:pulmonary artery
RGD
PMID:15931388 , PMID:15931388
RGD:2293135 , RGD:2293135
NCBI chr10:106,856,097...106,864,419
Ensembl chr10:106,856,097...106,864,413
G
Bmpr1a
bone morphogenetic protein receptor type 1A
ISO
RGD
PMID:19324947
RGD:5129472
NCBI chr16:10,758,278...10,852,170
Ensembl chr16:10,758,527...10,802,512
G
Bmpr1b
bone morphogenetic protein receptor type 1B
ISO
RGD
PMID:19324947
RGD:5129472
NCBI chr 2:247,392,195...247,662,026
Ensembl chr 2:247,403,920...247,446,882
G
Bmpr2
bone morphogenetic protein receptor type 2
treatment disease_progression
ISO IMP IEP
DNA:mutations: :multiple (human) induced by human ad-ALOX5 protein:decreased expression:lung CTD Direct Evidence: marker/mechanism DNA:missense mutations (human)
CTD
PMID:11590841 PMID:11893684 PMID:12358323 PMID:16297860 PMID:20496075 PMID:20522807 PMID:23383100 PMID:23502781 PMID:24224048 , PMID:20002458 , PMID:31462075 , PMID:21737550 , PMID:25593290 , PMID:19324947 , PMID:19785764 , PMID:20534176 , PMID:18663089 , PMID:15775752
RGD:5129238 , RGD:14975304 , RGD:38500243 , RGD:38500244 , RGD:5129472 , RGD:5129239 , RGD:5129237 , RGD:5129474 , RGD:1580076
NCBI chr 9:66,568,074...66,683,019
Ensembl chr 9:66,568,074...66,676,494
G
Bmpr2em1Sage
bone morphogenetic protein receptor type 2; ZFN induced mutant 1, Sage
IMP
induced by human ad-ALOX5
RGD
PMID:31462075
RGD:14975304
G
Bmpr2em2Sage
bone morphogenetic protein receptor type 2; ZFN induced mutant 2, Sage
IMP
induced by human ad-ALOX5
RGD
PMID:31462075
RGD:14975304
G
Brd4
bromodomain containing 4
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:26224795
NCBI chr 7:14,222,101...14,303,055
Ensembl chr 7:14,222,101...14,303,055
G
Ca9
carbonic anhydrase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20110409
NCBI chr 5:59,008,277...59,015,535
Ensembl chr 5:59,008,933...59,015,528
G
Calca
calcitonin-related polypeptide alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:1357980
NCBI chr 1:184,184,018...184,188,922
Ensembl chr 1:184,184,020...184,188,911
G
Casr
calcium-sensing receptor
IEP
protein:increased expression:pulmonary artery (rat)
RGD
PMID:22730443
RGD:7205669
NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
G
Cav1
caveolin 1
treatment
ISO IEP
idiopathic pulmonary arterial hypertension (IPAH)
RGD
PMID:17470567 , PMID:23538027 , PMID:15353500
RGD:1625360 , RGD:8662276 , RGD:1581153
NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
G
Cavin1
caveolae associated protein 1
ISS
OMIM:615371
MouseDO
NCBI chr10:88,862,513...88,874,495
Ensembl chr10:88,860,733...88,874,528
G
Cbln2
cerebellin 2 precursor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23502781
NCBI chr18:83,775,568...83,783,841
Ensembl chr18:83,777,665...83,782,930
G
Ccl1
C-C motif chemokine ligand 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22507635
NCBI chr10:69,534,976...69,537,836
Ensembl chr10:69,534,933...69,537,882
G
Ccl2
C-C motif chemokine ligand 2
IEP ISO
protein:increased expression:lung, plasma CTD Direct Evidence: marker/mechanism protein:increased expression:bronchoalveolar lavage fluid (rat)
CTD
PMID:15302794 PMID:30418988 , PMID:19087668 , PMID:9605182
RGD:2307003 , RGD:8549547
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
G
Ccl5
C-C motif chemokine ligand 5
ISO
protein:increased secretion:serum (human)
RGD
PMID:19932032
RGD:4891440
NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
G
Ccn2
cellular communication network factor 2
IEP
protein:increased expression:pulmonary artery (rat)
RGD
PMID:19234054
RGD:2314535
NCBI chr 1:21,851,657...21,854,773
Ensembl chr 1:21,851,660...21,854,773
G
Cd209
CD209 molecule
ISO
RGD
PMID:17107989
RGD:5131187
NCBI chr12:2,406,879...2,413,324
Ensembl chr12:2,406,879...2,413,324
G
Cd209c
CD209c molecule
ISO
RGD
PMID:17107989
RGD:5131187
NCBI chr12:2,837,991...2,846,709
Ensembl chr12:2,838,128...2,843,772
G
Cd28
Cd28 molecule
ISO
RGD
PMID:19075187
RGD:5131619
NCBI chr 9:67,546,408...67,573,858
Ensembl chr 9:67,546,408...67,571,871
G
Cd40
CD40 molecule
treatment
IMP
RGD
PMID:25998782
RGD:11344970
NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
G
Cd40lg
CD40 ligand
IEP ISO
protein:increased expression:serum (rat) CTD Direct Evidence: marker/mechanism
CTD
PMID:15302794 , PMID:25998782
RGD:11344970
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
G
Cd86
CD86 molecule
ISO
protein:decreased expression:blood, myeloid dendritic cell (human)
RGD
PMID:19693657
RGD:4892293
NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
G
Cdh5
cadherin 5
IEP
protein:decreased expression:lung
RGD
PMID:25593290
RGD:38500244
NCBI chr19:1,025,122...1,074,333
Ensembl chr19:1,023,683...1,074,365
G
Cdkn1a
cyclin-dependent kinase inhibitor 1A
treatment
ISO IEP
RGD
PMID:24334871 , PMID:24412385
RGD:10043360 , RGD:10043361
NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
G
Cdkn1b
cyclin-dependent kinase inhibitor 1B
treatment
IEP
RGD
PMID:22383500
RGD:10045357
NCBI chr 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964
G
Clu
clusterin
IEP
RGD
PMID:25069740
RGD:9068424
NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
G
Col1a1
collagen type I alpha 1 chain
treatment
IEP
RGD
PMID:25867313
RGD:11041577
NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
G
Col4a1
collagen type IV alpha 1 chain
treatment
IEP
RGD
PMID:25867313
RGD:11041577
NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
G
Crp
C-reactive protein
ISO
associated with Pulmonary Disease, Chronic Obstructive
RGD
PMID:22333502
RGD:6482312
NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
G
Csf3
colony stimulating factor 3
treatment
ISO
RGD
PMID:17186992 , PMID:12524378
RGD:11039432 , RGD:11039539
NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
G
Ctnnd1
catenin delta 1
treatment
IEP
RGD
PMID:25593290
RGD:38500244
NCBI chr 3:72,001,904...72,053,047
Ensembl chr 3:72,002,152...72,053,049
G
Cx3cl1
C-X3-C motif chemokine ligand 1
ISO IEP
protein:increased expression:lung associated with Heart Defects, Congenital mRNA, protein:increased expression:lung
RGD
PMID:19948918 , PMID:20869263 , PMID:18630689
RGD:4891887 , RGD:4891883 , RGD:4891889
NCBI chr19:10,644,267...10,654,861
Ensembl chr19:10,644,244...10,653,800
G
Cx3cr1
C-X3-C motif chemokine receptor 1
IEP ISO
mRNA, protein:increased expression:lung associated with Scleroderma, Systemic;DNA:polymorphisms: :p.V249I, p.T280M (human)
RGD
PMID:17182651 , PMID:16584113
RGD:4891893 , RGD:4891896
NCBI chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
G
Cxcr4
C-X-C motif chemokine receptor 4
treatment
IMP
RGD
PMID:21294880
RGD:6480473
NCBI chr13:45,314,952...45,318,856
Ensembl chr13:45,314,933...45,318,878
G
Cyba
cytochrome b-245 alpha chain
IDA ISO
associated with Anoxia;mRNA, protein:increased expression:lung
RGD
PMID:18424632 , PMID:18952568
RGD:4773907 , RGD:4762683
NCBI chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876
G
Cybb
cytochrome b-245 beta chain
treatment
ISO IEP
associated with Anoxia
RGD
PMID:18952568 , PMID:18424632
RGD:4762683 , RGD:4773907
NCBI chr X:14,578,330...14,610,049
Ensembl chr X:14,578,264...14,612,547
G
Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
IEP
mRNA,protein:increased expression:lung
RGD
PMID:28956952
RGD:13702097
NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
G
Cyp2j4
cytochrome P450, family 2, subfamily j, polypeptide 4
ISO
RGD
PMID:20118222
RGD:7243137
NCBI chr 5:119,546,458...119,564,843
Ensembl chr 5:119,546,461...119,564,846
G
Cysltr1
cysteinyl leukotriene receptor 1
IMP
associated with Anoxia
RGD
PMID:12910720
RGD:4848274
NCBI chr X:77,671,028...77,700,491
Ensembl chr X:77,674,150...77,700,269
G
Ece1
endothelin converting enzyme 1
IMP
associated with Anoxia;
RGD
PMID:18767389
RGD:7243939
NCBI chr 5:156,215,469...156,318,652
Ensembl chr 5:156,215,417...156,318,671
G
Edn1
endothelin 1
ISO IEP
associated with Pulmonary Disease, Chronic Obstructive; protein:increased secretion:plasma (human) CTD Direct Evidence: marker/mechanism mRNA:increased expression:lung (rat) Hypertension, Portopulmonary; protein:increased secretion:plasma (human) Hypertension, Heritable Pulmonary Artery; mRNA:increased expression:bone marrow, macrophage (mouse)
CTD
PMID:7549228 PMID:9918753 PMID:12391278 PMID:20929026 PMID:20967148 , PMID:20890431 , PMID:20889845 , PMID:20498147 , PMID:20562228
RGD:4144865 , RGD:4144128 , RGD:4144882 , RGD:4144877
NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
G
Edn2
endothelin 2
ISO
RGD
PMID:10598486
RGD:1580918
NCBI chr 5:139,098,472...139,106,396
Ensembl chr 5:139,100,898...139,105,792
G
Ednra
endothelin receptor type A
IMP IDA ISO
RGD
PMID:20531217 , PMID:15243299 , PMID:20562228 , PMID:18506008
RGD:4892283 , RGD:1580949 , RGD:4144877 , RGD:4892320
NCBI chr19:33,928,356...33,991,703
Ensembl chr19:33,928,356...33,991,703
G
Ednrb
endothelin receptor type B
IMP ISO IDA
CTD Direct Evidence: marker/mechanism
CTD
PMID:15927975 , PMID:18091567 , PMID:15243299 , PMID:20562228
RGD:4892289 , RGD:1580949 , RGD:4144877
NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
G
Egfr
epidermal growth factor receptor
ISO
protein:increased expression:lung, arteriole (human)
RGD
PMID:12896876 , PMID:21492463
RGD:5131639 , RGD:5131626
NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
G
Egr1
early growth response 1
ISO IEP
protein:increased expression:lung (human) mRNA, protein:increased expression:lung (rat) mRNA, protein:increased expression:lung (mouse)
RGD
PMID:20889906 , PMID:21924231 , PMID:20889906 , PMID:20023177 , PMID:18599502
RGD:5131875 , RGD:10395308 , RGD:5131875 , RGD:5131883 , RGD:5131890
NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
G
Eif2ak4
eukaryotic translation initiation factor 2 alpha kinase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24292273
NCBI chr 3:110,159,624...110,245,382
Ensembl chr 3:110,159,708...110,249,217
G
Eng
endoglin
ISO
RGD
PMID:20042709
RGD:11041178
NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
G
Epas1
endothelial PAS domain protein 1
IEP ISO
DNA:missense mutation:cds: 2097G>A,p.G537R(human)
RGD
PMID:16215633 , PMID:18650473
RGD:10395375 , RGD:11041573
NCBI chr 6:10,306,508...10,385,239
Ensembl chr 6:10,306,405...10,387,265
G
Ephx2
epoxide hydrolase 2
IMP
RGD
PMID:19226702
RGD:5688731
NCBI chr15:42,757,241...42,794,211
Ensembl chr15:42,757,235...42,794,279
G
Epo
erythropoietin
treatment
ISO
RGD
PMID:22559233
RGD:10400914
NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
G
Esr1
estrogen receptor 1
ISO
RGD
PMID:20081107
RGD:4892253
NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
G
Esr2
estrogen receptor 2
IDA
RGD
PMID:21700911
RGD:5508791
NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
G
F5
coagulation factor V
ISO
Chronic thromboembolic pulmonary hypertension (CTEPH)
RGD
PMID:20182352
RGD:4892669
NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
G
Fbln5
fibulin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12189163
NCBI chr 6:125,644,797...125,723,957
Ensembl chr 6:125,644,804...125,723,944
G
Fgf2
fibroblast growth factor 2
IMP ISO
mRNA:increased expression:lung
RGD
PMID:19197140 , PMID:19197140
RGD:2315911 , RGD:2315911
NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
G
Fgfr1
Fibroblast growth factor receptor 1
IMP
RGD
PMID:19197140
RGD:2315911
NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
G
Foxo1
forkhead box O1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27663689
NCBI chr 2:141,451,234...141,527,016
Ensembl chr 2:141,451,234...141,527,016
G
Gata4
GATA binding protein 4
IEP
protein:increased expression:heart right ventricle
RGD
PMID:21059997
RGD:7207053
NCBI chr15:46,386,703...46,458,679
Ensembl chr15:46,386,712...46,432,965
G
Gata6
GATA binding protein 6
IEP ISO
mRNA, protein:decreased expression:lung protein:decreased expression:lung, arteriole, venule (human)
RGD
PMID:19842842 , PMID:23583651 , PMID:23583651
RGD:2314194 , RGD:13208869 , RGD:13208869
NCBI chr18:2,415,821...2,447,087
Ensembl chr18:2,416,552...2,446,338
G
Gba
glucosylceramidase beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12359135
NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
G
Gdf2
growth differentiation factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26801773
NCBI chr16:10,267,510...10,293,545
Ensembl chr16:10,267,482...10,273,239
G
Gja1
gap junction protein, alpha 1
treatment
IEP
mRNA:increased expression:pulmonary artery
RGD
PMID:21414209 , PMID:23321332
RGD:7207411 , RGD:8662411
NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
G
Gpr182
G protein-coupled receptor 182
IEP
mRNA:increased expression:lung
RGD
PMID:12622928
RGD:1625768
NCBI chr 7:71,044,786...71,048,713
Ensembl chr 7:71,045,543...71,048,383
G
Has1
hyaluronan synthase 1
IEP
RGD
PMID:19915162
RGD:9588633
NCBI chr 1:59,720,612...59,732,409
Ensembl chr 1:59,720,612...59,732,409
G
Has2
hyaluronan synthase 2
IEP
mRNA:increased expression:lung
RGD
PMID:19915162
RGD:9588633
NCBI chr 7:96,438,046...96,464,049
Ensembl chr 7:96,438,046...96,464,049
G
Has3
hyaluronan synthase 3
IEP
mRNA:decreased expression:lung
RGD
PMID:19915162
RGD:9588633
NCBI chr19:39,063,298...39,077,745
Ensembl chr19:39,063,998...39,077,722
G
Hdac1
histone deacetylase 1
ISO IEP
protein:increased expression:lung:
RGD
PMID:22711276 , PMID:22711276
RGD:9590133 , RGD:9590133
NCBI chr 5:147,716,664...147,743,723
Ensembl chr 5:147,716,664...147,743,723
G
Hdac2
histone deacetylase 2
ISO
protein:decreased expression:lung:
RGD
PMID:22711276
RGD:9590133
NCBI chr20:43,084,870...43,108,198
Ensembl chr20:43,084,870...43,108,198
G
Hdac3
histone deacetylase 3
ISO
protein:decreased expression:lung:
RGD
PMID:22711276
RGD:9590133
NCBI chr18:31,073,057...31,094,347
Ensembl chr18:31,073,058...31,094,303
G
Hdac4
histone deacetylase 4
ISO
protein:increased expression:lung:
RGD
PMID:22711276
RGD:9590133
NCBI chr 9:99,052,945...99,299,715
Ensembl chr 9:99,057,089...99,299,715
G
Hdac5
histone deacetylase 5
ISO IEP
protein:increased expression:lung:
RGD
PMID:22711276 , PMID:22711276
RGD:9590133 , RGD:9590133
NCBI chr10:90,140,183...90,169,853
Ensembl chr10:90,140,183...90,151,042
G
Hif1a
hypoxia inducible factor 1 subunit alpha
IEP ISO
associated with Anoxia;protein:increased expression:pulmonary artery CTD Direct Evidence: marker/mechanism
CTD
PMID:20110409 , PMID:17213961 , PMID:16215633
RGD:1601553 , RGD:10395375
NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
G
Hif3a
hypoxia inducible factor 3 subunit alpha
IEP
RGD
PMID:16215633
RGD:10395375
NCBI chr 1:78,976,318...78,997,869
Ensembl chr 1:78,976,318...78,997,869
G
Hk1
hexokinase 1
IEP
mRNA:increased expression:lung
RGD
PMID:25767292
RGD:11353880
NCBI chr20:31,911,460...31,979,780
Ensembl chr20:31,912,262...31,956,649
G
Hmgb1
high mobility group box 1
treatment
IMP
RGD
PMID:25032709
RGD:10402082
NCBI chr12:7,082,529...7,090,246
Ensembl chr16:37,500,017...37,502,237
G
Hmgcr
3-hydroxy-3-methylglutaryl-CoA reductase
IMP
RGD
PMID:12750068
RGD:5508701
NCBI chr 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654
G
Hmox1
heme oxygenase 1
IEP ISO IDA
RGD
PMID:14970910 , PMID:20957739 , PMID:19409105
RGD:1582715 , RGD:4145325 , RGD:4145307
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
G
Hp
haptoglobin
treatment
ISO
protein:decreased expression:serum
RGD
PMID:2043024 , PMID:25656991 , PMID:19023114 , PMID:19703762
RGD:1626353 , RGD:11041794 , RGD:5147440 , RGD:5147420
NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
G
Hpgd
15-hydroxyprostaglandin dehydrogenase
ISO
mRNA, protein:increased expression:lung
RGD
PMID:24657469
RGD:11667099
NCBI chr16:37,457,134...37,495,758
Ensembl chr16:37,457,135...37,495,758
G
Htr2b
5-hydroxytryptamine receptor 2B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14659797
NCBI chr 9:93,112,781...93,130,135
Ensembl chr 9:93,112,805...93,125,014
G
Hyal1
hyaluronidase 1
IEP
mRNA:decreased expression:lung
RGD
PMID:19915162
RGD:9588633
NCBI chr 8:116,332,834...116,337,522
Ensembl chr 8:116,332,796...116,335,435
G
Hyal2
hyaluronidase 2
IEP
mRNA:decreased expression:lung
RGD
PMID:19915162
RGD:9588633
NCBI chr 8:116,324,062...116,328,978
Ensembl chr 8:116,324,040...116,328,978
G
Icam1
intercellular adhesion molecule 1
ISO
associated with Heart Defects, Congenital; protein:increased secretion:serum (human)
RGD
PMID:21034646
RGD:4145436
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
G
Id1
inhibitor of DNA binding 1, HLH protein
IDA
RGD
PMID:20522807
RGD:9686087
NCBI chr 3:148,214,623...148,216,715
Ensembl chr 3:148,215,540...148,216,718
G
Ifngr1
interferon gamma receptor 1
ISO
mRNA: increased expression
RGD
PMID:20808962
RGD:4892610
NCBI chr 1:15,062,380...15,080,815
Ensembl chr 1:15,062,432...15,080,907
G
Il10
interleukin 10
disease_progression
ISO
protein:increased expression:serum
RGD
PMID:20713898
RGD:4142530
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
G
Il13
interleukin 13
IEP ISO
associated with sclerosis; protein:increased expression:plasma associated with Scleroderma, Limited;protein:increased expression:plasma
RGD
PMID:19799786 , PMID:21425123
RGD:4145600 , RGD:8549528
NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
G
Il13ra1
interleukin 13 receptor subunit alpha 1
ISO
RGD
PMID:20671265 , PMID:20808962
RGD:4892611 , RGD:4892610
NCBI chr X:122,724,081...122,783,801
Ensembl chr X:122,724,129...122,781,479
G
Il13ra2
interleukin 13 receptor subunit alpha 2
ISO
mRNA:increased expression:lung
RGD
PMID:20522789
RGD:4892612
NCBI chr X:118,443,955...118,514,716
Ensembl chr X:118,443,823...118,513,061
G
Il18
interleukin 18
ISO
RGD
PMID:17400729
RGD:4889590
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
G
Il1b
interleukin 1 beta
ISO
protein:increased expression:serum associated with Scleroderma, Limited;protein:increased expression:serum
RGD
PMID:20713898 , PMID:20808962
RGD:4142530 , RGD:4892610
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
G
Il1rn
interleukin 1 receptor antagonist
ISO
RGD
PMID:7946395
RGD:4143197
NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
G
Il23r
interleukin 23 receptor
ISO
associated with Scleroderma, Systemic;DNA:SNPs: :rs11209026, rs11465804 (human)
RGD
PMID:19918037
RGD:5096624
NCBI chr 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173
G
Il4
interleukin 4
ISO
RGD
PMID:20889544
RGD:5128515
NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
G
Il6
interleukin 6
disease_progression
ISO IDA
RGD
PMID:20713898 , PMID:20693255
RGD:4142530 , RGD:4143246
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
G
Kcna5
potassium voltage-gated channel subfamily A member 5
ISO IDA
DNA:SNPs:promoter, cds CTD Direct Evidence: marker/mechanism
CTD
PMID:27522126 , PMID:17267549 , PMID:20303989 , PMID:17596340
RGD:1627654 , RGD:7242752 , RGD:1627651
NCBI chr 4:159,077,195...159,079,003
Ensembl chr 4:159,077,195...159,079,003
G
Kcnk3
potassium two pore domain channel subfamily K member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30365877
NCBI chr 6:27,154,274...27,190,209
Ensembl chr 6:27,151,612...27,190,132
G
Kcnma1
potassium calcium-activated channel subfamily M alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28090300
NCBI chr15:344,204...1,048,849
Ensembl chr15:344,360...1,047,956
G
Lepr
leptin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30689673
NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
G
Lox
lysyl oxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24614111
NCBI chr18:47,500,320...47,577,819
Ensembl chr18:47,500,330...47,577,819
G
Mapk1
mitogen activated protein kinase 1
treatment
ISO
RGD
PMID:25907942
RGD:13800893
NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
G
Mapk3
mitogen activated protein kinase 3
treatment
ISO
RGD
PMID:25907942
RGD:13800893
NCBI chr 1:198,192,773...198,198,975
Ensembl chr 1:198,192,773...198,198,975
G
Mfn1
mitofusin 1
IEP
protein:decreased expression:heart right ventricle (rat)
RGD
PMID:27422986
RGD:12910832
NCBI chr 2:118,929,738...118,971,689
Ensembl chr 2:118,929,738...118,973,698
G
Mif
macrophage migration inhibitory factor
ISO
associated with sclerodema, systemic; protein:increased expression:serum
RGD
PMID:18618071
RGD:4891006
NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
G
Mir125a
microRNA 125a
treatment
IDA
RGD
PMID:29700287
RGD:26884455
NCBI chr 1:59,704,827...59,704,911
Ensembl chr 1:59,704,827...59,704,911
G
Mir204
microRNA 204
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26224795
NCBI chr 1:240,403,000...240,403,109
Ensembl chr 1:240,403,000...240,403,109
G
Mir223
microRNA 223
treatment
IEP IDA ISO
Chronic Intermittent Hypoxia RNA:decreased expression:lung, pulmonary aorta, pulmonary aorta smooth muscle
RGD
PMID:30246291 , PMID:30507047 , PMID:26084306 , PMID:26084306
RGD:25823198 , RGD:25824849 , RGD:25824847 , RGD:25824847
NCBI chr X:65,367,812...65,367,921
Ensembl chr X:65,367,812...65,367,921
G
Mmp1
matrix metallopeptidase 1
IDA
RGD
PMID:23087098
RGD:7207217
NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
G
Mmp9
matrix metallopeptidase 9
severity
ISO IDA IEP
associated with Pulmonary Embolism;protein:increased expression:lung, plasma associated with Heart Failure, Congestive;protein:decreased expression:monocyte
RGD
PMID:21063214 , PMID:23087098 , PMID:18355767 , PMID:17133179 , PMID:16867026
RGD:5129210 , RGD:7207217 , RGD:5130155 , RGD:1642053 , RGD:1642028
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
G
Mtor
mechanistic target of rapamycin kinase
IMP
RGD
PMID:23470622
RGD:10041039
NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
G
Myc
MYC proto-oncogene, bHLH transcription factor
treatment
IDA
RGD
PMID:22306243
RGD:7240564
NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
G
Nampt
nicotinamide phosphoribosyltransferase
susceptibility
ISO IEP
mRNA,protein:increased expression:lung,pulmonary arterial endothelial cell: protein:increased expression:lung:
RGD
PMID:28202489 , PMID:28202489 , PMID:28202489
RGD:13781882 , RGD:13781882 , RGD:13781882
NCBI chr 6:52,122,085...52,156,473
Ensembl chr 6:52,122,085...52,156,472
G
Nfatc2
nuclear factor of activated T-cells 2
IMP ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27522126 , PMID:17596340
RGD:1627651
NCBI chr 3:165,241,750...165,374,644
Ensembl chr 3:165,245,238...165,360,292
G
Nos2
nitric oxide synthase 2
onset
ISO IEP
associated with Anoxia; mouse gene in rat model associated with Anoxia; protein:increased expression:pulmonary artery associated with Congenital diaphragmatic hernia; protein:decreased expression:pulmonary artery, endothelium associated with heart disease; protein:increased expression:endothelial cell associated with Scleroderma, Systemic; DNA:repeats, SNPs:promoter:(CCTTT), c.-1026C>T, c.-277A>G (human)
RGD
PMID:11104748 , PMID:16113050 , PMID:16456243 , PMID:19912632 , PMID:16813666
RGD:4891468 , RGD:1580936 , RGD:1580940 , RGD:5132602 , RGD:4891462
NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
G
Nos3
nitric oxide synthase 3
treatment susceptibility
ISO IDA IEP IMP
DNA:polymorphism:cds:p.E298D (human) CTD Direct Evidence: marker/mechanism associated with Beta-Thalassemia;DNA:repeats:intron: RNA:increased expression:lung mRNA, protein:increased expression:pulmonary endothelial cell associated with heart disease; protein:increased expression:endothelial cell protein:increased expression:arteriole associated with chronic obstructive pulmonary disease; DNA:polymorphism:cds:p.G894T (human)
CTD
PMID:21144100 , PMID:21144100 , PMID:29151278 , PMID:25699607 , PMID:11686901 , PMID:20724942 , PMID:19912632 , PMID:21111729 , PMID:19487814 , PMID:20215577 , PMID:17065228 , PMID:18953956
RGD:4892009 , RGD:13504742 , RGD:11533642 , RGD:5132631 , RGD:4892004 , RGD:5132602 , RGD:4892010 , RGD:4892039 , RGD:4892038 , RGD:4892043 , RGD:4892042
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
G
Nox4
NADPH oxidase 4
ISO
associated with Anoxia;mRNA, protein:increased expression:lung
RGD
PMID:18952568
RGD:4762683
NCBI chr 1:150,796,359...150,976,186
Ensembl chr 1:150,797,084...150,976,194
G
Nppa
natriuretic peptide A
IDA
RGD
PMID:2136863
RGD:7247720
NCBI chr 5:164,808,407...164,809,716
Ensembl chr 5:164,808,323...164,809,705
G
Nppb
natriuretic peptide B
severity
IEP ISO
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism
CTD
PMID:20408845 PMID:21351102 , PMID:16936438 , PMID:16893710
RGD:1642203 , RGD:1642205
NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
G
Pde3a
phosphodiesterase 3A
IEP
mRNA:increased expression:pulmonary artery
RGD
PMID:12466227
RGD:1582528
NCBI chr 4:175,431,904...175,703,844
Ensembl chr 4:175,431,904...175,700,238
G
Pde5a
phosphodiesterase 5A
IMP
RGD
PMID:19881228
RGD:2314460
NCBI chr 2:226,899,604...227,044,916
Ensembl chr 2:226,900,619...227,041,576
G
Pdgfa
platelet derived growth factor subunit A
IEP
RGD
PMID:8447423
RGD:1580847
NCBI chr12:17,734,141...17,756,186
Ensembl chr12:17,734,133...17,755,285
G
Pdgfb
platelet derived growth factor subunit B
IEP ISO
RGD
PMID:8447423 , PMID:21819559 , PMID:22523431
RGD:1580847 , RGD:6482859 , RGD:6482831
NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
G
Pdia3
protein disulfide isomerase family A, member 3
IEP
protein:increased expression:lung:
RGD
PMID:23315792
RGD:9999167
NCBI chr 3:113,376,983...113,400,707
Ensembl chr 3:113,376,983...113,400,707
G
Pecam1
platelet and endothelial cell adhesion molecule 1
treatment
IDA
RGD
PMID:22559233
RGD:10400914
NCBI chr10:94,850,971...94,913,202
G
Pgf
placental growth factor
ISO
associated with Anemia, Sickle Cell;protein:increased expression:plasma associated with Heart Defects, Congenital
RGD
PMID:20040765 , PMID:20195855
RGD:6483588 , RGD:6483610
NCBI chr 6:108,994,016...109,004,598
Ensembl chr 6:108,994,018...109,004,598
G
Prkg1
protein kinase cGMP-dependent 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21351102
NCBI chr 1:248,982,039...250,300,952
G
Ptgis
prostaglandin I2 synthase
susceptibility
IDA IMP
rat gene in a mouse model
RGD
PMID:15684702 , PMID:10359560
RGD:1580695 , RGD:727270
NCBI chr 3:163,950,746...163,986,129
G
Ptgs2
prostaglandin-endoperoxide synthase 2
IMP ISO
anoxia associated;
RGD
PMID:18542928 , PMID:19577709
RGD:2300276 , RGD:5135495
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
G
Ptk2
protein tyrosine kinase 2
ISO
RGD
PMID:16244766
RGD:1581290
NCBI chr 7:114,436,419...114,611,317
Ensembl chr 7:114,437,361...114,590,119
G
Ramp2
receptor activity modifying protein 2
IEP
mRNA:increased expression:heart right ventricle
RGD
PMID:17437045
RGD:1642678
NCBI chr10:89,166,170...89,168,962
Ensembl chr10:89,166,890...89,168,965
G
Rela
RELA proto-oncogene, NF-kB subunit
IEP
protein:altered localization:nucleus, blood vessel endothelial cell, lung
RGD
PMID:17934115
RGD:2298843
NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
G
Rhoa
ras homolog family member A
IEP
protein:altered localization:membrane, artery, lung protein:altered localization:pulmonary artery
RGD
PMID:18091588 , PMID:16322374
RGD:2298877 , RGD:1642819
NCBI chr 8:117,082,440...117,116,244
Ensembl chr 8:117,106,576...117,116,167
G
Serpina1
serpin family A member 1
IDA ISO
protein:decreased expression:serum
RGD
PMID:1836309 , PMID:17444595
RGD:1643154 , RGD:1643144
NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
G
Serpine1
serpin family E member 1
treatment
ISO IDA
mRNA, protein:decreased expression:lung DNA:polymorphism:3'utr
RGD
PMID:18337154 , PMID:27115515 , PMID:20300292
RGD:4143529 , RGD:11073610 , RGD:4143527
NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
G
Slc2a4
solute carrier family 2 member 4
IEP
RGD
PMID:19043358
RGD:2313622
NCBI chr10:56,552,921...56,558,562
Ensembl chr10:56,552,983...56,558,487
G
Slc31a1
solute carrier family 31 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24614111
NCBI chr 5:78,222,504...78,249,358
Ensembl chr 5:78,222,504...78,249,358
G
Slc6a4
solute carrier family 6 member 4
onset no_association severity
ISO IDA IMP
DNA:repeat:promoter (human) CTD Direct Evidence: marker/mechanism associated with Heart Septal Defects, Ventricular;DNA:polymorphisms (human) associated with Anoxia DNA:polymorphism, repeat:promoter, intron (human) associated with Pulmonary Disease, Chronic Obstructive;DNA:polymorphism (human)
CTD
PMID:18506000 , PMID:16339917 , PMID:19886858 , PMID:11259539 , PMID:19736308 , PMID:16399993 , PMID:19556740 , PMID:19736308 , PMID:19473340 , PMID:18074800
RGD:4889442 , RGD:4889430 , RGD:4889445 , RGD:4889432 , RGD:4889440 , RGD:4889434 , RGD:4889432 , RGD:4889435 , RGD:4889437
NCBI chr10:63,153,656...63,188,377
Ensembl chr10:63,153,651...63,176,463
G
Slc8a1
solute carrier family 8 member A1
ISO
protein:increased expression:pulmonary artery, smooth muscle cell
RGD
PMID:17192285
RGD:1642711
NCBI chr 6:4,244,076...4,564,262
Ensembl chr 6:4,258,991...4,520,604
G
Smad1
SMAD family member 1
IEP IDA
protein:decreased phosphorylation:lung, vascular associated smooth muscle cell protein:decreased expression, increased phosphorylation:lung
RGD
PMID:17347486 , PMID:18367643
RGD:1643222 , RGD:12903274
NCBI chr19:32,182,942...32,248,694
Ensembl chr19:32,188,267...32,248,684
G
Smad4
SMAD family member 4
IEP
RGD
PMID:17347486 , PMID:18367643
RGD:1643222 , RGD:12903274
NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
G
Smad6
SMAD family member 6
IEP
mRNA:decreased expression:lung
RGD
PMID:17347486
RGD:1643222
NCBI chr 8:68,897,746...68,967,221
Ensembl chr 8:68,898,296...68,966,108
G
Smad7
SMAD family member 7
IEP
RGD
PMID:17347486
RGD:1643222
NCBI chr18:71,395,830...71,424,164
Ensembl chr18:71,395,830...71,424,157
G
Smad9
SMAD family member 9
IEP
RGD
PMID:17347486
RGD:1643222
NCBI chr 2:143,951,725...144,002,025
Ensembl chr 2:144,191,846...144,212,138 Ensembl chr 2:144,191,846...144,212,138
G
Smpd3
sphingomyelin phosphodiesterase 3
treatment
IMP
RGD
PMID:19088082
RGD:10042965
NCBI chr19:38,237,963...38,321,572
Ensembl chr19:38,237,965...38,321,528
G
Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20110409
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
G
Tac1
tachykinin, precursor 1
IMP
RGD
PMID:12662901
RGD:5147638
NCBI chr 4:33,638,853...33,646,819
Ensembl chr 4:33,638,709...33,646,819
G
Tacr1
tachykinin receptor 1
IMP
RGD
PMID:12662901
RGD:5147638
NCBI chr 4:113,247,236...113,416,139
Ensembl chr 4:113,247,795...113,414,504
G
Tacr2
tachykinin receptor 2
IMP
RGD
PMID:12662901
RGD:5147638
NCBI chr20:31,892,515...31,905,153
Ensembl chr20:31,892,515...31,905,153
G
Tek
TEK receptor tyrosine kinase
ISO
mRNA, protein:increased expression:lung
RGD
PMID:16917117
RGD:1601487
NCBI chr 5:113,725,717...113,852,799
Ensembl chr 5:113,725,717...113,852,799
G
Tert
telomerase reverse transcriptase
treatment
IEP ISO
RGD
PMID:24376652 , PMID:24376652
RGD:11038675 , RGD:11038675
NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
G
Tgfa
transforming growth factor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18424623
NCBI chr 4:117,961,877...118,045,923
Ensembl chr 4:117,962,319...118,046,344
G
Tgfb1
transforming growth factor, beta 1
onset
ISO
DNA:SNPs: :multiple (human) protein:increased expression:blood
RGD
PMID:18496036 , PMID:19324949
RGD:4145273 , RGD:4145138
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
G
Tgfbr1
transforming growth factor, beta receptor 1
IMP
RGD
PMID:18202349
RGD:2302019
NCBI chr 5:63,056,071...63,119,635
Ensembl chr 5:63,050,758...63,119,635
G
Tgfbr2
transforming growth factor, beta receptor 2
IEP
mRNA:decreased expression:lung
RGD
PMID:17392319
RGD:1601116
NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
G
Thbd
thrombomodulin
ISO
associated with Mixed Connective Tissue Disease
RGD
PMID:16784493
RGD:1601639
NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
G
Thpo
thrombopoietin
ISO
protein:increased expression:pulmonary artery, plasma
RGD
PMID:12487786
RGD:1580087
NCBI chr11:82,845,676...82,853,439
Ensembl chr11:83,868,655...83,873,910 Ensembl chr11:83,868,655...83,873,910
G
Tlr4
toll-like receptor 4
ISO
associated anoxia
RGD
PMID:20205596
RGD:4144108
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
G
Tnc
tenascin C
severity
ISO IEP IDA
protein:increased expression:plasma
RGD
PMID:20528622 , PMID:19288153 , PMID:15879421 , PMID:16782755
RGD:4889562 , RGD:4889564 , RGD:4889570 , RGD:4889567
NCBI chr 5:79,789,686...79,874,555
Ensembl chr 5:79,789,671...79,874,671
G
Tnf
tumor necrosis factor
ISO
associated with pulmonary disease, chronic obstructive; protein:increased expression:serum CTD Direct Evidence: therapeutic associated with Pulmonary Edema; protein:increased expression:Bronchoalveolar Lavage Fluid
CTD
PMID:2518282 , PMID:16899829 , PMID:9628235 , PMID:12391106
RGD:4143280 , RGD:4142833 , RGD:4143422
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
G
Tp53
tumor protein p53
treatment
ISO
RGD
PMID:24334871
RGD:10043360
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
G
Tp53bp1
tumor protein p53 binding protein 1
ISO
protein:increased expression:lung
RGD
PMID:24270264
RGD:9586752
NCBI chr 3:113,160,030...113,259,701
Ensembl chr 3:113,160,000...113,231,790
G
Tph1
tryptophan hydroxylase 1
severity
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18506000 , PMID:17675372
RGD:5686352
NCBI chr 1:102,669,868...102,699,442
Ensembl chr 1:102,669,868...102,699,442
G
Tph2
tryptophan hydroxylase 2
severity
ISO
DNA:SNP: :1473C>G (mouse)
RGD
PMID:17675372
RGD:5686352
NCBI chr 7:58,042,279...58,149,220
Ensembl chr 7:58,042,281...58,149,061
G
Trpc3
transient receptor potential cation channel, subfamily C, member 3
ISO
RGD
PMID:15358862
RGD:1580490
NCBI chr 2:123,329,954...123,467,574
Ensembl chr 2:123,329,875...123,407,496
G
Trpc6
transient receptor potential cation channel, subfamily C, member 6
ISO
RGD
PMID:15358862
RGD:1580490
NCBI chr 8:6,811,543...6,917,534
Ensembl chr 8:6,811,543...6,917,535
G
Twist1
twist family bHLH transcription factor 1
treatment
IEP
RGD
PMID:25593290
RGD:38500244
NCBI chr 6:53,401,241...53,403,235
Ensembl chr 6:53,401,109...53,403,214
G
Uts2
urotensin 2
IEP
RGD
PMID:15042392
RGD:2306848
NCBI chr 5:168,078,748...168,084,133
Ensembl chr 5:168,078,748...168,084,145
G
Vcam1
vascular cell adhesion molecule 1
IEP
protein:increased expression:blood vessel endothelium
RGD
PMID:17934115
RGD:2298843
NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
G
Vegfb
vascular endothelial growth factor B
ISO
RGD
PMID:12547729
RGD:1625708
NCBI chr 1:222,237,000...222,242,786
Ensembl chr 1:222,239,022...222,242,644
G
Vim
vimentin
IEP
protein:increased expression, increased phosphorylation:lung
RGD
PMID:25593290
RGD:38500244
NCBI chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212
G
Vip
vasoactive intestinal peptide
IDA
RGD
PMID:22140628
RGD:5685374
NCBI chr 1:42,169,307...42,177,582
Ensembl chr 1:42,169,501...42,177,582
G
Vwf
von Willebrand factor
ISO
RGD
PMID:14507115
RGD:1580645
NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
G
G6pc3
glucose 6 phosphatase catalytic subunit 3
ISO
ClinVar Annotator: match by term: Dursun syndrome
ClinVar
PMID:19011569 PMID:20799326 PMID:25741868
NCBI chr10:90,134,193...90,138,425
Ensembl chr10:90,134,193...90,138,425
G
Sars2
seryl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME ClinVar Annotator: match by OMIM:613845
OMIM ClinVar
PMID:21255763 PMID:24034276 PMID:28492532
NCBI chr 1:86,923,769...86,935,506
Ensembl chr 1:86,923,591...86,935,904
G
Cps1
carbamoyl-phosphate synthase 1
susceptibility
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, neonatal, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:11407344 PMID:14718356 PMID:15465784 PMID:16708072 PMID:17310273 PMID:20154341 PMID:21120950 PMID:21767969 PMID:25741868 PMID:28492532
NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274
G
Adad2
adenosine deaminase domain containing 2
ISO
ClinVar Annotator: match by term: Persistent fetal circulation syndrome
ClinVar
NCBI chr19:52,258,908...52,263,031
Ensembl chr19:52,258,947...52,262,959
G
Atp2c2
ATPase secretory pathway Ca2+ transporting 2
ISO
ClinVar Annotator: match by term: Persistent fetal circulation syndrome
ClinVar
NCBI chr19:52,347,480...52,404,608
Ensembl chr19:52,347,580...52,404,607
G
Cibar2
CBY1 interacting BAR domain containing 2
ISO
ClinVar Annotator: match by term: Persistent fetal circulation syndrome
ClinVar
NCBI chr19:53,740,763...53,754,738
Ensembl chr19:53,743,383...53,754,602
G
Cotl1
coactosin-like F-actin binding protein 1
ISO
ClinVar Annotator: match by term: Persistent fetal circulation syndrome
ClinVar
NCBI chr19:52,465,074...52,499,433
Ensembl chr19:52,465,087...52,499,433
G
Cox4i1
cytochrome c oxidase subunit 4i1
ISO
ClinVar Annotator: match by term: Persistent fetal circulation syndrome
ClinVar
NCBI chr19:54,245,958...54,252,198
Ensembl chr19:54,245,950...54,252,225
G
Cps1
carbamoyl-phosphate synthase 1
ISO
CACD, OMIM:265380, DNA:polymorphism:T1405N CTD Direct Evidence: marker/mechanism
CTD
PMID:11407344 , PMID:11407344
RGD:1600716
NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274
G
Crispld2
cysteine-rich secretory protein LCCL domain containing 2
ISO
ClinVar Annotator: match by term: Persistent fetal circulation syndrome
ClinVar
NCBI chr19:52,647,038...52,705,118
Ensembl chr19:52,647,070...52,705,131
G
Dnaaf1
dynein, axonemal, assembly factor 1
ISO
ClinVar Annotator: match by term: Persistent fetal circulation syndrome
ClinVar
NCBI chr19:52,217,427...52,245,930
Ensembl chr19:52,217,984...52,245,929
G
Emc8
ER membrane protein complex subunit 8
ISO
ClinVar Annotator: match by term: Persistent fetal circulation syndrome
ClinVar
NCBI chr19:54,235,949...54,245,810
Ensembl chr19:54,235,936...54,245,855
G
Fendrr
FOXF1 adjacent non-coding developmental regulatory RNA
ISO
ClinVar Annotator: match by term: Persistent fetal circulation syndrome
ClinVar
PMID:25741868
NCBI chr19:52,991,283...53,010,509
G
Foxf1
forkhead box F1
ISO
ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar Annotator: match by OMIM:265380
OMIM ClinVar
PMID:15520767 PMID:19500772 PMID:23505205 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30380203
NCBI chr19:53,012,306...53,016,100
Ensembl chr19:53,012,332...53,016,086
G
Gins2
GINS complex subunit 2
ISO
ClinVar Annotator: match by term: Persistent fetal circulation syndrome
ClinVar
NCBI chr19:54,151,048...54,163,701
Ensembl chr19:54,151,048...54,163,608
G
Gse1
Gse1 coiled-coil protein
ISO
ClinVar Annotator: match by term: Persistent fetal circulation syndrome
ClinVar
NCBI chr19:53,799,945...54,153,732
Ensembl chr19:54,060,622...54,148,970
G
Hsdl1
hydroxysteroid dehydrogenase like 1
ISO
ClinVar Annotator: match by term: Persistent fetal circulation syndrome
ClinVar
NCBI chr19:52,209,403...52,225,486
Ensembl chr19:52,210,859...52,217,728
G
Irf8
interferon regulatory factor 8
ISO
ClinVar Annotator: match by term: Persistent fetal circulation syndrome
ClinVar
NCBI chr19:54,314,859...54,336,643
Ensembl chr19:54,314,865...54,336,640
G
Kcng4
potassium voltage-gated channel modifier subfamily G member 4
ISO
ClinVar Annotator: match by term: Persistent fetal circulation syndrome
ClinVar
NCBI chr19:52,270,907...52,283,317
Ensembl chr19:52,270,927...52,282,877
G
Klhl36
kelch-like family member 36
ISO
ClinVar Annotator: match by term: Persistent fetal circulation syndrome
ClinVar
NCBI chr19:52,515,022...52,536,055
Ensembl chr19:52,515,022...52,536,476
G
Mbtps1
membrane-bound transcription factor peptidase, site 1
ISO
ClinVar Annotator: match by term: Persistent fetal circulation syndrome
ClinVar
NCBI chr19:52,146,507...52,206,310
Ensembl chr19:52,146,808...52,206,310
G
Meak7
MTOR associated protein, eak-7 homolog
ISO
ClinVar Annotator: match by term: Persistent fetal circulation syndrome
ClinVar
NCBI chr19:52,408,700...52,430,198
Ensembl chr19:52,408,917...52,424,318
G
Mlycd
malonyl-CoA decarboxylase
ISO
ClinVar Annotator: match by term: Persistent fetal circulation syndrome
ClinVar
NCBI chr19:52,032,950...52,048,773
Ensembl chr19:52,032,886...52,048,753
G
Necab2
N-terminal EF-hand calcium binding protein 2
ISO
ClinVar Annotator: match by term: Persistent fetal circulation syndrome
ClinVar
NCBI chr19:52,086,325...52,112,633
Ensembl chr19:52,086,325...52,112,629
G
Nos3
nitric oxide synthase 3
ISS
OMIM:265380
MouseDO
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
G
Osgin1
oxidative stress induced growth inhibitor 1
ISO
ClinVar Annotator: match by term: Persistent fetal circulation syndrome
ClinVar
NCBI chr19:52,056,808...52,085,491
Ensembl chr19:52,077,109...52,085,496
G
Pten
phosphatase and tensin homolog
ISS
OMIM:265380
MouseDO
NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
G
RGD1304884
similar to RIKEN cDNA 6430548M08
ISO
ClinVar Annotator: match by term: Persistent fetal circulation syndrome
ClinVar
NCBI chr19:52,763,352...53,742,184
Ensembl chr19:53,723,822...53,740,329
G
RGD1309651
similar to 1190005I06Rik protein
ISO
ClinVar Annotator: match by term: Persistent fetal circulation syndrome
ClinVar
NCBI chr19:54,184,554...54,210,872
Ensembl chr19:54,184,946...54,210,515
G
Slc38a8
solute carrier family 38, member 8
ISO
ClinVar Annotator: match by term: Persistent fetal circulation syndrome
ClinVar
NCBI chr19:52,110,517...52,142,500
Ensembl chr19:52,119,992...52,139,633
G
Stra6
signaling receptor and transporter of retinol STRA6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17273977
NCBI chr 8:62,925,364...62,944,438
Ensembl chr 8:62,925,357...62,944,437
G
Taf1c
TATA-box binding protein associated factor, RNA polymerase 1 subunit C
ISO
ClinVar Annotator: match by term: Persistent fetal circulation syndrome
ClinVar
NCBI chr19:52,246,061...52,252,642
Ensembl chr19:52,246,068...52,252,587
G
Usp10
ubiquitin specific peptidase 10
ISO
ClinVar Annotator: match by term: Persistent fetal circulation syndrome
ClinVar
NCBI chr19:52,566,274...52,608,820
Ensembl chr19:52,566,607...52,608,817
G
Wfdc1
WAP four-disulfide core domain 1
ISO
ClinVar Annotator: match by term: Persistent fetal circulation syndrome
ClinVar
NCBI chr19:52,313,771...52,332,721
Ensembl chr19:52,313,795...52,332,697
G
Zdhhc7
zinc finger DHHC-type palmitoyltransferase 7
ISO
ClinVar Annotator: match by term: Persistent fetal circulation syndrome
ClinVar
NCBI chr19:52,733,161...52,750,307
Ensembl chr19:52,733,161...52,750,307
G
Adora2a
adenosine A2a receptor
ISS
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
MouseDO
NCBI chr20:14,265,251...14,282,873
Ensembl chr20:14,265,252...14,282,873
G
Bmpr2
bone morphogenetic protein receptor type 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Pulmonary hypertension, primary, dexfenfluramine-associated ClinVar Annotator: match by term: Pulmonary hypertension, primary, fenfluramine-associated ClinVar Annotator: match by term: Idiopathic and/or familial pulmonary arterial hypertension
CTD ClinVar
PMID:11015450 PMID:11115378 PMID:12358323 PMID:16429395 PMID:16429403 PMID:16717148 PMID:16728714 PMID:19324947 PMID:19555857 PMID:20096498 PMID:20534176 PMID:21801371 PMID:24033266 PMID:25460361 PMID:25741868 PMID:26387786 PMID:26820968 PMID:28492532 PMID:32581362
NCBI chr 9:66,568,074...66,683,019
Ensembl chr 9:66,568,074...66,676,494
G
Cav1
caveolin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
G
Foxf1
forkhead box F1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:19500772 PMID:19592680 PMID:19812545 PMID:20425831 PMID:22766610 PMID:23034409 PMID:23074687 PMID:23335808 PMID:23505205 PMID:23943206 PMID:24033266 PMID:24842713 PMID:26462560
NCBI chr19:53,012,306...53,016,100
Ensembl chr19:53,012,332...53,016,086
G
Hdac1
histone deacetylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22711276
NCBI chr 5:147,716,664...147,743,723
Ensembl chr 5:147,716,664...147,743,723
G
Hdac4
histone deacetylase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22711276
NCBI chr 9:99,052,945...99,299,715
Ensembl chr 9:99,057,089...99,299,715
G
Hdac5
histone deacetylase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22711276
NCBI chr10:90,140,183...90,169,853
Ensembl chr10:90,140,183...90,151,042
G
Id1
inhibitor of DNA binding 1, HLH protein
ISO
protein:decreased expression:lung, wall of arteriole (human)
RGD
PMID:20522807
RGD:9686087
NCBI chr 3:148,214,623...148,216,715
Ensembl chr 3:148,215,540...148,216,718
G
Kcnk3
potassium two pore domain channel subfamily K member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 6:27,154,274...27,190,209
Ensembl chr 6:27,151,612...27,190,132
G
Pparg
peroxisome proliferator-activated receptor gamma
ISS
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
MouseDO
NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
G
Smad9
SMAD family member 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 2:143,951,725...144,002,025
Ensembl chr 2:144,191,846...144,212,138 Ensembl chr 2:144,191,846...144,212,138
G
Tnfsf4
TNF superfamily member 4
ISS
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
MouseDO
NCBI chr13:79,269,973...79,293,775
Ensembl chr13:79,269,973...79,293,778
G
Vip
vasoactive intestinal peptide
ISS
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
MouseDO
NCBI chr 1:42,169,307...42,177,582
Ensembl chr 1:42,169,501...42,177,582
G
Acvrl1
activin A receptor like type 1
ISO
ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1
ClinVar
PMID:9245985 PMID:12700602 PMID:14684682 PMID:15024723 PMID:15879500 PMID:15880681 PMID:16429404 PMID:16470787 PMID:16540754 PMID:16705692 PMID:18159113 PMID:19555857 PMID:20414677 PMID:20501893 PMID:21158752 PMID:22632830 PMID:23298310 PMID:23722869 PMID:24753439 PMID:25741868 PMID:26387786 PMID:27316748 PMID:28492532 PMID:29449337 PMID:32581362
NCBI chr 7:142,769,942...142,787,336
Ensembl chr 7:142,776,252...142,787,335
G
Bmpr2
bone morphogenetic protein receptor type 2
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1
ClinVar OMIM
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:25429696 PMID:25612240 PMID:25688877 PMID:25741868 PMID:25917481 PMID:26387786 PMID:27453251 PMID:27630060 PMID:27884767 PMID:28388887 PMID:28492532 PMID:28507310 PMID:29631995 PMID:29650961 PMID:29743074 PMID:29843651 PMID:30029678 PMID:30578397 PMID:32581362
NCBI chr 9:66,568,074...66,683,019
Ensembl chr 9:66,568,074...66,676,494
G
Eng
endoglin
ISO
ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1
ClinVar
PMID:18498373 PMID:23298310 PMID:24033266 PMID:25741868 PMID:26167679 PMID:26387786 PMID:28492532 PMID:30029678
NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
G
Kcna5
potassium voltage-gated channel subfamily A member 5
ISO
ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1
ClinVar
PMID:20018952 PMID:21685056 PMID:23861362 PMID:24068186 PMID:25076992 PMID:28492532
NCBI chr 4:159,077,195...159,079,003
Ensembl chr 4:159,077,195...159,079,003
G
Kcnk3
potassium two pore domain channel subfamily K member 3
ISO
ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1
ClinVar
PMID:23883380
NCBI chr 6:27,154,274...27,190,209
Ensembl chr 6:27,151,612...27,190,132
G
Nop58
NOP58 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1
ClinVar
PMID:23579436 PMID:26387786
NCBI chr 9:66,495,881...66,520,521
Ensembl chr 9:66,495,832...66,519,788
G
Smad1
SMAD family member 1
ISO
ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1
ClinVar
PMID:21898662 PMID:26387786
NCBI chr19:32,182,942...32,248,694
Ensembl chr19:32,188,267...32,248,684
G
Smad4
SMAD family member 4
ISO
ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1
ClinVar
PMID:21898662 PMID:24728327 PMID:25502805 PMID:25741868 PMID:26387786 PMID:28492532
NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
G
Smad9
SMAD family member 9
ISO
ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1
ClinVar
NCBI chr 2:143,951,725...144,002,025
Ensembl chr 2:144,191,846...144,212,138 Ensembl chr 2:144,191,846...144,212,138
G
Tbx4
T-box transcription factor 4
ISO
ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1
ClinVar
PMID:25741868 PMID:31151956
NCBI chr10:73,331,864...73,362,784
Ensembl chr10:73,333,119...73,362,783
G
Smad9
SMAD family member 9
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension 2
OMIM ClinVar
PMID:19211612 PMID:21898662 PMID:21920918 PMID:24033266 PMID:28492532
NCBI chr 2:143,951,725...144,002,025
Ensembl chr 2:144,191,846...144,212,138 Ensembl chr 2:144,191,846...144,212,138
G
Bmpr1b
bone morphogenetic protein receptor type 1B
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension 3
ClinVar
PMID:25741868
NCBI chr 2:247,392,195...247,662,026
Ensembl chr 2:247,403,920...247,446,882
G
Cav1
caveolin 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension 3 ClinVar Annotator: match by OMIM:615343
OMIM ClinVar
PMID:22474227 PMID:25741868 PMID:26387786 PMID:28492532 PMID:29231014
NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
G
Kcnk3
potassium two pore domain channel subfamily K member 3
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension 4 ClinVar Annotator: match by OMIM:615344
OMIM ClinVar
PMID:23883380 PMID:25741868 PMID:26387786 PMID:28492532
NCBI chr 6:27,154,274...27,190,209
Ensembl chr 6:27,151,612...27,190,132
G
Abca3
ATP binding cassette subfamily A member 3
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:15976379 PMID:17597647 PMID:18246475 PMID:18317237 PMID:18603241 PMID:18676873 PMID:22145626 PMID:22304854 PMID:22434821 PMID:22435821 PMID:22800827 PMID:22866751 PMID:23166334 PMID:24033266 PMID:24136335 PMID:24871971 PMID:25073622 PMID:25553246 PMID:25741868 PMID:27374344 PMID:29505158
NCBI chr10:13,723,365...13,780,558
Ensembl chr10:13,723,405...13,779,963
G
Abi2
abl-interactor 2
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:67,234,612...67,284,504
Ensembl chr 9:67,234,303...67,282,600
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:32581362
NCBI chr 7:142,769,942...142,787,336
Ensembl chr 7:142,776,252...142,787,335
G
Als2
alsin Rho guanine nucleotide exchange factor ALS2
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:65,961,361...66,034,396
Ensembl chr 9:65,961,346...66,033,871
G
Aox1
aldehyde oxidase 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:64,929,682...65,007,872
Ensembl chr 9:64,929,721...65,007,870
G
Bmpr1a
bone morphogenetic protein receptor type 1A
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease
ClinVar
PMID:25741868 PMID:28492532 PMID:30029678
NCBI chr16:10,758,278...10,852,170
Ensembl chr16:10,758,527...10,802,512
G
Bmpr1b
bone morphogenetic protein receptor type 1B
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease
ClinVar
PMID:25741868 PMID:30029678
NCBI chr 2:247,392,195...247,662,026
Ensembl chr 2:247,403,920...247,446,882
G
Bmpr2
bone morphogenetic protein receptor type 2
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:3291115 PMID:10903931 PMID:10973254 PMID:11015450 PMID:11115378 PMID:11502704 PMID:12358323 PMID:12821254 PMID:14985116 PMID:15059534 PMID:15146475 PMID:15358693 PMID:15591269 PMID:15965979 PMID:16429395 PMID:16717148 PMID:18159113 PMID:18356561 PMID:18503968 PMID:19555857 PMID:20002458 PMID:20096498 PMID:20534176 PMID:21737554 PMID:21801371 PMID:23298310 PMID:23579436 PMID:23592887 PMID:23675998 PMID:24591673 PMID:25429696 PMID:25612240 PMID:25741868 PMID:26387786 PMID:28415675 PMID:28492532 PMID:29843651 PMID:30029678 PMID:30578397 PMID:32581362
NCBI chr 9:66,568,074...66,683,019
Ensembl chr 9:66,568,074...66,676,494
G
Bzw1
basic leucine zipper and W2 domains 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:65,279,675...65,293,471
Ensembl chr 9:65,279,675...65,291,651
G
C2cd6
C2 calcium dependent domain containing 6
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:65,817,039...65,879,564
Ensembl chr 9:65,833,460...65,879,521
G
Carf
calcium responsive transcription factor
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:66,878,526...66,928,658
Ensembl chr 9:66,888,393...66,926,377
G
Casp8
caspase 8
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
G
Cav1
caveolin 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease
ClinVar
PMID:25741868 PMID:30029678
NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
G
Cd28
Cd28 molecule
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:67,546,408...67,573,858
Ensembl chr 9:67,546,408...67,571,871
G
Cdh2
cadherin 2
ISO
mRNA:increased expression:lung
RGD
PMID:25593290
RGD:38500244
NCBI chr18:8,146,971...8,366,037
Ensembl chr18:8,146,971...8,360,684
G
Cdk15
cyclin-dependent kinase 15
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:66,059,765...66,153,729
Ensembl chr 9:66,058,047...66,148,087
G
Cflar
CASP8 and FADD-like apoptosis regulator
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:65,534,608...65,586,395
Ensembl chr 9:65,534,704...65,587,251
G
Clk1
CDC-like kinase 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:65,296,777...65,308,017
Ensembl chr 9:65,296,778...65,307,995
G
Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
G
Ctnnd1
catenin delta 1
ISO
protein:decreased expression:lung
RGD
PMID:25593290
RGD:38500244
NCBI chr 3:72,001,904...72,053,047
Ensembl chr 3:72,002,152...72,053,049
G
Cyp20a1
cytochrome P450, family 20, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:67,130,222...67,179,693
Ensembl chr 9:67,130,259...67,179,692
G
Eif2ak4
eukaryotic translation initiation factor 2 alpha kinase 4
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 3:110,159,624...110,245,382
Ensembl chr 3:110,159,708...110,249,217
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:32573726 PMID:32581362
NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
G
Fam117b
family with sequence similarity 117, member B
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:66,716,969...66,784,487
Ensembl chr 9:66,716,969...66,784,487
G
Fam126b
family with sequence similarity 126, member B
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:65,406,136...65,478,399
Ensembl chr 9:65,406,138...65,442,257
G
Flacc1
flagellum associated containing coiled-coil domains 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:65,665,663...65,693,822
Ensembl chr 9:65,665,664...65,693,822
G
Fzd7
frizzled class receptor 7
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:66,305,731...66,308,550
Ensembl chr 9:66,305,731...66,308,550
G
Gjb2
gap junction protein, beta 2
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25741868
NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
G
Hydin
Hydin, axonemal central pair apparatus protein
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25741868
NCBI chr19:41,036,507...41,379,634
Ensembl chr19:41,036,510...41,379,588
G
Ica1l
islet cell autoantigen 1-like
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:66,788,094...66,848,958
Ensembl chr 9:66,790,047...66,845,403
G
Icos
inducible T-cell co-stimulator
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:67,748,157...67,786,808
Ensembl chr 9:67,763,897...67,785,580
G
Itga5
integrin subunit alpha 5
ISO
mRNA:increased expression:lung
RGD
PMID:25593290
RGD:38500244
NCBI chr 7:144,970,444...144,993,652
Ensembl chr 7:144,970,444...144,993,652
G
Kcnk3
potassium two pore domain channel subfamily K member 3
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 6:27,154,274...27,190,209
Ensembl chr 6:27,151,612...27,190,132
G
Kctd18
potassium channel tetramerization domain containing 18
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:64,849,547...64,916,652
Ensembl chr 9:64,852,289...64,916,652
G
Mpp4
membrane palmitoylated protein 4
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:65,917,917...65,961,274
Ensembl chr 9:65,917,917...65,957,101
G
Nbeal1
neurobeachin-like 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:66,951,354...67,113,395
Ensembl chr 9:66,952,720...67,110,693
G
Ndufb3
NADH:ubiquinone oxidoreductase subunit B3
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:65,478,496...65,488,708
Ensembl chr 9:65,478,496...65,488,702
G
Nif3l1
NGG1 interacting factor 3 like 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:65,329,143...65,349,280
Ensembl chr 9:65,331,290...65,349,141
G
Nop58
NOP58 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:66,495,881...66,520,521
Ensembl chr 9:66,495,832...66,519,788
G
Orc2
origin recognition complex, subunit 2
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:65,350,630...65,387,293
Ensembl chr 9:65,350,627...65,387,169
G
Phf6
PHD finger protein 6
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25741868
NCBI chr X:158,698,353...158,739,855
Ensembl chr X:158,698,356...158,739,838 Ensembl chr X:158,698,356...158,739,838
G
Pms2
PMS1 homolog 2, mismatch repair system component
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:16144131 PMID:16283678 PMID:18602922 PMID:19283792 PMID:20205264 PMID:21239990 PMID:22658618 PMID:23012243 PMID:24033266 PMID:25525159 PMID:25637381 PMID:25741868 PMID:26467025 PMID:26895986 PMID:28492532 PMID:29489754
NCBI chr12:12,714,394...12,738,654
Ensembl chr12:12,714,394...12,738,641
G
Ppil3
peptidylprolyl isomerase like 3
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:65,315,407...65,329,145
Ensembl chr 9:65,315,410...65,329,066
G
Raph1
Ras association (RalGDS/AF-6) and pleckstrin homology domains 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:67,290,004...67,370,208
Ensembl chr 9:67,293,309...67,341,341
G
Sgo2
shugoshin 2
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:64,898,380...64,923,023
Ensembl chr 9:64,898,459...64,923,012
G
Smad9
SMAD family member 9
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease
ClinVar
PMID:25741868 PMID:30029678
NCBI chr 2:143,951,725...144,002,025
Ensembl chr 2:144,191,846...144,212,138 Ensembl chr 2:144,191,846...144,212,138
G
Sod2
superoxide dismutase 2
IEP ISO
protein:decreased expression:pulmonary artery protein:decreased expression:small pulmonary artery
RGD
PMID:20529999 , PMID:20529999
RGD:27095884 , RGD:27095884
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
G
Spats2l
spermatogenesis associated, serine-rich 2-like
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:64,643,223...64,843,963
Ensembl chr 9:64,643,281...64,843,960
G
Stradb
STE20 related adaptor beta
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:65,763,437...65,782,513
Ensembl chr 9:65,763,437...65,782,513
G
Sumo1
small ubiquitin-like modifier 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:66,453,428...66,483,614
Ensembl chr 9:66,453,438...66,483,614
G
Tbx4
T-box transcription factor 4
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease
ClinVar
PMID:25741868 PMID:30029678 PMID:32581362 PMID:32860008
NCBI chr10:73,331,864...73,362,784
Ensembl chr10:73,333,119...73,362,783
G
Tgfbr1
transforming growth factor, beta receptor 1
ISO
mRNA:increased expression:lung
RGD
PMID:25593290
RGD:38500244
NCBI chr 5:63,056,071...63,119,635
Ensembl chr 5:63,050,758...63,119,635
G
Tmem237
transmembrane protein 237
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:65,882,063...65,917,424
Ensembl chr 9:65,882,054...65,917,132
G
Trak2
trafficking kinesin protein 2
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:65,698,706...65,763,351
Ensembl chr 9:65,698,712...65,763,273
G
Twist1
twist family bHLH transcription factor 1
ISO
mRNA, protein:increased expression: pulmonary artery,lung:
RGD
PMID:25593290
RGD:38500244
NCBI chr 6:53,401,241...53,403,235
Ensembl chr 6:53,401,109...53,403,214
G
Vim
vimentin
ISO
protein:increased phosphorylation:lung
RGD
PMID:25593290
RGD:38500244
NCBI chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212
G
Wdr12
WD repeat domain 12
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:66,851,499...66,878,534
Ensembl chr 9:66,851,940...66,877,972
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:32165824 PMID:32573726 PMID:32581362
NCBI chr 7:142,769,942...142,787,336
Ensembl chr 7:142,776,252...142,787,335
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:25741868 PMID:26387786 PMID:28492532 PMID:32573726
NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
G
Dnm1l
dynamin 1-like
IEP
mRNA:increased expression:lung (rat)
RGD
PMID:23517027
RGD:12738217
NCBI chr11:88,830,968...88,882,271
Ensembl chr11:88,830,957...88,880,198
G
Fis1
fission, mitochondrial 1
IEP
mRNA:increased expression:lung (rat)
RGD
PMID:23517027
RGD:12738217
NCBI chr12:22,750,485...22,765,324
Ensembl chr12:22,750,485...22,765,308
G
Gucy1a1
guanylate cyclase 1 soluble subunit alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25373139
NCBI chr 2:181,045,694...181,103,321
Ensembl chr 2:181,045,703...181,102,918
G
Hmox1
heme oxygenase 1
IEP
protein:increased expression:lung
RGD
PMID:21296072
RGD:10755745
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
G
Mfn2
mitofusin 2
IEP
mRNA:decreased expression:lung (rat)
RGD
PMID:23517027
RGD:12738217
NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
G
Egfr
epidermal growth factor receptor
treatment
IMP
RGD
PMID:31264901
RGD:38599217
NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
G
Egln1
egl-9 family hypoxia-inducible factor 1
IEP
RGD
PMID:16761101
RGD:11252085
NCBI chr19:57,660,194...57,701,158
Ensembl chr19:57,662,278...57,699,113
G
Egln3
egl-9 family hypoxia-inducible factor 3
IEP
RGD
PMID:16761101
RGD:11252085
NCBI chr 6:75,050,329...75,075,795
Ensembl chr 6:75,050,329...75,075,795
G
G6pd
glucose-6-phosphate dehydrogenase
treatment
IMP
RGD
PMID:25063801
RGD:10449119
NCBI chr X:156,274,800...156,293,935
Ensembl chr X:156,274,800...156,293,926
G
Got1
glutamic-oxaloacetic transaminase 1
IEP
mRNA:decreased expression:lung (rat)
RGD
PMID:19823174
RGD:4145499
NCBI chr 1:263,246,248...263,269,762
Ensembl chr 1:263,246,248...263,269,762
G
Got2
glutamic-oxaloacetic transaminase 2
IEP
mRNA:decreased expression:lung (rat)
RGD
PMID:19823174
RGD:4145499
NCBI chr19:9,587,637...9,613,323
Ensembl chr19:9,587,653...9,613,340
G
Hpgd
15-hydroxyprostaglandin dehydrogenase
IEP
mRNA, protein:increased expression:lung
RGD
PMID:24657469
RGD:11667099
NCBI chr16:37,457,134...37,495,758
Ensembl chr16:37,457,135...37,495,758
G
Mfn2
mitofusin 2
IEP
mRNA, protein:decreased expression:lung (rat)
RGD
PMID:26485208
RGD:12910856
NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
G
Nog
noggin
IEP
mRNA,protein:decreased expression:lung:
RGD
PMID:25740156
RGD:12801489
NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
G
Nos3
nitric oxide synthase 3
IEP
mRNA,protein:increased expression:pulmonary artery
RGD
PMID:9950873
RGD:11533933
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
G
Slc39a12
solute carrier family 39 member 12
severity
IMP
RGD
PMID:26258299 , PMID:26258299
RGD:10401832 , RGD:10401832
NCBI chr17:81,455,731...81,541,742
Ensembl chr17:81,455,955...81,541,759
G
Slc39a12em77Tja
solute carrier family 39 (zinc transporter), member 12; zinc finger nuclease induced mutant 77, Timothy J. Aitman
severity
IMP
RGD
PMID:26258299 , PMID:26258299
RGD:10401832 , RGD:10401832
G
Atf4
activating transcription factor 4
IEP
protein:increased expression:lung
RGD
PMID:32209028
RGD:38549370
NCBI chr 7:121,480,723...121,482,781
Ensembl chr 7:121,480,723...121,482,772
G
Bmpr2
bone morphogenetic protein receptor type 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 9:66,568,074...66,683,019
Ensembl chr 9:66,568,074...66,676,494
G
Ddit3
DNA-damage inducible transcript 3
ISO IEP
protein:increased expression:lung, endothelial cell
RGD
PMID:32209028 , PMID:32209028
RGD:38549370 , RGD:38549370
NCBI chr 7:70,578,564...70,585,074
Ensembl chr 7:70,580,198...70,585,084
G
Eif2ak2
eukaryotic translation initiation factor 2-alpha kinase 2
IEP
protein:increased expression:lung
RGD
PMID:32209028
RGD:38549370
NCBI chr 6:1,428,845...1,466,193
Ensembl chr 6:1,428,834...1,466,201
G
Eif2ak3
eukaryotic translation initiation factor 2 alpha kinase 3
IEP
protein:increased expression:lung
RGD
PMID:32209028
RGD:38549370
NCBI chr 4:98,648,513...98,709,695
Ensembl chr 4:98,648,545...98,709,694
G
Eif2ak4
eukaryotic translation initiation factor 2 alpha kinase 4
disease_progression
ISO IEP
CTD Direct Evidence: marker/mechanism protein:decreased expression:lung
CTD
PMID:24292273 , PMID:32209028 , PMID:32209028
RGD:38549370 , RGD:38549370
NCBI chr 3:110,159,624...110,245,382
Ensembl chr 3:110,159,708...110,249,217
G
Erg
ETS transcription factor ERG
IEP ISO
protein:decreased expression:lung
RGD
PMID:32209028 , PMID:32209028
RGD:38549370 , RGD:38549370
NCBI chr11:35,645,317...35,749,637
Ensembl chr11:35,646,116...35,749,594
G
Hmox1
heme oxygenase 1
ISO IEP
protein:increased expression:lung, endothelial cell
RGD
PMID:32209028 , PMID:32209028
RGD:38549370 , RGD:38549370
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
G
Kcnk3
potassium two pore domain channel subfamily K member 3
IDA
RGD
PMID:32209028
RGD:38549370
NCBI chr 6:27,154,274...27,190,209
Ensembl chr 6:27,151,612...27,190,132
G
Bmpr2
bone morphogenetic protein receptor type 2
ISO
ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1, autosomal dominant
OMIM ClinVar
PMID:11115378 PMID:12446270 PMID:16429395 PMID:16429403 PMID:18626305 PMID:20534176 PMID:25741868 PMID:26387786
NCBI chr 9:66,568,074...66,683,019
Ensembl chr 9:66,568,074...66,676,494
G
Eif2ak4
eukaryotic translation initiation factor 2 alpha kinase 4
ISO
ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1, autosomal dominant
ClinVar
PMID:24033266
NCBI chr 3:110,159,624...110,245,382
Ensembl chr 3:110,159,708...110,249,217
G
Eif2ak4
eukaryotic translation initiation factor 2 alpha kinase 4
ISO
ClinVar Annotator: match by term: Pulmonary venoocclusive disease 2, autosomal recessive ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis ClinVar Annotator: match by OMIM:234810
OMIM ClinVar
PMID:24033266 PMID:24135949 PMID:24292273 PMID:25512148 PMID:26387786 PMID:32581362
NCBI chr 3:110,159,624...110,245,382
Ensembl chr 3:110,159,708...110,249,217
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
16091
disease of anatomical entity
15341
respiratory system disease
2711
lung disease
1600
pulmonary hypertension
302
Dursun Syndrome
1
Familial Cirrhosis with Pulmonary Hypertension
0
HUPRA Syndrome
1
Pulmonary Arterial Hypertension +
57
Pulmonary Edema of Mountaineers
5
Pulmonary Hypertension, Chronic Thromboembolic, without Deep Vein Thrombosis
0
Pulmonary Hypertension, Hypoxia-Induced
20
Rowley-Rosenberg Syndrome
0
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency
0
persistent fetal circulation syndrome
32
primary pulmonary hypertension +
22
pulmonary venoocclusive disease +
9
Path 2
disease
16091
disease of anatomical entity
15341
cardiovascular system disease
4370
vascular disease
3315
artery disease
2363
hypertension
1494
pulmonary hypertension
302
Dursun Syndrome
1
Familial Cirrhosis with Pulmonary Hypertension
0
HUPRA Syndrome
1
Pulmonary Arterial Hypertension +
57
Pulmonary Edema of Mountaineers
5
Pulmonary Hypertension, Chronic Thromboembolic, without Deep Vein Thrombosis
0
Pulmonary Hypertension, Hypoxia-Induced
20
Rowley-Rosenberg Syndrome
0
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency
0
persistent fetal circulation syndrome
32
primary pulmonary hypertension +
22
pulmonary venoocclusive disease +
9