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G |
Abca3 |
ATP binding cassette subfamily A member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26780485 |
|
NCBI chrNW_004936694:1,735,206...1,778,100
Ensembl chrNW_004936694:1,736,207...1,778,116
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|
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Ace2 |
angiotensin converting enzyme 2 |
treatment |
ISO |
CTD Direct Evidence: therapeutic human protein in a rat model |
CTD RGD |
PMID:25225206 PMID:31931441 |
RGD:40818280 |
NCBI chrNW_004936470:4,964,526...5,011,808
Ensembl chrNW_004936470:4,965,332...5,011,702
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|
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Acvrl1 |
activin A receptor like type 1 |
susceptibility disease_progression |
ISO |
associated with hereditary haemorrhagic telangiectasia;DNA:missense mutations CTD Direct Evidence: marker/mechanism mRNA:increased expression:lung DNA:mutations (human) |
RGD CTD |
PMID:14684682 PMID:17392319 PMID:20056902 PMID:26540443 |
RGD:1601116 RGD:1601117 RGD:5128837 |
NCBI chrNW_004936512:9,364,551...9,379,131
Ensembl chrNW_004936512:9,364,149...9,379,431
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Adipoq |
adiponectin, C1Q and collagen domain containing |
|
ISO |
|
RGD |
PMID:19168697 |
RGD:5686821 |
NCBI chrNW_004936578:3,168,599...3,179,369
Ensembl chrNW_004936578:3,168,331...3,171,928
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Adm |
adrenomedullin |
|
ISO |
|
RGD |
PMID:14718403 |
RGD:1625305 |
NCBI chrNW_004936528:8,005,223...8,007,586
Ensembl chrNW_004936528:8,005,189...8,007,643
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Ager |
advanced glycosylation end-product specific receptor |
|
ISO |
protein:increased expression:lung (human) |
RGD |
PMID:21041689 |
RGD:7244258 |
NCBI chrNW_004936727:1,418,342...1,422,005
Ensembl chrNW_004936727:1,418,799...1,422,147
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Agt |
angiotensinogen |
|
ISO |
|
RGD |
PMID:21381494 |
RGD:5129162 |
NCBI chrNW_004936484:19,713,299...19,721,144
Ensembl chrNW_004936484:19,716,165...19,721,261
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Agtr1 |
angiotensin II receptor type 1 |
onset |
ISO |
DNA:polymorphism:3' utr:1166A>C (human) |
RGD |
PMID:19332265 |
RGD:5147450 |
NCBI chrNW_004936519:6,831,096...6,873,977
Ensembl chrNW_004936519:6,831,096...6,873,985
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Ahr |
aryl hydrocarbon receptor |
ameliorates |
ISO |
6-formylindolo[3,2-b]carbazole (FICZ)|semaxanib (CHEBI:91083) compared to wild type littermates |
RGD |
PMID:33836606 |
RGD:401940192 |
NCBI chrNW_004936546:3,737,908...3,783,492
Ensembl chrNW_004936546:3,737,851...3,783,588
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G |
Alas1 |
5'-aminolevulinate synthase 1 |
|
ISO |
mRNA:increased expression:lung (rat) |
RGD |
PMID:16181105 |
RGD:4144185 |
NCBI chrNW_004936529:3,518,337...3,531,842
Ensembl chrNW_004936529:3,518,322...3,531,845
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|
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Alox5 |
arachidonate 5-lipoxygenase |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism protein:increased expression:artery |
CTD RGD |
PMID:8647941 PMID:9445303 PMID:14726295 PMID:31462075 |
RGD:14975304 RGD:1626154 RGD:4890418 RGD:734558 |
NCBI chrNW_004936554:7,807,914...7,848,691
Ensembl chrNW_004936554:7,808,355...7,867,931
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Alox5ap |
arachidonate 5-lipoxygenase activating protein |
|
ISO |
protein:increased expression:artery |
RGD |
PMID:8647941 PMID:9445303 |
RGD:1626154 RGD:734558 |
NCBI chrNW_004936472:25,477,094...25,502,823
Ensembl chrNW_004936472:25,477,010...25,502,840
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Angpt1 |
angiopoietin 1 |
|
ISO |
protein:decreased expression:pulmonary artery |
RGD |
PMID:18073453 |
RGD:2316069 |
NCBI chrNW_004936470:37,105,469...37,328,183
Ensembl chrNW_004936470:37,105,466...37,328,190
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Angpt2 |
angiopoietin 2 |
|
ISO |
protein:increased expression:pulmonary artery (rat) |
RGD |
PMID:19712575 |
RGD:2314185 |
NCBI chrNW_004936615:4,472,261...4,524,537
Ensembl chrNW_004936615:4,472,247...4,524,556
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G |
Apln |
apelin |
|
ISO |
protein:decreased expression:plasma |
RGD |
PMID:16263185 |
RGD:1626175 |
NCBI chrNW_004936479:1,889,930...1,899,811
Ensembl chrNW_004936479:1,890,229...1,899,730
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G |
Arg2 |
arginase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24951775 |
|
NCBI chrNW_004936495:11,004,296...11,045,467
Ensembl chrNW_004936495:11,004,176...11,045,472
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G |
Atp2a2 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 |
treatment |
ISO |
|
RGD |
PMID:23804254 PMID:27144451 |
RGD:13782086 RGD:13782089 |
NCBI chrNW_004936558:3,300,941...3,357,595
Ensembl chrNW_004936558:3,300,941...3,357,941
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G |
Atp5f1a |
ATP synthase F1 subunit alpha |
treatment |
ISO |
chronic thromboembolic pulmonary hypertension |
RGD |
PMID:21396162 |
RGD:13703061 |
NCBI chrNW_004936517:743,036...752,836
Ensembl chrNW_004936517:742,791...753,336
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G |
Atp5pf |
ATP synthase peripheral stalk subunit F6 |
treatment |
ISO |
mRNA, protein:increased expression:lung, plasma (rat) |
RGD |
PMID:27491388 PMID:27916219 |
RGD:13800892 RGD:13800894 |
NCBI chrNW_004936640:1,916,711...1,924,823
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Atp7a |
ATPase copper transporting alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24614111 |
|
NCBI chrNW_004936683:2,874,022...2,936,214
Ensembl chrNW_004936683:2,874,042...2,935,040
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G |
Bcl2 |
BCL2 apoptosis regulator |
|
ISO |
protein:decreased expression:heart right ventricle |
RGD |
PMID:18441466 |
RGD:2293022 |
NCBI chrNW_004936497:2,209,136...2,373,580
Ensembl chrNW_004936497:2,210,334...2,210,921
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Bcl2l1 |
BCL2 like 1 |
treatment |
ISO |
|
RGD |
PMID:22559233 |
RGD:10400914 |
NCBI chrNW_004936485:18,654,046...18,707,324
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Bdkrb2 |
bradykinin receptor B2 |
|
ISO |
|
RGD |
PMID:15878794 |
RGD:4890453 |
NCBI chrNW_004936604:548,844...551,031
Ensembl chrNW_004936604:548,847...549,956
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G |
Birc5 |
baculoviral IAP repeat containing 5 |
|
ISO |
protein:increased expression:pulmonary artery |
RGD |
PMID:15931388 |
RGD:2293135 |
NCBI chrNW_004936594:2,812,165...2,820,618
Ensembl chrNW_004936594:2,812,238...2,820,636
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G |
Bmpr1a |
bone morphogenetic protein receptor type 1A |
|
ISO |
|
RGD |
PMID:19324947 |
RGD:5129472 |
NCBI chrNW_004936804:52,435...115,289
Ensembl chrNW_004936804:48,947...115,412
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G |
Bmpr1b |
bone morphogenetic protein receptor type 1B |
|
ISO |
|
RGD |
PMID:19324947 |
RGD:5129472 |
NCBI chrNW_004936687:2,346,601...2,595,283
Ensembl chrNW_004936687:2,503,777...2,597,522
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|
G |
Bmpr2 |
bone morphogenetic protein receptor type 2 |
treatment disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism induced by human ad-ALOX5 protein:decreased expression:lung DNA:missense mutations (human) DNA:mutations: :multiple (human) |
CTD RGD |
PMID:11590841 PMID:11893684 PMID:12358323 PMID:15775752 PMID:16297860 PMID:18663089 PMID:19324947 PMID:19785764 PMID:20002458 PMID:20496075 PMID:20522807 PMID:20534176 PMID:21737550 PMID:23383100 PMID:23502781 PMID:24224048 PMID:25593290 PMID:31462075 More...
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RGD:14975304 RGD:1580076 RGD:38500243 RGD:38500244 RGD:5129237 RGD:5129238 RGD:5129239 RGD:5129472 RGD:5129474 |
NCBI chrNW_004936726:1,543,263...1,711,422
Ensembl chrNW_004936726:1,543,245...1,704,541
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G |
Brd4 |
bromodomain containing 4 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:26224795 |
|
NCBI chrNW_004936596:5,176,682...5,246,102
Ensembl chrNW_004936596:5,177,147...5,246,518
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|
G |
Ca9 |
carbonic anhydrase 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20110409 |
|
NCBI chrNW_004936524:3,672,393...3,678,630
Ensembl chrNW_004936524:3,672,541...3,678,433
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|
G |
Calca |
calcitonin related polypeptide alpha |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:1357980 |
|
NCBI chrNW_004936528:3,800,801...3,806,000
Ensembl chrNW_004936528:3,800,577...3,805,004
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|
G |
Casr |
calcium sensing receptor |
|
ISO |
protein:increased expression:pulmonary artery (rat) |
RGD |
PMID:22730443 |
RGD:7205669 |
NCBI chrNW_004936536:8,574,064...8,599,446
Ensembl chrNW_004936536:8,574,064...8,599,454
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|
G |
Cav1 |
caveolin 1 |
treatment |
ISO |
idiopathic pulmonary arterial hypertension (IPAH) |
RGD |
PMID:15353500 PMID:17470567 PMID:23538027 |
RGD:1581153 RGD:1625360 RGD:8662276 |
NCBI chrNW_004936589:2,504,235...2,536,778
Ensembl chrNW_004936589:2,504,224...2,537,170
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G |
Cavin1 |
caveolae associated protein 1 |
|
ISO |
OMIM:615371 |
MouseDO |
|
|
NCBI chrNW_004936490:17,197,585...17,200,041
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|
G |
Cbln2 |
cerebellin 2 precursor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23502781 |
|
NCBI chrNW_004936756:567,906...576,276
Ensembl chrNW_004936756:567,710...575,205
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|
G |
Ccl1 |
C-C motif chemokine ligand 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22507635 |
|
NCBI chrNW_004936538:781,687...784,199
Ensembl chrNW_004936538:781,687...784,199
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G |
Ccl5 |
C-C motif chemokine ligand 5 |
|
ISO |
protein:increased secretion:serum (human) |
RGD |
PMID:19932032 |
RGD:4891440 |
NCBI chrNW_004936490:253,279...259,947
Ensembl chrNW_004936490:253,034...259,965
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G |
Ccn2 |
cellular communication network factor 2 |
|
ISO |
protein:increased expression:pulmonary artery (rat) |
RGD |
PMID:19234054 |
RGD:2314535 |
NCBI chrNW_004936560:42,561...45,748
Ensembl chrNW_004936560:42,537...45,807
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G |
Cd28 |
CD28 molecule |
|
ISO |
|
RGD |
PMID:19075187 |
RGD:5131619 |
NCBI chrNW_004936631:335,411...363,407
Ensembl chrNW_004936631:335,411...363,407
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G |
Cd40 |
CD40 molecule |
treatment |
ISO |
|
RGD |
PMID:25998782 |
RGD:11344970 |
NCBI chrNW_004936514:6,936,915...6,947,246
Ensembl chrNW_004936514:6,936,572...6,947,280
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|
G |
Cd40lg |
CD40 ligand |
|
ISO |
CTD Direct Evidence: marker/mechanism protein:increased expression:serum (rat) |
CTD RGD |
PMID:15302794 PMID:25998782 |
RGD:11344970 |
NCBI chrNW_004936513:10,607,617...10,620,403
Ensembl chrNW_004936513:10,607,617...10,620,403
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|
G |
Cd86 |
CD86 molecule |
|
ISO |
protein:decreased expression:blood, myeloid dendritic cell (human) |
RGD |
PMID:19693657 |
RGD:4892293 |
NCBI chrNW_004936536:8,414,491...8,481,712
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G |
Cdh5 |
cadherin 5 |
|
ISO |
protein:decreased expression:lung |
RGD |
PMID:25593290 |
RGD:38500244 |
NCBI chrNW_004936475:16,738,772...16,775,000
Ensembl chrNW_004936475:16,738,748...16,775,123
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G |
Cdkn1a |
cyclin dependent kinase inhibitor 1A |
treatment |
ISO |
|
RGD |
PMID:24334871 PMID:24412385 |
RGD:10043360 RGD:10043361 |
NCBI chrNW_004936476:22,717,308...22,725,127
Ensembl chrNW_004936476:22,717,260...22,725,182
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G |
Cdkn1b |
cyclin dependent kinase inhibitor 1B |
treatment |
ISO |
|
RGD |
PMID:22383500 |
RGD:10045357 |
NCBI chrNW_004936587:4,573,166...4,578,480
Ensembl chrNW_004936587:4,572,728...4,578,461
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G |
Clu |
clusterin |
|
ISO |
|
RGD |
PMID:25069740 |
RGD:9068424 |
NCBI chrNW_004936675:499,745...513,515
Ensembl chrNW_004936675:499,199...513,836
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G |
Col1a1 |
collagen type I alpha 1 chain |
treatment |
ISO |
|
RGD |
PMID:25867313 |
RGD:11041577 |
NCBI chrNW_004936490:11,448,552...11,465,836
Ensembl chrNW_004936490:11,448,654...11,464,444
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G |
Col4a1 |
collagen type IV alpha 1 chain |
treatment |
ISO |
|
RGD |
PMID:25867313 |
RGD:11041577 |
NCBI chrNW_004936472:2,416,043...2,543,561
Ensembl chrNW_004936472:2,416,566...2,542,814
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G |
Crp |
C-reactive protein |
|
ISO |
associated with Pulmonary Disease, Chronic Obstructive |
RGD |
PMID:22333502 |
RGD:6482312 |
NCBI chrNW_004936740:885,855...888,854
Ensembl chrNW_004936740:883,272...890,606
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G |
Csf3 |
colony stimulating factor 3 |
treatment |
ISO |
|
RGD |
PMID:12524378 PMID:17186992 |
RGD:11039432 RGD:11039539 |
NCBI chrNW_004936490:15,142,526...15,146,375
Ensembl chrNW_004936490:15,142,808...15,144,487
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G |
Ctnnd1 |
catenin delta 1 |
treatment |
ISO |
|
RGD |
PMID:25593290 |
RGD:38500244 |
NCBI chrNW_004936581:4,750,845...4,802,262
Ensembl chrNW_004936581:4,750,947...4,802,289
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|
G |
Cx3cl1 |
C-X3-C motif chemokine ligand 1 |
|
ISO |
mRNA, protein:increased expression:lung associated with Heart Defects, Congenital |
RGD |
PMID:18630689 PMID:19948918 PMID:20869263 |
RGD:4891883 RGD:4891887 RGD:4891889 |
NCBI chrNW_004936475:9,443,851...9,454,715
Ensembl chrNW_004936475:9,443,733...9,455,062
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G |
Cx3cr1 |
C-X3-C motif chemokine receptor 1 |
|
ISO |
mRNA, protein:increased expression:lung associated with Scleroderma, Systemic;DNA:polymorphisms: :p.V249I, p.T280M (human) |
RGD |
PMID:16584113 PMID:17182651 |
RGD:4891893 RGD:4891896 |
NCBI chrNW_004936473:28,508,726...28,535,640
Ensembl chrNW_004936473:28,510,523...28,535,627
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G |
Cxcr4 |
C-X-C motif chemokine receptor 4 |
treatment |
ISO |
|
RGD |
PMID:21294880 |
RGD:6480473 |
NCBI chrNW_004936469:39,794,613...39,798,448
Ensembl chrNW_004936469:39,794,584...39,798,459
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G |
Cysltr1 |
cysteinyl leukotriene receptor 1 |
|
ISO |
associated with Anoxia |
RGD |
PMID:12910720 |
RGD:4848274 |
NCBI chrNW_004936547:479,261...504,757
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G |
Dll4 |
delta like canonical Notch ligand 4 |
|
ISO |
|
RGD |
PMID:34739767 |
RGD:155646132 |
NCBI chrNW_004936471:4,320,235...4,330,251
Ensembl chrNW_004936471:4,320,933...4,330,253
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G |
Ece1 |
endothelin converting enzyme 1 |
|
ISO |
associated with Anoxia; |
RGD |
PMID:18767389 |
RGD:7243939 |
NCBI chrNW_004936474:7,034,134...7,083,005
Ensembl chrNW_004936474:7,034,134...7,083,005
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G |
Edn1 |
endothelin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism associated with Pulmonary Disease, Chronic Obstructive; protein:increased secretion:plasma (human) mRNA:increased expression:lung (rat) Hypertension, Heritable Pulmonary Artery; mRNA:increased expression:bone marrow, macrophage (mouse) Hypertension, Portopulmonary; protein:increased secretion:plasma (human) |
CTD RGD |
PMID:7549228 PMID:9918753 PMID:12391278 PMID:20498147 PMID:20562228 PMID:20889845 PMID:20890431 PMID:20929026 PMID:20967148 More...
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RGD:4144128 RGD:4144865 RGD:4144877 RGD:4144882 |
NCBI chrNW_004936534:885,489...892,292
Ensembl chrNW_004936534:885,287...891,772
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G |
Edn2 |
endothelin 2 |
|
ISO |
|
RGD |
PMID:10598486 |
RGD:1580918 |
NCBI chrNW_004936474:23,061,219...23,064,525
Ensembl chrNW_004936474:23,060,905...23,064,566
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G |
Ednra |
endothelin receptor type A |
|
ISO |
|
RGD |
PMID:15243299 PMID:18506008 PMID:20531217 PMID:20562228 |
RGD:1580949 RGD:4144877 RGD:4892283 RGD:4892320 |
NCBI chrNW_004936535:1,950,117...2,005,786
Ensembl chrNW_004936535:1,949,941...2,005,910
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G |
Ednrb |
endothelin receptor type B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15243299 PMID:15927975 PMID:18091567 PMID:20562228 |
RGD:1580949 RGD:4144877 RGD:4892289 |
NCBI chrNW_004936511:3,446,864...3,478,434
Ensembl chrNW_004936511:3,446,839...3,478,434
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G |
Egfr |
epidermal growth factor receptor |
|
ISO |
protein:increased expression:lung, arteriole (human) |
RGD |
PMID:12896876 PMID:21492463 |
RGD:5131626 RGD:5131639 |
NCBI chrNW_004936678:365,005...560,546
Ensembl chrNW_004936678:365,834...436,528
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G |
Egr1 |
early growth response 1 |
|
ISO |
protein:increased expression:lung (human) mRNA, protein:increased expression:lung (rat) mRNA, protein:increased expression:lung (mouse) |
RGD |
PMID:18599502 PMID:20023177 PMID:20889906 PMID:21924231 |
RGD:10395308 RGD:5131875 RGD:5131883 RGD:5131890 |
NCBI chrNW_004936531:7,625,956...7,629,041
Ensembl chrNW_004936531:7,625,892...7,629,749
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G |
Eif2ak4 |
eukaryotic translation initiation factor 2 alpha kinase 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24292273 |
|
NCBI chrNW_004936471:3,423,792...3,527,089
Ensembl chrNW_004936471:3,423,813...3,526,913
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G |
Eng |
endoglin |
|
ISO |
|
RGD |
PMID:20042709 |
RGD:11041178 |
NCBI chrNW_004936487:15,467,165...15,499,180
Ensembl chrNW_004936487:15,467,835...15,477,488
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G |
Epas1 |
endothelial PAS domain protein 1 |
|
ISO |
DNA:missense mutation:cds: 2097G>A,p.G537R(human) |
RGD |
PMID:16215633 PMID:18650473 |
RGD:10395375 RGD:11041573 |
NCBI chrNW_004936508:5,855,748...5,938,879
Ensembl chrNW_004936508:5,855,732...5,938,856
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G |
Ephx2 |
epoxide hydrolase 2 |
|
ISO |
|
RGD |
PMID:19226702 |
RGD:5688731 |
NCBI chrNW_004936675:350,357...392,919
Ensembl chrNW_004936675:350,342...392,551
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G |
Epo |
erythropoietin |
treatment |
ISO |
|
RGD |
PMID:22559233 |
RGD:10400914 |
NCBI chrNW_004936543:742,722...745,332
Ensembl chrNW_004936543:743,537...745,343
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G |
Esr1 |
estrogen receptor 1 |
|
ISO |
|
RGD |
PMID:20081107 |
RGD:4892253 |
NCBI chrNW_004936489:4,616,839...4,887,179
Ensembl chrNW_004936489:4,614,754...4,887,171
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G |
Esr2 |
estrogen receptor 2 |
|
ISO |
|
RGD |
PMID:21700911 |
RGD:5508791 |
NCBI chrNW_004936495:7,956,168...8,018,356
Ensembl chrNW_004936495:7,956,766...8,004,357
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G |
F5 |
coagulation factor V |
|
ISO |
Chronic thromboembolic pulmonary hypertension (CTEPH) |
RGD |
PMID:20182352 |
RGD:4892669 |
NCBI chrNW_004936481:17,114,441...17,178,902
Ensembl chrNW_004936481:17,114,480...17,178,844
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G |
Fbln5 |
fibulin 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12189163 |
|
NCBI chrNW_004936733:136,374...200,106
Ensembl chrNW_004936733:137,207...209,473
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G |
Fgfr1 |
fibroblast growth factor receptor 1 |
|
ISO |
|
RGD |
PMID:19197140 |
RGD:2315911 |
NCBI chrNW_004936710:1,760,365...1,815,269
Ensembl chrNW_004936710:1,760,089...1,815,508
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G |
Foxo1 |
forkhead box O1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27663689 |
|
NCBI chrNW_004936565:5,210,014...5,299,213
Ensembl chrNW_004936565:5,210,014...5,302,436
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G |
Gata4 |
GATA binding protein 4 |
|
ISO |
protein:increased expression:heart right ventricle |
RGD |
PMID:21059997 |
RGD:7207053 |
NCBI chrNW_004936675:3,408,549...3,420,828
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G |
Gata6 |
GATA binding protein 6 |
|
ISO |
mRNA, protein:decreased expression:lung protein:decreased expression:lung, arteriole, venule (human) |
RGD |
PMID:19842842 PMID:23583651 |
RGD:13208869 RGD:2314194 |
NCBI chrNW_004936550:1,814,336...1,844,399
Ensembl chrNW_004936550:1,814,336...1,844,399
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G |
Gba1 |
glucosylceramidase beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12359135 |
|
NCBI chrNW_004936580:4,715,869...4,720,752
Ensembl chrNW_004936580:4,715,408...4,720,798
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G |
Gdf2 |
growth differentiation factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26801773 |
|
NCBI chrNW_004936554:7,307,461...7,322,048
Ensembl chrNW_004936554:7,316,435...7,322,060
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G |
Gja1 |
gap junction protein alpha 1 |
treatment |
ISO |
mRNA:increased expression:pulmonary artery |
RGD |
PMID:21414209 PMID:23321332 |
RGD:7207411 RGD:8662411 |
NCBI chrNW_004936658:3,920,043...3,932,987
Ensembl chrNW_004936658:3,920,043...3,932,987
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G |
Gpr182 |
G protein-coupled receptor 182 |
|
ISO |
mRNA:increased expression:lung |
RGD |
PMID:12622928 |
RGD:1625768 |
NCBI chrNW_004936646:1,210,711...1,212,746
Ensembl chrNW_004936646:1,210,757...1,212,425
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G |
Has1 |
hyaluronan synthase 1 |
|
ISO |
|
RGD |
PMID:19915162 |
RGD:9588633 |
NCBI chrNW_004937026:125,622...132,141
Ensembl chrNW_004937026:125,881...135,235
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G |
Has2 |
hyaluronan synthase 2 |
|
ISO |
mRNA:increased expression:lung |
RGD |
PMID:19915162 |
RGD:9588633 |
NCBI chrNW_004936470:25,418,069...25,443,332
Ensembl chrNW_004936470:25,418,063...25,444,634
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G |
Has3 |
hyaluronan synthase 3 |
|
ISO |
mRNA:decreased expression:lung |
RGD |
PMID:19915162 |
RGD:9588633 |
NCBI chrNW_004936475:19,270,788...19,282,922
Ensembl chrNW_004936475:19,270,830...19,282,907
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G |
Hdac1 |
histone deacetylase 1 |
|
ISO |
protein:increased expression:lung: |
RGD |
PMID:22711276 |
RGD:9590133 |
NCBI chrNW_004936474:15,320,635...15,351,418
Ensembl chrNW_004936474:15,320,729...15,350,860
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G |
Hdac2 |
histone deacetylase 2 |
|
ISO |
protein:decreased expression:lung: |
RGD |
PMID:22711276 |
RGD:9590133 |
NCBI chrNW_004936679:2,448,676...2,474,641
Ensembl chrNW_004936679:2,448,390...2,474,641
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G |
Hdac3 |
histone deacetylase 3 |
|
ISO |
protein:decreased expression:lung: |
RGD |
PMID:22711276 |
RGD:9590133 |
NCBI chrNW_004936504:12,530,546...12,546,556
Ensembl chrNW_004936504:12,530,528...12,546,556
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G |
Hdac4 |
histone deacetylase 4 |
|
ISO |
protein:increased expression:lung: |
RGD |
PMID:22711276 |
RGD:9590133 |
NCBI chrNW_004936745:1,730,743...1,942,071
Ensembl chrNW_004936745:1,730,694...1,942,074
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G |
Hdac5 |
histone deacetylase 5 |
|
ISO |
protein:increased expression:lung: |
RGD |
PMID:22711276 |
RGD:9590133 |
NCBI chrNW_004936541:561,721...598,915
Ensembl chrNW_004936541:558,414...599,195
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G |
Hey1 |
hes related family bHLH transcription factor with YRPW motif 1 |
|
ISO |
mRNA:decreased expression:lung: |
RGD |
PMID:34739767 |
RGD:155646132 |
NCBI chrNW_004936871:666,961...670,910
Ensembl chrNW_004936871:666,938...670,916
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G |
Hif1a |
hypoxia inducible factor 1 subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism associated with Anoxia;protein:increased expression:pulmonary artery |
CTD RGD |
PMID:16215633 PMID:17213961 PMID:20110409 |
RGD:10395375 RGD:1601553 |
NCBI chrNW_004936495:5,770,988...5,816,157
Ensembl chrNW_004936495:5,770,669...5,816,157
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G |
Hif3a |
hypoxia inducible factor 3 subunit alpha |
|
ISO |
|
RGD |
PMID:16215633 |
RGD:10395375 |
NCBI chrNW_004936664:296,288...323,143
Ensembl chrNW_004936664:294,975...323,149
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G |
Hk1 |
hexokinase 1 |
|
ISO |
mRNA:increased expression:lung |
RGD |
PMID:25767292 |
RGD:11353880 |
NCBI chrNW_004936521:9,067,062...9,139,112
Ensembl chrNW_004936521:9,066,999...9,159,793
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G |
Hmgb1 |
high mobility group box 1 |
treatment |
ISO |
|
RGD |
PMID:25032709 |
RGD:10402082 |
NCBI chrNW_004936472:25,236,728...25,246,585
Ensembl chrNW_004936472:25,236,728...25,246,580
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G |
Hmgcr |
3-hydroxy-3-methylglutaryl-CoA reductase |
|
ISO |
|
RGD |
PMID:12750068 |
RGD:5508701 |
NCBI chrNW_004936549:1,378,536...1,400,501
Ensembl chrNW_004936549:1,378,736...1,400,532
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G |
Hmox1 |
heme oxygenase 1 |
|
ISO |
|
RGD |
PMID:14970910 PMID:19409105 PMID:20957739 |
RGD:1582715 RGD:4145307 RGD:4145325 |
NCBI chrNW_004936492:5,042,353...5,049,216
Ensembl chrNW_004936492:5,042,330...5,049,311
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G |
Hpgd |
15-hydroxyprostaglandin dehydrogenase |
|
ISO |
mRNA, protein:increased expression:lung |
RGD |
PMID:24657469 |
RGD:11667099 |
NCBI chrNW_004936516:5,551,192...5,578,796
Ensembl chrNW_004936516:5,550,203...5,578,832
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G |
Htr1b |
5-hydroxytryptamine receptor 1B |
ameliorates |
ISO |
|
RGD |
PMID:28473438 |
RGD:329955562 |
NCBI chrNW_004936890:154,252...157,044
Ensembl chrNW_004936890:155,233...156,408
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G |
Htr2b |
5-hydroxytryptamine receptor 2B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14659797 |
|
NCBI chrNW_004936525:5,711,894...5,729,074
Ensembl chrNW_004936525:5,712,329...5,729,831
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G |
Hyal1 |
hyaluronidase 1 |
|
ISO |
mRNA:decreased expression:lung |
RGD |
PMID:19915162 |
RGD:9588633 |
NCBI chrNW_004936529:1,838,212...1,842,399
Ensembl chrNW_004936529:1,838,676...1,841,188
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G |
Hyal2 |
hyaluronidase 2 |
|
ISO |
mRNA:decreased expression:lung |
RGD |
PMID:19915162 |
RGD:9588633 |
NCBI chrNW_004936529:1,845,445...1,851,106
Ensembl chrNW_004936529:1,845,763...1,851,252
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G |
Icam1 |
intercellular adhesion molecule 1 |
|
ISO |
associated with Heart Defects, Congenital;protein:increased secretion:serum (human) |
RGD |
PMID:21034646 |
RGD:4145436 |
NCBI chrNW_004936659:616,570...627,172
Ensembl chrNW_004936659:616,752...627,174
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G |
Id1 |
inhibitor of DNA binding 1, HLH protein |
|
ISO |
|
RGD |
PMID:20522807 |
RGD:9686087 |
NCBI chrNW_004936485:18,610,721...18,611,889
Ensembl chrNW_004936485:18,610,665...18,612,059
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G |
Ifngr1 |
interferon gamma receptor 1 |
|
ISO |
mRNA: increased expression |
RGD |
PMID:20808962 |
RGD:4892610 |
NCBI chrNW_004936560:4,519,858...4,545,763
Ensembl chrNW_004936560:4,519,474...4,545,796
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G |
Il10 |
interleukin 10 |
disease_progression |
ISO |
protein:increased expression:serum |
RGD |
PMID:20713898 |
RGD:4142530 |
NCBI chrNW_004936557:5,834,874...5,838,502
Ensembl chrNW_004936557:5,834,874...5,838,502
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G |
Il13 |
interleukin 13 |
|
ISO |
associated with Scleroderma, Limited;protein:increased expression:plasma associated with sclerosis; protein:increased expression:plasma (human) |
RGD |
PMID:19799786 PMID:21425123 |
RGD:4145600 RGD:8549528 |
NCBI chrNW_004936647:2,529,933...2,532,503
Ensembl chrNW_004936647:2,530,491...2,532,373
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G |
Il13ra1 |
interleukin 13 receptor subunit alpha 1 |
|
ISO |
|
RGD |
PMID:20671265 PMID:20808962 |
RGD:4892610 RGD:4892611 |
NCBI chrNW_004936479:11,052,077...11,108,915
Ensembl chrNW_004936479:11,050,249...11,108,909
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G |
Il13ra2 |
interleukin 13 receptor subunit alpha 2 |
|
ISO |
mRNA:increased expression:lung |
RGD |
PMID:20522789 |
RGD:4892612 |
NCBI chrNW_004936499:860,179...883,884
Ensembl chrNW_004936499:863,599...883,855
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G |
Il18 |
interleukin 18 |
|
ISO |
|
RGD |
PMID:17400729 |
RGD:4889590 |
NCBI chrNW_004936612:2,306,963...2,325,086
Ensembl chrNW_004936612:2,306,875...2,325,189
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G |
Il1b |
interleukin 1 beta |
|
ISO |
protein:increased expression:serum associated with Scleroderma, Limited;protein:increased expression:serum |
RGD |
PMID:20713898 PMID:20808962 |
RGD:4142530 RGD:4892610 |
NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165
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G |
Il1rn |
interleukin 1 receptor antagonist |
|
ISO |
|
RGD |
PMID:7946395 |
RGD:4143197 |
NCBI chrNW_004936783:1,447,158...1,466,331
Ensembl chrNW_004936783:1,447,106...1,466,340
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G |
Il23r |
interleukin 23 receptor |
|
ISO |
associated with Scleroderma, Systemic;DNA:SNPs: :rs11209026, rs11465804 (human) |
RGD |
PMID:19918037 |
RGD:5096624 |
NCBI chrNW_004936591:4,365,598...4,425,053
Ensembl chrNW_004936591:4,365,762...4,425,005
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G |
Il6 |
interleukin 6 |
disease_progression |
ISO |
|
RGD |
PMID:20693255 PMID:20713898 |
RGD:4142530 RGD:4143246 |
NCBI chrNW_004936549:7,015,595...7,016,246
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G |
Kcnk3 |
potassium two pore domain channel subfamily K member 3 |
severity |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:30365877 PMID:31347976 |
RGD:151347452 |
NCBI chrNW_004936493:5,767,779...5,772,043
Ensembl chrNW_004936493:5,770,103...5,772,326
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G |
Kcnma1 |
potassium calcium-activated channel subfamily M alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28090300 |
|
NCBI chrNW_004936521:2,000,113...2,706,010
Ensembl chrNW_004936521:2,000,109...2,705,365
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G |
Kdm5b |
lysine demethylase 5B |
|
ISO |
associated with Hypoxia;protein:increased expression:pulmonary artery,smooth muscle tissue (mouse) |
RGD |
PMID:30172777 |
RGD:329955443 |
NCBI chrNW_004936567:1,782,056...1,860,861
Ensembl chrNW_004936567:1,781,995...1,863,461
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G |
Lcn2 |
lipocalin 2 |
|
ISO |
associated with congenital heart disease; protein:increased expression:plasma mRNA,protein:increased expression:lung |
RGD |
PMID:25076856 |
RGD:126781744 |
NCBI chrNW_004936487:15,721,752...15,725,396
Ensembl chrNW_004936487:15,721,684...15,728,221
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G |
Lepr |
leptin receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30689673 |
|
NCBI chrNW_004936591:5,771,371...5,846,177
Ensembl chrNW_004936591:5,774,326...5,836,444
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G |
LOC101964975 |
interleukin-8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15302794 |
|
NCBI chrNW_004936598:1,779,471...1,781,353
Ensembl chrNW_004936598:1,779,471...1,781,353
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G |
LOC101966992 |
cytochrome b-245 heavy chain |
treatment |
ISO |
associated with Anoxia |
RGD |
PMID:18424632 PMID:18952568 |
RGD:4762683 RGD:4773907 |
NCBI chrNW_004936502:4,631,750...4,676,686
Ensembl chrNW_004936502:4,635,149...4,676,904
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G |
LOC101967032 |
cytochrome b-245 light chain |
|
ISO |
associated with Anoxia;mRNA, protein:increased expression:lung |
RGD |
PMID:18424632 PMID:18952568 |
RGD:4762683 RGD:4773907 |
NCBI chrNW_004936641:1,036,967...1,044,954
Ensembl chrNW_004936641:1,036,967...1,044,991
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G |
LOC101968921 |
angiotensin-converting enzyme |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12359135 |
|
NCBI chrNW_004936541:4,157,847...4,178,156
Ensembl chrNW_004936541:4,157,393...4,178,177
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G |
LOC101969148 |
cytochrome P450 1A1 |
|
ISO |
mRNA,protein:increased expression:lung |
RGD |
PMID:28956952 |
RGD:13702097 |
NCBI chrNW_004936471:33,682,730...33,688,332
Ensembl chrNW_004936471:33,682,730...33,688,332
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G |
LOC101976500 |
haptoglobin |
treatment |
ISO |
protein:decreased expression:serum |
RGD |
PMID:2043024 PMID:19023114 PMID:19703762 PMID:25656991 |
RGD:11041794 RGD:1626353 RGD:5147420 RGD:5147440 |
NCBI chrNW_004936475:21,841,054...21,845,821
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G |
LOC101976824 |
nuclear factor of activated T cells 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17596340 PMID:27522126 |
RGD:1627651 |
NCBI chrNW_004936514:3,453,475...3,579,292
Ensembl chrNW_004936514:3,467,178...3,578,882
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G |
Lox |
lysyl oxidase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24614111 |
|
NCBI chrNW_004936575:2,526,067...2,533,996
Ensembl chrNW_004936575:2,524,342...2,533,559
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G |
Mapk1 |
mitogen-activated protein kinase 1 |
treatment |
ISO |
|
RGD |
PMID:25907942 |
RGD:13800893 |
NCBI chrNW_004936619:1,889,841...1,932,646
Ensembl chrNW_004936619:1,889,708...1,932,646
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G |
Mapk3 |
mitogen-activated protein kinase 3 |
treatment |
ISO |
|
RGD |
PMID:25907942 |
RGD:13800893 |
NCBI chrNW_004936501:12,342,670...12,390,650
Ensembl chrNW_004936501:12,384,804...12,392,180
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G |
Mfn1 |
mitofusin 1 |
|
ISO |
protein:decreased expression:heart right ventricle (rat) |
RGD |
PMID:27422986 |
RGD:12910832 |
NCBI chrNW_004936566:3,737,315...3,775,894
Ensembl chrNW_004936566:3,737,315...3,775,693
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G |
Mif |
macrophage migration inhibitory factor |
|
ISO |
associated with sclerodema, systemic; protein:increased expression:serum |
RGD |
PMID:18618071 |
RGD:4891006 |
NCBI chrNW_004936619:1,207,058...1,208,010
Ensembl chrNW_004936619:1,203,746...1,208,442
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G |
Mmp1 |
matrix metallopeptidase 1 |
|
ISO |
|
RGD |
PMID:23087098 |
RGD:7207217 |
NCBI chrNW_004936551:5,167,909...5,175,149
Ensembl chrNW_004936551:5,168,044...5,174,857
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G |
Mmp9 |
matrix metallopeptidase 9 |
severity |
ISO |
associated with Heart Failure, Congestive;protein:decreased expression:monocyte associated with Pulmonary Embolism;protein:increased expression:lung, plasma |
RGD |
PMID:16867026 PMID:17133179 PMID:18355767 PMID:21063214 PMID:23087098 |
RGD:1642028 RGD:1642053 RGD:5129210 RGD:5130155 RGD:7207217 |
NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793
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G |
Mtor |
mechanistic target of rapamycin kinase |
|
ISO |
|
RGD |
PMID:23470622 |
RGD:10041039 |
NCBI chrNW_004936474:158,376...282,310
Ensembl chrNW_004936474:157,590...282,342
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|
G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
treatment |
ISO |
|
RGD |
PMID:22306243 |
RGD:7240564 |
NCBI chrNW_004936470:20,480,844...20,485,955
Ensembl chrNW_004936470:20,480,829...20,485,965
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|
G |
Nampt |
nicotinamide phosphoribosyltransferase |
susceptibility |
ISO |
mRNA,protein:increased expression:lung,pulmonary arterial endothelial cell: protein:increased expression:lung: |
RGD |
PMID:28202489 |
RGD:13781882 |
NCBI chrNW_004936479:17,682,070...17,716,713
Ensembl chrNW_004936479:17,682,201...17,716,661
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G |
Nos2 |
nitric oxide synthase 2 |
onset |
ISO |
associated with heart disease; protein:increased expression:endothelial cell associated with Congenital diaphragmatic hernia; protein:decreased expression:pulmonary artery, endothelium associated with Anoxia; mouse gene in rat model associated with Anoxia; protein:increased expression:pulmonary artery associated with Scleroderma, Systemic; DNA:repeats, SNPs:promoter:(CCTTT), c.-1026C>T, c.-277A>G (human) |
RGD |
PMID:11104748 PMID:16113050 PMID:16456243 PMID:16813666 PMID:19912632 |
RGD:1580936 RGD:1580940 RGD:4891462 RGD:4891468 RGD:5132602 |
NCBI chrNW_004936538:4,052,277...4,097,051
Ensembl chrNW_004936538:4,052,448...4,097,051
|
|
G |
Nos3 |
nitric oxide synthase 3 |
treatment susceptibility |
ISO |
associated with chronic obstructive pulmonary disease; DNA:polymorphism:cds:p.G894T (human) mRNA, protein:increased expression:pulmonary endothelial cell DNA:polymorphism:cds:p.E298D (human) RNA:increased expression:lung CTD Direct Evidence: marker/mechanism associated with Beta-Thalassemia;DNA:repeats:intron: associated with heart disease; protein:increased expression:endothelial cell protein:increased expression:arteriole |
RGD CTD |
PMID:11686901 PMID:17065228 PMID:18953956 PMID:19487814 PMID:19912632 PMID:20215577 PMID:20724942 PMID:21111729 PMID:21144100 PMID:25699607 PMID:29151278 More...
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RGD:11533642 RGD:13504742 RGD:4892004 RGD:4892009 RGD:4892010 RGD:4892038 RGD:4892039 RGD:4892042 RGD:4892043 RGD:5132602 RGD:5132631 |
NCBI chrNW_004936527:6,427,147...6,445,770
Ensembl chrNW_004936527:6,427,093...6,446,534
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Notch1 |
notch receptor 1 |
ameliorates |
ISO |
|
RGD |
PMID:34739767 |
RGD:155646132 |
NCBI chrNW_004936669:1,292,016...1,334,061
Ensembl chrNW_004936669:1,292,088...1,332,428
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G |
Nox1 |
NADPH oxidase 1 |
ameliorates treatment |
ISO |
mRNA,protein:increased expression:lung |
RGD |
PMID:23706097 PMID:24233492 PMID:27401289 |
RGD:329955359 RGD:329955361 RGD:329955579 |
NCBI chrNW_004936584:6,023,960...6,040,041
Ensembl chrNW_004936584:6,024,008...6,039,866
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Nox4 |
NADPH oxidase 4 |
|
ISO |
associated with Anoxia;mRNA, protein:increased expression:lung |
RGD |
PMID:18952568 |
RGD:4762683 |
NCBI chrNW_004936736:230,465...394,859
Ensembl chrNW_004936736:230,476...396,708
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Nppa |
natriuretic peptide A |
|
ISO |
|
RGD |
PMID:2136863 |
RGD:7247720 |
NCBI chrNW_004936474:671,362...673,610
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Nppb |
natriuretic peptide B |
severity |
ISO |
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:16893710 PMID:16936438 PMID:20408845 PMID:21351102 |
RGD:1642203 RGD:1642205 |
NCBI chrNW_004936474:683,325...684,662
Ensembl chrNW_004936474:683,325...684,665
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G |
Pde3a |
phosphodiesterase 3A |
|
ISO |
mRNA:increased expression:pulmonary artery |
RGD |
PMID:12466227 |
RGD:1582528 |
NCBI chrNW_004936548:5,758,634...6,072,195
Ensembl chrNW_004936548:5,762,507...6,070,576
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Pde5a |
phosphodiesterase 5A |
|
ISO |
|
RGD |
PMID:19881228 |
RGD:2314460 |
NCBI chrNW_004936869:24,265...117,120
Ensembl chrNW_004936869:39,122...117,127
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Pdgfa |
platelet derived growth factor subunit A |
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ISO |
|
RGD |
PMID:8447423 |
RGD:1580847 |
NCBI chrNW_004936754:808,894...828,554
Ensembl chrNW_004936754:808,213...828,613
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Pdgfb |
platelet derived growth factor subunit B |
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ISO |
|
RGD |
PMID:8447423 PMID:21819559 PMID:22523431 |
RGD:1580847 RGD:6482831 RGD:6482859 |
NCBI chrNW_004936492:2,353,840...2,368,573
Ensembl chrNW_004936492:2,353,841...2,368,573
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Pdia3 |
protein disulfide isomerase family A member 3 |
|
ISO |
protein:increased expression:lung: |
RGD |
PMID:23315792 |
RGD:9999167 |
NCBI chrNW_004936471:6,809,181...6,834,189
Ensembl chrNW_004936471:6,809,195...6,836,169
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Pecam1 |
platelet and endothelial cell adhesion molecule 1 |
treatment |
ISO |
|
RGD |
PMID:22559233 |
RGD:10400914 |
NCBI chrNW_004936541:4,873,459...4,919,787
Ensembl chrNW_004936541:4,873,182...4,937,500
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G |
Pgf |
placental growth factor |
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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 chrNW_004936488:4,098,187...4,111,108
Ensembl chrNW_004936488:4,098,225...4,111,142
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G |
Prkg1 |
protein kinase cGMP-dependent 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21351102 |
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NCBI chrNW_004936787:330,390...1,491,994
Ensembl chrNW_004936787:332,342...1,491,285
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G |
Ptgis |
prostaglandin I2 synthase |
susceptibility treatment |
ISO |
rat gene in a mouse model protein:decreased expression:pulmonary artery (human) human gene in a rat model |
RGD |
PMID:10359560 PMID:12019369 PMID:15684702 PMID:32673988 |
RGD:1580695 RGD:401959405 RGD:401960100 RGD:727270 |
NCBI chrNW_004936514:4,775,884...4,814,574
Ensembl chrNW_004936514:4,791,031...4,812,027
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Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
anoxia associated; |
RGD |
PMID:18542928 PMID:19577709 |
RGD:2300276 RGD:5135495 |
NCBI chrNW_004936481:3,821,564...3,828,086
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Ptk2 |
protein tyrosine kinase 2 |
|
ISO |
|
RGD |
PMID:16244766 |
RGD:1581290 |
NCBI chrNW_004936470:10,379,855...10,578,531
Ensembl chrNW_004936470:10,379,872...10,578,543
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G |
Ramp2 |
receptor activity modifying protein 2 |
|
ISO |
mRNA:increased expression:heart right ventricle |
RGD |
PMID:17437045 |
RGD:1642678 |
NCBI chrNW_004936490:17,479,899...17,481,788
Ensembl chrNW_004936490:17,479,650...17,482,716
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G |
Rela |
RELA proto-oncogene, NF-kB subunit |
|
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 chrNW_004936599:3,800,142...3,810,583
Ensembl chrNW_004936599:3,801,636...3,809,813
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G |
Rhoa |
ras homolog family member A |
|
ISO |
protein:altered localization:membrane, artery, lung protein:altered localization:pulmonary artery |
RGD |
PMID:16322374 PMID:18091588 |
RGD:1642819 RGD:2298877 |
NCBI chrNW_004936529:1,000,050...1,045,655
Ensembl chrNW_004936529:999,935...1,045,681
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Ryr1 |
ryanodine receptor 1 |
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ISO |
protein:altered localization: : |
RGD |
PMID:24692174 |
RGD:329813077 |
NCBI chrNW_004936801:1,185,615...1,298,416
Ensembl chrNW_004936801:1,185,733...1,298,289
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G |
Ryr2 |
ryanodine receptor 2 |
|
ISO |
protein:increased expression:pulmonary artery |
RGD |
PMID:22962011 |
RGD:329813078 |
NCBI chrNW_004936484:15,402,488...15,825,410
Ensembl chrNW_004936484:15,403,819...15,824,441
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G |
Ryr3 |
ryanodine receptor 3 |
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ISO |
protein:altered localization: : |
RGD |
PMID:24692174 |
RGD:329813077 |
NCBI chrNW_004936673:2,078,095...2,434,872
Ensembl chrNW_004936673:1,932,755...2,434,066
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Serpine1 |
serpin family E member 1 |
treatment |
ISO |
DNA:polymorphism:3'utr mRNA, protein:decreased expression:lung |
RGD |
PMID:18337154 PMID:20300292 PMID:27115515 |
RGD:11073610 RGD:4143527 RGD:4143529 |
NCBI chrNW_004936543:1,032,543...1,040,956
Ensembl chrNW_004936543:1,032,794...1,039,123
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G |
Slc1a5 |
solute carrier family 1 member 5 |
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ISO |
protein:increased expression:myocytes plasma membrane, right ventricle |
RGD |
PMID:23794090 |
RGD:151361111 |
NCBI chrNW_004936664:599,012...610,689
Ensembl chrNW_004936664:598,468...610,698
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Slc2a4 |
solute carrier family 2 member 4 |
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ISO |
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RGD |
PMID:19043358 |
RGD:2313622 |
NCBI chrNW_004936595:567,267...574,051
Ensembl chrNW_004936595:567,219...574,059
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G |
Slc31a1 |
solute carrier family 31 member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24614111 |
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NCBI chrNW_004936559:333,461...364,737
Ensembl chrNW_004936559:331,917...364,852
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G |
Slc6a4 |
solute carrier family 6 member 4 |
onset no_association severity |
ISO |
DNA:repeat:promoter (human) DNA:polymorphism, repeat:promoter, intron (human) associated with Anoxia associated with Heart Septal Defects, Ventricular;DNA:polymorphisms (human) CTD Direct Evidence: marker/mechanism associated with Pulmonary Disease, Chronic Obstructive;DNA:polymorphism (human) |
RGD CTD |
PMID:11259539 PMID:16339917 PMID:16399993 PMID:18074800 PMID:18506000 PMID:19473340 PMID:19556740 PMID:19736308 PMID:19886858 More...
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RGD:4889430 RGD:4889432 RGD:4889434 RGD:4889435 RGD:4889437 RGD:4889440 RGD:4889442 RGD:4889445 |
NCBI chrNW_004936538:6,205,268...6,239,062
Ensembl chrNW_004936538:6,205,251...6,239,083
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G |
Slc8a1 |
solute carrier family 8 member A1 |
|
ISO |
protein:increased expression:pulmonary artery, smooth muscle cell |
RGD |
PMID:17192285 |
RGD:1642711 |
NCBI chrNW_004936508:10,894,918...11,256,084
Ensembl chrNW_004936508:10,968,656...11,253,070
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G |
Smad1 |
SMAD family member 1 |
|
ISO |
protein:decreased phosphorylation:lung, vascular associated smooth muscle cell protein:decreased expression, increased phosphorylation:lung |
RGD |
PMID:17347486 PMID:18367643 |
RGD:12903274 RGD:1643222 |
NCBI chrNW_004936535:3,582,512...3,626,312
Ensembl chrNW_004936535:3,582,489...3,657,063
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G |
Smad4 |
SMAD family member 4 |
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ISO |
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RGD |
PMID:17347486 PMID:18367643 |
RGD:12903274 RGD:1643222 |
NCBI chrNW_004936497:12,242,869...12,278,012
Ensembl chrNW_004936497:12,249,140...12,278,123
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G |
Smad6 |
SMAD family member 6 |
|
ISO |
mRNA:decreased expression:lung |
RGD |
PMID:17347486 |
RGD:1643222 |
NCBI chrNW_004936471:26,781,420...26,856,556
Ensembl chrNW_004936471:26,781,549...26,856,571
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G |
Smad7 |
SMAD family member 7 |
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ISO |
|
RGD |
PMID:17347486 |
RGD:1643222 |
NCBI chrNW_004936497:13,894,586...13,921,978
Ensembl chrNW_004936497:13,894,580...13,922,065
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G |
Smad9 |
SMAD family member 9 |
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ISO |
|
RGD |
PMID:17347486 |
RGD:1643222 |
NCBI chrNW_004936472:30,980,850...31,050,138
Ensembl chrNW_004936472:30,980,928...31,049,618
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Smpd3 |
sphingomyelin phosphodiesterase 3 |
treatment |
ISO |
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RGD |
PMID:19088082 |
RGD:10042965 |
NCBI chrNW_004936475:18,667,563...18,755,132
Ensembl chrNW_004936475:18,671,428...18,755,208
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G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20110409 |
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NCBI chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781
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G |
Sox17 |
SRY-box transcription factor 17 |
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ISO |
protein:decreased expression:lung (rat) |
RGD |
PMID:36913491 |
RGD:329853317 |
NCBI chrNW_004936496:1,248,582...1,251,406
Ensembl chrNW_004936496:1,248,577...1,251,430
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G |
Tac1 |
tachykinin precursor 1 |
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ISO |
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RGD |
PMID:12662901 |
RGD:5147638 |
NCBI chrNW_004936585:2,932,783...2,941,141
Ensembl chrNW_004936585:2,932,727...2,941,384
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G |
Tacr1 |
tachykinin receptor 1 |
|
ISO |
|
RGD |
PMID:12662901 |
RGD:5147638 |
NCBI chrNW_004936556:1,266,621...1,421,271
Ensembl chrNW_004936556:1,266,613...1,421,275
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G |
Tacr2 |
tachykinin receptor 2 |
|
ISO |
|
RGD |
PMID:12662901 |
RGD:5147638 |
NCBI chrNW_004936521:9,053,179...9,065,790
Ensembl chrNW_004936521:9,053,179...9,065,797
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G |
Tek |
TEK receptor tyrosine kinase |
|
ISO |
mRNA, protein:increased expression:lung |
RGD |
PMID:16917117 |
RGD:1601487 |
NCBI chrNW_004936611:2,420,176...2,531,726
Ensembl chrNW_004936611:2,420,172...2,531,722
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Tert |
telomerase reverse transcriptase |
treatment |
ISO |
|
RGD |
PMID:24376652 |
RGD:11038675 |
NCBI chrNW_004936815:468,987...492,666
Ensembl chrNW_004936815:469,020...491,697
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Tgfa |
transforming growth factor alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18424623 |
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NCBI chrNW_004936491:14,659,089...14,758,614
Ensembl chrNW_004936491:14,657,100...14,758,848
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G |
Tgfb1 |
transforming growth factor beta 1 |
onset |
ISO |
protein:increased expression:blood DNA:SNPs: :multiple (human) |
RGD |
PMID:18496036 PMID:19324949 |
RGD:4145138 RGD:4145273 |
NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272
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Tgfbr1 |
transforming growth factor beta receptor 1 |
|
ISO |
|
RGD |
PMID:18202349 |
RGD:2302019 |
NCBI chrNW_004936524:7,656,523...7,680,043
Ensembl chrNW_004936524:7,655,847...7,681,097
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G |
Tgfbr2 |
transforming growth factor beta receptor 2 |
|
ISO |
mRNA:decreased expression:lung |
RGD |
PMID:17392319 |
RGD:1601116 |
NCBI chrNW_004936473:21,324,669...21,409,430
Ensembl chrNW_004936473:21,324,658...21,409,430
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Thbd |
thrombomodulin |
|
ISO |
associated with Mixed Connective Tissue Disease |
RGD |
PMID:16784493 |
RGD:1601639 |
NCBI chrNW_004936620:2,563,900...2,568,117
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G |
Thpo |
thrombopoietin |
|
ISO |
protein:increased expression:pulmonary artery, plasma |
RGD |
PMID:12487786 |
RGD:1580087 |
NCBI chrNW_004936578:5,508,669...5,515,984
Ensembl chrNW_004936578:5,509,111...5,515,103
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Tlr4 |
toll like receptor 4 |
|
ISO |
associated with anoxia |
RGD |
PMID:20205596 |
RGD:4144108 |
NCBI chrNW_004936487:6,519,140...6,532,018
Ensembl chrNW_004936487:6,518,441...6,533,095
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Tnc |
tenascin C |
severity |
ISO |
protein:increased expression:plasma |
RGD |
PMID:15879421 PMID:16782755 PMID:19288153 PMID:20528622 |
RGD:4889562 RGD:4889564 RGD:4889567 RGD:4889570 |
NCBI chrNW_004936487:4,172,263...4,256,780
Ensembl chrNW_004936487:4,172,886...4,233,126
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Tnf |
tumor necrosis factor |
|
ISO |
associated with Pulmonary Edema; protein:increased expression:Bronchoalveolar Lavage Fluid CTD Direct Evidence: therapeutic associated with pulmonary disease, chronic obstructive; protein:increased expression:serum |
RGD CTD |
PMID:2518282 PMID:9628235 PMID:12391106 PMID:16899829 |
RGD:4142833 RGD:4143280 RGD:4143422 |
NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
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Tp53 |
tumor protein p53 |
treatment |
ISO |
|
RGD |
PMID:24334871 |
RGD:10043360 |
NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425
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Tp53bp1 |
tumor protein p53 binding protein 1 |
|
ISO |
protein:increased expression:lung |
RGD |
PMID:24270264 |
RGD:9586752 |
NCBI chrNW_004936471:6,589,395...6,668,242
Ensembl chrNW_004936471:6,589,564...6,668,305
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G |
Tph1 |
tryptophan hydroxylase 1 |
severity |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17675372 PMID:18506000 |
RGD:5686352 |
NCBI chrNW_004936528:1,090,529...1,116,081
Ensembl chrNW_004936528:1,096,352...1,115,688
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G |
Tph2 |
tryptophan hydroxylase 2 |
severity |
ISO |
DNA:SNP: :1473C>G (mouse) |
RGD |
PMID:17675372 |
RGD:5686352 |
NCBI chrNW_004936568:974,575...1,065,800
Ensembl chrNW_004936568:974,767...1,065,804
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Trpc3 |
transient receptor potential cation channel subfamily C member 3 |
|
ISO |
|
RGD |
PMID:15358862 |
RGD:1580490 |
NCBI chrNW_004936662:1,130,555...1,171,352
Ensembl chrNW_004936662:1,129,278...1,171,378
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Trpc6 |
transient receptor potential cation channel subfamily C member 6 |
|
ISO |
|
RGD |
PMID:15358862 |
RGD:1580490 |
NCBI chrNW_004936551:6,173,588...6,282,971
Ensembl chrNW_004936551:6,174,122...6,282,925
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Trpv4 |
transient receptor potential cation channel subfamily V member 4 |
|
ISO |
protein:increased expression:pulmonary artery |
RGD |
PMID:22962011 |
RGD:329813078 |
NCBI chrNW_004936769:1,424,526...1,447,547
Ensembl chrNW_004936769:1,424,549...1,447,516
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Twist1 |
twist family bHLH transcription factor 1 |
treatment |
ISO |
|
RGD |
PMID:25593290 |
RGD:38500244 |
NCBI chrNW_004936546:5,331,220...5,332,669
Ensembl chrNW_004936546:5,331,863...5,332,555
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Uts2 |
urotensin 2 |
|
ISO |
|
RGD |
PMID:15042392 |
RGD:2306848 |
NCBI chrNW_004936623:2,339,259...2,345,717
Ensembl chrNW_004936623:2,340,778...2,345,700
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G |
Vcam1 |
vascular cell adhesion molecule 1 |
|
ISO |
protein:increased expression:blood vessel endothelium |
RGD |
PMID:17934115 |
RGD:2298843 |
NCBI chrNW_004936748:785,491...802,791
Ensembl chrNW_004936748:785,455...803,048
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G |
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 chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673
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Vegfb |
vascular endothelial growth factor B |
|
ISO |
|
RGD |
PMID:12547729 |
RGD:1625708 |
NCBI chrNW_004936599:4,963,161...4,966,258
Ensembl chrNW_004936599:4,962,222...4,966,264
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Vim |
vimentin |
|
ISO |
protein:increased expression, increased phosphorylation:lung |
RGD |
PMID:25593290 |
RGD:38500244 |
NCBI chrNW_004936520:10,051,692...10,059,324
Ensembl chrNW_004936520:10,052,012...10,059,182
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Vip |
vasoactive intestinal peptide |
|
ISO |
|
RGD |
PMID:22140628 |
RGD:5685374 |
NCBI chrNW_004936489:5,425,778...5,434,483
Ensembl chrNW_004936489:5,425,726...5,434,785
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G |
Vwf |
von Willebrand factor |
|
ISO |
|
RGD |
PMID:14507115 |
RGD:1580645 |
NCBI chrNW_004936709:1,578,137...1,741,877
Ensembl chrNW_004936709:1,579,096...1,741,754
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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 chrNW_004936704:747,109...766,981
Ensembl chrNW_004936704:746,775...771,305
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G |
Sars2 |
seryl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME | ClinVar Annotator: match by term: Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:21255763 PMID:24034276 PMID:25741868 PMID:27279129 PMID:28492532 PMID:31607746 PMID:33751860 More...
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NCBI chrNW_004936661:1,861,646...1,871,707
Ensembl chrNW_004936661:1,861,646...1,871,687
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Cps1 |
carbamoyl-phosphate synthase 1 |
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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: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 More...
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NCBI chrNW_004936586:5,739,038...5,850,317
Ensembl chrNW_004936586:5,739,337...5,850,312
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Adad2 |
adenosine deaminase domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia |
ClinVar |
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NCBI chrNW_004936641:3,641,123...3,645,624
Ensembl chrNW_004936641:3,641,215...3,645,742
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Atp2c2 |
ATPase secretory pathway Ca2+ transporting 2 |
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ISO |
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia |
ClinVar |
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NCBI chrNW_004936641:3,498,693...3,547,968
Ensembl chrNW_004936641:3,498,693...3,547,968
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Cibar2 |
CBY1 interacting BAR domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia |
ClinVar |
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NCBI chrNW_004936641:3,099,616...3,109,969
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Cotl1 |
coactosin like F-actin binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia |
ClinVar |
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NCBI chrNW_004936641:3,422,734...3,458,830
Ensembl chrNW_004936641:3,423,144...3,455,432
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Cps1 |
carbamoyl-phosphate synthase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism CACD, OMIM:265380, DNA:polymorphism:T1405N |
CTD RGD |
PMID:11407344 |
RGD:1600716 |
NCBI chrNW_004936586:5,739,038...5,850,317
Ensembl chrNW_004936586:5,739,337...5,850,312
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Crispld2 |
cysteine rich secretory protein LCCL domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia |
ClinVar |
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NCBI chrNW_004936641:3,228,791...3,277,379
Ensembl chrNW_004936641:3,228,762...3,277,427
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CUNH16orf74 |
chromosome unknown C16orf74 homolog |
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ISO |
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia |
ClinVar |
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NCBI chrNW_004936641:2,730,252...2,752,176
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CUNH16orf95 |
chromosome unknown C16orf95 homolog |
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ISO |
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia |
ClinVar |
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NCBI chrNW_004936641:1,843,874...1,850,488
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Dnaaf1 |
dynein axonemal assembly factor 1 |
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ISO |
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia |
ClinVar |
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NCBI chrNW_004936641:3,656,331...3,674,907
Ensembl chrNW_004936641:3,657,058...3,673,729
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Emc8 |
ER membrane protein complex subunit 8 |
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ISO |
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia |
ClinVar |
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NCBI chrNW_004936641:2,696,184...2,710,141
Ensembl chrNW_004936641:2,696,178...2,710,180
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Fbxo31 |
F-box protein 31 |
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ISO |
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia |
ClinVar |
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NCBI chrNW_004936641:1,801,539...1,831,988
Ensembl chrNW_004936641:1,801,548...1,830,440
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Foxc2 |
forkhead box C2 |
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ISO |
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia |
ClinVar |
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NCBI chrNW_004936641:2,236,224...2,238,501
Ensembl chrNW_004936641:2,236,873...2,238,375
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Foxf1 |
forkhead box F1 |
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ISO |
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 ClinVar |
PMID:15520767 PMID:19500772 PMID:23505205 PMID:24033266 PMID:25741868 PMID:27071622 PMID:27439648 PMID:28469849 PMID:28492532 PMID:30380203 More...
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NCBI chrNW_004943883:4...1,756
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Foxl1 |
forkhead box L1 |
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ISO |
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia |
ClinVar |
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NCBI chrNW_004936641:2,226,489...2,227,613
Ensembl chrNW_004936641:2,226,550...2,227,578
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Gins2 |
GINS complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia |
ClinVar |
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NCBI chrNW_004936641:2,757,150...2,775,904
Ensembl chrNW_004936641:2,757,150...2,776,681
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Gse1 |
Gse1 coiled-coil protein |
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ISO |
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia |
ClinVar |
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NCBI chrNW_004936641:2,779,521...2,920,840
Ensembl chrNW_004936641:2,776,714...2,862,484
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Hsdl1 |
hydroxysteroid dehydrogenase like 1 |
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ISO |
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia |
ClinVar |
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NCBI chrNW_004936641:3,674,575...3,692,175
Ensembl chrNW_004936641:3,681,960...3,693,063
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Irf8 |
interferon regulatory factor 8 |
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ISO |
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia |
ClinVar |
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NCBI chrNW_004936641:2,608,109...2,622,446
Ensembl chrNW_004936641:2,608,100...2,622,409
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Itgam |
integrin subunit alpha M |
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ISO |
DNA:missense mutation:CDS:p.E1071D (human) |
RGD |
PMID:32054482 |
RGD:329853760 |
NCBI chrNW_004936543:8,460,526...8,508,524
Ensembl chrNW_004936543:8,461,307...8,508,524
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Jph3 |
junctophilin 3 |
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ISO |
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia |
ClinVar |
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NCBI chrNW_004936641:1,619,640...1,668,480
Ensembl chrNW_004936641:1,620,652...1,668,486
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Kcng4 |
potassium voltage-gated channel modifier subfamily G member 4 |
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ISO |
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia |
ClinVar |
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NCBI chrNW_004936641:3,618,756...3,633,505
Ensembl chrNW_004936641:3,618,906...3,630,033
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Kiaa0513 |
KIAA0513 ortholog |
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ISO |
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia |
ClinVar |
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NCBI chrNW_004936641:3,113,634...3,167,019
Ensembl chrNW_004936641:3,113,634...3,132,062
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Klhl36 |
kelch like family member 36 |
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ISO |
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia |
ClinVar |
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NCBI chrNW_004936641:3,392,253...3,403,575
Ensembl chrNW_004936641:3,388,887...3,403,581
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LOC101971634 |
cytochrome c oxidase subunit 4 isoform 1, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia |
ClinVar |
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NCBI chrNW_004936641:2,690,723...2,695,230
Ensembl chrNW_004936641:2,690,176...2,695,387
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G |
Mbtps1 |
membrane bound transcription factor peptidase, site 1 |
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ISO |
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia |
ClinVar |
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NCBI chrNW_004936641:3,696,506...3,751,558
Ensembl chrNW_004936641:3,696,536...3,751,598
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G |
Meak7 |
MTOR associated protein, eak-7 homolog |
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ISO |
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia |
ClinVar |
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NCBI chrNW_004936641:3,490,531...3,498,615
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Mlycd |
malonyl-CoA decarboxylase |
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ISO |
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia |
ClinVar |
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NCBI chrNW_004936641:3,836,418...3,846,485
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Mthfsd |
methenyltetrahydrofolate synthetase domain containing |
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ISO |
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia |
ClinVar |
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NCBI chrNW_004936641:2,245,752...2,259,989
Ensembl chrNW_004936641:2,247,221...2,262,259
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G |
Necab2 |
N-terminal EF-hand calcium binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia |
ClinVar |
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NCBI chrNW_004936641:3,779,024...3,802,883
Ensembl chrNW_004936641:3,779,374...3,799,581
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G |
Nos3 |
nitric oxide synthase 3 |
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ISO |
OMIM:265380 |
MouseDO |
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NCBI chrNW_004936527:6,427,147...6,445,770
Ensembl chrNW_004936527:6,427,093...6,446,534
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Osgin1 |
oxidative stress induced growth inhibitor 1 |
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ISO |
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia |
ClinVar |
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NCBI chrNW_004936641:3,803,799...3,812,995
Ensembl chrNW_004936641:3,803,767...3,813,041
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Pten |
phosphatase and tensin homolog |
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ISO |
OMIM:265380 |
MouseDO |
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NCBI chrNW_004936735:1,252,414...1,338,318
Ensembl chrNW_004936735:1,252,414...1,338,323
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G |
Slc38a8 |
solute carrier family 38 member 8 |
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ISO |
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia |
ClinVar |
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NCBI chrNW_004936641:3,757,107...3,778,939
Ensembl chrNW_004936641:3,757,130...3,774,098
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G |
Stra6 |
signaling receptor and transporter of retinol STRA6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17273977 |
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NCBI chrNW_004936471:33,224,174...33,245,076
Ensembl chrNW_004936471:33,224,859...33,245,030
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G |
Taf1c |
TATA-box binding protein associated factor, RNA polymerase I subunit C |
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ISO |
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia |
ClinVar |
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NCBI chrNW_004936641:3,649,177...3,653,798
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Usp10 |
ubiquitin specific peptidase 10 |
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ISO |
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia |
ClinVar |
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NCBI chrNW_004936641:3,308,121...3,350,476
Ensembl chrNW_004936641:3,307,931...3,350,517
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G |
Zcchc14 |
zinc finger CCHC-type containing 14 |
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ISO |
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia |
ClinVar |
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NCBI chrNW_004936641:1,728,596...1,783,710
Ensembl chrNW_004936641:1,728,592...1,781,896
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G |
Zdhhc7 |
zinc finger DHHC-type palmitoyltransferase 7 |
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ISO |
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia |
ClinVar |
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NCBI chrNW_004936641:3,175,338...3,199,487
Ensembl chrNW_004936641:3,175,338...3,199,484
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Abi2 |
abl interactor 2 |
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ISO |
ClinVar Annotator: match by term: Primary pulmonary hypertension |
ClinVar |
PMID:28492532 PMID:31727138 |
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NCBI chrNW_004936631:30,109...101,748
Ensembl chrNW_004936631:30,199...98,511
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G |
Acadl |
acyl-CoA dehydrogenase long chain |
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ISO |
ClinVar Annotator: match by term: Primary pulmonary hypertension |
ClinVar |
PMID:28492532 PMID:31727138 |
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NCBI chrNW_004936845:66,674...96,248
Ensembl chrNW_004936845:66,241...96,249
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G |
Acvrl1 |
activin A receptor like type 1 |
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ISO |
ClinVar Annotator: match by term: Heritable pulmonary arterial hypertension |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31727138 |
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NCBI chrNW_004936512:9,364,551...9,379,131
Ensembl chrNW_004936512:9,364,149...9,379,431
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Adam23 |
ADAM metallopeptidase domain 23 |
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ISO |
ClinVar Annotator: match by term: Primary pulmonary hypertension |
ClinVar |
PMID:28492532 PMID:31727138 |
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NCBI chrNW_004936631:2,777,595...2,946,191
Ensembl chrNW_004936631:2,778,849...2,946,187
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G |
Adora2a |
adenosine A2a receptor |
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ISO |
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 |
MouseDO |
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NCBI chrNW_004936619:597,970...618,564
Ensembl chrNW_004936619:608,441...616,779
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Als2 |
alsin Rho guanine nucleotide exchange factor ALS2 |
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ISO |
ClinVar Annotator: match by term: Primary pulmonary hypertension |
ClinVar |
PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074 |
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NCBI chrNW_004936726:940,696...1,015,771
Ensembl chrNW_004936726:939,341...1,015,799
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G |
Bmpr1b |
bone morphogenetic protein receptor type 1B |
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ISO |
ClinVar Annotator: match by term: Idiopathic pulmonary arterial hypertension |
ClinVar |
PMID:22374147 PMID:25741868 PMID:25758993 PMID:28492532 |
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NCBI chrNW_004936687:2,346,601...2,595,283
Ensembl chrNW_004936687:2,503,777...2,597,522
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G |
Bmpr2 |
bone morphogenetic protein receptor type 2 |
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ISO |
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 | ClinVar Annotator: match by term: Pulmonary hypertension, primary, fenfluramine-associated |
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: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:24936649 PMID:25187962 PMID:25429696 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:30957726 PMID:31727138 PMID:31797984 PMID:32368696 PMID:32581362 PMID:33066286 PMID:34400635 More...
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NCBI chrNW_004936726:1,543,263...1,711,422
Ensembl chrNW_004936726:1,543,245...1,704,541
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G |
Carf |
calcium responsive transcription factor |
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ISO |
ClinVar Annotator: match by term: Primary pulmonary hypertension |
ClinVar |
PMID:28492532 PMID:31727138 |
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NCBI chrNW_004936726:1,958,561...2,010,972
Ensembl chrNW_004936726:1,922,060...2,010,981
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G |
Cav1 |
caveolin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chrNW_004936589:2,504,235...2,536,778
Ensembl chrNW_004936589:2,504,224...2,537,170
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G |
Ccnyl1 |
cyclin Y like 1 |
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ISO |
ClinVar Annotator: match by term: Primary pulmonary hypertension |
ClinVar |
PMID:28492532 PMID:31727138 |
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NCBI chrNW_004936631:3,867,403...3,905,423
Ensembl chrNW_004936631:3,867,407...3,904,997
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G |
Cd28 |
CD28 molecule |
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ISO |
ClinVar Annotator: match by term: Primary pulmonary hypertension |
ClinVar |
PMID:28492532 PMID:31727138 |
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NCBI chrNW_004936631:335,411...363,407
Ensembl chrNW_004936631:335,411...363,407
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G |
Cdk15 |
cyclin dependent kinase 15 |
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ISO |
ClinVar Annotator: match by term: Primary pulmonary hypertension |
ClinVar |
PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074 |
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NCBI chrNW_004936726:1,037,614...1,129,961
Ensembl chrNW_004936726:1,037,636...1,130,571
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G |
Cmklr2 |
chemerin chemokine-like receptor 2 |
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ISO |
ClinVar Annotator: match by term: Primary pulmonary hypertension |
ClinVar |
PMID:28492532 PMID:31727138 |
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NCBI chrNW_004936631:2,544,951...2,580,306
Ensembl chrNW_004936631:2,545,241...2,546,308
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G |
Cpo |
carboxypeptidase O |
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ISO |
ClinVar Annotator: match by term: Primary pulmonary hypertension |
ClinVar |
PMID:28492532 PMID:31727138 |
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NCBI chrNW_004936631:3,219,512...3,243,462
Ensembl chrNW_004936631:3,219,512...3,243,462
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G |
Cps1 |
carbamoyl-phosphate synthase 1 |
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ISO |
ClinVar Annotator: match by term: Primary pulmonary hypertension |
ClinVar |
PMID:28492532 PMID:31727138 |
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NCBI chrNW_004936586:5,739,038...5,850,317
Ensembl chrNW_004936586:5,739,337...5,850,312
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G |
Creb1 |
cAMP responsive element binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Primary pulmonary hypertension |
ClinVar |
PMID:28492532 PMID:31727138 |
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NCBI chrNW_004936631:3,721,307...3,785,346
Ensembl chrNW_004936631:3,721,313...3,780,892
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G |
Ctla4 |
cytotoxic T-lymphocyte associated protein 4 |
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ISO |
ClinVar Annotator: match by term: Primary pulmonary hypertension |
ClinVar |
PMID:28492532 PMID:31727138 |
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NCBI chrNW_004936631:484,356...489,643
Ensembl chrNW_004936631:484,356...489,643
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G |
CUNH2orf80 |
chromosome unknown C2orf80 homolog |
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ISO |
ClinVar Annotator: match by term: Primary pulmonary hypertension |
ClinVar |
PMID:28492532 PMID:31727138 |
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NCBI chrNW_004936950:405,464...438,524
Ensembl chrNW_004936950:435,444...438,575 Ensembl chrNW_004936950:435,444...438,575
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G |
Dytn |
dystrotelin |
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ISO |
ClinVar Annotator: match by term: Primary pulmonary hypertension |
ClinVar |
PMID:28492532 PMID:31727138 |
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NCBI chrNW_004936631:2,975,543...3,041,219
Ensembl chrNW_004936631:2,975,509...3,030,779
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G |
Eef1b2 |
eukaryotic translation elongation factor 1 beta 2 |
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ISO |
ClinVar Annotator: match by term: Primary pulmonary hypertension |
ClinVar |
PMID:28492532 PMID:31727138 |
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NCBI chrNW_004936631:2,539,075...2,542,252
Ensembl chrNW_004936631:2,539,070...2,542,419
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G |
Fam117b |
family with sequence similarity 117 member B |
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ISO |
ClinVar Annotator: match by term: Primary pulmonary hypertension |
ClinVar |
PMID:28492532 PMID:31727138 |
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NCBI chrNW_004936726:1,753,318...1,846,977
Ensembl chrNW_004936726:1,753,652...1,843,405
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G |
Fastkd2 |
FAST kinase domains 2 |
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ISO |
ClinVar Annotator: match by term: Primary pulmonary hypertension |
ClinVar |
PMID:28492532 PMID:31727138 |
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NCBI chrNW_004936631:3,074,719...3,099,233
Ensembl chrNW_004936631:3,074,664...3,102,079
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G |
Fbxo32 |
F-box protein 32 |
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ISO |
mRNA:increased expression:vastus lateralis |
RGD |
PMID:23972212 |
RGD:329812002 |
NCBI chrNW_004936470:23,886,836...23,919,063
Ensembl chrNW_004936470:23,886,970...23,918,258
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G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISO |
protein:increased expression:lung (human) |
RGD |
PMID:29722558 |
RGD:155791445 |
NCBI chrNW_004936486:10,506,680...10,606,272
Ensembl chrNW_004936486:10,507,097...10,602,019
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G |
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...
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NCBI chrNW_004943883:4...1,756
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G |
Fzd5 |
frizzled class receptor 5 |
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ISO |
ClinVar Annotator: match by term: Primary pulmonary hypertension |
ClinVar |
PMID:28492532 PMID:31727138 |
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NCBI chrNW_004936631:3,909,046...3,915,939
Ensembl chrNW_004936631:3,911,693...3,915,560
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G |
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 |
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NCBI chrNW_004936726:1,256,684...1,275,324
Ensembl chrNW_004936726:1,256,678...1,275,467
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G |
Hdac1 |
histone deacetylase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22711276 |
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NCBI chrNW_004936474:15,320,635...15,351,418
Ensembl chrNW_004936474:15,320,729...15,350,860
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G |
Hdac4 |
histone deacetylase 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22711276 |
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NCBI chrNW_004936745:1,730,743...1,942,071
Ensembl chrNW_004936745:1,730,694...1,942,074
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G |
Hdac5 |
histone deacetylase 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22711276 |
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NCBI chrNW_004936541:561,721...598,915
Ensembl chrNW_004936541:558,414...599,195
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G |
Ica1l |
islet cell autoantigen 1 like |
|
ISO |
ClinVar Annotator: match by term: Primary pulmonary hypertension |
ClinVar |
PMID:28492532 PMID:31727138 |
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NCBI chrNW_004936726:1,853,178...1,922,684
Ensembl chrNW_004936726:1,853,868...1,902,788
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G |
Icos |
inducible T cell costimulator |
|
ISO |
ClinVar Annotator: match by term: Primary pulmonary hypertension |
ClinVar |
PMID:28492532 PMID:31727138 |
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NCBI chrNW_004936631:562,650...572,263
Ensembl chrNW_004936631:551,394...570,804
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G |
Id1 |
inhibitor of DNA binding 1, HLH protein |
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ISO |
protein:decreased expression:lung, wall of arteriole (human) |
RGD |
PMID:20522807 |
RGD:9686087 |
NCBI chrNW_004936485:18,610,721...18,611,889
Ensembl chrNW_004936485:18,610,665...18,612,059
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G |
Idh1 |
isocitrate dehydrogenase (NADP(+)) 1 |
|
ISO |
ClinVar Annotator: match by term: Primary pulmonary hypertension |
ClinVar |
PMID:28492532 PMID:31727138 |
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NCBI chrNW_004936950:334,894...349,221
Ensembl chrNW_004936950:334,934...348,363
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G |
Ino80d |
INO80 complex subunit D |
|
ISO |
ClinVar Annotator: match by term: Primary pulmonary hypertension |
ClinVar |
PMID:28492532 PMID:31727138 |
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NCBI chrNW_004936631:2,405,056...2,474,798
Ensembl chrNW_004936631:2,410,300...2,474,811
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G |
Kansl1l |
KAT8 regulatory NSL complex subunit 1 like |
|
ISO |
ClinVar Annotator: match by term: Primary pulmonary hypertension |
ClinVar |
PMID:28492532 PMID:31727138 |
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NCBI chrNW_004936845:123,713...248,857
Ensembl chrNW_004936845:109,432...246,833
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G |
Kcnk3 |
potassium two pore domain channel subfamily K member 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chrNW_004936493:5,767,779...5,772,043
Ensembl chrNW_004936493:5,770,103...5,772,326
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G |
Klf7 |
KLF transcription factor 7 |
|
ISO |
ClinVar Annotator: match by term: Primary pulmonary hypertension |
ClinVar |
PMID:28492532 PMID:31727138 |
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NCBI chrNW_004936631:3,327,555...3,412,206
Ensembl chrNW_004936631:3,329,681...3,412,252
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G |
Lancl1 |
LanC like glutathione S-transferase 1 |
|
ISO |
ClinVar Annotator: match by term: Primary pulmonary hypertension |
ClinVar |
PMID:28492532 PMID:31727138 |
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NCBI chrNW_004936586:5,917,470...5,950,101
Ensembl chrNW_004936586:5,917,413...5,952,952
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G |
LOC101964504 |
cytochrome P450 20A1 |
|
ISO |
ClinVar Annotator: match by term: Primary pulmonary hypertension |
ClinVar |
PMID:28492532 PMID:31727138 |
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NCBI chrNW_004936726:2,234,611...2,295,527
Ensembl chrNW_004936726:2,235,361...2,298,775
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G |
Map2 |
microtubule associated protein 2 |
|
ISO |
ClinVar Annotator: match by term: Primary pulmonary hypertension |
ClinVar |
PMID:28492532 PMID:31727138 |
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NCBI chrNW_004936845:475,406...752,600
Ensembl chrNW_004936845:473,366...545,135
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G |
Mdh1b |
malate dehydrogenase 1B |
|
ISO |
ClinVar Annotator: match by term: Primary pulmonary hypertension |
ClinVar |
PMID:28492532 PMID:31727138 |
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NCBI chrNW_004936631:3,050,689...3,074,396
Ensembl chrNW_004936631:3,057,345...3,074,350
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G |
Mettl21a |
methyltransferase 21A, HSPA lysine |
|
ISO |
ClinVar Annotator: match by term: Primary pulmonary hypertension |
ClinVar |
PMID:28492532 PMID:31727138 |
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NCBI chrNW_004936631:3,789,577...3,804,747
Ensembl chrNW_004936631:3,788,754...3,804,844
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G |
Mfn1 |
mitofusin 1 |
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ISO |
protein:decreased expression:vastus lateralis |
RGD |
PMID:23972212 |
RGD:329812002 |
NCBI chrNW_004936566:3,737,315...3,775,894
Ensembl chrNW_004936566:3,737,315...3,775,693
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G |
Mfn2 |
mitofusin 2 |
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ISO |
protein:decreased expression:vastus lateralis |
RGD |
PMID:23972212 |
RGD:329812002 |
NCBI chrNW_004936474:767,754...795,258
Ensembl chrNW_004936474:767,671...796,556
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G |
Myl1 |
myosin light chain 1 |
|
ISO |
ClinVar Annotator: match by term: Primary pulmonary hypertension |
ClinVar |
PMID:28492532 PMID:31727138 |
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NCBI chrNW_004936586:5,993,177...6,013,426
Ensembl chrNW_004936586:5,993,098...6,013,994
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G |
Nbeal1 |
neurobeachin like 1 |
|
ISO |
ClinVar Annotator: match by term: Primary pulmonary hypertension |
ClinVar |
PMID:28492532 PMID:31727138 |
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NCBI chrNW_004936726:2,045,202...2,224,477
Ensembl chrNW_004936726:2,045,191...2,224,251
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G |
Ndufs1 |
NADH:ubiquinone oxidoreductase core subunit S1 |
|
ISO |
ClinVar Annotator: match by term: Primary pulmonary hypertension |
ClinVar |
PMID:28492532 PMID:31727138 |
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NCBI chrNW_004936631:2,503,353...2,538,957
Ensembl chrNW_004936631:2,499,062...2,538,801
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G |
Nop58 |
NOP58 ribonucleoprotein |
|
ISO |
ClinVar Annotator: match by term: Primary pulmonary hypertension |
ClinVar |
PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074 |
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NCBI chrNW_004936726:1,457,038...1,487,374
Ensembl chrNW_004936726:1,457,002...1,486,530
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G |
Nrp2 |
neuropilin 2 |
|
ISO |
ClinVar Annotator: match by term: Primary pulmonary hypertension |
ClinVar |
PMID:28492532 PMID:31727138 |
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NCBI chrNW_004936631:2,106,378...2,222,082
Ensembl chrNW_004936631:2,106,453...2,222,088
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G |
Pard3b |
par-3 family cell polarity regulator beta |
|
ISO |
ClinVar Annotator: match by term: Primary pulmonary hypertension |
ClinVar |
PMID:28492532 PMID:31727138 |
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NCBI chrNW_004936631:1,079,002...2,058,494
Ensembl chrNW_004936631:1,079,478...2,054,258
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G |
Pikfyve |
phosphoinositide kinase, FYVE-type zinc finger containing |
|
ISO |
ClinVar Annotator: match by term: Primary pulmonary hypertension |
ClinVar |
PMID:28492532 PMID:31727138 |
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NCBI chrNW_004936950:242,071...323,204
Ensembl chrNW_004936950:242,522...320,078
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G |
Plekhm3 |
pleckstrin homology domain containing M3 |
|
ISO |
ClinVar Annotator: match by term: Primary pulmonary hypertension |
ClinVar |
PMID:28492532 PMID:31727138 |
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NCBI chrNW_004936631:3,954,774...4,138,079
Ensembl chrNW_004936631:3,960,725...4,138,096
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G |
Pparg |
peroxisome proliferator activated receptor gamma |
|
ISO |
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 |
MouseDO |
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NCBI chrNW_004936602:1,230,907...1,368,588
Ensembl chrNW_004936602:1,230,907...1,304,743
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G |
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 chrNW_004936514:4,775,884...4,814,574
Ensembl chrNW_004936514:4,791,031...4,812,027
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G |
Pth2r |
parathyroid hormone 2 receptor |
|
ISO |
ClinVar Annotator: match by term: Primary pulmonary hypertension |
ClinVar |
PMID:28492532 PMID:31727138 |
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NCBI chrNW_004936950:114,265...181,948
Ensembl chrNW_004936950:114,317...204,718
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G |
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 |
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NCBI chrNW_004936631:100,072...196,557
Ensembl chrNW_004936631:108,310...196,563
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G |
Rfc1 |
replication factor C subunit 1 |
|
ISO |
mRNA:increased expression:lung (human) |
RGD |
PMID:37410515 |
RGD:401940160 |
NCBI chrNW_004936482:6,938,138...7,009,144
Ensembl chrNW_004936482:6,938,681...6,993,705
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G |
Rpe |
ribulose-5-phosphate-3-epimerase |
|
ISO |
ClinVar Annotator: match by term: Primary pulmonary hypertension |
ClinVar |
PMID:28492532 PMID:31727138 |
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NCBI chrNW_004936845:188,414...264,070
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G |
Ryr1 |
ryanodine receptor 1 |
|
ISO |
protein:increased phosphorylation:vastus lateralis |
RGD |
PMID:23972212 |
RGD:329812002 |
NCBI chrNW_004936801:1,185,615...1,298,416
Ensembl chrNW_004936801:1,185,733...1,298,289
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G |
Smad9 |
SMAD family member 9 |
|
ISO |
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 CTD Direct Evidence: marker/mechanism |
MouseDO CTD |
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NCBI chrNW_004936472:30,980,850...31,050,138
Ensembl chrNW_004936472:30,980,928...31,049,618
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G |
Sox17 |
SRY-box transcription factor 17 |
|
ISO |
protein:decreased expression:pulmonary artery (human) |
RGD |
PMID:36919784 |
RGD:329853737 |
NCBI chrNW_004936496:1,248,582...1,251,406
Ensembl chrNW_004936496:1,248,577...1,251,430
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G |
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 |
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NCBI chrNW_004936726:1,402,977...1,413,974
Ensembl chrNW_004936726:1,399,050...1,429,205
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G |
Tnfsf4 |
TNF superfamily member 4 |
|
ISO |
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 |
MouseDO |
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NCBI chrNW_004936481:14,391,359...14,409,514
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G |
Trim63 |
tripartite motif containing 63 |
|
ISO |
mRNA, protein:increased expression:vastus lateralis |
RGD |
PMID:23972212 |
RGD:329812002 |
NCBI chrNW_004936474:10,598,571...10,610,197
Ensembl chrNW_004936474:10,598,561...10,633,001
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G |
Unc80 |
unc-80 homolog, NALCN channel complex subunit |
|
ISO |
ClinVar Annotator: match by term: Primary pulmonary hypertension |
ClinVar |
PMID:28492532 PMID:31727138 |
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NCBI chrNW_004936845:268,357...454,557
Ensembl chrNW_004936845:268,919...454,031
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G |
Vip |
vasoactive intestinal peptide |
|
ISO |
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 |
MouseDO |
|
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NCBI chrNW_004936489:5,425,778...5,434,483
Ensembl chrNW_004936489:5,425,726...5,434,785
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G |
Wdr12 |
WD repeat domain 12 |
|
ISO |
ClinVar Annotator: match by term: Primary pulmonary hypertension |
ClinVar |
PMID:28492532 PMID:31727138 |
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NCBI chrNW_004936726:1,931,221...1,958,457
Ensembl chrNW_004936726:1,931,183...1,958,215
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G |
Zdbf2 |
zinc finger DBF-type containing 2 |
|
ISO |
ClinVar Annotator: match by term: Primary pulmonary hypertension |
ClinVar |
PMID:28492532 PMID:31727138 |
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NCBI chrNW_004936631:2,649,792...2,686,430
Ensembl chrNW_004936631:2,648,381...2,686,434
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G |
Abca3 |
ATP binding cassette subfamily A member 3 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:15976379 PMID:17597647 PMID:18246475 PMID:18317237 PMID:18603241 PMID:18676873 PMID:22145626 PMID:22304854 PMID:22434821 PMID:22435821 PMID:22800827 PMID:22866751 PMID:23166334 PMID: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...
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NCBI chrNW_004936694:1,735,206...1,778,100
Ensembl chrNW_004936694:1,736,207...1,778,116
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G |
Abcc8 |
ATP binding cassette subfamily C member 8 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:25117148 PMID:25741868 |
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NCBI chrNW_004936528:1,608,782...1,682,873
Ensembl chrNW_004936528:1,608,757...1,682,975
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G |
Abi2 |
abl interactor 2 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936631:30,109...101,748
Ensembl chrNW_004936631:30,199...98,511
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G |
Acvrl1 |
activin A receptor like type 1 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 |
ClinVar |
PMID:9245985 PMID:11484689 PMID:12700602 PMID:14684682 PMID:15024723 PMID:15517393 PMID:15687131 PMID:15879500 PMID:15880681 PMID:16429404 PMID:16470787 PMID:16540754 PMID:16690726 PMID:16705692 PMID:16752392 PMID:17384219 PMID:17786384 PMID:18159113 PMID:18495117 PMID:18498373 PMID:18673552 PMID:19555857 PMID:19767588 PMID:20056902 PMID:20414677 PMID:20501893 PMID:21158752 PMID:21378382 PMID:22632830 PMID:23124896 PMID:23298310 PMID:23535011 PMID:23722869 PMID:23919827 PMID:24033266 PMID:24753439 PMID:25557927 PMID:25741868 PMID:25970827 PMID:26387786 PMID:27316748 PMID:27587546 PMID:28492532 PMID:28918311 PMID:29449337 PMID:29515340 PMID:29650961 PMID:29743074 PMID:30260738 PMID:30303062 PMID:30578383 PMID:31019026 PMID:31400083 PMID:31727138 PMID:32300199 PMID:32503579 PMID:32581362 PMID:32899377 PMID:34872578 More...
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NCBI chrNW_004936512:9,364,551...9,379,131
Ensembl chrNW_004936512:9,364,149...9,379,431
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G |
Als2 |
alsin Rho guanine nucleotide exchange factor ALS2 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936726:940,696...1,015,771
Ensembl chrNW_004936726:939,341...1,015,799
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G |
Aox1 |
aldehyde oxidase 1 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936825:263,725...332,424
Ensembl chrNW_004936825:263,081...332,622
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G |
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...
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NCBI chrNW_004936711:325,978...400,374
Ensembl chrNW_004936711:354,020...397,145
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G |
Bmpr1a |
bone morphogenetic protein receptor type 1A |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:24121792 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31727138 |
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NCBI chrNW_004936804:52,435...115,289
Ensembl chrNW_004936804:48,947...115,412
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G |
Bmpr2 |
bone morphogenetic protein receptor type 2 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension | 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:25326637 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:28480048 PMID:28492532 PMID:28507310 PMID:29631995 PMID:29650961 PMID:29743074 PMID:29843651 PMID:30029678 PMID:30578397 PMID:30679663 PMID:31727138 PMID:31797984 PMID:32581362 PMID:33066286 PMID:33380512 More...
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NCBI chrNW_004936726:1,543,263...1,711,422
Ensembl chrNW_004936726:1,543,245...1,704,541
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Bzw1 |
basic leucine zipper and W2 domains 1 |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936726:149,391...166,075
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C2cd6 |
C2 calcium dependent domain containing 6 |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936726:734,269...867,709
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Carf |
calcium responsive transcription factor |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936726:1,958,561...2,010,972
Ensembl chrNW_004936726:1,922,060...2,010,981
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Casp10 |
caspase 10 |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936726:460,556...489,550
Ensembl chrNW_004936726:460,518...485,624
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Casp8 |
caspase 8 |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936726:554,627...596,334
Ensembl chrNW_004936726:554,758...595,922
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Cd28 |
CD28 molecule |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936631:335,411...363,407
Ensembl chrNW_004936631:335,411...363,407
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Cdk15 |
cyclin dependent kinase 15 |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936726:1,037,614...1,129,961
Ensembl chrNW_004936726:1,037,636...1,130,571
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Cflar |
CASP8 and FADD like apoptosis regulator |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936726:381,888...425,565
Ensembl chrNW_004936726:381,835...423,311
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Clk1 |
CDC like kinase 1 |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936726:170,763...178,897
Ensembl chrNW_004936726:170,458...179,545
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Ctla4 |
cytotoxic T-lymphocyte associated protein 4 |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936631:484,356...489,643
Ensembl chrNW_004936631:484,356...489,643
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Eif2ak4 |
eukaryotic translation initiation factor 2 alpha kinase 4 |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32581362 |
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NCBI chrNW_004936471:3,423,792...3,527,089
Ensembl chrNW_004936471:3,423,813...3,526,913
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Eng |
endoglin |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 |
ClinVar |
PMID:10625079 PMID:15517393 PMID:15521985 PMID:15879500 PMID:16690726 PMID:16705692 PMID:16754821 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:26387786 PMID:28492532 PMID:29650961 PMID:30029678 PMID:30665703 PMID:31019283 PMID:31727138 PMID:32503579 PMID:32514857 PMID:32573726 PMID:32581362 PMID:32933640 PMID:33919892 PMID:34872578 More...
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NCBI chrNW_004936487:15,467,165...15,499,180
Ensembl chrNW_004936487:15,467,835...15,477,488
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Fam117b |
family with sequence similarity 117 member B |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936726:1,753,318...1,846,977
Ensembl chrNW_004936726:1,753,652...1,843,405
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Flacc1 |
flagellum associated containing coiled-coil domains 1 |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936726:600,213...631,513
Ensembl chrNW_004936726:600,420...625,853
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Fzd7 |
frizzled class receptor 7 |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936726:1,256,684...1,275,324
Ensembl chrNW_004936726:1,256,678...1,275,467
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Gdf2 |
growth differentiation factor 2 |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:25741868 PMID:26801773 PMID:28492532 PMID:31661308 PMID:31727138 |
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NCBI chrNW_004936554:7,307,461...7,322,048
Ensembl chrNW_004936554:7,316,435...7,322,060
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Gjb2 |
gap junction protein beta 2 |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:17666888 PMID:25741868 PMID:30755392 |
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NCBI chrNW_004936720:1,528,205...1,530,296
Ensembl chrNW_004936720:1,528,249...1,528,929
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Hycc2 |
hyccin PI4KA lipid kinase complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936726:261,530...338,105
Ensembl chrNW_004936726:268,873...338,048
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Hydin |
HYDIN axonemal central pair apparatus protein |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936475:22,523,962...22,836,355
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Ica1l |
islet cell autoantigen 1 like |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936726:1,853,178...1,922,684
Ensembl chrNW_004936726:1,853,868...1,902,788
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Icos |
inducible T cell costimulator |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936631:562,650...572,263
Ensembl chrNW_004936631:551,394...570,804
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Kcnk3 |
potassium two pore domain channel subfamily K member 3 |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 |
ClinVar |
PMID:23883380 PMID:32581362 |
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NCBI chrNW_004936493:5,767,779...5,772,043
Ensembl chrNW_004936493:5,770,103...5,772,326
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Kctd18 |
potassium channel tetramerization domain containing 18 |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936825:396,359...415,478
Ensembl chrNW_004936825:398,875...413,993
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LOC101964504 |
cytochrome P450 20A1 |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936726:2,234,611...2,295,527
Ensembl chrNW_004936726:2,235,361...2,298,775
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Mpp4 |
MAGUK p55 scaffold protein 4 |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936726:893,411...938,876
Ensembl chrNW_004936726:892,550...938,969
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Nbeal1 |
neurobeachin like 1 |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936726:2,045,202...2,224,477
Ensembl chrNW_004936726:2,045,191...2,224,251
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Ndufb3 |
NADH:ubiquinone oxidoreductase subunit B3 |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936726:338,384...349,943
Ensembl chrNW_004936726:338,423...349,943
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Nif3l1 |
NGG1 interacting factor 3 like 1 |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936726:194,873...212,487
Ensembl chrNW_004936726:195,010...232,429
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Nop58 |
NOP58 ribonucleoprotein |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 |
ClinVar |
PMID:23579436 PMID:32581362 |
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NCBI chrNW_004936726:1,457,038...1,487,374
Ensembl chrNW_004936726:1,457,002...1,486,530
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Notch1 |
notch receptor 1 |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
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 More...
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NCBI chrNW_004936669:1,292,016...1,334,061
Ensembl chrNW_004936669:1,292,088...1,332,428
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Notch3 |
notch receptor 3 |
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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...
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NCBI chrNW_004936596:5,265,984...5,301,430
Ensembl chrNW_004936596:5,265,999...5,300,429
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Orc2 |
origin recognition complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936726:215,483...259,867
Ensembl chrNW_004936726:211,859...255,754
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Pah |
phenylalanine hydroxylase |
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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...
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NCBI chrNW_004936492:11,342,566...11,412,323
Ensembl chrNW_004936492:11,342,518...11,412,209
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Phf6 |
PHD finger protein 6 |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936691:716,723...767,960
Ensembl chrNW_004936691:716,697...768,016
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Pms2 |
PMS1 homolog 2, mismatch repair system component |
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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...
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NCBI chrNW_004936750:439,396...468,747
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Ppil3 |
peptidylprolyl isomerase like 3 |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936726:181,128...194,823
Ensembl chrNW_004936726:181,140...194,821
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Raph1 |
Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936631:100,072...196,557
Ensembl chrNW_004936631:108,310...196,563
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Sgo2 |
shugoshin 2 |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936825:350,390...373,005
Ensembl chrNW_004936825:341,283...373,012
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Smad1 |
SMAD family member 1 |
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ISO |
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 |
ClinVar |
PMID:21898662 |
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NCBI chrNW_004936535:3,582,512...3,626,312
Ensembl chrNW_004936535:3,582,489...3,657,063
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Smad4 |
SMAD family member 4 |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 |
ClinVar |
PMID:21898662 PMID:24728327 PMID:25502805 PMID:25559809 PMID:25741868 PMID:26387786 PMID:26467025 PMID:28492532 PMID:29684080 PMID:31515488 More...
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NCBI chrNW_004936497:12,242,869...12,278,012
Ensembl chrNW_004936497:12,249,140...12,278,123
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Smad9 |
SMAD family member 9 |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 |
ClinVar |
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NCBI chrNW_004936472:30,980,850...31,050,138
Ensembl chrNW_004936472:30,980,928...31,049,618
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Sox17 |
SRY-box transcription factor 17 |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
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NCBI chrNW_004936496:1,248,582...1,251,406
Ensembl chrNW_004936496:1,248,577...1,251,430
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Spats2l |
spermatogenesis associated serine rich 2 like |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936825:423,986...591,062
Ensembl chrNW_004936825:423,984...591,495
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Stradb |
STE20 related adaptor beta |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936726:709,037...728,696
Ensembl chrNW_004936726:709,038...731,338
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Sumo1 |
small ubiquitin like modifier 1 |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936726:1,402,977...1,413,974
Ensembl chrNW_004936726:1,399,050...1,429,205
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Tbx4 |
T-box transcription factor 4 |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension | 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...
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NCBI chrNW_004936490:2,823,531...2,853,282
Ensembl chrNW_004936490:2,827,416...2,852,917
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Tmem237 |
transmembrane protein 237 |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936726:872,368...892,185
Ensembl chrNW_004936726:869,238...891,283
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Topbp1 |
DNA topoisomerase II binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936529:6,788,713...6,841,824
Ensembl chrNW_004936529:6,788,187...6,841,888
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Trak2 |
trafficking kinesin protein 2 |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936726:649,413...708,816
Ensembl chrNW_004936726:649,418...708,820
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Wdr12 |
WD repeat domain 12 |
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ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936726:1,931,221...1,958,457
Ensembl chrNW_004936726:1,931,183...1,958,215
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Smad9 |
SMAD family member 9 |
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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...
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NCBI chrNW_004936472:30,980,850...31,050,138
Ensembl chrNW_004936472:30,980,928...31,049,618
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Bmpr1b |
bone morphogenetic protein receptor type 1B |
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ISO |
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 3 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936687:2,346,601...2,595,283
Ensembl chrNW_004936687:2,503,777...2,597,522
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Cav1 |
caveolin 1 |
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ISO |
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 3 |
OMIM ClinVar |
PMID:22474227 PMID:25741868 PMID:28492532 PMID:29231014 PMID:31727138 |
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NCBI chrNW_004936589:2,504,235...2,536,778
Ensembl chrNW_004936589:2,504,224...2,537,170
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G |
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...
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NCBI chrNW_004936493:5,767,779...5,772,043
Ensembl chrNW_004936493:5,770,103...5,772,326
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G |
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...
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NCBI chrNW_004936711:325,978...400,374
Ensembl chrNW_004936711:354,020...397,145
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G |
Abca3 |
ATP binding cassette subfamily A member 3 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:15976379 PMID:17597647 PMID:18246475 PMID:18317237 PMID:18603241 PMID:18676873 PMID:22145626 PMID:22304854 PMID:22434821 PMID:22435821 PMID:22800827 PMID:22866751 PMID:23166334 PMID: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...
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NCBI chrNW_004936694:1,735,206...1,778,100
Ensembl chrNW_004936694:1,736,207...1,778,116
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G |
Abcc8 |
ATP binding cassette subfamily C member 8 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:25117148 PMID:25741868 |
|
NCBI chrNW_004936528:1,608,782...1,682,873
Ensembl chrNW_004936528:1,608,757...1,682,975
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G |
Abi2 |
abl interactor 2 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
|
NCBI chrNW_004936631:30,109...101,748
Ensembl chrNW_004936631:30,199...98,511
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G |
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...
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NCBI chrNW_004936512:9,364,551...9,379,131
Ensembl chrNW_004936512:9,364,149...9,379,431
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G |
Ahr |
aryl hydrocarbon receptor |
severity |
ISO |
CTD Direct Evidence: marker/mechanism protein:increased activity:serum (human) |
CTD RGD |
PMID:33836606 |
RGD:401940192 |
NCBI chrNW_004936546:3,737,908...3,783,492
Ensembl chrNW_004936546:3,737,851...3,783,588
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G |
Ahsp |
alpha hemoglobin stabilizing protein |
|
ISO |
mRNA:altered expression: (human) |
RGD |
PMID:35710932 |
RGD:329961295 |
NCBI chrNW_004936543:8,317,344...8,325,273
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G |
Als2 |
alsin Rho guanine nucleotide exchange factor ALS2 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936726:940,696...1,015,771
Ensembl chrNW_004936726:939,341...1,015,799
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G |
Aox1 |
aldehyde oxidase 1 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936825:263,725...332,424
Ensembl chrNW_004936825:263,081...332,622
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G |
Apln |
apelin |
treatment |
ISO |
|
RGD |
PMID:23867624 |
RGD:329848996 |
NCBI chrNW_004936479:1,889,930...1,899,811
Ensembl chrNW_004936479:1,890,229...1,899,730
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G |
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...
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NCBI chrNW_004936711:325,978...400,374
Ensembl chrNW_004936711:354,020...397,145
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G |
Axin2 |
axin 2 |
exacerbates |
ISO |
|
RGD |
PMID:28694128 |
RGD:151356920 |
NCBI chrNW_004936541:7,155,963...7,242,466
Ensembl chrNW_004936541:7,211,985...7,242,470
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G |
Bmp7 |
bone morphogenetic protein 7 |
|
ISO |
protein:increased expression:lung, pulmonary artery (rat) |
RGD |
PMID:31542483 |
RGD:155888480 |
NCBI chrNW_004936530:71,965...143,940
Ensembl chrNW_004936530:71,920...143,940
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G |
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...
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NCBI chrNW_004936804:52,435...115,289
Ensembl chrNW_004936804:48,947...115,412
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G |
Bmpr1b |
bone morphogenetic protein receptor type 1B |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease |
ClinVar |
PMID:25741868 PMID:30029678 |
|
NCBI chrNW_004936687:2,346,601...2,595,283
Ensembl chrNW_004936687:2,503,777...2,597,522
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G |
Bmpr2 |
bone morphogenetic protein receptor type 2 |
treatment |
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease |
RGD ClinVar |
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:19555857 PMID:20002458 PMID:20095988 PMID:20096498 PMID:20534176 PMID:21737554 PMID:21801371 PMID:23298310 PMID:23579436 PMID:23592887 PMID:23675998 PMID:23867624 PMID:24591673 PMID:25187962 PMID:25326637 PMID:25429696 PMID:25612240 PMID:25688877 PMID:25741868 PMID:26387786 PMID:26645265 PMID:27884767 PMID:28388887 PMID:28480048 PMID:28492532 PMID:29631995 PMID:29650961 PMID:29843651 PMID:30029678 PMID:30578397 PMID:31727138 PMID:32581362 More...
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RGD:329848996 |
NCBI chrNW_004936726:1,543,263...1,711,422
Ensembl chrNW_004936726:1,543,245...1,704,541
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G |
Bzw1 |
basic leucine zipper and W2 domains 1 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936726:149,391...166,075
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G |
C2cd6 |
C2 calcium dependent domain containing 6 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936726:734,269...867,709
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G |
Carf |
calcium responsive transcription factor |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936726:1,958,561...2,010,972
Ensembl chrNW_004936726:1,922,060...2,010,981
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G |
Casp10 |
caspase 10 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936726:460,556...489,550
Ensembl chrNW_004936726:460,518...485,624
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G |
Casp8 |
caspase 8 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
|
NCBI chrNW_004936726:554,627...596,334
Ensembl chrNW_004936726:554,758...595,922
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G |
Cav1 |
caveolin 1 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease |
ClinVar |
PMID:25741868 PMID:30029678 |
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NCBI chrNW_004936589:2,504,235...2,536,778
Ensembl chrNW_004936589:2,504,224...2,537,170
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G |
Cd28 |
CD28 molecule |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936631:335,411...363,407
Ensembl chrNW_004936631:335,411...363,407
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G |
Cdh2 |
cadherin 2 |
|
ISO |
mRNA:increased expression:lung |
RGD |
PMID:25593290 |
RGD:38500244 |
NCBI chrNW_004936550:6,885,484...7,067,001
Ensembl chrNW_004936550:6,886,706...6,945,056
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G |
Cdk15 |
cyclin dependent kinase 15 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936726:1,037,614...1,129,961
Ensembl chrNW_004936726:1,037,636...1,130,571
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G |
Cflar |
CASP8 and FADD like apoptosis regulator |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936726:381,888...425,565
Ensembl chrNW_004936726:381,835...423,311
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G |
Clk1 |
CDC like kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936726:170,763...178,897
Ensembl chrNW_004936726:170,458...179,545
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G |
Cp |
ceruloplasmin |
|
ISO |
associated with systemic scleroderma;protein:increased expression:serum |
RGD |
PMID:32630589 |
RGD:401827129 |
NCBI chrNW_004936519:6,431,156...6,473,183
Ensembl chrNW_004936519:6,431,144...6,481,858
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G |
Creb1 |
cAMP responsive element binding protein 1 |
treatment |
ISO |
|
RGD |
PMID:33760143 |
RGD:401960860 |
NCBI chrNW_004936631:3,721,307...3,785,346
Ensembl chrNW_004936631:3,721,313...3,780,892
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G |
Ctla4 |
cytotoxic T-lymphocyte associated protein 4 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936631:484,356...489,643
Ensembl chrNW_004936631:484,356...489,643
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G |
Ctnnd1 |
catenin delta 1 |
|
ISO |
protein:decreased expression:lung |
RGD |
PMID:25593290 |
RGD:38500244 |
NCBI chrNW_004936581:4,750,845...4,802,262
Ensembl chrNW_004936581:4,750,947...4,802,289
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G |
Ddah1 |
dimethylarginine dimethylaminohydrolase 1 |
exacerbates |
ISO |
compared to wild type |
RGD |
PMID:31402164 |
RGD:151347602 |
NCBI chrNW_004936608:262,653...397,753
Ensembl chrNW_004936608:262,445...397,762
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G |
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 chrNW_004936471:3,423,792...3,527,089
Ensembl chrNW_004936471:3,423,813...3,526,913
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G |
Eng |
endoglin |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease |
ClinVar |
PMID:10625079 PMID: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...
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NCBI chrNW_004936487:15,467,165...15,499,180
Ensembl chrNW_004936487:15,467,835...15,477,488
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G |
Fam117b |
family with sequence similarity 117 member B |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
|
NCBI chrNW_004936726:1,753,318...1,846,977
Ensembl chrNW_004936726:1,753,652...1,843,405
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G |
Fhit |
fragile histidine triad diadenosine triphosphatase |
|
ISO |
|
RGD |
PMID:30107138 |
RGD:329349307 |
NCBI chrNW_004936473:397,140...1,424,805
Ensembl chrNW_004936473:676,237...1,424,506
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G |
Flacc1 |
flagellum associated containing coiled-coil domains 1 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
|
NCBI chrNW_004936726:600,213...631,513
Ensembl chrNW_004936726:600,420...625,853
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G |
Fto |
FTO alpha-ketoglutarate dependent dioxygenase |
|
ISO |
protein:decreased expression:lung |
RGD |
PMID:34310344 |
RGD:329845886 |
NCBI chrNW_004936475:6,321,725...6,689,410
Ensembl chrNW_004936475:6,321,711...6,689,588
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G |
Fzd7 |
frizzled class receptor 7 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
|
NCBI chrNW_004936726:1,256,684...1,275,324
Ensembl chrNW_004936726:1,256,678...1,275,467
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G |
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 chrNW_004936554:7,307,461...7,322,048
Ensembl chrNW_004936554:7,316,435...7,322,060
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G |
Gjb2 |
gap junction protein beta 2 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:17666888 PMID:25741868 PMID:30755392 |
|
NCBI chrNW_004936720:1,528,205...1,530,296
Ensembl chrNW_004936720:1,528,249...1,528,929
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G |
Gpx3 |
glutathione peroxidase 3 |
|
ISO |
associated with systemic scleroderma;protein:decreased expression:serum |
RGD |
PMID:32630589 |
RGD:401827129 |
NCBI chrNW_004936647:3,904,787...3,914,223
Ensembl chrNW_004936647:3,906,113...3,913,498
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G |
Htr1b |
5-hydroxytryptamine receptor 1B |
|
ISO |
protein:increased expression:endothelium, smooth muscle, pulmonary artery |
RGD |
PMID:28473438 |
RGD:329955562 |
NCBI chrNW_004936890:154,252...157,044
Ensembl chrNW_004936890:155,233...156,408
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G |
Hycc2 |
hyccin PI4KA lipid kinase complex subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
|
NCBI chrNW_004936726:261,530...338,105
Ensembl chrNW_004936726:268,873...338,048
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G |
Hydin |
HYDIN axonemal central pair apparatus protein |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936475:22,523,962...22,836,355
|
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G |
Ica1l |
islet cell autoantigen 1 like |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
|
NCBI chrNW_004936726:1,853,178...1,922,684
Ensembl chrNW_004936726:1,853,868...1,902,788
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G |
Icos |
inducible T cell costimulator |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
|
NCBI chrNW_004936631:562,650...572,263
Ensembl chrNW_004936631:551,394...570,804
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G |
Ifng |
interferon gamma |
treatment |
ISO |
|
RGD |
PMID:23867624 |
RGD:329848996 |
NCBI chrNW_004936545:6,139,130...6,144,543
Ensembl chrNW_004936545:6,139,116...6,148,452
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G |
Igf1r |
insulin like growth factor 1 receptor |
treatment |
ISO |
|
RGD |
PMID:30240970 |
RGD:156430315 |
NCBI chrNW_004936483:4,563,995...4,860,231
Ensembl chrNW_004936483:4,564,512...4,852,925
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G |
Il2 |
interleukin 2 |
treatment |
ISO |
|
RGD |
PMID:23867624 |
RGD:329848996 |
NCBI chrNW_004936662:1,594,953...1,599,625
Ensembl chrNW_004936662:1,594,953...1,599,625
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G |
Impa1 |
inositol monophosphatase 1 |
|
ISO |
|
RGD |
PMID:30604625 |
RGD:126781711 |
NCBI chrNW_004936656:2,598,454...2,616,643
Ensembl chrNW_004936656:2,598,413...2,618,396
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G |
Itga5 |
integrin subunit alpha 5 |
|
ISO |
mRNA:increased expression:lung |
RGD |
PMID:25593290 |
RGD:38500244 |
NCBI chrNW_004936512:11,588,818...11,612,580
Ensembl chrNW_004936512:11,588,645...11,612,669
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G |
Kcnk3 |
potassium two pore domain channel subfamily K member 3 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
|
NCBI chrNW_004936493:5,767,779...5,772,043
Ensembl chrNW_004936493:5,770,103...5,772,326
|
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G |
Kcnn4 |
potassium calcium-activated channel subfamily N member 4 |
ameliorates |
ISO |
|
RGD |
PMID:28679649 |
RGD:329955564 |
NCBI chrNW_004936706:940,585...952,484
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G |
Kctd18 |
potassium channel tetramerization domain containing 18 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
|
NCBI chrNW_004936825:396,359...415,478
Ensembl chrNW_004936825:398,875...413,993
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G |
LOC101964504 |
cytochrome P450 20A1 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
|
NCBI chrNW_004936726:2,234,611...2,295,527
Ensembl chrNW_004936726:2,235,361...2,298,775
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G |
Map3k7 |
mitogen-activated protein kinase kinase kinase 7 |
treatment |
ISO |
|
RGD |
PMID:35582418 |
RGD:155804297 |
NCBI chrNW_004936510:1,772,971...1,836,075
Ensembl chrNW_004936510:1,772,971...1,837,765
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G |
Mpp4 |
MAGUK p55 scaffold protein 4 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
|
NCBI chrNW_004936726:893,411...938,876
Ensembl chrNW_004936726:892,550...938,969
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G |
Nbeal1 |
neurobeachin like 1 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
|
NCBI chrNW_004936726:2,045,202...2,224,477
Ensembl chrNW_004936726:2,045,191...2,224,251
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G |
Ndufb3 |
NADH:ubiquinone oxidoreductase subunit B3 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
|
NCBI chrNW_004936726:338,384...349,943
Ensembl chrNW_004936726:338,423...349,943
|
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G |
Nif3l1 |
NGG1 interacting factor 3 like 1 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936726:194,873...212,487
Ensembl chrNW_004936726:195,010...232,429
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G |
Nnmt |
nicotinamide N-methyltransferase |
|
ISO |
protein:increased activity,altered activity:lung, liver (rat) |
RGD |
PMID:27581040 |
RGD:401793717 |
NCBI chrNW_004936612:333,421...351,202
Ensembl chrNW_004936612:333,421...351,202
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G |
Nop58 |
NOP58 ribonucleoprotein |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
|
NCBI chrNW_004936726:1,457,038...1,487,374
Ensembl chrNW_004936726:1,457,002...1,486,530
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G |
Nos3 |
nitric oxide synthase 3 |
treatment |
ISO |
|
RGD |
PMID:23867624 |
RGD:329848996 |
NCBI chrNW_004936527:6,427,147...6,445,770
Ensembl chrNW_004936527:6,427,093...6,446,534
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G |
Notch1 |
notch receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
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 More...
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NCBI chrNW_004936669:1,292,016...1,334,061
Ensembl chrNW_004936669:1,292,088...1,332,428
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G |
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...
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NCBI chrNW_004936596:5,265,984...5,301,430
Ensembl chrNW_004936596:5,265,999...5,300,429
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G |
Orc2 |
origin recognition complex subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
|
NCBI chrNW_004936726:215,483...259,867
Ensembl chrNW_004936726:211,859...255,754
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G |
Park7 |
Parkinsonism associated deglycase |
exacerbates |
ISO |
|
RGD |
PMID:29069575 |
RGD:151347449 |
NCBI chrNW_004936623:2,422,780...2,436,817
Ensembl chrNW_004936623:2,422,833...2,436,817
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G |
Pdcd4 |
programmed cell death 4 |
treatment |
ISO |
|
RGD |
PMID:30240970 |
RGD:156430315 |
NCBI chrNW_004936486:1,684,167...1,705,387
Ensembl chrNW_004936486:1,684,135...1,705,715
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G |
Phf6 |
PHD finger protein 6 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936691:716,723...767,960
Ensembl chrNW_004936691:716,697...768,016
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G |
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...
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NCBI chrNW_004936750:439,396...468,747
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G |
Ppil3 |
peptidylprolyl isomerase like 3 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
|
NCBI chrNW_004936726:181,128...194,823
Ensembl chrNW_004936726:181,140...194,821
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G |
Ptgis |
prostaglandin I2 synthase |
treatment susceptibility |
ISO |
human gene in a rat model DNA:repeat, SNPs:promoter, intron: , 185C>T, 325C>A ( , rs5582, rs116939356) (human) |
RGD |
PMID:11034952 PMID:17635855 PMID:18612919 PMID:23841984 PMID:24605778 |
RGD:401901195 RGD:401901264 RGD:401959335 RGD:401959406 RGD:401959742 |
NCBI chrNW_004936514:4,775,884...4,814,574
Ensembl chrNW_004936514:4,791,031...4,812,027
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G |
Ptprd |
protein tyrosine phosphatase receptor type D |
|
ISO |
mRNA:decreased expression:blood, pulmonary artery (human) |
RGD |
PMID:35848503 |
RGD:401976433 |
NCBI chrNW_004936539:2,564,815...3,369,975
Ensembl chrNW_004936539:2,564,793...2,945,293
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G |
Raph1 |
Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936631:100,072...196,557
Ensembl chrNW_004936631:108,310...196,563
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G |
Selenop |
selenoprotein P |
|
ISO |
associated with systemic scleroderma;protein:decreased expression:serum |
RGD |
PMID:32630589 |
RGD:401827129 |
NCBI chrNW_004936518:155,905...166,932
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G |
Sgo2 |
shugoshin 2 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936825:350,390...373,005
Ensembl chrNW_004936825:341,283...373,012
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G |
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 |
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NCBI chrNW_004936497:12,242,869...12,278,012
Ensembl chrNW_004936497:12,249,140...12,278,123
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G |
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 chrNW_004936472:30,980,850...31,050,138
Ensembl chrNW_004936472:30,980,928...31,049,618
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G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
protein:decreased expression:pulmonary artery protein:decreased expression:small pulmonary artery |
RGD |
PMID:20529999 |
RGD:27095884 |
NCBI chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781
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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) |
ClinVar RGD |
PMID:29650961 PMID:30527955 |
RGD:329853735 RGD:329955464 |
NCBI chrNW_004936496:1,248,582...1,251,406
Ensembl chrNW_004936496:1,248,577...1,251,430
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G |
Spats2l |
spermatogenesis associated serine rich 2 like |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936825:423,986...591,062
Ensembl chrNW_004936825:423,984...591,495
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G |
Stradb |
STE20 related adaptor beta |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936726:709,037...728,696
Ensembl chrNW_004936726:709,038...731,338
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G |
Sumo1 |
small ubiquitin like modifier 1 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
|
NCBI chrNW_004936726:1,402,977...1,413,974
Ensembl chrNW_004936726:1,399,050...1,429,205
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G |
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:30029678 PMID:30578397 PMID:31151956 PMID:31727138 PMID:31761294 PMID:31965066 PMID:32079640 PMID:32581362 PMID:32860008 PMID:33066286 More...
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NCBI chrNW_004936490:2,823,531...2,853,282
Ensembl chrNW_004936490:2,827,416...2,852,917
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G |
Tgfbr1 |
transforming growth factor beta receptor 1 |
|
ISO |
mRNA:increased expression:lung |
RGD |
PMID:25593290 |
RGD:38500244 |
NCBI chrNW_004936524:7,656,523...7,680,043
Ensembl chrNW_004936524:7,655,847...7,681,097
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G |
Tmem237 |
transmembrane protein 237 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
|
NCBI chrNW_004936726:872,368...892,185
Ensembl chrNW_004936726:869,238...891,283
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G |
Topbp1 |
DNA topoisomerase II binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936529:6,788,713...6,841,824
Ensembl chrNW_004936529:6,788,187...6,841,888
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G |
Trak2 |
trafficking kinesin protein 2 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
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NCBI chrNW_004936726:649,413...708,816
Ensembl chrNW_004936726:649,418...708,820
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G |
Trpc4 |
transient receptor potential cation channel subfamily C member 4 |
ameliorates |
ISO |
|
RGD |
PMID:24113457 |
RGD:150429956 |
NCBI chrNW_004936472:31,710,873...31,909,106
Ensembl chrNW_004936472:31,711,040...31,843,876
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G |
Twist1 |
twist family bHLH transcription factor 1 |
|
ISO |
mRNA, protein:increased expression: pulmonary artery,lung: |
RGD |
PMID:25593290 |
RGD:38500244 |
NCBI chrNW_004936546:5,331,220...5,332,669
Ensembl chrNW_004936546:5,331,863...5,332,555
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G |
Vim |
vimentin |
|
ISO |
protein:increased phosphorylation:lung |
RGD |
PMID:25593290 |
RGD:38500244 |
NCBI chrNW_004936520:10,051,692...10,059,324
Ensembl chrNW_004936520:10,052,012...10,059,182
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G |
Wdr12 |
WD repeat domain 12 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arterial hypertension |
ClinVar |
PMID:32581362 |
|
NCBI chrNW_004936726:1,931,221...1,958,457
Ensembl chrNW_004936726:1,931,183...1,958,215
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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...
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NCBI chrNW_004936512:9,364,551...9,379,131
Ensembl chrNW_004936512:9,364,149...9,379,431
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G |
Eng |
endoglin |
|
ISO |
ClinVar Annotator: match by term: PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED |
ClinVar |
PMID:14684682 PMID:15024723 PMID:15115879 PMID:15687131 PMID:15879500 PMID:18156574 PMID:20656886 PMID:22385575 PMID:23919827 PMID:25741868 PMID:28492532 PMID:32573726 More...
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NCBI chrNW_004936487:15,467,165...15,499,180
Ensembl chrNW_004936487:15,467,835...15,477,488
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G |
Dnm1l |
dynamin 1 like |
|
ISO |
mRNA:increased expression:lung (rat) |
RGD |
PMID:23517027 |
RGD:12738217 |
NCBI chrNW_004936607:3,576,357...3,632,423
Ensembl chrNW_004936607:3,576,392...3,632,554
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G |
Fis1 |
fission, mitochondrial 1 |
|
ISO |
mRNA:increased expression:lung (rat) |
RGD |
PMID:23517027 |
RGD:12738217 |
NCBI chrNW_004936543:1,112,746...1,116,521
Ensembl chrNW_004936543:1,112,742...1,116,518
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G |
Gucy1a1 |
guanylate cyclase 1 soluble subunit alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25373139 |
|
NCBI chrNW_004936576:2,353,874...2,411,747
Ensembl chrNW_004936576:2,353,761...2,411,425
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G |
Hmox1 |
heme oxygenase 1 |
|
ISO |
protein:increased expression:lung |
RGD |
PMID:21296072 |
RGD:10755745 |
NCBI chrNW_004936492:5,042,353...5,049,216
Ensembl chrNW_004936492:5,042,330...5,049,311
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G |
Mfn2 |
mitofusin 2 |
|
ISO |
mRNA:decreased expression:lung (rat) |
RGD |
PMID:23517027 |
RGD:12738217 |
NCBI chrNW_004936474:767,754...795,258
Ensembl chrNW_004936474:767,671...796,556
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G |
LOC101963197 |
HLA class II histocompatibility antigen, DP beta 1 chain |
susceptibility |
ISO |
DNA:polymorphisms:cds:HLA-DPB1*0202 (human) |
RGD |
PMID:19165231 |
RGD:5143999 |
NCBI chrNW_004936476:25,730,800...25,741,089
Ensembl chrNW_004936476:25,730,596...25,741,145
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G |
Ahr |
aryl hydrocarbon receptor |
treatment |
ISO |
|
RGD |
PMID:33836606 |
RGD:401940192 |
NCBI chrNW_004936546:3,737,908...3,783,492
Ensembl chrNW_004936546:3,737,851...3,783,588
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G |
Egfr |
epidermal growth factor receptor |
treatment |
ISO |
|
RGD |
PMID:31264901 |
RGD:38599217 |
NCBI chrNW_004936678:365,005...560,546
Ensembl chrNW_004936678:365,834...436,528
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G |
Egln1 |
egl-9 family hypoxia inducible factor 1 |
|
ISO |
|
RGD |
PMID:16761101 |
RGD:11252085 |
NCBI chrNW_004936484:19,343,770...19,386,087
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G |
Egln3 |
egl-9 family hypoxia inducible factor 3 |
|
ISO |
|
RGD |
PMID:16761101 |
RGD:11252085 |
NCBI chrNW_004936494:8,240,272...8,267,487
Ensembl chrNW_004936494:8,238,858...8,267,606
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G |
G6pd |
glucose-6-phosphate dehydrogenase |
treatment |
ISO |
|
RGD |
PMID:25063801 |
RGD:10449119 |
NCBI chrNW_004936809:1,269,900...1,285,853
Ensembl chrNW_004936809:1,269,914...1,285,889
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G |
Got1 |
glutamic-oxaloacetic transaminase 1 |
|
ISO |
mRNA:decreased expression:lung (rat) |
RGD |
PMID:19823174 |
RGD:4145499 |
NCBI chrNW_004936636:617,376...640,424
Ensembl chrNW_004936636:617,356...640,932
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G |
Hpgd |
15-hydroxyprostaglandin dehydrogenase |
|
ISO |
mRNA, protein:increased expression:lung |
RGD |
PMID:24657469 |
RGD:11667099 |
NCBI chrNW_004936516:5,551,192...5,578,796
Ensembl chrNW_004936516:5,550,203...5,578,832
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G |
LOC101969148 |
cytochrome P450 1A1 |
|
ISO |
mRNA:increased expression:lung (rat) |
RGD |
PMID:33836606 |
RGD:401940192 |
NCBI chrNW_004936471:33,682,730...33,688,332
Ensembl chrNW_004936471:33,682,730...33,688,332
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G |
Mfn2 |
mitofusin 2 |
|
ISO |
mRNA, protein:decreased expression:lung (rat) |
RGD |
PMID:26485208 |
RGD:12910856 |
NCBI chrNW_004936474:767,754...795,258
Ensembl chrNW_004936474:767,671...796,556
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G |
Nog |
noggin |
|
ISO |
mRNA,protein:decreased expression:lung: |
RGD |
PMID:25740156 |
RGD:12801489 |
NCBI chrNW_004936490:6,262,651...6,264,069
Ensembl chrNW_004936490:6,262,785...6,263,483
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G |
Nos3 |
nitric oxide synthase 3 |
|
ISO |
mRNA,protein:increased expression:pulmonary artery |
RGD |
PMID:9950873 |
RGD:11533933 |
NCBI chrNW_004936527:6,427,147...6,445,770
Ensembl chrNW_004936527:6,427,093...6,446,534
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G |
Pcna |
proliferating cell nuclear antigen |
|
ISO |
protein:increased expression:lung (rat) |
RGD |
PMID:26485208 |
RGD:12910856 |
NCBI chrNW_004936485:13,766,221...13,771,215
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G |
Ptgis |
prostaglandin I2 synthase |
treatment |
ISO |
|
RGD |
PMID:12062720 |
RGD:401959327 |
NCBI chrNW_004936514:4,775,884...4,814,574
Ensembl chrNW_004936514:4,791,031...4,812,027
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G |
Ptprd |
protein tyrosine phosphatase receptor type D |
|
ISO |
mRNA, protein:decreased expression:pulmonary artery (rat) |
RGD |
PMID:35848503 |
RGD:401976433 |
NCBI chrNW_004936539:2,564,815...3,369,975
Ensembl chrNW_004936539:2,564,793...2,945,293
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G |
Slc39a12 |
solute carrier family 39 member 12 |
severity |
ISO |
|
RGD |
PMID:26258299 |
RGD:10401832 |
NCBI chrNW_004936520:9,380,723...9,444,146
Ensembl chrNW_004936520:9,380,650...9,444,152
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G |
Sox17 |
SRY-box transcription factor 17 |
exacerbates |
ISO |
protein:decreased expression:pulmonary artery endothelium (mouse) |
RGD |
PMID:36205124 PMID:36913491 PMID:36919784 PMID:37066790 |
RGD:329853316 RGD:329853317 RGD:329853734 RGD:329853737 |
NCBI chrNW_004936496:1,248,582...1,251,406
Ensembl chrNW_004936496:1,248,577...1,251,430
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G |
Atf4 |
activating transcription factor 4 |
|
ISO |
protein:increased expression:lung |
RGD |
PMID:32209028 |
RGD:38549370 |
NCBI chrNW_004936492:2,114,478...2,115,969
Ensembl chrNW_004936492:2,110,634...2,115,996
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G |
Bmpr2 |
bone morphogenetic protein receptor type 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
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NCBI chrNW_004936726:1,543,263...1,711,422
Ensembl chrNW_004936726:1,543,245...1,704,541
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G |
Ddit3 |
DNA damage inducible transcript 3 |
|
ISO |
protein:increased expression:lung, endothelial cell |
RGD |
PMID:32209028 |
RGD:38549370 |
NCBI chrNW_004936646:1,665,019...1,669,212
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G |
Eif2ak2 |
eukaryotic translation initiation factor 2 alpha kinase 2 |
|
ISO |
protein:increased expression:lung |
RGD |
PMID:32209028 |
RGD:38549370 |
NCBI chrNW_004936663:1,127,047...1,157,263
Ensembl chrNW_004936663:1,126,977...1,157,137
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G |
Eif2ak3 |
eukaryotic translation initiation factor 2 alpha kinase 3 |
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ISO |
protein:increased expression:lung |
RGD |
PMID:32209028 |
RGD:38549370 |
NCBI chrNW_004936712:413,602...454,443
Ensembl chrNW_004936712:414,446...454,449
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G |
Eif2ak4 |
eukaryotic translation initiation factor 2 alpha kinase 4 |
disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism protein:decreased expression:lung |
CTD RGD |
PMID:24292273 PMID:32209028 |
RGD:38549370 |
NCBI chrNW_004936471:3,423,792...3,527,089
Ensembl chrNW_004936471:3,423,813...3,526,913
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Erg |
ETS transcription factor ERG |
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ISO |
protein:decreased expression:lung |
RGD |
PMID:32209028 |
RGD:38549370 |
NCBI chrNW_004936500:4,459,298...4,623,290
Ensembl chrNW_004936500:4,459,275...4,624,432
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Hmox1 |
heme oxygenase 1 |
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ISO |
protein:increased expression:lung protein:increased expression:lung, endothelial cell |
RGD |
PMID:32209028 |
RGD:38549370 |
NCBI chrNW_004936492:5,042,353...5,049,216
Ensembl chrNW_004936492:5,042,330...5,049,311
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Kcnk3 |
potassium two pore domain channel subfamily K member 3 |
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ISO |
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RGD |
PMID:32209028 |
RGD:38549370 |
NCBI chrNW_004936493:5,767,779...5,772,043
Ensembl chrNW_004936493:5,770,103...5,772,326
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G |
Bmpr2 |
bone morphogenetic protein receptor type 2 |
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ISO |
ClinVar Annotator: match by term: BMPR2-related condition | ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1 |
OMIM ClinVar |
PMID:3291115 PMID:10903931 PMID:11115378 PMID:11502704 PMID:12045205 PMID:12446270 PMID:14985116 PMID:15059534 PMID:15591269 PMID:15965979 PMID:16429395 PMID:16429403 PMID:18356561 PMID:18626305 PMID:19555857 PMID:20002458 PMID:20096498 PMID:20534176 PMID:21070126 PMID:21737554 PMID:21801371 PMID:23298310 PMID:24292273 PMID:25741868 PMID:26387786 PMID:28388887 PMID:28492532 PMID:28507310 PMID:31727138 PMID:32581362 More...
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NCBI chrNW_004936726:1,543,263...1,711,422
Ensembl chrNW_004936726:1,543,245...1,704,541
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G |
Eif2ak4 |
eukaryotic translation initiation factor 2 alpha kinase 4 |
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ISO |
ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1 |
ClinVar |
PMID:24033266 |
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NCBI chrNW_004936471:3,423,792...3,527,089
Ensembl chrNW_004936471:3,423,813...3,526,913
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G |
Bmpr2 |
bone morphogenetic protein receptor type 2 |
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ISO |
ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis |
ClinVar |
PMID:18626305 PMID:24292273 |
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NCBI chrNW_004936726:1,543,263...1,711,422
Ensembl chrNW_004936726:1,543,245...1,704,541
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G |
Eif2ak4 |
eukaryotic translation initiation factor 2 alpha kinase 4 |
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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...
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NCBI chrNW_004936471:3,423,792...3,527,089
Ensembl chrNW_004936471:3,423,813...3,526,913
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