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: A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries. (DO)
Synonyms: exact_synonym: PHT
narrow_synonym: PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED; primary pulmonary hypertension, fenfluramine-associated
primary_id: MESH:D006976
xref: EFO:0001361 ; ICD10CM:I27.20 ; NCI:C3120
For additional species annotation, visit the
Alliance of Genome Resources .
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Abca3
ATP binding cassette subfamily A member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26780485
NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745
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Ace
angiotensin I converting enzyme
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12359135
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Ace2
angiotensin converting enzyme 2
treatment
ISO
CTD Direct Evidence: therapeutic human protein in a rat model
CTD RGD
PMID:31931441 PMID:25225206
RGD:40818280
NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977
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Acvrl1
activin A receptor like type 1
susceptibility disease_progression
ISO IEP
associated with hereditary haemorrhagic telangiectasia;DNA:missense mutations mRNA:increased expression:lung DNA:mutations (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:26540443 PMID:14684682 PMID:17392319 PMID:20056902
RGD:1601117 , RGD:1601116 , RGD:5128837
NCBI chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591
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Adh5
alcohol dehydrogenase 5 (class III), chi polypeptide
ISO
RGD
PMID:20431245
RGD:5128886
NCBI chr 2:226,975,184...226,987,591
Ensembl chr 2:226,947,466...226,987,591
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
RGD
PMID:19168697
RGD:5686821
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Adm
adrenomedullin
ISO
RGD
PMID:14718403
RGD:1625305
NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654
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Ager
advanced glycosylation end product-specific receptor
ISO
protein:increased expression:lung (human)
RGD
PMID:21041689
RGD:7244258
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Agt
angiotensinogen
IDA
RGD
PMID:21381494
RGD:5129162
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Agtr1a
angiotensin II receptor, type 1a
onset
ISO
DNA:polymorphism:3' utr:1166A>C (human)
RGD
PMID:19332265
RGD:5147450
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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Ahr
aryl hydrocarbon receptor
ameliorates
IMP
6-formylindolo[3,2-b]carbazole (FICZ)|semaxanib (CHEBI:91083) compared to wild type littermates
RGD
PMID:33836606 PMID:33836606
RGD:401940192 , RGD:401940192
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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Ahrem1Iexas
aryl hydrocarbon receptor; CRISPR/Cas9 induced mutant1, Iexas
ameliorates
IMP
compared to wild type littermates
RGD
PMID:33836606
RGD:401940192
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Alas1
5'-aminolevulinate synthase 1
IEP
mRNA:increased expression:lung (rat)
RGD
PMID:16181105
RGD:4144185
NCBI chr 8:106,876,514...106,889,917
Ensembl chr 8:106,876,514...106,889,917
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Alox5
arachidonate 5-lipoxygenase
treatment
ISO IEP IMP IDA
protein:increased expression:artery CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:14726295 PMID:9445303 PMID:31462075 PMID:31462075 PMID:14726295 PMID:8647941 More...
RGD:1626154 , RGD:14975304 , RGD:14975304 , RGD:4890418 , RGD:734558
NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
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Alox5ap
arachidonate 5-lipoxygenase activating protein
ISO IMP
protein:increased expression:artery
RGD
PMID:9445303 PMID:8647941
RGD:1626154 , RGD:734558
NCBI chr12:5,748,941...5,772,986
Ensembl chr12:5,748,944...5,772,986
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Angpt1
angiopoietin 1
IEP
protein:decreased expression:pulmonary artery
RGD
PMID:18073453
RGD:2316069
NCBI chr 7:73,528,345...73,783,953
Ensembl chr 7:73,531,486...73,784,067
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Angpt2
angiopoietin 2
IEP
protein:increased expression:pulmonary artery (rat)
RGD
PMID:19712575
RGD:2314185
NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
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Apln
apelin
ISO
protein:decreased expression:plasma
RGD
PMID:16263185
RGD:1626175
NCBI chr X:127,180,801...127,213,567
Ensembl chr X:127,203,823...127,213,391
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Arg2
arginase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24951775
NCBI chr 6:97,936,002...97,961,379
Ensembl chr 6:97,936,002...97,961,378
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Atp2a2
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
treatment
IEP ISO
RGD
PMID:27144451 PMID:23804254
RGD:13782086 , RGD:13782089
NCBI chr12:34,072,710...34,122,142
Ensembl chr12:34,072,683...34,122,101
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Atp5f1a
ATP synthase F1 subunit alpha
treatment
IDA
chronic thromboembolic pulmonary hypertension
RGD
PMID:21396162
RGD:13703061
NCBI chr18:71,292,406...71,300,342
Ensembl chr18:71,292,374...71,300,794
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Atp5pf
ATP synthase peripheral stalk subunit F6
treatment
IEP IMP
mRNA, protein:increased expression:lung, plasma (rat)
RGD
PMID:27916219 PMID:27491388
RGD:13800892 , RGD:13800894
NCBI chr11:23,881,594...23,889,581
Ensembl chr11:23,881,592...23,889,119
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Atp7a
ATPase copper transporting alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24614111
NCBI chr X:71,094,144...71,201,550
Ensembl chr X:71,094,202...71,198,354
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Bcl2
BCL2, apoptosis regulator
IEP
protein:decreased expression:heart right ventricle
RGD
PMID:18441466
RGD:2293022
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Bcl2l1
Bcl2-like 1
treatment
IDA
RGD
PMID:22559233
RGD:10400914
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
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Bdkrb2
bradykinin receptor B2
IDA
RGD
PMID:15878794
RGD:4890453
NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497
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Birc5
baculoviral IAP repeat-containing 5
IMP IEP
protein:increased expression:pulmonary artery
RGD
PMID:15931388 PMID:15931388
RGD:2293135 , RGD:2293135
NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
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Bmpr1a
bone morphogenetic protein receptor type 1A
ISO
RGD
PMID:19324947
RGD:5129472
NCBI chr16:9,736,390...9,829,825
Ensembl chr16:9,736,630...9,780,616
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Bmpr1b
bone morphogenetic protein receptor type 1B
ISO
RGD
PMID:19324947
RGD:5129472
NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368
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Bmpr2
bone morphogenetic protein receptor type 2
treatment disease_progression
ISO IMP IEP
DNA:mutations: :multiple (human) induced by human ad-ALOX5 protein:decreased expression:lung CTD Direct Evidence: marker/mechanism DNA:missense mutations (human)
CTD RGD
PMID:11590841 PMID:11893684 PMID:12358323 PMID:16297860 PMID:20496075 PMID:20522807 PMID:23383100 PMID:23502781 PMID:24224048 PMID:20002458 PMID:31462075 PMID:21737550 PMID:25593290 PMID:15775752 PMID:18663089 PMID:20534176 PMID:19785764 PMID:19324947 More...
RGD:5129238 , RGD:14975304 , RGD:38500243 , RGD:38500244 , RGD:1580076 , RGD:5129474 , RGD:5129237 , RGD:5129239 , RGD:5129472
NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
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Bmpr2em1Sage
bone morphogenetic protein receptor type 2; ZFN induced mutant 1, Sage
IMP
induced by human ad-ALOX5
RGD
PMID:31462075
RGD:14975304
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Bmpr2em2Sage
bone morphogenetic protein receptor type 2; ZFN induced mutant 2, Sage
IMP
induced by human ad-ALOX5
RGD
PMID:31462075
RGD:14975304
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Brd4
bromodomain containing 4
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:26224795
NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539
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Calca
calcitonin-related polypeptide alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:1357980
NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105
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Car9
carbonic anhydrase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20110409
NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838
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Casr
calcium-sensing receptor
IEP
protein:increased expression:pulmonary artery (rat)
RGD
PMID:22730443
RGD:7205669
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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Cav1
caveolin 1
treatment
ISO IEP
idiopathic pulmonary arterial hypertension (IPAH)
RGD
PMID:17470567 PMID:23538027 PMID:15353500
RGD:1625360 , RGD:8662276 , RGD:1581153
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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Cavin1
caveolae associated protein 1
ISS
OMIM:615371
MouseDO
NCBI chr10:85,884,100...85,896,136
Ensembl chr10:85,889,036...85,896,120
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Cbln2
cerebellin 2 precursor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23502781
NCBI chr18:79,940,412...79,948,766
Ensembl chr18:79,942,590...79,947,855
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Ccl1
C-C motif chemokine ligand 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22507635
NCBI chr10:67,128,331...67,131,109
Ensembl chr10:67,128,331...67,131,159
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Ccl2
C-C motif chemokine ligand 2
IEP ISO
protein:increased expression:lung, plasma CTD Direct Evidence: marker/mechanism protein:increased expression:bronchoalveolar lavage fluid (rat)
CTD RGD
PMID:15302794 PMID:30418988 PMID:19087668 PMID:9605182
RGD:2307003 , RGD:8549547
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccl5
C-C motif chemokine ligand 5
ISO
protein:increased secretion:serum (human)
RGD
PMID:19932032
RGD:4891440
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Ccn2
cellular communication network factor 2
IEP
protein:increased expression:pulmonary artery (rat)
RGD
PMID:19234054
RGD:2314535
NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
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Cd209c
CD209c molecule
ISO
RGD
PMID:17107989
RGD:5131187
NCBI chr12:1,936,233...1,943,841
Ensembl chr12:1,936,396...1,942,040
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Cd209d
CD209d molecule
ISO
RGD
PMID:17107989
RGD:5131187
NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
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Cd28
Cd28 molecule
ISO
RGD
PMID:19075187
RGD:5131619
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
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Cd40
CD40 molecule
treatment
IMP
RGD
PMID:25998782
RGD:11344970
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd40lg
CD40 ligand
IEP ISO
protein:increased expression:serum (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15302794 PMID:25998782
RGD:11344970
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Cd86
CD86 molecule
ISO
protein:decreased expression:blood, myeloid dendritic cell (human)
RGD
PMID:19693657
RGD:4892293
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Cdh5
cadherin 5
IEP
protein:decreased expression:lung
RGD
PMID:25593290
RGD:38500244
NCBI chr19:815,415...854,478
Ensembl chr19:815,411...854,368
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
treatment
ISO IEP
RGD
PMID:24334871 PMID:24412385
RGD:10043360 , RGD:10043361
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Cdkn1b
cyclin-dependent kinase inhibitor 1B
treatment
IEP
RGD
PMID:22383500
RGD:10045357
NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
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Clu
clusterin
IEP
RGD
PMID:25069740
RGD:9068424
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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Col1a1
collagen type I alpha 1 chain
treatment
IEP
RGD
PMID:25867313
RGD:11041577
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Col4a1
collagen type IV alpha 1 chain
treatment
IEP
RGD
PMID:25867313
RGD:11041577
NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
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Crp
C-reactive protein
ISO
associated with Pulmonary Disease, Chronic Obstructive
RGD
PMID:22333502
RGD:6482312
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Csf3
colony stimulating factor 3
treatment
ISO
RGD
PMID:17186992 PMID:12524378
RGD:11039432 , RGD:11039539
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Ctnnd1
catenin delta 1
treatment
IEP
RGD
PMID:25593290
RGD:38500244
NCBI chr 3:69,683,328...69,734,550
Ensembl chr 3:69,683,313...69,734,516
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Cx3cl1
C-X3-C motif chemokine ligand 1
ISO IEP
protein:increased expression:lung associated with Heart Defects, Congenital mRNA, protein:increased expression:lung
RGD
PMID:19948918 PMID:20869263 PMID:18630689
RGD:4891887 , RGD:4891883 , RGD:4891889
NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
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Cx3cr1
C-X3-C motif chemokine receptor 1
IEP ISO
mRNA, protein:increased expression:lung associated with Scleroderma, Systemic;DNA:polymorphisms: :p.V249I, p.T280M (human)
RGD
PMID:17182651 PMID:16584113
RGD:4891893 , RGD:4891896
NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
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Cxcr4
C-X-C motif chemokine receptor 4
treatment
IMP
RGD
PMID:21294880
RGD:6480473
NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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Cyba
cytochrome b-245 alpha chain
IDA ISO
associated with Anoxia;mRNA, protein:increased expression:lung
RGD
PMID:18424632 PMID:18952568
RGD:4773907 , RGD:4762683
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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Cybb
cytochrome b-245 beta chain
treatment
ISO IEP
associated with Anoxia
RGD
PMID:18952568 PMID:18424632
RGD:4762683 , RGD:4773907
NCBI chr X:13,358,101...13,392,570
Ensembl chr X:13,359,430...13,392,586
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
IEP
mRNA,protein:increased expression:lung
RGD
PMID:28956952
RGD:13702097
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Cyp2j4
cytochrome P450, family 2, subfamily j, polypeptide 4
ISO
RGD
PMID:20118222
RGD:7243137
NCBI chr 5:111,179,981...111,207,490
Ensembl chr 5:111,178,703...111,244,794
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Cysltr1
cysteinyl leukotriene receptor 1
IMP
associated with Anoxia
RGD
PMID:12910720
RGD:4848274
NCBI chr X:71,661,421...71,690,012
Ensembl chr X:71,663,821...71,690,121
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Dll4
delta like canonical Notch ligand 4
ISO
RGD
PMID:34739767
RGD:155646132
NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931
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Ece1
endothelin converting enzyme 1
IMP
associated with Anoxia;
RGD
PMID:18767389
RGD:7243939
NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371
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Edn1
endothelin 1
ISO IEP
associated with Pulmonary Disease, Chronic Obstructive; protein:increased secretion:plasma (human) CTD Direct Evidence: marker/mechanism mRNA:increased expression:lung (rat) Hypertension, Portopulmonary; protein:increased secretion:plasma (human) Hypertension, Heritable Pulmonary Artery; mRNA:increased expression:bone marrow, macrophage (mouse)
CTD RGD
PMID:7549228 PMID:9918753 PMID:12391278 PMID:20929026 PMID:20967148 PMID:20890431 PMID:20889845 PMID:20498147 PMID:20562228 More...
RGD:4144865 , RGD:4144128 , RGD:4144882 , RGD:4144877
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Edn2
endothelin 2
ISO
RGD
PMID:10598486
RGD:1580918
NCBI chr 5:133,751,316...133,756,814
Ensembl chr 5:133,751,217...133,756,814
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Ednra
endothelin receptor type A
IMP IDA ISO
RGD
PMID:20531217 PMID:15243299 PMID:20562228 PMID:18506008
RGD:4892283 , RGD:1580949 , RGD:4144877 , RGD:4892320
NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
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Ednrb
endothelin receptor type B
IMP ISO IDA
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15927975 PMID:18091567 PMID:15243299 PMID:20562228
RGD:4892289 , RGD:1580949 , RGD:4144877
NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
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Egfr
epidermal growth factor receptor
ISO
protein:increased expression:lung, arteriole (human)
RGD
PMID:12896876 PMID:21492463
RGD:5131639 , RGD:5131626
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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Egr1
early growth response 1
ISO IEP
protein:increased expression:lung (human) mRNA, protein:increased expression:lung (rat) mRNA, protein:increased expression:lung (mouse)
RGD
PMID:20889906 PMID:21924231 PMID:20889906 PMID:20023177 PMID:18599502
RGD:5131875 , RGD:10395308 , RGD:5131875 , RGD:5131883 , RGD:5131890
NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
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Eif2ak4
eukaryotic translation initiation factor 2 alpha kinase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24292273
NCBI chr 3:105,356,261...105,441,630
Ensembl chr 3:105,356,261...105,441,630
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Eng
endoglin
ISO
RGD
PMID:20042709
RGD:11041178
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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Epas1
endothelial PAS domain protein 1
IEP ISO
DNA:missense mutation:cds: 2097G>A,p.G537R(human)
RGD
PMID:16215633 PMID:18650473
RGD:10395375 , RGD:11041573
NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228
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Ephx2
epoxide hydrolase 2
IMP
RGD
PMID:19226702
RGD:5688731
NCBI chr15:40,289,901...40,327,632
Ensembl chr15:40,289,902...40,327,615
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Epo
erythropoietin
treatment
ISO
RGD
PMID:22559233
RGD:10400914
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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Esr1
estrogen receptor 1
ISO
RGD
PMID:20081107
RGD:4892253
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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Esr2
estrogen receptor 2
IDA
RGD
PMID:21700911
RGD:5508791
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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F5
coagulation factor V
ISO
Chronic thromboembolic pulmonary hypertension (CTEPH)
RGD
PMID:20182352
RGD:4892669
NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317
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Fbln5
fibulin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12189163
NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755
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Fgf2
fibroblast growth factor 2
IMP ISO
mRNA:increased expression:lung
RGD
PMID:19197140 PMID:19197140
RGD:2315911 , RGD:2315911
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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Fgfr1
Fibroblast growth factor receptor 1
IMP
RGD
PMID:19197140
RGD:2315911
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Foxo1
forkhead box O1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27663689
NCBI chr 2:136,312,168...136,390,603
Ensembl chr 2:136,312,168...136,387,790
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Gata4
GATA binding protein 4
IEP
protein:increased expression:heart right ventricle
RGD
PMID:21059997
RGD:7207053
NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
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Gata6
GATA binding protein 6
IEP ISO
mRNA, protein:decreased expression:lung protein:decreased expression:lung, arteriole, venule (human)
RGD
PMID:19842842 PMID:23583651 PMID:23583651
RGD:2314194 , RGD:13208869 , RGD:13208869
NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532
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Gba1
glucosylceramidase beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12359135
NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
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Gdf2
growth differentiation factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26801773
NCBI chr16:9,255,430...9,261,429
Ensembl chr16:9,255,430...9,261,429
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Gja1
gap junction protein, alpha 1
treatment
IEP
mRNA:increased expression:pulmonary artery
RGD
PMID:21414209 PMID:23321332
RGD:7207411 , RGD:8662411
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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Gpr182
G protein-coupled receptor 182
IEP
mRNA:increased expression:lung
RGD
PMID:12622928
RGD:1625768
NCBI chr 7:63,585,997...63,589,088
Ensembl chr 7:63,578,750...63,589,210
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Has1
hyaluronan synthase 1
IEP
RGD
PMID:19915162
RGD:9588633
NCBI chr 1:58,693,411...58,705,653
Ensembl chr 1:58,693,411...58,705,397
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Has2
hyaluronan synthase 2
IEP
mRNA:increased expression:lung
RGD
PMID:19915162
RGD:9588633
NCBI chr 7:88,113,326...88,139,337
Ensembl chr 7:88,113,326...88,128,933
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Has3
hyaluronan synthase 3
IEP
mRNA:decreased expression:lung
RGD
PMID:19915162
RGD:9588633
NCBI chr19:34,768,421...34,782,170
Ensembl chr19:34,771,982...34,782,592
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Hdac1
histone deacetylase 1
ISO IEP
protein:increased expression:lung:
RGD
PMID:22711276 PMID:22711276
RGD:9590133 , RGD:9590133
NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111
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Hdac2
histone deacetylase 2
ISO
protein:decreased expression:lung:
RGD
PMID:22711276
RGD:9590133
NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609
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Hdac3
histone deacetylase 3
ISO
protein:decreased expression:lung:
RGD
PMID:22711276
RGD:9590133
NCBI chr18:29,770,637...29,789,850
Ensembl chr18:29,770,636...29,793,856
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Hdac4
histone deacetylase 4
ISO
protein:increased expression:lung:
RGD
PMID:22711276
RGD:9590133
NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
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Hdac5
histone deacetylase 5
ISO IEP
protein:increased expression:lung:
RGD
PMID:22711276 PMID:22711276
RGD:9590133 , RGD:9590133
NCBI chr10:87,152,978...87,187,921
Ensembl chr10:87,152,978...87,188,235
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Hey1
hes-related family bHLH transcription factor with YRPW motif 1
ISO
mRNA:decreased expression:lung:
RGD
PMID:34739767
RGD:155646132
NCBI chr 2:93,096,605...93,100,316
Ensembl chr 2:93,095,498...93,100,312
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Hif1a
hypoxia inducible factor 1 subunit alpha
IEP ISO
associated with Anoxia;protein:increased expression:pulmonary artery CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20110409 PMID:17213961 PMID:16215633
RGD:1601553 , RGD:10395375
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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Hif3a
hypoxia inducible factor 3 subunit alpha
IEP
RGD
PMID:16215633
RGD:10395375
NCBI chr 1:77,718,110...77,750,448
Ensembl chr 1:77,722,471...77,749,758
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Hk1
hexokinase 1
IEP
mRNA:increased expression:lung
RGD
PMID:25767292
RGD:11353880
NCBI chr20:30,230,488...30,332,099
Ensembl chr20:30,230,486...30,332,131
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Hmgb1
high mobility group box 1
treatment
IMP
RGD
PMID:25032709
RGD:10402082
NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565 Ensembl chr16:5,901,586...5,978,565
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Hmgcr
3-hydroxy-3-methylglutaryl-CoA reductase
IMP
RGD
PMID:12750068
RGD:5508701
NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
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Hmox1
heme oxygenase 1
IEP ISO IDA
RGD
PMID:14970910 PMID:20957739 PMID:19409105
RGD:1582715 , RGD:4145325 , RGD:4145307
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Hp
haptoglobin
treatment
ISO
protein:decreased expression:serum
RGD
PMID:2043024 PMID:25656991 PMID:19023114 PMID:19703762
RGD:1626353 , RGD:11041794 , RGD:5147440 , RGD:5147420
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Hpgd
15-hydroxyprostaglandin dehydrogenase
ISO
mRNA, protein:increased expression:lung
RGD
PMID:24657469
RGD:11667099
NCBI chr16:33,986,265...34,024,228
Ensembl chr16:33,986,266...34,024,228
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Htr1b
5-hydroxytryptamine receptor 1B
ameliorates
ISO
RGD
PMID:28473438
RGD:329955562
NCBI chr 8:82,513,572...82,534,670
Ensembl chr 8:82,517,360...82,534,549
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Htr2b
5-hydroxytryptamine receptor 2B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14659797
NCBI chr 9:86,735,793...86,756,638
Ensembl chr 9:86,742,102...86,755,108
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Hyal1
hyaluronidase 1
IEP
mRNA:decreased expression:lung
RGD
PMID:19915162
RGD:9588633
NCBI chr 8:108,250,668...108,254,519
Ensembl chr 8:108,250,667...108,260,210
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Hyal2
hyaluronidase 2
IEP
mRNA:decreased expression:lung
RGD
PMID:19915162
RGD:9588633
NCBI chr 8:108,241,895...108,246,853
Ensembl chr 8:108,243,133...108,246,850
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Icam1
intercellular adhesion molecule 1
ISO
associated with Heart Defects, Congenital; protein:increased secretion:serum (human)
RGD
PMID:21034646
RGD:4145436
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Id1
inhibitor of DNA binding 1
IDA
RGD
PMID:20522807
RGD:9686087
NCBI chr 3:141,210,666...141,212,420
Ensembl chr 3:141,211,267...141,212,419
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Ifngr1
interferon gamma receptor 1
ISO
mRNA: increased expression
RGD
PMID:20808962
RGD:4892610
NCBI chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785
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Il10
interleukin 10
disease_progression
ISO
protein:increased expression:serum
RGD
PMID:20713898
RGD:4142530
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il13
interleukin 13
ISO
associated with sclerosis; protein:increased expression:plasma (human) associated with Scleroderma, Limited;protein:increased expression:plasma
RGD
PMID:19799786 PMID:21425123
RGD:4145600 , RGD:8549528
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il13ra1
interleukin 13 receptor subunit alpha 1
ISO
RGD
PMID:20671265 PMID:20808962
RGD:4892611 , RGD:4892610
NCBI chr X:115,348,822...115,408,682
Ensembl chr X:115,348,860...115,408,681 Ensembl chr11:115,348,860...115,408,681
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Il13ra2
interleukin 13 receptor subunit alpha 2
ISO
mRNA:increased expression:lung
RGD
PMID:20522789
RGD:4892612
NCBI chr X:111,002,590...111,074,053
Ensembl chr X:111,002,592...111,072,381
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Il18
interleukin 18
ISO
RGD
PMID:17400729
RGD:4889590
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il1b
interleukin 1 beta
ISO
protein:increased expression:serum associated with Scleroderma, Limited;protein:increased expression:serum
RGD
PMID:20713898 PMID:20808962
RGD:4142530 , RGD:4892610
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1rn
interleukin 1 receptor antagonist
ISO
RGD
PMID:7946395
RGD:4143197
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il23r
interleukin 23 receptor
ISO
associated with Scleroderma, Systemic;DNA:SNPs: :rs11209026, rs11465804 (human)
RGD
PMID:19918037
RGD:5096624
NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
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Il4
interleukin 4
ISO
RGD
PMID:20889544
RGD:5128515
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Il6
interleukin 6
disease_progression ameliorates
ISO IMP IDA
RGD
PMID:20713898 PMID:38602915 PMID:20693255
RGD:4142530 , RGD:407450417 , RGD:4143246
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Il6em1Yona
interleukin 6; CRISPR/Cas9 induced mutant 1, Yona
ameliorates
IMP
RGD
PMID:38602915
RGD:407450417
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Kcna5
potassium voltage-gated channel subfamily A member 5
ISO IDA
DNA:SNPs:promoter, cds CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:27522126 PMID:17267549 PMID:20303989 PMID:17596340
RGD:1627654 , RGD:7242752 , RGD:1627651
NCBI chr 4:159,354,689...159,358,173
Ensembl chr 4:159,350,097...159,357,697
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Kcnk3
potassium two pore domain channel subfamily K member 3
severity
ISO IMP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:30365877 PMID:31347976
RGD:151347452
NCBI chr 6:25,761,487...25,799,153
Ensembl chr 6:25,763,228...25,799,153
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Kcnk3em1Ang
potassium two pore domain channel subfamily K member 3; CRISPR/Cas9 induced mutant1, Ang
severity
IMP
RGD
PMID:31347976
RGD:151347452
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Kcnma1
potassium calcium-activated channel subfamily M alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28090300
NCBI chr15:302,480...1,007,675
Ensembl chr15:302,214...1,001,198
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Kdm5b
lysine demethylase 5B
ISO
associated with Hypoxia;protein:increased expression:pulmonary artery,smooth muscle tissue (mouse)
RGD
PMID:30172777
RGD:329955443
NCBI chr13:46,001,589...46,073,868
Ensembl chr13:46,002,542...46,073,872
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Lcn2
lipocalin 2
IEP ISO
mRNA,protein:increased expression:lung associated with congenital heart disease; protein:increased expression:plasma
RGD
PMID:25076856 PMID:25076856
RGD:126781744 , RGD:126781744
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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Lepr
leptin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30689673
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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Lox
lysyl oxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24614111
NCBI chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477
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Mapk1
mitogen activated protein kinase 1
treatment
ISO
RGD
PMID:25907942
RGD:13800893
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
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Mapk3
mitogen activated protein kinase 3
treatment
ISO
RGD
PMID:25907942
RGD:13800893
NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
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Mfn1
mitofusin 1
IEP
protein:decreased expression:heart right ventricle (rat)
RGD
PMID:27422986
RGD:12910832
NCBI chr 2:115,313,380...115,359,651
Ensembl chr 2:115,313,401...115,359,640
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Mif
macrophage migration inhibitory factor
ISO
associated with sclerodema, systemic; protein:increased expression:serum
RGD
PMID:18618071
RGD:4891006
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
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Mir125a
microRNA 125a
treatment
IDA
RGD
PMID:29700287
RGD:26884455
NCBI chr 1:58,677,626...58,677,710
Ensembl chr 1:58,677,626...58,677,710
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Mir145
microRNA 145
IEP
mRNA:decreased expression:pulmonary artery (rat)
RGD
PMID:35369850
RGD:155230820
NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727
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Mir204
microRNA 204
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26224795
NCBI chr 1:220,316,931...220,317,040
Ensembl chr 1:220,316,931...220,317,040
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Mir21
microRNA 21
IEP
RNA:increased expression:lung
RGD
PMID:32402408
RGD:41410883
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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Mir223
microRNA 223
treatment
IEP IDA ISO
Chronic Intermittent Hypoxia RNA:decreased expression:lung, pulmonary aorta, pulmonary aorta smooth muscle
RGD
PMID:30246291 PMID:30507047 PMID:26084306 PMID:26084306
RGD:25823198 , RGD:25824849 , RGD:25824847 , RGD:25824847
NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996
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Mmp1
matrix metallopeptidase 1
IDA
RGD
PMID:23087098
RGD:7207217
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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Mmp9
matrix metallopeptidase 9
severity
ISO IDA IEP
associated with Heart Failure, Congestive;protein:decreased expression:monocyte associated with Pulmonary Embolism;protein:increased expression:lung, plasma
RGD
PMID:21063214 PMID:23087098 PMID:16867026 PMID:17133179 PMID:18355767
RGD:5129210 , RGD:7207217 , RGD:1642028 , RGD:1642053 , RGD:5130155
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Mtor
mechanistic target of rapamycin kinase
IMP
RGD
PMID:23470622
RGD:10041039
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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Myc
MYC proto-oncogene, bHLH transcription factor
treatment
IDA
RGD
PMID:22306243
RGD:7240564
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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Nampt
nicotinamide phosphoribosyltransferase
susceptibility
ISO IEP
mRNA,protein:increased expression:lung,pulmonary arterial endothelial cell: protein:increased expression:lung:
RGD
PMID:28202489 PMID:28202489 PMID:28202489
RGD:13781882 , RGD:13781882 , RGD:13781882
NCBI chr 6:49,425,316...49,462,109
Ensembl chr 6:49,424,332...49,462,100
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Nfatc2
nuclear factor of activated T-cells 2
IMP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:27522126 PMID:17596340
RGD:1627651
NCBI chr 3:157,195,970...157,328,640
Ensembl chr 3:157,198,872...157,328,325
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Nos2
nitric oxide synthase 2
onset
ISO IEP
associated with Anoxia; mouse gene in rat model associated with Anoxia; protein:increased expression:pulmonary artery associated with Congenital diaphragmatic hernia; protein:decreased expression:pulmonary artery, endothelium associated with heart disease; protein:increased expression:endothelial cell associated with Scleroderma, Systemic; DNA:repeats, SNPs:promoter:(CCTTT), c.-1026C>T, c.-277A>G (human)
RGD
PMID:11104748 PMID:16113050 PMID:16456243 PMID:19912632 PMID:16813666
RGD:4891468 , RGD:1580936 , RGD:1580940 , RGD:5132602 , RGD:4891462
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Nos3
nitric oxide synthase 3
treatment susceptibility
ISO IDA IEP IMP
DNA:polymorphism:cds:p.E298D (human) CTD Direct Evidence: marker/mechanism associated with Beta-Thalassemia;DNA:repeats:intron: RNA:increased expression:lung mRNA, protein:increased expression:pulmonary endothelial cell associated with heart disease; protein:increased expression:endothelial cell protein:increased expression:arteriole associated with chronic obstructive pulmonary disease; DNA:polymorphism:cds:p.G894T (human)
CTD RGD
PMID:21144100 PMID:21144100 PMID:29151278 PMID:25699607 PMID:11686901 PMID:20724942 PMID:19912632 PMID:21111729 PMID:19487814 PMID:20215577 PMID:17065228 PMID:18953956 More...
RGD:4892009 , RGD:13504742 , RGD:11533642 , RGD:5132631 , RGD:4892004 , RGD:5132602 , RGD:4892010 , RGD:4892039 , RGD:4892038 , RGD:4892043 , RGD:4892042
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Notch1
notch receptor 1
ameliorates
ISO
RGD
PMID:34739767
RGD:155646132
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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Nox1
NADPH oxidase 1
treatment ameliorates
ISO IEP IDA
mRNA,protein:increased expression:lung
RGD
PMID:24233492 PMID:23706097 PMID:27401289 PMID:24233492
RGD:329955359 , RGD:329955579 , RGD:329955361 , RGD:329955359
NCBI chr X:97,279,058...97,332,291
Ensembl chr X:97,279,056...97,302,236
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Nox4
NADPH oxidase 4
ISO
associated with Anoxia;mRNA, protein:increased expression:lung
RGD
PMID:18952568
RGD:4762683
NCBI chr 1:140,900,886...141,078,844
Ensembl chr 1:140,901,097...141,077,406
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Nppa
natriuretic peptide A
IDA
RGD
PMID:2136863
RGD:7247720
NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
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Nppb
natriuretic peptide B
severity
IEP ISO
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20408845 PMID:21351102 PMID:16936438 PMID:16893710
RGD:1642203 , RGD:1642205
NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
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Pde3a
phosphodiesterase 3A
IEP
mRNA:increased expression:pulmonary artery
RGD
PMID:12466227
RGD:1582528
NCBI chr 4:174,172,804...174,443,944
Ensembl chr 4:174,172,868...174,438,274
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Pde5a
phosphodiesterase 5A
IMP
RGD
PMID:19881228
RGD:2314460
NCBI chr 2:210,858,515...211,003,480
Ensembl chr 2:210,858,063...210,999,701
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Pdgfa
platelet derived growth factor subunit A
IEP
RGD
PMID:8447423
RGD:1580847
NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497
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Pdgfb
platelet derived growth factor subunit B
IEP ISO
RGD
PMID:8447423 PMID:21819559 PMID:22523431
RGD:1580847 , RGD:6482859 , RGD:6482831
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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Pdia3
protein disulfide isomerase family A, member 3
IEP
protein:increased expression:lung:
RGD
PMID:23315792
RGD:9999167
NCBI chr 3:108,388,189...108,412,013
Ensembl chr 3:108,388,245...108,413,236
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Pecam1
platelet and endothelial cell adhesion molecule 1
treatment
IDA
RGD
PMID:22559233
RGD:10400914
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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Pgf
placental growth factor
ISO
associated with Anemia, Sickle Cell;protein:increased expression:plasma associated with Heart Defects, Congenital
RGD
PMID:20040765 PMID:20195855
RGD:6483588 , RGD:6483610
NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
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Prkg1
protein kinase cGMP-dependent 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21351102
NCBI chr 1:228,409,605...229,638,794
Ensembl chr 1:228,408,947...229,639,080
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Ptgis
prostaglandin I2 synthase
treatment susceptibility
IMP ISO
protein:decreased expression:pulmonary artery (human) human gene in a rat model rat gene in a mouse model
RGD
PMID:15684702 PMID:32673988 PMID:12019369 PMID:10359560
RGD:1580695 , RGD:401960100 , RGD:401959405 , RGD:727270
NCBI chr 3:155,928,564...155,964,228
Ensembl chr 3:155,916,412...155,965,451
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Ptgs2
prostaglandin-endoperoxide synthase 2
IMP ISO
anoxia associated;
RGD
PMID:18542928 PMID:19577709
RGD:2300276 , RGD:5135495
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Ptk2
protein tyrosine kinase 2
ISO
RGD
PMID:16244766
RGD:1581290
NCBI chr 7:105,126,725...105,331,848
Ensembl chr 7:105,126,728...105,331,783
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Ramp2
receptor activity modifying protein 2
IEP
mRNA:increased expression:heart right ventricle
RGD
PMID:17437045
RGD:1642678
NCBI chr10:86,187,366...86,190,692
Ensembl chr10:86,188,812...86,231,829
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Rela
RELA proto-oncogene, NF-kB subunit
IEP ISO
protein:altered localization:nucleus, blood vessel endothelial cell, lung associated with Hypoxia;protein:increased expression:pulmonary artery,smooth muscle tissue (mouse)
RGD
PMID:17934115 PMID:30172777
RGD:2298843 , RGD:329955443
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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Rhoa
ras homolog family member A
IEP
protein:altered localization:membrane, artery, lung protein:altered localization:pulmonary artery
RGD
PMID:18091588 PMID:16322374
RGD:2298877 , RGD:1642819
NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
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Ryr1
ryanodine receptor 1
IEP
protein:altered localization: :
RGD
PMID:24692174
RGD:329813077
NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
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Ryr2
ryanodine receptor 2
IEP
protein:increased expression:pulmonary artery
RGD
PMID:22962011
RGD:329813078
NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
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Ryr3
ryanodine receptor 3
IEP
protein:altered localization: :
RGD
PMID:24692174
RGD:329813077
NCBI chr 3:99,431,755...99,979,125
Ensembl chr 3:99,432,505...99,704,961
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Serpina1
serpin family A member 1
IDA ISO
protein:decreased expression:serum
RGD
PMID:1836309 PMID:17444595
RGD:1643154 , RGD:1643144
NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
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Serpine1
serpin family E member 1
treatment
ISO IDA
mRNA, protein:decreased expression:lung DNA:polymorphism:3'utr
RGD
PMID:18337154 PMID:27115515 PMID:20300292
RGD:4143529 , RGD:11073610 , RGD:4143527
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Slc1a5
solute carrier family 1 member 5
ISO
protein:increased expression:myocytes plasma membrane, right ventricle
RGD
PMID:23794090
RGD:151361111
NCBI chr 1:77,456,849...77,470,952
Ensembl chr 1:77,456,694...77,470,952
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Slc2a4
solute carrier family 2 member 4
IEP
RGD
PMID:19043358
RGD:2313622
NCBI chr10:54,666,015...54,671,581
Ensembl chr10:54,666,015...54,671,565
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Slc31a1
solute carrier family 31 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24614111
NCBI chr 5:75,814,744...75,844,241
Ensembl chr 5:75,814,743...75,844,228
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Slc6a4
solute carrier family 6 member 4
onset no_association severity
ISO IDA IMP
DNA:repeat:promoter (human) CTD Direct Evidence: marker/mechanism associated with Heart Septal Defects, Ventricular;DNA:polymorphisms (human) associated with Anoxia DNA:polymorphism, repeat:promoter, intron (human) associated with Pulmonary Disease, Chronic Obstructive;DNA:polymorphism (human)
CTD RGD
PMID:18506000 PMID:16339917 PMID:19886858 PMID:11259539 PMID:19736308 PMID:16399993 PMID:19556740 PMID:19736308 PMID:19473340 PMID:18074800 More...
RGD:4889442 , RGD:4889430 , RGD:4889445 , RGD:4889432 , RGD:4889440 , RGD:4889434 , RGD:4889432 , RGD:4889435 , RGD:4889437
NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
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Slc8a1
solute carrier family 8 member A1
ISO
protein:increased expression:pulmonary artery, smooth muscle cell
RGD
PMID:17192285
RGD:1642711
NCBI chr 6:13,194,609...13,547,369
Ensembl chr 6:13,194,662...13,535,628
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Smad1
SMAD family member 1
IEP IDA
protein:decreased phosphorylation:lung, vascular associated smooth muscle cell protein:decreased expression, increased phosphorylation:lung
RGD
PMID:17347486 PMID:18367643
RGD:1643222 , RGD:12903274
NCBI chr19:28,513,130...28,573,665
Ensembl chr19:28,513,131...28,573,651
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Smad4
SMAD family member 4
IEP
RGD
PMID:17347486 PMID:18367643
RGD:1643222 , RGD:12903274
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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Smad6
SMAD family member 6
IEP
mRNA:decreased expression:lung
RGD
PMID:17347486
RGD:1643222
NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763
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Smad7
SMAD family member 7
IEP
RGD
PMID:17347486
RGD:1643222
NCBI chr18:68,988,429...69,016,774
Ensembl chr18:68,988,429...69,016,765
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Smad9
SMAD family member 9
IEP
RGD
PMID:17347486
RGD:1643222
NCBI chr 2:138,956,326...139,006,315
Ensembl chr 2:138,986,471...139,006,307
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Smpd3
sphingomyelin phosphodiesterase 3
treatment
IMP
RGD
PMID:19088082
RGD:10042965
NCBI chr19:34,162,337...34,245,786
Ensembl chr19:34,162,341...34,245,749
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20110409
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Sox17
SRY-box transcription factor 17
IEP
protein:decreased expression:lung (rat)
RGD
PMID:36913491
RGD:329853317
NCBI chr 5:15,016,660...15,022,228
Ensembl chr 5:15,016,731...15,022,228
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Stat3
signal transducer and activator of transcription 3
severity
IDA
protein:increased phosphorylation:lung
RGD
PMID:38602915
RGD:407450417
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Tac1
tachykinin, precursor 1
IMP
RGD
PMID:12662901
RGD:5147638
NCBI chr 4:35,679,183...35,687,180
Ensembl chr 4:35,679,704...35,687,178
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Tacr1
tachykinin receptor 1
IMP
RGD
PMID:12662901
RGD:5147638
NCBI chr 4:114,920,844...115,089,733
Ensembl chr 4:114,920,844...115,089,733
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Tacr2
tachykinin receptor 2
IMP
RGD
PMID:12662901
RGD:5147638
NCBI chr20:30,208,907...30,223,446
Ensembl chr20:30,208,907...30,223,446
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Tek
TEK receptor tyrosine kinase
ISO
mRNA, protein:increased expression:lung
RGD
PMID:16917117
RGD:1601487
NCBI chr 5:109,607,077...109,733,805
Ensembl chr 5:109,607,077...109,733,804
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Tert
telomerase reverse transcriptase
treatment
IEP ISO
RGD
PMID:24376652 PMID:24376652
RGD:11038675 , RGD:11038675
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tgfa
transforming growth factor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18424623
NCBI chr 4:118,618,043...118,700,897
Ensembl chr 4:118,618,269...118,700,894
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Tgfb1
transforming growth factor, beta 1
onset
ISO
DNA:SNPs: :multiple (human) protein:increased expression:blood
RGD
PMID:18496036 PMID:19324949
RGD:4145273 , RGD:4145138
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tgfbr1
transforming growth factor, beta receptor 1
IMP
RGD
PMID:18202349
RGD:2302019
NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
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Tgfbr2
transforming growth factor, beta receptor 2
IEP
mRNA:decreased expression:lung
RGD
PMID:17392319
RGD:1601116
NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
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Thbd
thrombomodulin
ISO
associated with Mixed Connective Tissue Disease
RGD
PMID:16784493
RGD:1601639
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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Thpo
thrombopoietin
ISO
protein:increased expression:pulmonary artery, plasma
RGD
PMID:12487786
RGD:1580087
Ensembl chr11:80,182,820...80,188,167
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Tlr4
toll-like receptor 4
ISO
associated anoxia
RGD
PMID:20205596
RGD:4144108
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tnc
tenascin C
severity
ISO IDA IEP
protein:increased expression:plasma
RGD
PMID:20528622 PMID:16782755 PMID:15879421 PMID:19288153
RGD:4889562 , RGD:4889567 , RGD:4889570 , RGD:4889564
NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624
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Tnf
tumor necrosis factor
ISO
associated with pulmonary disease, chronic obstructive; protein:increased expression:serum CTD Direct Evidence: therapeutic associated with Pulmonary Edema; protein:increased expression:Bronchoalveolar Lavage Fluid
CTD RGD
PMID:2518282 PMID:16899829 PMID:9628235 PMID:12391106
RGD:4143280 , RGD:4142833 , RGD:4143422
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tp53
tumor protein p53
treatment
ISO
RGD
PMID:24334871
RGD:10043360
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Tp53bp1
tumor protein p53 binding protein 1
ISO
protein:increased expression:lung
RGD
PMID:24270264
RGD:9586752
NCBI chr 3:108,166,574...108,270,229
Ensembl chr 3:108,169,980...108,269,822
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Tph1
tryptophan hydroxylase 1
severity
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18506000 PMID:17675372
RGD:5686352
NCBI chr 1:97,157,375...97,178,415
Ensembl chr 1:97,157,409...97,178,344
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Tph2
tryptophan hydroxylase 2
severity
ISO
DNA:SNP: :1473C>G (mouse)
RGD
PMID:17675372
RGD:5686352
NCBI chr 7:50,685,694...50,789,424
Ensembl chr 7:50,685,694...50,789,424
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Trpc3
transient receptor potential cation channel, subfamily C, member 3
ISO
RGD
PMID:15358862
RGD:1580490
NCBI chr 2:119,481,313...119,619,333
Ensembl chr 2:119,481,400...119,558,855
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Trpc6
transient receptor potential cation channel, subfamily C, member 6
ISO
RGD
PMID:15358862
RGD:1580490
NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
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Trpv4
transient receptor potential cation channel, subfamily V, member 4
IEP
protein:increased expression:pulmonary artery
RGD
PMID:22962011
RGD:329813078
NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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Twist1
twist family bHLH transcription factor 1
treatment
IEP
RGD
PMID:25593290
RGD:38500244
NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
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Uts2
urotensin 2
IEP
RGD
PMID:15042392
RGD:2306848
NCBI chr 5:161,450,846...161,456,235
Ensembl chr 5:161,450,846...161,456,237
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Vcam1
vascular cell adhesion molecule 1
IEP
protein:increased expression:blood vessel endothelium
RGD
PMID:17934115
RGD:2298843
NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
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Vegfa
vascular endothelial growth factor A
ISO
associated with Hypoxia;protein:increased expression:pulmonary artery,smooth muscle tissue (mouse)
RGD
PMID:30172777
RGD:329955443
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Vegfb
vascular endothelial growth factor B
ISO
RGD
PMID:12547729
RGD:1625708
NCBI chr 1:204,172,297...204,178,046
Ensembl chr 1:204,172,225...204,177,944
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Vim
vimentin
IEP
protein:increased expression, increased phosphorylation:lung
RGD
PMID:25593290
RGD:38500244
NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
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Vip
vasoactive intestinal peptide
IDA
RGD
PMID:22140628
RGD:5685374
NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
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Vwf
von Willebrand factor
ISO
RGD
PMID:14507115
RGD:1580645
NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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G6pc3
glucose 6 phosphatase catalytic subunit 3
ISO
ClinVar Annotator: match by term: Dursun syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:87,146,987...87,151,223
Ensembl chr10:87,146,901...87,151,221
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Sars1
seryl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:196,065,543...196,081,240
Ensembl chr 2:196,065,430...196,081,277
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Sars2
seryl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME | ClinVar Annotator: match by term: Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis DNA:missense mutation:CDS:p.D390G (human)
OMIM ClinVar RGD
PMID:9536098 PMID:17576681 PMID:21255763 PMID:24034276 PMID:25741868 PMID:27279129 PMID:28492532 PMID:31607746 PMID:33751860 PMID:21255763 More...
RGD:41410777
NCBI chr 1:84,028,972...84,040,725
Ensembl chr 1:84,028,986...84,040,725
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Cps1
carbamoyl-phosphate synthase 1
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, neonatal, susceptibility to
ClinVar OMIM
PMID:8486760 PMID:9536098 PMID:9686343 PMID:9711878 PMID:11388595 PMID:11407344 PMID:11536261 PMID:12655559 PMID:12955727 PMID:14718356 PMID:15050969 PMID:15164414 PMID:15465784 PMID:15617192 PMID:15876373 PMID:16199547 PMID:16708072 PMID:16737834 PMID:17310273 PMID:17576681 PMID:19167850 PMID:19684305 PMID:19793055 PMID:20154341 PMID:20578160 PMID:20800523 PMID:21068339 PMID:21120950 PMID:21767969 PMID:22173106 PMID:22575620 PMID:23649895 PMID:24813853 PMID:24880889 PMID:25741868 PMID:26059772 PMID:26440671 PMID:27150549 PMID:27290639 PMID:27436290 PMID:28444906 PMID:28492532 PMID:28526534 PMID:28658158 PMID:30285816 PMID:31392117 PMID:31435610 PMID:31507628 PMID:31749211 PMID:32154057 PMID:32537019 PMID:32718099 PMID:32934962 PMID:33190319 PMID:33240318 PMID:33309754 PMID:33489762 PMID:33851512 PMID:33924653 PMID:34014557 PMID:34298581 PMID:34440436 PMID:34970092 PMID:36340787 More...
NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033
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6430548M08Rikl
RIKEN cDNA 6430548M08 gene like
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:48,168,651...48,216,571
Ensembl chr19:48,198,209...48,216,575
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Adad2
adenosine deaminase domain containing 2
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,665,288...47,669,433
Ensembl chr19:47,665,309...47,669,436
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Atp2c2
ATPase secretory pathway Ca2+ transporting 2
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,754,120...47,811,369
Ensembl chr19:47,754,120...47,811,368
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C19h16orf74
similar to human chromosome 16 open reading frame 74
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:48,660,288...48,686,287
Ensembl chr19:48,660,288...48,686,349
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C19h16orf95
similar to human chromosome 16 open reading frame 95
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:49,605,818...49,618,466
Ensembl chr19:49,605,818...49,618,702
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Cibar2
CBY1 interacting BAR domain containing 2
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:48,217,617...48,229,418
Ensembl chr19:48,215,486...48,229,404
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Cotl1
coactosin-like F-actin binding protein 1
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,871,689...47,906,010
Ensembl chr19:47,871,694...47,911,689
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Cox4i1
cytochrome c oxidase subunit 4i1
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:48,721,680...48,727,920
Ensembl chr19:48,721,199...48,727,921
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Cps1
carbamoyl-phosphate synthase 1
ISO
CACD, OMIM:265380, DNA:polymorphism:T1405N CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11407344 PMID:11407344
RGD:1600716
NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033
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Crispld2
cysteine-rich secretory protein LCCL domain containing 2
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:48,053,153...48,111,485
Ensembl chr19:48,053,287...48,110,465
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Dnaaf1
dynein, axonemal, assembly factor 1
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,624,534...47,652,314
Ensembl chr19:47,624,181...47,652,313
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Emc8
ER membrane protein complex subunit 8
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:48,708,304...48,721,626
Ensembl chr19:48,582,574...48,721,543
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Fbxo31
F-box protein 31
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:49,624,813...49,656,052
Ensembl chr19:49,627,686...49,656,010
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Fendrr
FOXF1 adjacent non-coding developmental regulatory RNA
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
PMID:25741868
NCBI chr19:49,127,225...49,152,780
Ensembl chr19:49,121,214...49,153,240
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Foxc2
forkhead box C2
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:49,186,034...49,188,736
Ensembl chr19:49,185,662...49,188,737
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Foxf1
forkhead box F1
ISO ISS
ClinVar Annotator: match by term: ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS AND OTHER CONGENITAL ANOMALIES | ClinVar Annotator: match by term: Alveolar capillary dysplasia with misalignment of pulmonary veins | ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia OMIM:265380 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:15520767 PMID:19500772 PMID:23505205 PMID:24033266 PMID:25741868 PMID:27071622 PMID:27439648 PMID:27855150 PMID:28469849 PMID:28492532 PMID:30380203 PMID:36474027 More...
NCBI chr19:49,153,949...49,157,741
Ensembl chr19:49,153,699...49,157,738
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Foxl1
forkhead box L1
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:49,197,269...49,200,682
Ensembl chr19:49,197,400...49,198,425
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Gins2
GINS complex subunit 2
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:48,626,770...48,639,523
Ensembl chr19:48,626,770...48,639,339
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Gse1
Gse1 coiled-coil protein
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:48,274,164...48,629,456
Ensembl chr19:48,274,127...48,629,458
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Hsdl1
hydroxysteroid dehydrogenase like 1
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,615,794...47,631,892
Ensembl chr19:47,615,796...47,631,846
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Irf8
interferon regulatory factor 8
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829
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Itgam
integrin subunit alpha M
ISO
DNA:missense mutation:CDS:p.E1071D (human)
RGD
PMID:32054482
RGD:329853760
NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503
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Jph3
junctophilin 3
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:49,793,967...49,855,338
Ensembl chr19:49,793,092...49,855,338
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Kcng4
potassium voltage-gated channel modifier subfamily G member 4
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,677,307...47,689,410
Ensembl chr19:47,677,327...47,689,268
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Klhl36
kelch-like family member 36
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,921,590...47,942,627
Ensembl chr19:47,921,590...47,942,620
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Map1lc3b
microtubule-associated protein 1 light chain 3 beta
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:49,665,795...49,673,655
Ensembl chr19:49,665,791...49,677,690
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Mbtps1
membrane-bound transcription factor peptidase, site 1
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,561,598...47,612,769
Ensembl chr19:47,561,598...47,612,791
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Meak7
MTOR associated protein, eak-7 homolog
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,813,899...47,836,830
Ensembl chr19:47,811,416...47,841,278
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Mlycd
malonyl-CoA decarboxylase
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,447,931...47,463,794
Ensembl chr19:47,447,970...47,463,793
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Mthfsd
methenyltetrahydrofolate synthetase domain containing
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:49,164,266...49,178,233
Ensembl chr19:49,167,183...49,178,232
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Necab2
N-terminal EF-hand calcium binding protein 2
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,501,351...47,527,722
Ensembl chr19:47,501,302...47,527,684
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Nos3
nitric oxide synthase 3
ISS
OMIM:265380
MouseDO
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Osgin1
oxidative stress induced growth inhibitor 1
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,471,750...47,500,517
Ensembl chr19:47,492,171...47,500,516
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Pten
phosphatase and tensin homolog
ISS
OMIM:265380
MouseDO
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Slc38a8
solute carrier family 38, member 8
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,522,781...47,561,443
Ensembl chr19:47,525,301...47,554,726
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Stra6
signaling receptor and transporter of retinol STRA6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17273977
NCBI chr 8:58,548,899...58,568,861
Ensembl chr 8:58,549,736...58,568,860
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Taf1c
TATA-box binding protein associated factor, RNA polymerase 1 subunit C
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,652,451...47,658,971
Ensembl chr19:47,652,452...47,658,971
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Usp10
ubiquitin specific peptidase 10
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,972,858...48,014,900
Ensembl chr19:47,972,611...48,014,897
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Wfdc1
WAP four-disulfide core domain 1
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,720,191...47,739,121
Ensembl chr19:47,720,423...47,739,108
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Zcchc14
zinc finger CCHC-type containing 14
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:49,674,185...49,718,004
Ensembl chr19:49,674,195...49,718,029
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Zdhhc7
zinc finger DHHC-type palmitoyltransferase 7
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:48,139,309...48,156,673
Ensembl chr19:48,139,527...48,156,673
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Abi2
abl-interactor 2
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:61,827,186...61,905,703
Ensembl chr 9:61,827,139...61,905,699
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Acadl
acyl-CoA dehydrogenase, long chain
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:68,333,981...68,372,149
Ensembl chr 9:68,333,980...68,372,220
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Acvrl1
activin A receptor like type 1
ISO
ClinVar Annotator: match by term: Heritable pulmonary arterial hypertension
ClinVar
PMID:25741868 PMID:28492532 PMID:31727138
NCBI chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591
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Adam23
ADAM metallopeptidase domain 23
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:64,862,649...65,009,718
Ensembl chr 9:64,862,878...65,006,515
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Adora2a
adenosine A2a receptor
ISS
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
MouseDO
NCBI chr20:13,315,848...13,333,386
Ensembl chr20:13,315,853...13,333,386
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Als2
alsin Rho guanine nucleotide exchange factor ALS2
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074
NCBI chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737
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Bmpr1b
bone morphogenetic protein receptor type 1B
ISO
ClinVar Annotator: match by term: Idiopathic pulmonary arterial hypertension
ClinVar
PMID:22374147 PMID:25741868 PMID:25758993 PMID:28492532
NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368
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Bmpr2
bone morphogenetic protein receptor type 2
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Idiopathic and/or familial pulmonary arterial hypertension | ClinVar Annotator: match by term: Primary pulmonary hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, dexfenfluramine-associated OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
CTD ClinVar MouseDO
PMID:3291115 PMID:9536098 PMID:10903931 PMID:10973254 PMID:11015450 PMID:11115378 PMID:11502704 PMID:11536076 PMID:12045205 PMID:12139571 PMID:12358323 PMID:12417513 PMID:12821254 PMID:14985116 PMID:15059534 PMID:15146475 PMID:15358693 PMID:15591269 PMID:15775752 PMID:15965979 PMID:16199547 PMID:16429395 PMID:16429403 PMID:16717148 PMID:16728714 PMID:17515463 PMID:17576681 PMID:18159113 PMID:18321866 PMID:18356561 PMID:18503968 PMID:19206171 PMID:19223935 PMID:19324947 PMID:19555857 PMID:19844076 PMID:20002458 PMID:20096498 PMID:20534176 PMID:21070126 PMID:21228398 PMID:21737554 PMID:21801371 PMID:21920918 PMID:22632830 PMID:22995991 PMID:23298310 PMID:23579436 PMID:23592887 PMID:23675998 PMID:24033266 PMID:24853021 PMID:24936649 PMID:25187962 PMID:25429696 PMID:25460361 PMID:25612240 PMID:25640679 PMID:25688877 PMID:25741868 PMID:25917481 PMID:26387786 PMID:26645265 PMID:26699722 PMID:26820968 PMID:27453251 PMID:27630060 PMID:27811071 PMID:27816994 PMID:27884767 PMID:28388887 PMID:28480048 PMID:28492532 PMID:28507310 PMID:29631995 PMID:29650961 PMID:29743074 PMID:29843651 PMID:30029678 PMID:30578397 PMID:30679663 PMID:30809644 PMID:30957726 PMID:31727138 PMID:31797984 PMID:32368696 PMID:32581362 PMID:33066286 PMID:34400635 PMID:36675162 More...
NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
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Carf
calcium responsive transcription factor
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:61,502,368...61,552,433
Ensembl chr 9:61,506,956...61,550,462
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Cav1
caveolin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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Ccnyl1
cyclin Y-like 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:66,071,721...66,121,742
Ensembl chr 9:66,071,543...66,107,999
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Cd28
Cd28 molecule
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
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Cdk15
cyclin-dependent kinase 15
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074
NCBI chr 9:60,710,787...60,803,638
Ensembl chr 9:60,711,715...60,802,777
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Cmklr2
chemerin chemokine-like receptor 2
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:64,583,310...64,617,883
Ensembl chr 9:64,585,594...64,586,655
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Cpo
carboxypeptidase O
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:65,319,996...65,338,250
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Cps1
carbamoyl-phosphate synthase 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033
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Creb1
cAMP responsive element binding protein 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816
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Cryga
crystallin, gamma A
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:66,482,176...66,484,638
Ensembl chr 9:66,482,176...66,509,896
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Crygb
crystallin, gamma B
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:66,461,460...66,463,520
Ensembl chr 9:66,461,460...66,463,520
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Crygc
crystallin, gamma C
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:66,451,591...66,453,626
Ensembl chr 9:66,451,593...66,453,626
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Crygd
crystallin, gamma D
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:66,442,057...66,443,668
Ensembl chr 9:66,442,054...66,444,067
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Cyp20a1
cytochrome P450, family 20, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:61,755,804...61,805,123
Ensembl chr 9:61,755,790...61,805,123
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Dytn
dystrotelin
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:65,037,378...65,098,549
Ensembl chr 9:65,037,493...65,098,549
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Eef1b2
eukaryotic translation elongation factor 1 beta 2
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:64,580,163...64,582,737
Ensembl chr 9:64,579,893...64,582,737
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Fam117b
family with sequence similarity 117, member B
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:61,340,284...61,418,531
Ensembl chr 9:61,340,249...61,408,483
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Fastkd2
FAST kinase domains 2
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:65,166,148...65,188,184
Ensembl chr 9:65,168,228...65,188,174
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Fbxo32
F-box protein 32
ISO
mRNA:increased expression:vastus lateralis
RGD
PMID:23972212
RGD:329812002
NCBI chr 7:89,731,428...89,764,997
Ensembl chr 7:89,730,232...89,765,436
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Fgfr2
fibroblast growth factor receptor 2
ISO
protein:increased expression:lung (human)
RGD
PMID:29722558
RGD:155791445
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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Foxf1
forkhead box F1
ISO
ClinVar Annotator: match by term: Idiopathic and/or familial pulmonary arterial 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 More...
NCBI chr19:49,153,949...49,157,741
Ensembl chr19:49,153,699...49,157,738
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Fzd5
frizzled class receptor 5
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:66,113,096...66,120,276
Ensembl chr 9:66,113,112...66,121,457
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Fzd7
frizzled class receptor 7
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074
NCBI chr 9:60,931,433...60,934,252
Ensembl chr 9:60,930,875...60,935,781
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Hdac1
histone deacetylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22711276
NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111
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Hdac4
histone deacetylase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22711276
NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
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Hdac5
histone deacetylase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22711276
NCBI chr10:87,152,978...87,187,921
Ensembl chr10:87,152,978...87,188,235
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Ica1l
islet cell autoantigen 1-like
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:61,410,959...61,469,884
Ensembl chr 9:61,412,091...61,470,134
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Icos
inducible T-cell co-stimulator
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672
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Id1
inhibitor of DNA binding 1
ISO
protein:decreased expression:lung, wall of arteriole (human)
RGD
PMID:20522807
RGD:9686087
NCBI chr 3:141,210,666...141,212,420
Ensembl chr 3:141,211,267...141,212,419
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Idh1
isocitrate dehydrogenase (NADP(+)) 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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Ino80d
INO80 complex subunit D
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:64,447,075...64,514,013
Ensembl chr 9:64,457,165...64,515,242
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Kansl1l
KAT8 regulatory NSL complex subunit 1-like
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:68,211,151...68,316,992
Ensembl chr 9:68,211,189...68,300,222
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Kcnk3
potassium two pore domain channel subfamily K member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 6:25,761,487...25,799,153
Ensembl chr 6:25,763,228...25,799,153
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Klf7
KLF transcription factor 7
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:65,433,683...65,526,372
Ensembl chr 9:65,437,167...65,526,261
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Lancl1
LanC like glutathione S-transferase 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:68,515,052...68,548,646
Ensembl chr 9:68,518,574...68,548,628
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Map2
microtubule-associated protein 2
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:67,723,422...67,981,886
Ensembl chr 9:67,723,371...67,979,809
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Mdh1b
malate dehydrogenase 1B
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:65,120,370...65,168,008
Ensembl chr 9:65,119,029...65,167,933
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Mettl21a
methyltransferase 21A, HSPA lysine
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:65,934,253...65,999,964
Ensembl chr 9:65,978,051...65,987,550
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Mfn1
mitofusin 1
ISO
protein:decreased expression:vastus lateralis
RGD
PMID:23972212
RGD:329812002
NCBI chr 2:115,313,380...115,359,651
Ensembl chr 2:115,313,401...115,359,640
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Mfn2
mitofusin 2
ISO
protein:decreased expression:vastus lateralis
RGD
PMID:23972212
RGD:329812002
NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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Mir23a
microRNA 23a
ISO
RNA:increased expression:serum
RGD
PMID:25815108
RGD:155882560
NCBI chr19:23,954,997...23,955,071
Ensembl chr19:23,954,997...23,955,071
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Myl1
myosin, light chain 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:68,437,514...68,458,256
Ensembl chr 9:68,437,517...68,458,261
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Nbeal1
neurobeachin-like 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:61,575,154...61,743,896
Ensembl chr 9:61,575,356...61,736,750
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Ndufs1
NADH:ubiquinone oxidoreductase core subunit S1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:64,546,430...64,579,751
Ensembl chr 9:64,546,225...64,579,893
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Nop58
NOP58 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074
NCBI chr 9:61,120,939...61,144,810
Ensembl chr 9:61,120,929...61,144,810
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Nrp2
neuropilin 2
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:64,122,815...64,238,007
Ensembl chr 9:64,123,132...64,237,958
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Pard3b
par-3 family cell polarity regulator beta
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:63,038,435...64,067,178
Ensembl chr 9:63,038,436...64,068,053
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Pikfyve
phosphoinositide kinase, FYVE-type zinc finger containing
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:66,563,747...66,657,873
Ensembl chr 9:66,563,727...66,657,868
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Plekhm3
pleckstrin homology domain containing M3
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:66,166,233...66,325,332
Ensembl chr 9:66,166,321...66,325,294
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Pparg
peroxisome proliferator-activated receptor gamma
ISS
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
MouseDO
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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Ptgis
prostaglandin I2 synthase
ISO
DNA:SNP, missense mutations:intron 4, CDS:c.521+1G>A, p.R252Q (c.755G>A), p.A447T (c.1339G>A) (, rs759344518, rs146531327) (human)
RGD
PMID:32236489
RGD:401901150
NCBI chr 3:155,928,564...155,964,228
Ensembl chr 3:155,916,412...155,965,451
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Pth2r
parathyroid hormone 2 receptor
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:66,706,050...66,810,601
Ensembl chr 9:66,706,050...66,810,036
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Raph1
Ras association (RalGDS/AF-6) and pleckstrin homology domains 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:61,907,476...61,990,170
Ensembl chr 9:61,907,758...61,961,209
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Rfc1
replication factor C subunit 1
ISO
mRNA:increased expression:lung (human)
RGD
PMID:37410515
RGD:401940160
NCBI chr14:42,966,279...43,041,372
Ensembl chr14:42,966,324...43,041,370
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Rpe
ribulose-5-phosphate-3-epimerase
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:68,191,027...68,211,295
Ensembl chr 9:68,191,292...68,211,591
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Ryr1
ryanodine receptor 1
ISO
protein:increased phosphorylation:vastus lateralis
RGD
PMID:23972212
RGD:329812002
NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
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Smad9
SMAD family member 9
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
CTD MouseDO
NCBI chr 2:138,956,326...139,006,315
Ensembl chr 2:138,986,471...139,006,307
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Sox17
SRY-box transcription factor 17
ISO
protein:decreased expression:pulmonary artery (human)
RGD
PMID:36919784
RGD:329853737
NCBI chr 5:15,016,660...15,022,228
Ensembl chr 5:15,016,731...15,022,228
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Sumo1
small ubiquitin-like modifier 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074
NCBI chr 9:61,078,790...61,108,697
Ensembl chr 9:61,077,435...61,108,761
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Tnfsf4
TNF superfamily member 4
ISS
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
MouseDO
NCBI chr13:73,723,329...73,746,809
Ensembl chr13:73,723,329...73,746,788
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Trim63
tripartite motif containing 63
ISO
mRNA, protein:increased expression:vastus lateralis
RGD
PMID:23972212
RGD:329812002
NCBI chr 5:146,533,492...146,547,332
Ensembl chr 5:146,533,507...146,547,322
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Unc80
unc-80 homolog, NALCN channel complex subunit
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:68,011,940...68,190,135
Ensembl chr 9:68,011,728...68,187,659
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Vip
vasoactive intestinal peptide
ISS
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
MouseDO
NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
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Wdr12
WD repeat domain 12
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:61,475,498...61,502,762
Ensembl chr 9:61,475,517...61,502,469
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Zdbf2
zinc finger, DBF-type containing 2
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:64,672,974...64,748,446
Ensembl chr 9:64,709,880...64,744,265
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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:16690726 PMID:16705692 PMID:17384219 PMID:18159113 PMID:18495117 PMID:18498373 PMID:19555857 PMID:20414677 PMID:20501893 PMID:21158752 PMID:22632830 PMID:23298310 PMID:23535011 PMID:23722869 PMID:24753439 PMID:25557927 PMID:25741868 PMID:26387786 PMID:27316748 PMID:28492532 PMID:28918311 PMID:29449337 PMID:29515340 PMID:31400083 PMID:31727138 PMID:32300199 PMID:32503579 PMID:32581362 PMID:34872578 More...
NCBI chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591
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Bmpr2
bone morphogenetic protein receptor type 2
ISO
ClinVar Annotator: match by term: BMPR2-related disorder | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia
OMIM ClinVar
PMID:3291115 PMID:9536098 PMID:10903931 PMID:10973254 PMID:11015450 PMID:11115378 PMID:11502704 PMID:11536076 PMID:12045205 PMID:12139571 PMID:12358323 PMID:12417513 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:16199547 PMID:16429395 PMID:16429403 PMID:16717148 PMID:16728714 PMID:17515463 PMID:17576681 PMID:18159113 PMID:18221724 PMID:18321866 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:25187962 PMID:25429696 PMID:25612240 PMID:25640679 PMID:25688877 PMID:25741868 PMID:25917481 PMID:26387786 PMID:26645265 PMID:26699722 PMID:27002414 PMID:27453251 PMID:27630060 PMID:27811071 PMID:27816994 PMID:27884767 PMID:28388887 PMID:28391780 PMID:28492532 PMID:28507310 PMID:29631995 PMID:29650961 PMID:29743074 PMID:29843651 PMID:30029678 PMID:30578397 PMID:30679663 PMID:30809644 PMID:31727138 PMID:31797984 PMID:32581362 PMID:33066286 PMID:33380512 PMID:34400635 PMID:36675162 More...
NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
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Eng
endoglin
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:16690726 PMID:16754821 PMID:18498373 PMID:23298310 PMID:24033266 PMID:25741868 PMID:26167679 PMID:26387786 PMID:28492532 PMID:30029678 PMID:30665703 PMID:31019283 More...
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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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:25741868 PMID:28492532 More...
NCBI chr 4:159,354,689...159,358,173
Ensembl chr 4:159,350,097...159,357,697
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Kcnk3
potassium two pore domain channel subfamily K member 3
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23883380
NCBI chr 6:25,761,487...25,799,153
Ensembl chr 6:25,763,228...25,799,153
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Nop58
NOP58 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23579436
NCBI chr 9:61,120,939...61,144,810
Ensembl chr 9:61,120,929...61,144,810
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Pah
phenylalanine hydroxylase
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:1301187 PMID:1682234 PMID:1769645 PMID:2044609 PMID:2574153 PMID:8116675 PMID:8304187 PMID:8533759 PMID:8831077 PMID:9634518 PMID:10234516 PMID:10598814 PMID:10693064 PMID:11180595 PMID:11385716 PMID:11461196 PMID:11524738 PMID:11588399 PMID:12409276 PMID:12649065 PMID:12655546 PMID:12655553 PMID:12765842 PMID:15503242 PMID:16601866 PMID:16755493 PMID:16879198 PMID:17096675 PMID:17924342 PMID:17935162 PMID:18294361 PMID:18299955 PMID:19062537 PMID:19394257 PMID:20082265 PMID:20920871 PMID:21147011 PMID:22513348 PMID:22841515 PMID:23074961 PMID:23357515 PMID:23500595 PMID:23792259 PMID:24048906 PMID:24301756 PMID:24350308 PMID:24401910 PMID:25525159 PMID:25596310 PMID:25741868 PMID:26351554 PMID:26467025 PMID:26503515 PMID:26666653 PMID:26982749 PMID:28492532 PMID:28982351 PMID:29499199 PMID:29997390 PMID:30050108 PMID:30067850 PMID:30311390 PMID:31355225 PMID:31623983 PMID:32668217 PMID:33677757 More...
NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130
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Smad1
SMAD family member 1
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:21898662
NCBI chr19:28,513,130...28,573,665
Ensembl chr19:28,513,131...28,573,651
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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:28492532 PMID:31515488 More...
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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Smad9
SMAD family member 9
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:25741868
NCBI chr 2:138,956,326...139,006,315
Ensembl chr 2:138,986,471...139,006,307
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Snord11
small nucleolar RNA, C/D box 11
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23579436
NCBI chr 9:61,137,715...61,137,798
Ensembl chr 9:61,137,715...61,137,798
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Snord11b
small nucleolar RNA, C/D box 11B
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23579436
NCBI chr 9:61,137,168...61,137,247
Ensembl chr 9:61,137,168...61,137,247
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Snord70
small nucleolar RNA, C/D box 70
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23579436
NCBI chr 9:61,125,974...61,126,060
Ensembl chr 9:61,125,974...61,126,060
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Snord70b
small nucleolar RNA, C/D box 70B
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23579436
NCBI chr 9:61,126,745...61,126,828
Ensembl chr 9:61,126,745...61,126,828
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Tbx4
T-box transcription factor 4
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:9536098 PMID:15106123 PMID:16199547 PMID:17576681 PMID:23592887 PMID:25741868 PMID:27587546 PMID:28492532 PMID:29120062 PMID:29631995 PMID:29650961 PMID:30029678 PMID:30578397 PMID:31151956 PMID:31727138 PMID:31761294 PMID:31965066 PMID:32079640 PMID:32348326 PMID:32581362 PMID:32860008 PMID:33066286 PMID:33971972 PMID:34557690 More...
NCBI chr10:70,730,686...70,760,829
Ensembl chr10:70,731,163...70,760,825
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Smad9
SMAD family member 9
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 2
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19211612 PMID:19419974 PMID:21898662 PMID:21920918 PMID:24033266 PMID:25741868 PMID:28166811 PMID:28492532 PMID:29631995 PMID:29650961 PMID:30029678 PMID:31727138 More...
NCBI chr 2:138,956,326...139,006,315
Ensembl chr 2:138,986,471...139,006,307
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Bmpr1b
bone morphogenetic protein receptor type 1B
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 3
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368
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Cav1
caveolin 1
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 3
OMIM ClinVar
PMID:22474227 PMID:25741868 PMID:28492532 PMID:29231014 PMID:31727138
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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Kcnk3
potassium two pore domain channel subfamily K member 3
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 4
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:23883380 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28889099 PMID:29650961 PMID:29743074 PMID:30578397 More...
NCBI chr 6:25,761,487...25,799,153
Ensembl chr 6:25,763,228...25,799,153
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Atp13a3
ATPase 13A3
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, autosomal recessive
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30679663 PMID:31727138 PMID:34493544 PMID:35204766 More...
NCBI chr11:70,364,998...70,442,005
Ensembl chr11:70,365,322...70,441,235
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Capns1
calpain, small subunit 1
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 6
ClinVar OMIM
PMID:21972389 PMID:38230350
NCBI chr 1:85,444,613...85,454,861
Ensembl chr 1:85,444,608...85,454,795
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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:23625987 PMID:24033266 PMID:24136335 PMID:24871971 PMID:25073622 PMID:25553246 PMID:25741868 PMID:27374344 PMID:27516224 PMID:28034695 PMID:28492532 PMID:29431110 PMID:29505158 PMID:29566461 PMID:30609409 PMID:30755392 PMID:31589614 PMID:31980526 PMID:32238781 PMID:32692933 PMID:33110422 PMID:33526094 PMID:34132118 PMID:34715861 PMID:35170262 PMID:35626240 More...
NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745
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Abcc8
ATP binding cassette subfamily C member 8
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25117148 PMID:25741868
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
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Abi2
abl-interactor 2
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:61,827,186...61,905,703
Ensembl chr 9:61,827,139...61,905,699
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Acvrl1
activin A receptor like type 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:11484689 PMID:15024723 PMID:15517393 PMID:15687131 PMID:16429404 PMID:16470787 PMID:16540754 PMID:16752392 PMID:17384219 PMID:17786384 PMID:18159113 PMID:18495117 PMID:18498373 PMID:18673552 PMID:19767588 PMID:20056902 PMID:20501893 PMID:21378382 PMID:22632830 PMID:23124896 PMID:23298310 PMID:23919827 PMID:24033266 PMID:24753439 PMID:25741868 PMID:25970827 PMID:26387786 PMID:27316748 PMID:27587546 PMID:28492532 PMID:29449337 PMID:29650961 PMID:29743074 PMID:30260738 PMID:30303062 PMID:30578383 PMID:31019026 PMID:32300199 PMID:32503579 PMID:32581362 PMID:32899377 More...
NCBI chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591
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Ahr
aryl hydrocarbon receptor
severity
ISO
CTD Direct Evidence: marker/mechanism protein:increased activity:serum (human)
CTD RGD
PMID:33836606 PMID:33836606
RGD:401940192
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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Ahsp
alpha hemoglobin stabilizing protein
ISO
mRNA:altered expression: (human)
RGD
PMID:35710932
RGD:329961295
NCBI chr 1:182,879,901...182,885,508
Ensembl chr 1:182,880,076...182,885,506
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Als2
alsin Rho guanine nucleotide exchange factor ALS2
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737
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Aox1
aldehyde oxidase 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:59,579,621...59,658,772
Ensembl chr 9:59,579,649...59,658,770
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Apln
apelin
treatment
ISO
RGD
PMID:23867624
RGD:329848996
NCBI chr X:127,180,801...127,213,567
Ensembl chr X:127,203,823...127,213,391
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Atp13a3
ATPase 13A3
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25741868 PMID:28492532 PMID:30679663 PMID:31727138 PMID:34493544 PMID:35204766 More...
NCBI chr11:70,364,998...70,442,005
Ensembl chr11:70,365,322...70,441,235
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Axin2
axin 2
exacerbates
IMP
RGD
PMID:28694128
RGD:151356920
NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231
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Bmp7
bone morphogenetic protein 7
IEP
protein:increased expression:lung, pulmonary artery (rat)
RGD
PMID:31542483
RGD:155888480
NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788
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Bmpr1a
bone morphogenetic protein receptor type 1A
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease
ClinVar
PMID:24121792 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30029678 PMID:31727138 More...
NCBI chr16:9,736,390...9,829,825
Ensembl chr16:9,736,630...9,780,616
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Bmpr1b
bone morphogenetic protein receptor type 1B
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease
ClinVar
PMID:25741868 PMID:30029678
NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368
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Bmpr2
bone morphogenetic protein receptor type 2
treatment
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 RGD
PMID:3291115 PMID:10903931 PMID:10973254 PMID:11015450 PMID:11115378 PMID:11502704 PMID:11536076 PMID:12045205 PMID:12358323 PMID:12417513 PMID:12821254 PMID:14985116 PMID:15059534 PMID:15146475 PMID:15358693 PMID:15591269 PMID:15687131 PMID:15965979 PMID:16199547 PMID:16429395 PMID:16717148 PMID:17515463 PMID:18159113 PMID:18321866 PMID:18356561 PMID:18503968 PMID:19223935 PMID:19324947 PMID:19555857 PMID:20002458 PMID:20095988 PMID:20096498 PMID:20496075 PMID:20534176 PMID:21070126 PMID:21737554 PMID:21801371 PMID:22632830 PMID:23298310 PMID:23579436 PMID:23592887 PMID:23675998 PMID:24033266 PMID:24591673 PMID:25187962 PMID:25326637 PMID:25429696 PMID:25612240 PMID:25688877 PMID:25741868 PMID:25917481 PMID:26387786 PMID:26645265 PMID:27811071 PMID:27816994 PMID:27884767 PMID:28388887 PMID:28415675 PMID:28480048 PMID:28492532 PMID:29631995 PMID:29650961 PMID:29743074 PMID:29843651 PMID:30029678 PMID:30578397 PMID:30809644 PMID:31727138 PMID:31797984 PMID:32581362 PMID:34400635 PMID:36675162 PMID:23867624 More...
RGD:329848996
NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
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Bzw1
basic leucine zipper and W2 domains 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:59,930,672...59,944,468
Ensembl chr 9:59,930,744...59,944,430
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C2cd6
C2 calcium dependent domain containing 6
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:60,434,926...60,530,842
Ensembl chr 9:60,434,925...60,530,806
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Carf
calcium responsive transcription factor
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:61,502,368...61,552,433
Ensembl chr 9:61,506,956...61,550,462
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Casp8
caspase 8
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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Cav1
caveolin 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease
ClinVar
PMID:25741868 PMID:30029678
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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Cd28
Cd28 molecule
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
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Cdh2
cadherin 2
ISO
mRNA:increased expression:lung
RGD
PMID:25593290
RGD:38500244
NCBI chr18:7,776,704...7,990,934
Ensembl chr18:7,776,704...7,990,167
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Cdk15
cyclin-dependent kinase 15
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:60,710,787...60,803,638
Ensembl chr 9:60,711,715...60,802,777
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Cflar
CASP8 and FADD-like apoptosis regulator
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034
G
Clk1
CDC-like kinase 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:59,947,774...59,959,002
Ensembl chr 9:59,947,764...59,957,000
G
Cp
ceruloplasmin
ISO
associated with systemic scleroderma;protein:increased expression:serum
RGD
PMID:32630589
RGD:401827129
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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Creb1
cAMP responsive element binding protein 1
treatment
IDA
RGD
PMID:33760143
RGD:401960860
NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Ctnnd1
catenin delta 1
ISO
protein:decreased expression:lung
RGD
PMID:25593290
RGD:38500244
NCBI chr 3:69,683,328...69,734,550
Ensembl chr 3:69,683,313...69,734,516
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Cyp20a1
cytochrome P450, family 20, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:61,755,804...61,805,123
Ensembl chr 9:61,755,790...61,805,123
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Ddah1
dimethylarginine dimethylaminohydrolase 1
exacerbates
IMP
compared to wild type
RGD
PMID:31402164
RGD:151347602
NCBI chr 2:234,667,499...234,800,322
Ensembl chr 2:234,667,491...234,799,339
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Ddah1em1Ywxu
dimethylarginine dimethylaminohydrolase 1; CRISPR/Cas9 induced mutant 1, Ywxu
exacerbates
IMP
compared to wild type
RGD
PMID:31402164
RGD:151347602
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Eif2ak4
eukaryotic translation initiation factor 2 alpha kinase 4
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25741868 PMID:28492532 PMID:32581362
NCBI chr 3:105,356,261...105,441,630
Ensembl chr 3:105,356,261...105,441,630
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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:15517393 PMID:15521985 PMID:15879500 PMID:16705692 PMID:17384219 PMID:17786384 PMID:18498373 PMID:19270816 PMID:21158752 PMID:22991266 PMID:23298310 PMID:23722869 PMID:24033266 PMID:25741868 PMID:25970827 PMID:26167679 PMID:28492532 PMID:29650961 PMID:30029678 PMID:31727138 PMID:32503579 PMID:32514857 PMID:32573726 PMID:32581362 PMID:32933640 PMID:33919892 PMID:34872578 More...
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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Fam117b
family with sequence similarity 117, member B
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:61,340,284...61,418,531
Ensembl chr 9:61,340,249...61,408,483
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Fhit
fragile histidine triad diadenosine triphosphatase
ISO
RGD
PMID:30107138
RGD:329349307
NCBI chr15:13,935,029...15,442,620
Ensembl chr15:13,934,995...15,442,340
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Flacc1
flagellum associated containing coiled-coil domains 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:60,315,581...60,343,692
Ensembl chr 9:60,315,582...60,343,648
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Fto
FTO, alpha-ketoglutarate dependent dioxygenase
IEP
protein:decreased expression:lung
RGD
PMID:34310344
RGD:329845886
NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
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Fzd7
frizzled class receptor 7
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:60,931,433...60,934,252
Ensembl chr 9:60,930,875...60,935,781
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Gdf2
growth differentiation factor 2
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25741868 PMID:26801773 PMID:28492532 PMID:31661308 PMID:31727138
NCBI chr16:9,255,430...9,261,429
Ensembl chr16:9,255,430...9,261,429
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Gjb2
gap junction protein, beta 2
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:17666888 PMID:25741868 PMID:30755392
NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
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Gpx3
glutathione peroxidase 3
ISO
associated with systemic scleroderma;protein:decreased expression:serum
RGD
PMID:32630589
RGD:401827129
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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H19
H19 imprinted maternally expressed transcript
ameliorates treatment
ISO IEP
RGD
PMID:30547791 PMID:30240970
RGD:155882573 , RGD:156430315
NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
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Htr1b
5-hydroxytryptamine receptor 1B
ISO
protein:increased expression:endothelium, smooth muscle, pulmonary artery
RGD
PMID:28473438
RGD:329955562
NCBI chr 8:82,513,572...82,534,670
Ensembl chr 8:82,517,360...82,534,549
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Hycc2
hyccin PI4KA lipid kinase complex subunit 2
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:60,056,883...60,129,176
Ensembl chr 9:60,056,890...60,093,007
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Hydin
Hydin, axonemal central pair apparatus protein
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25741868
NCBI chr19:38,236,996...38,583,271
Ensembl chr19:38,236,464...38,583,264
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Ica1l
islet cell autoantigen 1-like
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:61,410,959...61,469,884
Ensembl chr 9:61,412,091...61,470,134
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Icos
inducible T-cell co-stimulator
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672
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Ifng
interferon gamma
treatment
IEP
RGD
PMID:23867624
RGD:329848996
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Igf1r
insulin-like growth factor 1 receptor
treatment
IEP
RGD
PMID:30240970
RGD:156430315
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
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Il2
interleukin 2
treatment
IEP
RGD
PMID:23867624
RGD:329848996
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Impa1
inositol monophosphatase 1
ISO
RGD
PMID:30604625
RGD:126781711
NCBI chr 2:91,462,781...91,484,057
Ensembl chr 2:91,462,799...91,484,313
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Itga5
integrin subunit alpha 5
ISO
mRNA:increased expression:lung
RGD
PMID:25593290
RGD:38500244
NCBI chr 7:134,478,963...134,502,837
Ensembl chr 7:134,478,968...134,502,837
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Kcna5
potassium voltage-gated channel subfamily A member 5
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:23861362 PMID:25741868 PMID:28492532
NCBI chr 4:159,354,689...159,358,173
Ensembl chr 4:159,350,097...159,357,697
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Kcnk3
potassium two pore domain channel subfamily K member 3
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 6:25,761,487...25,799,153
Ensembl chr 6:25,763,228...25,799,153
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Kcnn4
potassium calcium-activated channel subfamily N member 4
ameliorates
IMP
RGD
PMID:28679649
RGD:329955564
NCBI chr 1:79,956,380...79,974,354
Ensembl chr 1:79,959,322...79,974,340
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Kctd18
potassium channel tetramerization domain containing 18
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:59,502,220...59,566,857
Ensembl chr 9:59,502,232...59,566,857
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Map3k7
mitogen activated protein kinase kinase kinase 7
treatment
IEP
RGD
PMID:35582418
RGD:155804297
NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597
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Mir140
microRNA 140
severity
ISO
miRNA:decreased expression:blood (human)
RGD
PMID:27214554
RGD:329337371
NCBI chr19:35,465,577...35,465,675
Ensembl chr19:35,465,577...35,465,675
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Mir143
microRNA 143
ameliorates
ISO
RNA:increased expression:pulmonary smooth muscle cell:
RGD
PMID:26311719 PMID:26311719
RGD:11537224 , RGD:11537224
NCBI chr18:55,101,006...55,101,110
Ensembl chr18:55,101,006...55,101,110
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Mir17
microRNA 17
severity
ISO
miRNA:increased expression:blood
RGD
PMID:32600075
RGD:329349306
NCBI chr15:92,180,629...92,180,712
Ensembl chr15:92,180,629...92,180,712
G
Mir200a
microRNA 200a
treatment
IEP
RGD
PMID:30240970
RGD:156430315
NCBI chr 5:166,648,494...166,648,582
G
Mir221
microRNA 221
ameliorates
ISO IMP IEP
RNA:increased expression:lung,pulmonary artery smooth muscle cell
RGD
PMID:28694128 PMID:28694128 PMID:28694128
RGD:151356920 , RGD:151356920 , RGD:151356920
NCBI chr X:3,429,465...3,429,573
Ensembl chr X:3,429,465...3,429,573
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Mir675
microRNA 675
treatment
IEP
RGD
PMID:30240970
RGD:156430315
NCBI chr 1:197,732,275...197,732,358
Ensembl chr 1:197,732,275...197,732,358
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Mpp4
MAGUK p55 scaffold protein 4
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:60,569,734...60,613,035
Ensembl chr 9:60,569,734...60,611,797
G
Nbeal1
neurobeachin-like 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:61,575,154...61,743,896
Ensembl chr 9:61,575,356...61,736,750
G
Ndufb3
NADH:ubiquinone oxidoreductase subunit B3
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:60,129,240...60,139,452
Ensembl chr 9:60,129,154...60,139,446
G
Nif3l1
NGG1 interacting factor 3 like 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:59,980,101...60,001,490
Ensembl chr 9:59,979,799...60,000,131
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Nnmt
nicotinamide N-methyltransferase
IEP
protein:increased activity,altered activity:lung, liver (rat)
RGD
PMID:27581040
RGD:401793717
NCBI chr 8:48,928,663...48,947,734
Ensembl chr 8:48,933,598...48,946,655
G
Nop58
NOP58 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:61,120,939...61,144,810
Ensembl chr 9:61,120,929...61,144,810
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Nos3
nitric oxide synthase 3
treatment
ISO
RGD
PMID:23867624
RGD:329848996
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Notch1
notch receptor 1
ISO
protein:decreased expression:endothelial cell, nucleus: ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar RGD
PMID:15472075 PMID:16614245 PMID:18593716 PMID:19245433 PMID:19635999 PMID:20951801 PMID:20981092 PMID:21670202 PMID:22077063 PMID:22210878 PMID:22858860 PMID:23086750 PMID:23734977 PMID:24728327 PMID:24943832 PMID:25741868 PMID:26837699 PMID:28387797 PMID:28492532 PMID:29641532 PMID:30059548 PMID:30582441 PMID:35288444 PMID:34739767 More...
RGD:155646132
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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Notch3
notch receptor 3
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:22006983 PMID:22153900 PMID:22159056 PMID:24086431 PMID:25741868 PMID:26467025 PMID:26894465 PMID:28492532 More...
NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
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Orc2
origin recognition complex, subunit 2
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:60,001,631...60,038,301
Ensembl chr 9:60,001,910...60,038,195
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Park7
Parkinsonism associated deglycase
exacerbates
IMP
RGD
PMID:29069575
RGD:151347449
NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970
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Pdcd4
programmed cell death 4
treatment
IEP
RGD
PMID:30240970
RGD:156430315
NCBI chr 1:252,921,342...252,944,278
Ensembl chr 1:252,921,392...252,944,275
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Phf6
PHD finger protein 6
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25741868
NCBI chr X:132,656,658...132,699,720
Ensembl chr X:132,656,672...132,699,127
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Pms2
PMS1 homolog 2, mismatch repair system component
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:6144131 PMID:16144131 PMID:16283678 PMID:18602922 PMID:19283792 PMID:20205264 PMID:21239990 PMID:21376568 PMID:22658618 PMID:23012243 PMID:24362816 PMID:25525159 PMID:25637381 PMID:25741868 PMID:26467025 PMID:26895986 PMID:27273229 PMID:28492532 PMID:29489754 PMID:31433215 PMID:33753322 More...
NCBI chr12:10,676,818...10,701,161
Ensembl chr12:10,676,764...10,701,066
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Ppil3
peptidylprolyl isomerase like 3
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:59,966,405...59,980,147
Ensembl chr 9:59,964,919...59,979,886
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Ptgis
prostaglandin I2 synthase
treatment susceptibility
ISO IEP
human gene in a rat model DNA:repeat, SNPs:promoter, intron: , 185C>T, 325C>A ( , rs5582, rs116939356) (human)
RGD
PMID:17635855 PMID:23841984 PMID:24605778 PMID:11034952 PMID:18612919
RGD:401901195 , RGD:401959742 , RGD:401959406 , RGD:401959335 , RGD:401901264
NCBI chr 3:155,928,564...155,964,228
Ensembl chr 3:155,916,412...155,965,451
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Ptprd
protein tyrosine phosphatase, receptor type, D
ISO
mRNA:decreased expression:blood, pulmonary artery (human)
RGD
PMID:35848503
RGD:401976433
NCBI chr 5:90,046,993...90,698,977 NCBI chr 5:91,122,354...91,641,754
Ensembl chr 5:90,048,966...92,369,396
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Raph1
Ras association (RalGDS/AF-6) and pleckstrin homology domains 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:61,907,476...61,990,170
Ensembl chr 9:61,907,758...61,961,209
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Selenop
selenoprotein P
ISO
associated with systemic scleroderma;protein:decreased expression:serum
RGD
PMID:32630589
RGD:401827129
NCBI chr 2:52,498,123...52,508,409
Ensembl chr 2:52,498,339...52,508,852
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Sgo2
shugoshin 2
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:59,548,605...59,573,229
Ensembl chr 9:59,548,683...59,573,229
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Smad4
SMAD family member 4
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25559809 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29684080
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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Smad9
SMAD family member 9
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease
ClinVar
PMID:25741868 PMID:28492532 PMID:30029678
NCBI chr 2:138,956,326...139,006,315
Ensembl chr 2:138,986,471...139,006,307
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Sod2
superoxide dismutase 2
IEP ISO
protein:decreased expression:pulmonary artery protein:decreased expression:small pulmonary artery
RGD
PMID:20529999 PMID:20529999
RGD:27095884 , RGD:27095884
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Sod3
superoxide dismutase 3
exacerbates
IMP
RGD
PMID:21730301
RGD:14369425
NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
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Sod3m1Mcwi
superoxide dismutase 3; mutation 1, Medical College of Wisconsin
exacerbates
IMP
RGD
PMID:21730301
RGD:14369425
G
Sox17
SRY-box transcription factor 17
susceptibility onset
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension DNA:SNPs:enhancers: (rs10103692, rs13266183) (human) DNA:frameshift mutations, missense mutations, SNP:CDS, intron:multiple (human) DNA:nonsense mutation:CDS:p.Q127* (human) protein:decreased expression:lung endothelium (human) associated with congenital heart disease;DNA:mutations:multiple (human)
ClinVar RGD
PMID:30527955 PMID:29650961 PMID:33952808 PMID:36913491 PMID:30029678
RGD:329955464 , RGD:329853735 , RGD:329853326 , RGD:329853317 , RGD:329853313
NCBI chr 5:15,016,660...15,022,228
Ensembl chr 5:15,016,731...15,022,228
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Spats2l
spermatogenesis associated, serine-rich 2-like
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:59,319,949...59,493,864
Ensembl chr 9:59,320,276...59,493,967
G
Stradb
STE20 related adaptor beta
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:60,414,182...60,433,084
Ensembl chr 9:60,414,182...60,433,084
G
Sumo1
small ubiquitin-like modifier 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:61,078,790...61,108,697
Ensembl chr 9:61,077,435...61,108,761
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Tbx4
T-box transcription factor 4
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease
ClinVar
PMID:15106123 PMID:16199547 PMID:23592887 PMID:25741868 PMID:28492532 PMID:29120062 PMID:29631995 PMID:29650961 PMID:30004997 PMID:30029678 PMID:30578397 PMID:31151956 PMID:31727138 PMID:31761294 PMID:31965066 PMID:32079640 PMID:32581362 PMID:32860008 PMID:33066286 More...
NCBI chr10:70,730,686...70,760,829
Ensembl chr10:70,731,163...70,760,825
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Tgfbr1
transforming growth factor, beta receptor 1
ISO
mRNA:increased expression:lung
RGD
PMID:25593290
RGD:38500244
NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
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Tmem237
transmembrane protein 237
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:60,533,348...60,569,253
Ensembl chr 9:60,535,233...60,572,567
G
Topbp1
DNA topoisomerase II binding protein 1
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25741868
NCBI chr 8:103,887,805...103,931,662
Ensembl chr 8:103,887,865...103,931,674
G
Trak2
trafficking kinesin protein 2
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:60,348,531...60,414,036
Ensembl chr 9:60,350,012...60,413,996
G
Trpc4
transient receptor potential cation channel, subfamily C, member 4
ameliorates
IMP
RGD
PMID:24113457
RGD:150429956
NCBI chr 2:138,307,676...138,476,856
Ensembl chr 2:138,308,084...138,476,768
G
Trpc4Tn(sb)Tngen
transient receptor potential cation channel, subfamily C, member 4; sleeping beauty induced mutant, Tngen
ameliorates
IMP
RGD
PMID:24113457
RGD:150429956
G
Twist1
twist family bHLH transcription factor 1
ISO
mRNA, protein:increased expression: pulmonary artery,lung:
RGD
PMID:25593290
RGD:38500244
NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
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Vim
vimentin
ISO
protein:increased phosphorylation:lung
RGD
PMID:25593290
RGD:38500244
NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
G
Wdr12
WD repeat domain 12
ISO
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 9:61,475,498...61,502,762
Ensembl chr 9:61,475,517...61,502,469
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:10187774 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:16470589 PMID:16470787 PMID:16525724 PMID:16540754 PMID:16542389 PMID:16690726 PMID:16705692 PMID:16706966 PMID:16752392 PMID:16829353 PMID:16861286 PMID:17384219 PMID:17786384 PMID:18159113 PMID:18285823 PMID:18498373 PMID:18673552 PMID:19115559 PMID:19357124 PMID:19767588 PMID:20056902 PMID:20414677 PMID:20501893 PMID:20609011 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:24001356 PMID:24196379 PMID:24603890 PMID:25318803 PMID:25326635 PMID:25741868 PMID:25970827 PMID:26176610 PMID:26387786 PMID:27316748 PMID:27587546 PMID:27613157 PMID:27869117 PMID:28492532 PMID:29449337 PMID:29631995 PMID:29650961 PMID:29743074 PMID:30260738 PMID:30303062 PMID:30578383 PMID:31019026 PMID:31400083 PMID:31455059 PMID:31511490 PMID:31630786 PMID:32300199 PMID:32503579 PMID:32573726 PMID:32581362 PMID:33201366 PMID:33919892 PMID:34008892 PMID:34872578 PMID:36993588 More...
NCBI chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591
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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:15879500 PMID:18156574 PMID:20656886 PMID:22385575 PMID:23919827 PMID:25741868 PMID:28492532 PMID:32573726 More...
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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Dnm1l
dynamin 1-like
IEP
mRNA:increased expression:lung (rat)
RGD
PMID:23517027
RGD:12738217
NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
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Fis1
fission, mitochondrial 1
IEP
mRNA:increased expression:lung (rat)
RGD
PMID:23517027
RGD:12738217
NCBI chr12:19,708,560...19,723,392
Ensembl chr12:19,708,558...19,723,377
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Gucy1a1
guanylate cyclase 1 soluble subunit alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25373139
NCBI chr 2:167,418,615...167,482,293
Ensembl chr 2:167,418,640...167,481,671
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Hmox1
heme oxygenase 1
IEP
protein:increased expression:lung
RGD
PMID:21296072
RGD:10755745
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Mfn2
mitofusin 2
IEP
mRNA:decreased expression:lung (rat)
RGD
PMID:23517027
RGD:12738217
NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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RT1-Hb-ps1
RT1 class II, locus Hb, pseudogene 1
susceptibility
ISO
DNA:polymorphisms:cds:HLA-DPB1*0202 (human)
RGD
PMID:19165231
RGD:5143999
NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
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Ahr
aryl hydrocarbon receptor
treatment
IMP
RGD
PMID:33836606
RGD:401940192
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
IEP
mRNA:increased expression:lung (rat)
RGD
PMID:33836606
RGD:401940192
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Egfr
epidermal growth factor receptor
treatment
IMP
RGD
PMID:31264901
RGD:38599217
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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Egln1
egl-9 family hypoxia-inducible factor 1
IEP
RGD
PMID:16761101
RGD:11252085
NCBI chr19:52,867,900...52,907,308
Ensembl chr19:52,869,486...52,907,777
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Egln3
egl-9 family hypoxia-inducible factor 3
IEP
RGD
PMID:16761101
RGD:11252085
NCBI chr 6:71,650,297...71,675,766
Ensembl chr 6:71,650,297...71,675,766
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G6pd
glucose-6-phosphate dehydrogenase
treatment
IMP
RGD
PMID:25063801
RGD:10449119
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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Got1
glutamic-oxaloacetic transaminase 1
IEP
mRNA:decreased expression:lung (rat)
RGD
PMID:19823174
RGD:4145499
NCBI chr 1:242,357,293...242,381,535
Ensembl chr 1:242,357,306...242,380,633
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Got2
glutamic-oxaloacetic transaminase 2
IEP
mRNA:decreased expression:lung (rat)
RGD
PMID:19823174
RGD:4145499
NCBI chr19:9,174,304...9,199,995
Ensembl chr19:9,174,311...9,199,994
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Hpgd
15-hydroxyprostaglandin dehydrogenase
IEP
mRNA, protein:increased expression:lung
RGD
PMID:24657469
RGD:11667099
NCBI chr16:33,986,265...34,024,228
Ensembl chr16:33,986,266...34,024,228
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Il6
interleukin 6
ameliorates
IMP
RGD
PMID:38602915
RGD:407450417
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Il6em1Yona
interleukin 6; CRISPR/Cas9 induced mutant 1, Yona
ameliorates
IMP
RGD
PMID:38602915
RGD:407450417
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Mfn2
mitofusin 2
IEP
mRNA, protein:decreased expression:lung (rat)
RGD
PMID:26485208
RGD:12910856
NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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Nog
noggin
IEP
mRNA,protein:decreased expression:lung:
RGD
PMID:25740156
RGD:12801489
NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
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Nos3
nitric oxide synthase 3
IEP
mRNA,protein:increased expression:pulmonary artery
RGD
PMID:9950873
RGD:11533933
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Pcna
proliferating cell nuclear antigen
IEP
protein:increased expression:lung (rat)
RGD
PMID:26485208
RGD:12910856
NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995
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Ptgis
prostaglandin I2 synthase
treatment
IEP
RGD
PMID:12062720
RGD:401959327
NCBI chr 3:155,928,564...155,964,228
Ensembl chr 3:155,916,412...155,965,451
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Ptprd
protein tyrosine phosphatase, receptor type, D
IEP
mRNA, protein:decreased expression:pulmonary artery (rat)
RGD
PMID:35848503
RGD:401976433
NCBI chr 5:90,046,993...90,698,977 NCBI chr 5:91,122,354...91,641,754
Ensembl chr 5:90,048,966...92,369,396
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Slc39a12
solute carrier family 39 member 12
severity
IMP
RGD
PMID:26258299 PMID:26258299
RGD:10401832 , RGD:10401832
NCBI chr17:77,353,761...77,440,384
Ensembl chr17:77,353,805...77,440,353
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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
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Sox17
SRY-box transcription factor 17
exacerbates
ISO
protein:decreased expression:pulmonary artery endothelium (mouse)
RGD
PMID:37066790 PMID:36919784 PMID:36205124 PMID:36913491
RGD:329853316 , RGD:329853737 , RGD:329853734 , RGD:329853317
NCBI chr 5:15,016,660...15,022,228
Ensembl chr 5:15,016,731...15,022,228
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Stat3
signal transducer and activator of transcription 3
IDA
protein:increased phosphorylation:lung
RGD
PMID:38602915
RGD:407450417
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Atf4
activating transcription factor 4
IEP
protein:increased expression:lung
RGD
PMID:32209028
RGD:38549370
NCBI chr 7:111,804,135...111,806,457
Ensembl chr 7:111,804,183...111,806,446
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Bmpr2
bone morphogenetic protein receptor type 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
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Ddit3
DNA-damage inducible transcript 3
ISO IEP
protein:increased expression:lung, endothelial cell
RGD
PMID:32209028 PMID:32209028
RGD:38549370 , RGD:38549370
NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201
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Eif2ak2
eukaryotic translation initiation factor 2-alpha kinase 2
IEP
protein:increased expression:lung
RGD
PMID:32209028
RGD:38549370
NCBI chr 6:16,189,000...16,224,972
Ensembl chr 6:16,188,979...16,224,971
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Eif2ak3
eukaryotic translation initiation factor 2 alpha kinase 3
IEP
protein:increased expression:lung
RGD
PMID:32209028
RGD:38549370
NCBI chr 4:102,805,495...102,866,914
Ensembl chr 4:102,805,510...102,866,911
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Eif2ak4
eukaryotic translation initiation factor 2 alpha kinase 4
disease_progression
ISO IEP
protein:decreased expression:lung CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:24292273 PMID:32209028 PMID:32209028
RGD:38549370 , RGD:38549370
NCBI chr 3:105,356,261...105,441,630
Ensembl chr 3:105,356,261...105,441,630
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Erg
ETS transcription factor ERG
IEP ISO
protein:decreased expression:lung
RGD
PMID:32209028 PMID:32209028
RGD:38549370 , RGD:38549370
NCBI chr11:34,678,614...34,900,951
Ensembl chr11:34,678,618...34,845,871
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Hmox1
heme oxygenase 1
ISO IEP
protein:increased expression:lung, endothelial cell
RGD
PMID:32209028 PMID:32209028
RGD:38549370 , RGD:38549370
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Kcnk3
potassium two pore domain channel subfamily K member 3
IDA
RGD
PMID:32209028
RGD:38549370
NCBI chr 6:25,761,487...25,799,153
Ensembl chr 6:25,763,228...25,799,153
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Bmpr2
bone morphogenetic protein receptor type 2
ISO
ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1
OMIM ClinVar
PMID:3291115 PMID:10903931 PMID:11115378 PMID:12045205 PMID:12446270 PMID:15591269 PMID:15965979 PMID:16429395 PMID:16429403 PMID:18626305 PMID:19555857 PMID:20096498 PMID:20534176 PMID:21737554 PMID:21801371 PMID:23298310 PMID:24292273 PMID:25741868 PMID:26387786 PMID:28388887 PMID:28492532 PMID:28507310 PMID:31727138 PMID:31797984 PMID:32581362 PMID:34400635 More...
NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
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Eif2ak4
eukaryotic translation initiation factor 2 alpha kinase 4
ISO
ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1
ClinVar
PMID:24033266
NCBI chr 3:105,356,261...105,441,630
Ensembl chr 3:105,356,261...105,441,630
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Bmpr2
bone morphogenetic protein receptor type 2
ISO
ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis
ClinVar
PMID:18626305 PMID:24292273
NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
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Eif2ak4
eukaryotic translation initiation factor 2 alpha kinase 4
ISO
ClinVar Annotator: match by term: EIF2AK4-related condition | ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis
OMIM ClinVar
PMID:12215525 PMID:24033266 PMID:24135949 PMID:24292273 PMID:24310610 PMID:25512148 PMID:25741868 PMID:27684876 PMID:28492532 PMID:28972005 PMID:29743074 PMID:30285736 PMID:31711431 PMID:32581362 More...
NCBI chr 3:105,356,261...105,441,630
Ensembl chr 3:105,356,261...105,441,630
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
19055
disease of anatomical entity
18391
respiratory system disease
5220
lower respiratory tract disease
2353
lung disease
2314
pulmonary hypertension
420
Dursun Syndrome
1
Familial Cirrhosis with Pulmonary Hypertension
0
HUPRA Syndrome
2
Pulmonary Arterial Hypertension +
106
Pulmonary Edema of Mountaineers
5
Pulmonary Hypertension, Chronic Thromboembolic, without Deep Vein Thrombosis
1
Pulmonary Hypertension, Hypoxia-Induced
30
Rowley-Rosenberg Syndrome
0
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency
0
persistent fetal circulation syndrome
41
primary pulmonary hypertension +
86
pulmonary venoocclusive disease +
9
Path 2
disease
19055
disease of anatomical entity
18391
cardiovascular system disease
5515
vascular disease
4018
artery disease
2852
hypertension
1628
pulmonary hypertension
420
Dursun Syndrome
1
Familial Cirrhosis with Pulmonary Hypertension
0
HUPRA Syndrome
2
Pulmonary Arterial Hypertension +
106
Pulmonary Edema of Mountaineers
5
Pulmonary Hypertension, Chronic Thromboembolic, without Deep Vein Thrombosis
1
Pulmonary Hypertension, Hypoxia-Induced
30
Rowley-Rosenberg Syndrome
0
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency
0
persistent fetal circulation syndrome
41
primary pulmonary hypertension +
86
pulmonary venoocclusive disease +
9