hypertension - Ontology Report - Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Advanced Search (OLGA)

RGD DISEASE ONTOLOGY - ANNOTATIONS

{{ watchLinkText }}

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

Term:	hypertension	go back to main search page
Accession:	DOID:10763	browse the term
Definition:	An artery disease characterized by chronic elevated blood pressure in the arteries. (DO)
Synonyms:	exact_synonym:	HTN; high blood pressure; high blood pressures; hyperpiesia; vascular hypertensive disorder
	related_synonym:	hypertensive disease; increased aldosterone to renin ratio
	primary_id:	MESH:D006973
	xref:	EFO:0000537; ICD9CM:401-405.99; NCI:C3117
For additional species annotation, visit the Alliance of Genome Resources.

GViewer not supported for the selected species.

show annotations for term's descendants Sort by:
Rat (1635) Mouse (964) Human (6397) Chinchilla (850) Bonobo (911) Dog (930) Squirrel (863) Pig (921) Green Monkey (895) Naked Mole-rat (854) All
Genes (895)

hypertension

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

4-aminobutyrate aminotransferase

NCBI chr 5:8,274,310...8,380,973
Ensembl chr 5:8,315,952...8,379,549

G

ATP binding cassette subfamily C member 1 (ABCC1 blood group)

CTD Direct Evidence: marker/mechanism

NCBI chr 5:14,972,589...15,164,594
Ensembl chr 5:14,972,646...15,164,567

G

ATP binding cassette subfamily C member 8

associated with obesity;DNA:polymorphism:exon:

NCBI chr 1:47,494,861...47,578,818
Ensembl chr 1:47,494,959...47,578,882

G

ATP binding cassette subfamily C member 9

protein:decreased expression:aorta

PMID:15964031 PMID:18471810

RGD:1598644 RGD:2301909

NCBI chr11:21,658,804...21,797,851
Ensembl chr11:21,658,794...21,797,263

G

ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase

susceptibility

associated with COVID-19; DNA:polymorphism:cds:allele A (human)

NCBI chr12:4,863,100...4,892,204
Ensembl chr12:4,863,165...4,885,849

G

angiotensin converting enzyme 2

treatment

mRNA, protein:decreased expression:aorta
DNA:SNP:intron:8790A>G, associated with Metabolic Syndrome X (MeSH:D024821)
CTD Direct Evidence: marker/mechanism|therapeutic
mRNA, protein:decreased expression:kidney (rat)

PMID:12075344 PMID:15833808 PMID:16459167 PMID:16788004 PMID:17345786 More...

RGD:1642828 RGD:629626 RGD:9685433 RGD:9685435 RGD:9685442

NCBI chr X:14,032,231...14,094,163
Ensembl chr X:14,030,233...14,077,785

G

acyl-CoA synthetase medium chain family member 3

PMID:8094726 PMID:8507454

RGD:61050 RGD:634023

NCBI chr 5:18,876,390...18,929,914
Ensembl chr 5:18,904,110...18,929,729

G

actin alpha cardiac muscle 1

NCBI chr26:48,105,271...48,110,670
Ensembl chr26:48,105,216...48,110,896

G

adenosine deaminase

NCBI chr 2:19,167,209...19,200,233

G

ADAM metallopeptidase with thrombospondin type 1 motif 16

NCBI chr 4:4,866,300...5,040,338

G

adenylate cyclase 5

mRNA:decreased expression:heart left ventricle
CTD Direct Evidence: marker/mechanism

NCBI chr22:57,427,711...57,589,440

G

adducin 1

DNA:polymorphism: :p.G460W (human)
CTD Direct Evidence: marker/mechanism

PMID:8543181 PMID:9149697 PMID:15474463 PMID:15773232 PMID:19199261

RGD:1302895 RGD:1624953 RGD:631736

NCBI chr27:45,811,611...45,901,277
Ensembl chr27:45,813,496...45,900,778

G

adducin 2

no_association

DNA:SNP: :rs4852706 (human)
DNA:polymorphism

PMID:2059221 PMID:16497648 PMID:24652215

RGD:10047131 RGD:1625293 RGD:631712

NCBI chr14:36,343,978...36,450,685
Ensembl chr14:36,344,022...36,449,315

G

adducin 3

NCBI chr 9:102,930,270...103,056,558
Ensembl chr 9:103,010,713...103,057,101

G

adiponectin, C1Q and collagen domain containing

CTD Direct Evidence: marker/mechanism

NCBI chr15:81,128,427...81,142,779
Ensembl chr15:81,129,795...81,147,391

G

adrenomedullin

mRNA, protein:increased expression:myocardium, aorta
protein:increased expression:plasma

PMID:16450076 PMID:16625237

RGD:1625298 RGD:1625300

NCBI chr 1:54,518,359...54,520,683
Ensembl chr 1:54,518,358...54,520,686

G

adenosine A1 receptor

treatment
no_association

associated with diabetes mellitus, experimental

PMID:8998253 PMID:9597368 PMID:15257174

RGD:1625365 RGD:1625366 RGD:1625367

NCBI chr25:26,180,898...26,221,424
Ensembl chr25:26,182,446...26,220,776

G

adenosine A2a receptor

no_association

NCBI chr19:7,691,678...7,706,781
Ensembl chr19:7,691,536...7,706,926

G

adrenoceptor alpha 1A

mRNA:decreased expression:aorta

PMID:16371063 PMID:19011682

RGD:1625770 RGD:5688340

NCBI chr 8:24,884,187...24,985,824
Ensembl chr 8:24,885,741...24,983,125

G

adrenoceptor alpha 1B

NCBI chr23:62,281,500...62,338,290

G

adrenoceptor alpha 2A

no_association

DNA:polymorphism
mRNA:decreased expression:adrenal gland medulla
CTD Direct Evidence: marker/mechanism

PMID:10694191 PMID:16636200 PMID:20691504

RGD:1625183 RGD:6480490

NCBI chr 9:104,015,577...104,019,364
Ensembl chr 9:104,016,580...104,017,932

G

adrenoceptor alpha 2B

DNA:polymorphism (human)

PMID:17070424 PMID:18953403

RGD:2313541 RGD:2313548

NCBI chr14:558,876...562,959
Ensembl chr14:561,057...562,400

G

adrenoceptor beta 1

CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Type 2;
protein:increased expression:aorta

PMID:9260993 PMID:10673262 PMID:19060223 PMID:20398560

RGD:5129127 RGD:7241549

NCBI chr 9:106,920,520...106,923,424
Ensembl chr 9:106,920,610...106,922,058

G

adrenoceptor beta 2

susceptibility
no_association

DNA:polymorphisms
DNA:polymorphisms: :pG16R, p.Q27E, p.T164I (human)
DNA:polymorphisms: :p.R16G, p.Q27E
DNA:polymorphisms: :46A>G, 79C>G (human)
associated with Kidney Failure, Chronic; DNA:SNP:cds:p.R16G (human)

PMID:2471888 PMID:16041242 PMID:16685203 PMID:17221209 PMID:20484896 More...

RGD:1578728 RGD:1601119 RGD:1601123 RGD:4144883 RGD:7175066 RGD:7175287

NCBI chr23:51,445,920...51,447,942
Ensembl chr23:51,446,154...51,447,401

G

adrenoceptor beta 3

associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.W64R (human)

NCBI chr 8:35,993,553...35,998,200
Ensembl chr 8:35,994,775...35,997,060

G

advanced glycosylation end-product specific receptor

CTD Direct Evidence: marker/mechanism
protein:increased expression:kidney

PMID:19018797 PMID:32147540

NCBI chr17:39,847,343...39,851,288
Ensembl chr17:39,847,759...39,851,127

G

angiotensinogen

susceptibility
treatment
no_association

DNA:polymorphism: :p.M235T
ClinVar Annotator: match by term: Hypertension
DNA:polymorphism:promoter:-20C>A (human)
DNA:polymorphisms: :p.T174M, p.M235T (human)
DNA:polymorphisms: :-6G>A, p.M235T, p.T174M

PMID:1394429 PMID:7649545 PMID:7883995 PMID:8348146 PMID:8513325 More...

RGD:1601130 RGD:1601139 RGD:1601141 RGD:1601143 RGD:329956421 RGD:8549469

NCBI chr25:67,964,840...67,977,006
Ensembl chr25:67,962,401...67,973,324

G

angiotensin II receptor type 1

treatment
no_association
susceptibility

associated with Sleep Apnea Syndromes
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:3' utr:1166A>C
DNA:polymorphism:3' utr:g.1166A>C
mRNA:increased expression:aortic endothelial cell

PMID:8181542 PMID:8952600 PMID:9456365 PMID:9622148 PMID:16519598 More...

RGD:1601148 RGD:1601152 RGD:401793709 RGD:5129169 RGD:5129176 RGD:5147456 RGD:8549458

NCBI chr15:41,957,826...42,002,776

G

angiotensin II receptor type 2

CTD Direct Evidence: marker/mechanism
mRNA, protein:decreased expression:kidney
associated with Sleep Apnea Syndromes

PMID:11924718 PMID:15710752 PMID:19680135 PMID:21040717

RGD:5129169 RGD:6903372 RGD:6903865

G

angiotensin II receptor associated protein

protein:increased expression:kidney

NCBI chr20:120,041,804...120,056,597
Ensembl chr20:120,041,479...120,056,557

G

alanine--glyoxylate aminotransferase 2

DNA:SNP, haplotype:exon:multiple (human)

NCBI chr 4:33,889,615...33,933,500
Ensembl chr 4:33,888,533...33,933,449

G

adenosylhomocysteinase

associated with hyperhomocysteinemia

NCBI chr 2:38,579,254...38,601,218
Ensembl chr 2:38,579,024...38,601,208

G

aryl hydrocarbon receptor

treatment

CTD Direct Evidence: marker/mechanism
associated with chronic intermittent hypoxia

PMID:21115475 PMID:23528973 PMID:30127255 PMID:31489946 PMID:32416216

RGD:401793709 RGD:401793731 RGD:401793732 RGD:401793758

NCBI chr21:40,778,198...40,826,491
Ensembl chr21:40,778,218...40,826,478

G

aryl-hydrocarbon receptor repressor

treatment

PMID:30127255 PMID:31489946

RGD:401793709 RGD:401793758

NCBI chr 4:220,523...329,973
Ensembl chr 4:243,026...326,722

G

allograft inflammatory factor 1

CTD Direct Evidence: marker/mechanism

G

AKT serine/threonine kinase 1

protein:increased serine phosphorylation:kidney

NCBI chr24:82,704,087...82,730,711
Ensembl chr24:82,704,068...82,727,698

G

AKT serine/threonine kinase 2

mRNA:increased expression:cerebral cortex (rat)

NCBI chr 6:34,688,585...34,740,458
Ensembl chr 6:34,690,462...34,720,781

G

aminolevulinate dehydratase

no_association

DNA:polymorphism
CTD Direct Evidence: marker/mechanism

PMID:11335187 PMID:20123609

NCBI chr12:26,173,063...26,185,456
Ensembl chr12:26,173,096...26,189,845

G

albumin

CTD Direct Evidence: therapeutic

NCBI chr 7:21,872,036...21,890,095
Ensembl chr 7:21,876,132...21,891,407

G

aldehyde dehydrogenase 2 family member

no_association
susceptibility

PMID:11510748 PMID:12484509

RGD:1601163 RGD:1601164

NCBI chr11:107,019,015...107,060,784
Ensembl chr11:107,019,111...107,060,374

G

arachidonate 12-lipoxygenase, 12S type

mRNA:decreased expression:medulla oblongata

NCBI chr16:6,355,795...6,370,051
Ensembl chr16:6,356,058...6,369,738

G

arachidonate 15-lipoxygenase

CTD Direct Evidence: marker/mechanism

NCBI chr16:4,112,795...4,121,764
Ensembl chr16:4,111,151...4,121,645

G

arachidonate 5-lipoxygenase

NCBI chr 9:41,085,257...41,145,760
Ensembl chr 9:41,085,361...41,145,331

G

angiopoietin 1

protein:increased expression:plasma, platelet

PMID:16942942 PMID:18285514

RGD:1626157 RGD:2316068

NCBI chr 8:102,020,346...102,268,443

G

annexin A1

protein:altered localization:vascular associated smooth muscle cell
CTD Direct Evidence: marker/mechanism

PMID:16109804 PMID:22228705

NCBI chr12:84,207,818...84,226,438
Ensembl chr12:84,207,820...84,226,562

G

amine oxidase copper containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr21:119,037,498...119,046,875
Ensembl chr21:119,038,356...119,047,279

G

amine oxidase copper containing 3

CTD Direct Evidence: marker/mechanism

NCBI chr16:63,435,494...63,442,790
Ensembl chr16:63,437,067...63,442,256

G

apelin

mRNA:decreased expression:aorta, heart

NCBI chr X:104,885,639...104,896,371
Ensembl chr X:104,888,996...104,895,014

G

apolipoprotein A1

CTD Direct Evidence: marker/mechanism

PMID:18224302 PMID:23401751

NCBI chr 1:108,201,967...108,203,902
Ensembl chr 1:108,201,439...108,203,609

G

apolipoprotein E

onset

CTD Direct Evidence: marker/mechanism
mRNA:decreased expression:multiple (rat)

PMID:20585107 PMID:20720404 PMID:22228705

NCBI chr 6:38,377,154...38,381,219
Ensembl chr 6:38,376,887...38,381,438

G

amyloid beta precursor protein

NCBI chr 2:66,037,224...66,320,860
Ensembl chr 2:66,037,261...66,321,306

G

aquaporin 1 (Colton blood group)

CTD Direct Evidence: marker/mechanism

PMID:20156423 PMID:22228705

NCBI chr21:27,456,553...27,473,196
Ensembl chr21:27,456,259...27,470,728

G

aquaporin 2

protein:decreased expression:kidney medulla
protein:increased expression:kidney medulla

PMID:16582573 PMID:16788141

RGD:1601242 RGD:1601243

NCBI chr11:46,179,783...46,188,631
Ensembl chr11:46,180,387...46,188,712

G

aquaporin 4

NCBI chr18:53,729,143...53,742,916
Ensembl chr18:53,729,186...53,743,156

G

androgen receptor

treatment

CTD Direct Evidence: marker/mechanism

PMID:10523385 PMID:12397037 PMID:15746697

RGD:10043316 RGD:1601245

NCBI chr X:57,380,587...57,553,613
Ensembl chr X:57,380,611...57,546,776

G

arginase 1

mRNA:increased expression:aorta (rat)

PMID:17223136 PMID:18475148

RGD:1626296 RGD:4142834

NCBI chr13:41,971,955...41,983,372
Ensembl chr13:41,971,802...41,983,049

G

arginase 2

mRNA:increased expression:lung
mRNA:increased expression:aorta (rat)

PMID:17223136 PMID:18475148 PMID:20039818

RGD:1626296 RGD:4142834 RGD:4143278

NCBI chr24:44,851,139...44,884,118
Ensembl chr24:44,851,175...44,883,853

G

Rho GDP dissociation inhibitor alpha

protein:decreased expression:cortical collecting duct
mRNA:decreased expression:urinary bladder

PMID:19689474 PMID:25164814

RGD:9684972 RGD:9684979

NCBI chr16:73,741,402...73,745,079
Ensembl chr16:73,740,944...73,745,062

G

AT-rich interaction domain 1B

treatment

NCBI chr13:84,351,298...84,799,691

G

aryl hydrocarbon receptor nuclear translocator

treatment

PMID:23528973 PMID:31489946

RGD:401793732 RGD:401793758

G

arrestin beta 2

protein:decreased expression:rostral ventrolateral medulla

NCBI chr16:4,191,040...4,202,382
Ensembl chr16:4,191,172...4,202,385

G

activating transcription factor 2

NCBI chr10:60,644,623...60,734,465
Ensembl chr10:60,644,635...60,734,475

G

autophagy related 7

protein:increased expression:skeletal muscle

NCBI chr22:47,187,305...47,571,309
Ensembl chr22:47,325,614...47,571,070

G

antioxidant 1 copper chaperone

CTD Direct Evidence: therapeutic

NCBI chr23:54,306,321...54,312,105

G

ATPase Na+/K+ transporting subunit alpha 1

CTD Direct Evidence: marker/mechanism

PMID:8082931 PMID:23416519

NCBI chr20:17,319,440...17,351,054
Ensembl chr20:17,315,117...17,351,054

G

ATPase Na+/K+ transporting subunit alpha 2

susceptibility

CTD Direct Evidence: marker/mechanism
protein:decreased expression:adrenal gland cortex zone

PMID:11257061 PMID:11768735 PMID:16166162 PMID:16243970

RGD:1601251 RGD:1601253 RGD:1601254

NCBI chr20:3,801,044...3,828,680
Ensembl chr20:3,802,887...3,828,692

G

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3

NCBI chr16:3,405,871...3,443,339
Ensembl chr16:3,405,820...3,443,275

G

ATPase plasma membrane Ca2+ transporting 1

mRNA:increased expression:vascular associated smooth muscle cell
CTD Direct Evidence: marker/mechanism

PMID:19430479 PMID:20137670

NCBI chr11:84,985,957...85,053,923
Ensembl chr11:84,989,169...85,103,957

G

ATPase plasma membrane Ca2+ transporting 3

CTD Direct Evidence: marker/mechanism

NCBI chr X:127,966,366...128,013,900
Ensembl chr X:127,966,492...128,013,901

G

ATP synthase F1 subunit alpha

protein:decreased expression:heart left ventricle (rat)

NCBI chr18:34,815,924...34,828,052
Ensembl chr18:34,816,027...34,830,924

G

ATPase H+ transporting accessory protein 2

NCBI chr X:37,742,550...37,769,022
Ensembl chr X:37,742,545...37,769,062

G

arginine vasopressin

protein:increased expression:plasma
protein:increased expression:carotid artery
CTD Direct Evidence: marker/mechanism

PMID:1663982 PMID:3346065 PMID:4040330 PMID:6367368 PMID:12623976 More...

RGD:1601243 RGD:1601305

NCBI chr 2:33,761,066...33,764,608
Ensembl chr 2:33,761,140...33,763,172

G

arginine vasopressin receptor 1A

mRNA, protein:increased expression:kidney, arteriole
mRNA, protein:increased expression:paraventricular hypothalamic nucleus
DNA:SNP

PMID:15475662 PMID:15657301 PMID:17653244

RGD:2300319 RGD:2300322 RGD:2300330

NCBI chr11:59,074,699...59,079,710
Ensembl chr11:59,071,202...59,079,596

G

arginine vasopressin receptor 2

severity

NCBI chr X:128,328,728...128,331,482
Ensembl chr X:128,329,449...128,331,019

G

beta-2-microglobulin

protein:increased expression:serum

NCBI chr26:38,331,818...38,338,785
Ensembl chr26:38,331,442...38,338,809

G

BCL2 associated agonist of cell death

treatment

NCBI chr 1:9,949,717...9,964,433
Ensembl chr 1:9,949,762...9,964,432

G

BCL2 associated X, apoptosis regulator

treatment

NCBI chr 6:42,186,028...42,193,105

G

butyrylcholinesterase

NCBI chr15:23,708,121...23,778,027
Ensembl chr15:23,708,155...23,778,286

G

BCL2 apoptosis regulator

treatment

CTD Direct Evidence: marker/mechanism

PMID:10075388 PMID:20065158

NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895

G

bradykinin receptor B1

DNA:polymorphisms:CDS:in American-Caucasians,T allele of SNP8, C allele of SNP12, T allele of SNP13

PMID:12025958 PMID:15643125 PMID:17988733

RGD:1625732 RGD:5129214 RGD:704378

NCBI chr24:74,136,464...74,146,668
Ensembl chr24:74,145,531...74,146,592

G

bradykinin receptor B2

mRNA:increased expression:hypothalamus
CTD Direct Evidence: marker/mechanism
DNA:SNP:promoter:-58T>C (human)
protein:increased expression:spinal cord

PMID:10614985 PMID:10904024 PMID:11934804 PMID:12025958

RGD:4890455 RGD:4891034 RGD:704378

NCBI chr24:74,084,907...74,125,604
Ensembl chr24:74,118,210...74,122,909

G

beclin 1

protein:increased expression:brain

NCBI chr16:63,469,187...63,482,627
Ensembl chr16:63,469,192...63,485,322

G

basic helix-loop-helix ARNT like 2

DNA:SNPs: :rs6486121, rs3789327, rs969485(human)

NCBI chr11:27,067,523...27,141,740
Ensembl chr11:27,067,604...27,136,466

G

bone morphogenetic protein 2

treatment

NCBI chr 2:31,349,394...31,361,227
Ensembl chr 2:31,348,808...31,360,901

G

BRCA1 DNA repair associated

treatment

NCBI chr16:63,162,827...63,243,928

G

bombesin receptor subtype 3

NCBI chr X:111,488,422...111,496,637
Ensembl chr X:111,489,165...111,493,375

G

complement C3

NCBI chr 6:6,250,422...6,289,264

G

calcium voltage-gated channel subunit alpha1 C

CTD Direct Evidence: marker/mechanism

NCBI chr11:2,107,722...2,753,970
Ensembl chr11:2,508,705...2,752,991

G

calcium voltage-gated channel auxiliary subunit alpha2delta 1

CTD Direct Evidence: marker/mechanism

NCBI chr21:66,449,154...66,937,643
Ensembl chr21:66,770,578...66,934,898

G

calcium voltage-gated channel auxiliary subunit beta 2

susceptibility

DNA:SNP: :rs4373814(human)

NCBI chr 9:18,075,436...18,470,985
Ensembl chr 9:18,332,165...18,469,617

G

calpain 6

associated with high salt diet; mRNA:decreased expression:heart (rat)

NCBI chr X:99,052,100...99,077,508
Ensembl chr X:99,051,989...99,077,302

G

calpain 9

associated with high salt diet; mRNA:decreased expression:heart (rat)

NCBI chr25:68,018,785...68,072,299
Ensembl chr25:68,019,375...68,072,123

G

caspase 3

treatment

PMID:20065158 PMID:27929425

RGD:10053702 RGD:13782308

NCBI chr 7:130,589,592...130,610,845
Ensembl chr 7:130,591,166...130,610,899

G

caspase 8

NCBI chr10:86,888,654...86,944,159
Ensembl chr10:86,916,527...86,943,829

G

caspase 9

NCBI chr20:116,772,819...116,798,402
Ensembl chr20:116,772,155...116,798,930

G

calpastatin

associated with high salt diet; mRNA:increased expression:heart (rat)

NCBI chr 4:90,496,867...90,607,019
Ensembl chr 4:90,497,754...90,605,481

G

catalase

CTD Direct Evidence: marker/mechanism

PMID:11479740 PMID:16716903 PMID:20667508 PMID:21593737 PMID:22228705

NCBI chr 1:30,792,533...30,828,920
Ensembl chr 1:30,792,399...30,829,592

G

caveolin 1

protein:increased expression:artery smooth muscle, blood vessel endothelial cell
CTD Direct Evidence: marker/mechanism

PMID:1798635 PMID:17986358

NCBI chr21:85,222,724...85,258,562
Ensembl chr21:85,222,879...85,258,627

G

C-C motif chemokine ligand 2

treatment
ameliorates

associated with Cardiac Fibrosis
protein:increased expression:urine
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Non-Insulin-Dependent;mRNA, protein:increased expression:kidney cortex, urine

PMID:17922026 PMID:17989143 PMID:18459944 PMID:20667508 PMID:25715999 More...

RGD:2307029 RGD:2307054 RGD:401794570 RGD:8549771

NCBI chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416

G

C-C motif chemokine ligand 28

no_association

protein:increased expression:kidney (rat)
mRNA, protein:decreased expression:kidney (rat)

PMID:16840655 PMID:19829664

RGD:2298761 RGD:4892132

NCBI chr 4:42,163,094...42,194,517

G

C-C motif chemokine ligand 5

associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum

NCBI chr16:29,351,214...29,361,317

G

cellular communication network factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:41,613,838...41,617,010
Ensembl chr13:41,613,798...41,617,651

G

cyclin E1

protein:increased expression:vascular associated smooth muscle cell

NCBI chr 6:24,879,923...24,888,985

G

C-C motif chemokine receptor 5

mRNA:increased expression:aorta (rat)
DNA:frameshift mutation:cds:p.S185_T195del rs333 (human)

PMID:12680626 PMID:20044442

RGD:1581182 RGD:4890416

NCBI chr22:7,803,794...7,818,112

G

CD14 molecule

associated with Glomerulonephritis, IGA; DNA:polymorphism: :-159C>T (human)

NCBI chr23:43,264,917...43,266,825
Ensembl chr23:43,264,336...43,266,993

G

CD36 molecule (CD36 blood group)

CTD Direct Evidence: marker/mechanism

NCBI chr21:68,214,875...68,309,336
Ensembl chr21:68,216,201...68,268,669

G

CD82 molecule

mRNA:increased expression:thymus

NCBI chr 1:20,736,216...20,793,943
Ensembl chr 1:20,735,287...20,763,160

G

cysteine dioxygenase type 1

protein:decreased expression:brain

NCBI chr23:19,049,612...19,061,783
Ensembl chr23:19,049,262...19,061,740

G

cholesteryl ester transfer protein

CTD Direct Evidence: marker/mechanism

NCBI chr 5:42,909,994...42,936,277
Ensembl chr 5:42,910,226...42,936,277

G

chromogranin A

no_association

protein:creased expression:adrenal gland
mRNA, protein:increased expression:adrenal gland medulla, plasma
DNA:polymorphisms:promoter

PMID:10803489 PMID:20113265 PMID:20729505 PMID:21061160

RGD:6906897 RGD:6906900 RGD:6906902 RGD:6907055

NCBI chr24:70,663,040...70,675,827
Ensembl chr24:70,663,298...70,677,116

G

chitinase 3 like 1

mRNA:increased expression:brainstem, solitary tract nucleus (rat)

NCBI chr25:26,160,993...26,169,005
Ensembl chr25:26,160,961...26,169,566

G

carbohydrate sulfotransferase 12

mRNA:decreased expression:renal cortex and medulla (rat)

NCBI chr28:19,174,283...19,200,564
Ensembl chr28:19,174,502...19,175,746

G

claudin 16

Protein:decreased serine phosphorylation:kidney

NCBI chr15:84,529,660...84,619,707
Ensembl chr15:84,593,857...84,619,660

G

clock circadian regulator

mRNA:altered expression:gastrocnemius muscle (rat)

NCBI chr 7:13,015,198...13,134,741
Ensembl chr 7:13,051,454...13,127,240

G

clusterin

DNA:SNP:exon:866C>T (human)

NCBI chr 8:25,704,441...25,721,789
Ensembl chr 8:25,703,257...25,721,789

G

chymase 1

CTD Direct Evidence: marker/mechanism

NCBI chr24:1,471,767...1,475,062
Ensembl chr24:1,471,725...1,474,692

G

cannabinoid receptor 1

NCBI chr13:12,626,259...12,653,253
Ensembl chr13:12,630,270...12,631,688

G

collagen type I alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr16:43,134,648...43,152,313
Ensembl chr16:43,134,779...43,150,930

G

collagen type III alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr10:74,455,133...74,493,392

G

collagen type IV alpha 5 chain

ClinVar Annotator: match by term: Hypertension

PMID:9848783 PMID:11223851 PMID:12028435 PMID:14514738 PMID:17396119 More...

NCBI chr X:96,307,927...96,570,592

G

collagen type VI alpha 3 chain

DNA:SNP:CDS:E1386K (rs146092501) (human)

NCBI chr10:123,326,337...123,418,836
Ensembl chr10:123,327,102...123,400,114

G

catechol-O-methyltransferase

susceptibility

protein:increased expression:cerebral cortex
DNA:polymorphism: :-1187G>C, 186C>T

PMID:14714585 PMID:17143180 PMID:17510509 PMID:17978496

RGD:2289729 RGD:2289742 RGD:2289787 RGD:8662344

NCBI chr19:5,775,829...5,803,260
Ensembl chr19:5,773,225...5,785,422

G

corin, serine peptidase

DNA:SNPs:associated with increased risk

PMID:16216958 PMID:17485366

RGD:1581219 RGD:1626338

NCBI chr27:2,407,451...2,662,855
Ensembl chr27:2,408,219...2,662,279

G

cytochrome c oxidase subunit 5B

protein:decreased expression:heart left ventricle

NCBI chr14:1,331,853...1,334,144

G

carbamoyl-phosphate synthase 1

protein:decreased expression:liver, mitochondrion

NCBI chr10:96,267,890...96,392,393
Ensembl chr10:96,267,889...96,392,206

G

cAMP responsive element binding protein 1

treatment

NCBI chr10:93,316,774...93,395,187
Ensembl chr10:93,316,840...93,388,832

G

corticotropin releasing hormone receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr21:27,703,637...27,738,873
Ensembl chr21:27,708,113...27,739,116

G

C-reactive protein

CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma
protein:increased expression:serum:

PMID:6720266 PMID:14620923 PMID:16680063 PMID:19056836 PMID:19770776 More...

RGD:5131461 RGD:9491754 RGD:9586008

NCBI chr20:4,232,262...4,235,826
Ensembl chr20:4,232,913...4,235,377

G

cathepsin C

NCBI chr 1:79,426,556...79,468,464
Ensembl chr 1:79,426,549...79,468,340

G

cytochrome b-245 beta chain

Protein:increased expression:brain
CTD Direct Evidence: marker/mechanism

PMID:12472782 PMID:16685210 PMID:21593737 PMID:27659729 PMID:27847271 More...

G

cytochrome P450 family 11 subfamily A member 1

mRNA:increased expression:hypothalamus

NCBI chr26:9,122,008...9,151,844

G

cytochrome P450 family 11 subfamily B member 1

mRNA:increased expression:brainstem, hippocampus, cortex (rat)

PMID:18495825 PMID:19837774

RGD:2307304 RGD:4891156

NCBI chr 8:137,125,409...137,132,267

G

cytochrome P450 family 19 subfamily A member 1

mRNA:decreased expression:ovary (rat)

NCBI chr26:32,074,260...32,164,926
Ensembl chr26:32,132,425...32,164,277

G

cytochrome P450 family 1 subfamily A member 1

treatment

CTD Direct Evidence: marker/mechanism

PMID:20634294 PMID:22995157 PMID:23528973 PMID:30127255 PMID:31489946

RGD:401793709 RGD:401793732 RGD:401793758 RGD:7257731

NCBI chr26:8,753,236...8,759,378
Ensembl chr26:8,753,327...8,759,384

G

cytochrome P450 family 1 subfamily B member 1

treatment

NCBI chr14:69,318,713...69,327,277
Ensembl chr14:69,319,495...69,324,157

G

cytochrome P450 family 2 subfamily C member 9

associated with Diabetes Mellitus, Insulin-Dependent; DNA:polymorphism:cds:I359L (human)

PMID:17305793 PMID:18829737 PMID:19669737

RGD:2307150 RGD:6903909 RGD:6903915

NCBI chr 9:88,082,124...88,125,390

G

cytochrome P450 family 2 subfamily J member 2

susceptibility

DNA:SNP

PMID:17286575 PMID:20501636

RGD:1625379 RGD:7243136

NCBI chr20:73,083,312...73,115,174
Ensembl chr20:73,083,389...73,115,077

G

cytochrome P450 family 2 subfamily R member 1

DNA:SNP:CDS: rs12794714 (human)
DNA:SNP:CDS:rs10741657|rs12794714 (human)
DNA:SNP:CDS:rs1993116|rs10741657 (human)
DNA:SNP:CDS:rs12794714 (human)

PMID:24974252 PMID:28760944 PMID:30192652 PMID:34906413

RGD:401900724 RGD:401901076 RGD:401901082 RGD:401901148

NCBI chr 1:50,030,366...50,043,833
Ensembl chr 1:50,031,218...50,047,403

G

aspartyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: Hypertension

PMID:16199547 PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 More...

NCBI chr25:55,334,669...55,367,257
Ensembl chr25:55,332,340...55,367,248

G

dopamine beta-hydroxylase

resistance

DNA:polymorphism:5' utr:g.-2073C>T rs1989787 (human)
mRNA:increased expression:heart, adrenal gland (rat)

PMID:20596792 PMID:20814407

RGD:5129211 RGD:5129234

NCBI chr12:4,474,041...4,498,942
Ensembl chr12:4,474,958...4,498,910

G

dimethylarginine dimethylaminohydrolase 1

susceptibility

NCBI chr20:47,788,410...48,031,868
Ensembl chr20:47,891,289...48,032,343

G

iodothyronine deiodinase 2

susceptibility

protein:substitution:Thr92Ala

NCBI chr24:57,521,806...57,536,508

G

dopamine receptor D1

PMID:8636408 PMID:10948075

RGD:1300303 RGD:1580869

NCBI chr23:77,587,340...77,591,434

G

dopamine receptor D2

DNA:polymorphism
CTD Direct Evidence: marker/mechanism

PMID:11494094 PMID:11566895 PMID:15939106

RGD:1580874 RGD:1600905

NCBI chr 1:104,774,632...104,843,417
Ensembl chr 1:104,774,180...104,842,736

G

dopamine receptor D3

PMID:9691085 PMID:11675403

RGD:1580882 RGD:734898

NCBI chr22:66,683,987...66,737,645
Ensembl chr22:66,691,177...66,736,690

G

dopamine receptor D5

NCBI chr27:40,267,681...40,270,061
Ensembl chr27:40,268,235...40,269,671

G

dual specificity phosphatase 1

mRNA, protein:increased expression:aorta

NCBI chr23:74,931,421...74,934,510
Ensembl chr23:74,929,863...74,934,532

G

dual specificity phosphatase 5

CTD Direct Evidence: marker/mechanism

NCBI chr 9:103,435,015...103,449,100
Ensembl chr 9:103,435,343...103,449,171

G

dynein light chain LC8-type 1

treatment

NCBI chr11:115,851,020...115,855,526
Ensembl chr11:115,851,381...115,851,647

G

endothelin converting enzyme 1

CTD Direct Evidence: marker/mechanism
mRNA,protein:increased expression,increased activity:kidney medulla

PMID:10894793 PMID:12193123 PMID:12566389 PMID:15126915

RGD:1580904 RGD:1580907 RGD:7244182

NCBI chr20:111,212,567...111,342,755
Ensembl chr20:111,212,594...111,342,821

G

endothelin 1

associated with Diabetic Nephropathies;protein:increased secretion:plasma
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:exon:p.K198N (human)
human gene in a rat model
protein:increased secretion:plasma (rat)

PMID:7721406 PMID:8152482 PMID:8440307 PMID:10474778 PMID:10669576 More...

RGD:1625065 RGD:2313283 RGD:4144829 RGD:8661804

NCBI chr17:59,854,186...59,861,319
Ensembl chr17:59,853,699...59,861,198

G

endothelin 2

mRNA:increased expression:leukocyte

PMID:10489105 PMID:10976780 PMID:15007037

RGD:1580916 RGD:1580917 RGD:1625402

NCBI chr20:91,425,979...91,432,609
Ensembl chr20:91,426,747...91,431,973

G

endothelin 3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:4,814,447...4,839,950
Ensembl chr 2:4,814,140...4,839,626

G

endothelin receptor type A

associated with Uremia
CTD Direct Evidence: marker/mechanism

PMID:12600921 PMID:14616768 PMID:16157796 PMID:20144075

RGD:1580950 RGD:1581830 RGD:4892284

NCBI chr 7:93,980,983...94,043,863
Ensembl chr 7:93,985,797...94,042,296

G

endothelin receptor type B

associated with Uremia

PMID:10749572 PMID:20144075

RGD:4892284 RGD:628518

NCBI chr 3:56,969,493...56,993,719
Ensembl chr 3:56,969,101...56,992,731

G

epidermal growth factor receptor

mRNA, protein:increased expression:renal cortex

NCBI chr21:3,664,622...3,853,492
Ensembl chr21:3,666,339...3,853,239

G

egl-9 family hypoxia inducible factor 1

NCBI chr25:68,624,754...68,685,961
Ensembl chr25:68,625,260...68,682,804

G

eukaryotic translation initiation factor 4 gamma 2

mRNA:increased expression:heart left ventricle

NCBI chr 1:54,017,587...54,029,491
Ensembl chr 1:54,017,696...54,028,843

G

elastin

CTD Direct Evidence: marker/mechanism

NCBI chr28:8,999,164...9,048,703

G

elastin microfibril interfacer 1

NCBI chr14:80,531,973...80,539,820

G

endoglin

mRNA:decreased expression:kidney (rat)

NCBI chr12:10,274,705...10,315,715
Ensembl chr12:10,275,064...10,315,040

G

enolase 1

NCBI chr20:122,884,846...122,902,669
Ensembl chr20:122,884,727...122,903,372

G

enolase 2

severity

protein:increased expression:serum

NCBI chr11:6,945,243...6,954,959
Ensembl chr11:6,945,413...6,957,304

G

ectonucleoside triphosphate diphosphohydrolase 2

NCBI chr12:1,137,500...1,142,798
Ensembl chr12:1,137,495...1,143,231

G

E1A binding protein p300

protein:increased expression:left ventricle (rat)

NCBI chr19:23,634,132...23,726,095
Ensembl chr19:23,634,571...23,724,979

G

epoxide hydrolase 2

susceptibility

DNA:missense mutation:cds:p.K55R (human)

PMID:11001943 PMID:16157792 PMID:19553349 PMID:20065888 PMID:21720266

RGD:1580985 RGD:1580987 RGD:5688727 RGD:5688730 RGD:5688733

NCBI chr 8:25,603,668...25,659,232
Ensembl chr 8:25,603,735...25,659,345

G

erythropoietin

CTD Direct Evidence: marker/mechanism

PMID:1516988 PMID:10694834

NCBI chr28:12,487,222...12,491,986
Ensembl chr28:12,489,766...12,491,908

G

erythropoietin receptor

susceptibility

induced by erythropoietin;

NCBI chr 6:10,313,382...10,320,196
Ensembl chr 6:10,313,775...10,320,066

G

endoplasmic reticulum aminopeptidase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:90,591,198...90,642,331
Ensembl chr 4:90,600,690...90,637,563

G

estrogen receptor 2

PMID:11185739 PMID:11799247 PMID:15167447 PMID:23608653

RGD:1581015 RGD:1581017 RGD:734949 RGD:7364951

NCBI chr24:41,426,333...41,513,802
Ensembl chr24:41,447,224...41,512,486

G

coagulation factor XI

CTD Direct Evidence: marker/mechanism

NCBI chr 7:132,180,026...132,207,081
Ensembl chr 7:132,180,336...132,208,155

G

F11 receptor

susceptibility

DNA:SNPs: :rs790056, rs2774276 (human)

PMID:17420334 PMID:18067551

RGD:7488938 RGD:7488939

NCBI chr20:2,966,019...2,986,177
Ensembl chr20:2,966,164...2,984,269

G

coagulation factor XII

ClinVar Annotator: match by term: Hypertension

PMID:16638441 PMID:25741868

NCBI chr23:79,414,074...79,438,896
Ensembl chr23:79,414,225...79,432,298

G

coagulation factor II thrombin receptor

NCBI chr 4:70,992,406...71,010,512
Ensembl chr 4:70,992,477...71,009,456

G

coagulation factor III, tissue factor

treatment

NCBI chr20:38,726,690...38,738,457
Ensembl chr20:38,726,798...38,739,408

G

coagulation factor VII

protein:increased activity:plasma (rat)
protein:increased activity:plasma (human)

PMID:812575 PMID:8123879 PMID:10450539

RGD:2312323 RGD:2312402 RGD:2312412

NCBI chr 3:91,109,864...91,122,707
Ensembl chr 3:91,110,380...91,123,327

G

fatty acid binding protein 1

protein:increased excretion:urine:possibly related to arteriosclerosis (MeSH:D001161)

NCBI chr14:18,660,058...18,666,730
Ensembl chr14:18,659,836...18,667,127

G

fatty acid binding protein 3

susceptibility

DNA:SNPs

NCBI chr20:101,464,899...101,472,223
Ensembl chr20:101,464,960...101,474,350

G

Fas associated via death domain

treatment

NCBI chr 1:4,358,314...4,361,863

G

fatty acid desaturase 1

NCBI chr 1:12,037,173...12,051,907
Ensembl chr 1:12,037,513...12,055,159

G

fumarylacetoacetate hydrolase

mRNA:decreased expression:kidney

NCBI chr26:3,223,327...3,259,367
Ensembl chr26:3,223,079...3,258,657

G

fibrillin 1

protein:increased expression:renal glomerulus (rat)

NCBI chr26:34,637,916...34,877,499
Ensembl chr26:34,638,838...34,879,217

G

fibroblast growth factor 2

associated with Aortic Coarctation

NCBI chr 7:70,089,394...70,157,423

G

fibroblast growth factor 21

CTD Direct Evidence: therapeutic

NCBI chr 6:42,006,125...42,008,749
Ensembl chr 6:42,006,064...42,008,736

G

flavin containing dimethylaniline monoxygenase 3

no_association

DNA:polymorphism:CDS:no association with any of the four common genotypes or haplotypes in a Caucasian population
DNA:nonsense mutation:CDS:amino acid E305X, associated with trimethylaminuria, OMIM:602079

PMID:9536088 PMID:16324215

RGD:1626461 RGD:1626466

NCBI chr25:57,971,737...57,995,850
Ensembl chr25:57,969,234...57,995,613

G

fibronectin 1

CTD Direct Evidence: marker/mechanism
mRNA:increased expression:kidney (SHRSP/A3N rat)

PMID:11682445 PMID:11907153 PMID:17324946

RGD:28912746 RGD:30296650

NCBI chr10:101,177,867...101,254,613
Ensembl chr10:101,176,789...101,254,633

G

fibronectin type III domain containing 5

CTD Direct Evidence: therapeutic

NCBI chr20:99,997,627...100,007,819

G

Fos proto-oncogene, AP-1 transcription factor subunit

CTD Direct Evidence: marker/mechanism

PMID:12044476 PMID:16696897 PMID:24039778

NCBI chr24:52,497,465...52,501,161
Ensembl chr24:52,497,521...52,501,514

G

forkhead box P3

treatment

NCBI chr X:46,349,890...46,365,133

G

FTO alpha-ketoglutarate dependent dioxygenase

associated with Obesity
DNA:SNP:intron:rs9302652 (human)

PMID:20031594 PMID:31801409

RGD:329812016 RGD:329901765

NCBI chr 5:39,487,304...39,900,238
Ensembl chr 5:39,487,418...39,725,747

G

FXYD domain containing ion transport regulator 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:109,187,301...109,199,729
Ensembl chr 1:109,186,886...109,198,267

G

gamma-aminobutyric acid type B receptor subunit 1

mRNA:increased expression:brain

NCBI chr17:42,985,816...43,017,278
Ensembl chr17:42,986,513...43,014,577

G

glutamate decarboxylase 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:56,351,495...56,396,476
Ensembl chr10:56,353,253...56,396,524

G

galanin and GMAP prepropeptide

mRNA:decreased expression:paraventricular hypothalamic nucleus, solitary tract nucleus
CTD Direct Evidence: marker/mechanism

PMID:10818254 PMID:15275958

NCBI chr 1:5,849,947...5,857,355
Ensembl chr 1:5,849,952...5,857,072

G

GATA binding protein 5

susceptibility

DNA:SNPs:intron, exon:rs6061245,rs6587239 (human)

NCBI chr 2:1,756,911...1,769,452
Ensembl chr 2:1,757,420...1,768,143

G

glucagon

CTD Direct Evidence: marker/mechanism

NCBI chr10:47,550,097...47,560,610

G

GTP cyclohydrolase 1

treatment
sexual_dimorphism

CTD Direct Evidence: marker/mechanism
mRNA:decreased expression:aorta
DNA:SNV:3' UTR: 59038C>T (rs841, +243C>T) (human)

PMID:12623977 PMID:12855421 PMID:12925450 PMID:15167268 PMID:17717598 More...

RGD:329961329 RGD:329961330 RGD:329970288 RGD:401700394 RGD:401700397

NCBI chr24:32,029,997...32,079,656
Ensembl chr24:32,027,648...32,079,490

G

glucokinase

susceptibility

NCBI chr21:14,475,723...14,523,086
Ensembl chr21:14,507,902...14,523,850

G

glutamate-cysteine ligase catalytic subunit

CTD Direct Evidence: marker/mechanism

NCBI chr17:19,012,994...19,060,617
Ensembl chr17:19,013,026...19,060,659

G

growth hormone secretagogue receptor

associated with Obesity

NCBI chr15:17,008,185...17,013,504
Ensembl chr15:17,009,369...17,012,618

G

gap junction protein alpha 1

treatment

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:16448880 PMID:23719203 PMID:36720419

RGD:7207810 RGD:8662439

NCBI chr13:52,397,291...52,410,341
Ensembl chr13:52,396,109...52,410,339

G

gap junction protein alpha 4

CTD Direct Evidence: marker/mechanism

NCBI chr20:98,092,282...98,095,036
Ensembl chr20:98,092,785...98,093,786

G

gap junction protein alpha 5

treatment

CTD Direct Evidence: marker/mechanism
protein:decreased expression:artery endothelium

PMID:11821709 PMID:19109587 PMID:19686729

RGD:7207417 RGD:7207848

G

gap junction protein gamma 1

CTD Direct Evidence: therapeutic

NCBI chr16:61,575,851...61,596,488
Ensembl chr16:61,594,885...61,596,075

G

glucuronic acid epimerase

DNA:SNP: : rs3865014 (human)

NCBI chr26:14,181,625...14,295,414
Ensembl chr26:14,184,606...14,295,372

G

glucagon like peptide 1 receptor

CTD Direct Evidence: marker/mechanism

PMID:12093887 PMID:22228705

NCBI chr17:33,053,442...33,092,806
Ensembl chr17:33,054,574...33,091,422

G

G protein subunit alpha i2

treatment

PMID:15106810 PMID:27912212

RGD:13507308 RGD:13508592

NCBI chr22:11,623,394...11,646,464
Ensembl chr22:11,623,408...11,647,191

G

G protein subunit alpha i3

treatment

NCBI chr20:23,950,819...24,000,069
Ensembl chr20:23,954,384...23,999,072

G

G protein subunit beta 3

no_association
susceptibility

CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :multiple (human)
DNA:SNP:cds: 825C>T (human)
DNA:SNP:cds:825C>T (human)

PMID:10526907 PMID:11230982 PMID:15961981 PMID:16141801 PMID:16908025

RGD:1580408 RGD:1580410 RGD:2313206

NCBI chr11:6,873,043...6,880,676
Ensembl chr11:6,874,351...6,880,179

G

gonadotropin releasing hormone 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:23,543,717...23,550,728
Ensembl chr 8:23,542,806...23,547,771

G

glycoprotein Ib platelet subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr16:4,412,693...4,415,841

G

glutathione peroxidase 1

treatment

CTD Direct Evidence: marker/mechanism
protein,mRNA:decreased_expression:mononuclear_cells:after treatment, activity increased but mRNA expression decreased further

PMID:17198913 PMID:21210316 PMID:21593737 PMID:23752977 PMID:31572179

RGD:11352825 RGD:11353777 RGD:1600704 RGD:329956417

NCBI chr22:10,754,976...10,756,617

G

glutathione peroxidase 3

treatment
susceptibility

DNA:SNP: : rs3828599 (human)
DNA:SNP: :rs3828599 (human)

PMID:21933611 PMID:23528973 PMID:32034489

RGD:401793732 RGD:401827127 RGD:401827166

NCBI chr23:53,576,950...53,585,321

G

G protein-coupled receptor kinase 2

treatment

CTD Direct Evidence: marker/mechanism
protein:increased expression:lymphocyte, vascular associated smooth muscle cell

PMID:10642272 PMID:11901213 PMID:23913704

RGD:13792716 RGD:1625788

NCBI chr 1:6,975,202...6,995,369
Ensembl chr 1:6,975,002...6,995,259

G

G protein-coupled receptor kinase 3

mRNA:increased expression:heart left ventricle, kidney (rat)

NCBI chr19:8,438,543...8,601,652
Ensembl chr19:8,438,380...8,600,359

G

G protein-coupled receptor kinase 5

mRNA:increased expression:heart left ventricle, kidney (rat)

NCBI chr 9:111,996,780...112,249,247
Ensembl chr 9:111,996,599...112,244,570

G

glycogen synthase kinase 3 beta

treatment

CTD Direct Evidence: marker/mechanism

NCBI chr22:60,732,449...61,002,735
Ensembl chr22:60,733,465...60,997,239

G

glutathione-disulfide reductase

treatment

protein,mRNA:decreased_expression:mononuclear_cells:after treatment, activity increased but mRNA expression decreased further

PMID:17198913 PMID:23528973

RGD:1600704 RGD:401793732

NCBI chr 8:28,778,713...28,851,907

G

glutathione S-transferase pi 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:6,676,897...6,679,936

G

guanylate cyclase 1 soluble subunit alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:102,206,438...102,310,535
Ensembl chr 7:102,238,477...102,303,673

G

histone H2AX

treatment

NCBI chr 1:110,466,692...110,468,776
Ensembl chr 1:110,467,775...110,468,206

G

hepatitis A virus cellular receptor 1

protein:increased expression:urine

NCBI chr23:59,422,769...59,454,183
Ensembl chr23:59,423,334...59,453,531

G

histone deacetylase 6

protein:increased expression, activity:heart:

NCBI chr X:45,927,625...45,951,636
Ensembl chr X:45,928,092...45,952,929

G

histone deacetylase 8

protein:decreased expression:heart (mouse, rat)

NCBI chr X:62,154,374...62,393,149
Ensembl chr X:62,154,365...62,393,196

G

hepatocyte growth factor

susceptibility

DNA:polymorphism:intron13:C/A

NCBI chr21:67,118,785...67,193,506
Ensembl chr21:67,120,722...67,193,504

G

hypoxia inducible factor 1 subunit alpha

CTD Direct Evidence: therapeutic
protein:increased expression:brain
Hypertension, Pregnancy-Induced;mRNA, protein:increased expression:placenta
associated with Hypercholesterolemia;protein:increased expression:aorta

PMID:11882589 PMID:15862159 PMID:16955051 PMID:22349312

RGD:1626317 RGD:1626322 RGD:1626330

NCBI chr24:38,873,830...38,927,657
Ensembl chr24:38,873,861...38,928,288

G

hexokinase 2

treatment

NCBI chr14:32,385,237...32,443,864
Ensembl chr14:32,385,249...32,442,403

G

high mobility group box 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:9,353,333...9,357,765

G

heme oxygenase 1

susceptibility
treatment

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:12215473 PMID:12872043 PMID:16959961 PMID:20836698 PMID:22349312 More...

RGD:10755717 RGD:1580453 RGD:1598400

NCBI chr19:18,144,466...18,157,944
Ensembl chr19:18,144,545...18,157,971

G

histamine receptor H2

CTD Direct Evidence: marker/mechanism

NCBI chr23:77,808,108...77,858,936
Ensembl chr23:77,807,998...77,841,467

G

histamine receptor H3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:2,019,878...2,025,218
Ensembl chr 2:2,020,286...2,025,202

G

hydroxysteroid 11-beta dehydrogenase 1

susceptibility

CTD Direct Evidence: marker/mechanism
DNA:SNP:5'utr: (rs846910) (human)

PMID:9683905 PMID:15199296 PMID:15452033 PMID:21786805

NCBI chr25:19,720,096...19,772,806
Ensembl chr25:19,719,848...19,750,200

G

hydroxysteroid 11-beta dehydrogenase 2

associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:kidney
apparent mineralocorticoid excess syndrome, OMIM:218030; DNA:transition:CDS:945C->T, amino acid R279C
CTD Direct Evidence: marker/mechanism

PMID:7670488 PMID:9683587 PMID:9683905 PMID:9707624 PMID:10792625 More...

RGD:13800514 RGD:1625078 RGD:2308925

NCBI chr 5:60,017,967...60,040,959
Ensembl chr 5:60,019,434...60,025,353

G

hydroxysteroid 17-beta dehydrogenase 4

mRNA:decreased expression:renal cortex (rat)

NCBI chr23:22,674,059...22,761,270
Ensembl chr23:22,674,072...22,762,056

G

heat shock protein family A (Hsp70) member 8

mRNA: increased expression: leukocyte

NCBI chr 1:114,447,348...114,452,693
Ensembl chr 1:114,446,544...114,451,562

G

heat shock protein family D (Hsp60) member 1

mRNA:increased expression:brain, blood vessel

PMID:15729290 PMID:18948349

RGD:10402862 RGD:1624213

NCBI chr10:83,003,266...83,017,397
Ensembl chr10:83,003,717...83,017,363

G

heparan sulfate proteoglycan 2

mRNA:increased expression:aorta

NCBI chr20:110,693,858...110,809,467
Ensembl chr20:110,693,854...110,809,466

G

5-hydroxytryptamine receptor 1B

protein:increased expression:aorta

NCBI chr13:2,143,646...2,145,943
Ensembl chr13:2,144,313...2,145,485

G

5-hydroxytryptamine receptor 2A

no_association
susceptibility

DNA:polymorphism: :g.102T>C
DNA:polymorphism: :102T>C

PMID:11378836 PMID:15659047

RGD:1624371 RGD:1624375

NCBI chr 3:24,820,029...24,884,472
Ensembl chr 3:24,820,035...24,883,432

G

5-hydroxytryptamine receptor 2B

CTD Direct Evidence: marker/mechanism

NCBI chr10:117,132,919...117,152,132
Ensembl chr10:117,133,195...117,149,681

G

HtrA serine peptidase 1

associated with Macular Degeneration; DNA:snp:cds:g.102C>T (rs1049331) (human)

NCBI chr 9:115,197,543...115,250,092
Ensembl chr 9:115,197,566...115,253,919

G

intercellular adhesion molecule 1

associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum
CTD Direct Evidence: marker/mechanism

PMID:12149661 PMID:12425201 PMID:18619052

NCBI chr 6:9,320,991...9,338,125
Ensembl chr 6:9,322,550...9,338,263

G

immediate early response 3

CTD Direct Evidence: marker/mechanism

NCBI chr17:41,712,539...41,713,895
Ensembl chr17:41,712,528...41,714,126

G

insulin like growth factor 1

severity

mRNA:increased expression:aorta (rat)
CTD Direct Evidence: marker/mechanism|therapeutic

PMID:8418983 PMID:15996002 PMID:16431135 PMID:19502719 PMID:22228705

RGD:12904968 RGD:1580474 RGD:1598427

NCBI chr11:97,624,498...97,708,730
Ensembl chr11:97,631,189...97,707,308

G

insulin like growth factor 1 receptor

protein:increased expression:aorta:

NCBI chr29:17,212,206...17,534,036
Ensembl chr29:17,459,404...17,526,930

G

insulin like growth factor binding protein 2

mRNA, protein:decreased expression:liver, plasma

NCBI chr10:102,469,611...102,503,229
Ensembl chr10:102,469,669...102,503,276

G

inhibitor of nuclear factor kappa B kinase subunit beta

treatment

CTD Direct Evidence: marker/mechanism

PMID:19246475 PMID:27659729 PMID:32147540

NCBI chr 8:40,267,532...40,325,282
Ensembl chr 8:40,268,079...40,326,381

G

interleukin 10

NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836

G

interleukin 17A

protein:increased expression:blood serum (human)

NCBI chr17:20,314,082...20,319,917
Ensembl chr17:20,315,773...20,318,785

G

interleukin 1 beta

mRNA, protein:increased expression:aorta, plasma
associated with Obesity;protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism

PMID:15894892 PMID:15990729 PMID:21173343 PMID:27292124 PMID:27659729 More...

RGD:1626635 RGD:1626638 RGD:7175338

NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729

G

interleukin 1 receptor antagonist

susceptibility

DNA:polymorphisms

PMID:11585563 PMID:11840488

RGD:1626667 RGD:1626668

NCBI chr14:16,136,667...16,152,451
Ensembl chr14:16,146,333...16,151,326

G

interleukin 6

susceptibility

associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human)
protein:increased expression:blood serum (human)
associated with end stage renal disease; DNA:polymorphisms:promoter: -174G>C (human)
CTD Direct Evidence: marker/mechanism

PMID:12846758 PMID:19043252 PMID:26502942 PMID:27292124 PMID:27659729 More...

RGD:1580485 RGD:2307283 RGD:329955577

NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237

G

interleukin 6 receptor

severity

Hypertension, Pregnancy-Induced;protein:increased expression:serum

NCBI chr20:9,345,723...9,418,963
Ensembl chr20:9,361,152...9,396,610

G

interleukin 6 cytokine family signal transducer

severity

Hypertension, Pregnancy-Induced;protein:increased expression:serum

NCBI chr 4:52,174,893...52,232,475
Ensembl chr 4:52,174,312...52,214,584

G

inositol polyphosphate phosphatase like 1

CTD Direct Evidence: marker/mechanism
DNA:SNPs: :rs2276047,snp8,rs9886(human)

NCBI chr 1:63,443,819...63,459,067
Ensembl chr 1:63,444,713...63,459,776

G

insulin

CTD Direct Evidence: marker/mechanism
CTD Direct Evidence: marker/mechanism|therapeutic

PMID:9095092 PMID:9719048 PMID:18360027 PMID:29211853

NCBI chr 1:1,965,128...1,969,090

G

inversin

associated with nephronophthisis 2;

NCBI chr12:39,138,586...39,333,758
Ensembl chr12:39,139,505...39,333,661

G

integrin subunit alpha 9

susceptibility

DNA:SNP: :rs155524(human)

NCBI chr15:1,585,811...1,961,798
Ensembl chr15:1,581,676...1,961,435

G

integrin subunit alpha V

protein:increased expression:artery

NCBI chr10:72,125,710...72,216,757
Ensembl chr10:72,125,962...72,216,809

G

integral membrane protein 2B

CTD Direct Evidence: marker/mechanism

NCBI chr 3:26,149,429...26,178,172
Ensembl chr 3:26,149,379...26,177,622

G

Jun proto-oncogene, AP-1 transcription factor subunit

CTD Direct Evidence: marker/mechanism

PMID:11358932 PMID:24039778

NCBI chr20:74,204,481...74,207,835
Ensembl chr20:74,205,542...74,206,546

G

potassium voltage-gated channel subfamily A member 3

protein:increased activity:T cell (human)

NCBI chr20:22,869,388...22,885,406
Ensembl chr20:22,870,880...22,872,607

G

potassium voltage-gated channel subfamily A member 5

mRNA:increased expression:heart

NCBI chr11:5,085,221...5,088,135
Ensembl chr11:5,085,518...5,087,335

G

potassium voltage-gated channel subfamily A regulatory beta subunit 1

mRNA:increased expression:aorta, arteries (rat)

NCBI chr15:34,223,250...34,467,924
Ensembl chr15:34,221,890...34,468,001

G

potassium inwardly rectifying channel subfamily J member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:119,971,282...120,040,752
Ensembl chr 1:119,969,370...119,986,411

G

potassium inwardly rectifying channel subfamily J member 11

NCBI chr 1:47,582,519...47,586,466
Ensembl chr 1:47,583,629...47,584,801

G

potassium inwardly rectifying channel subfamily J member 8

NCBI chr11:21,624,963...21,634,940
Ensembl chr11:21,624,970...21,634,042

G

potassium calcium-activated channel subfamily M regulatory beta subunit 1

CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:aorta, mesenteric artery

PMID:14551242 PMID:16293791 PMID:16814121 PMID:17700361

RGD:10412046 RGD:1298970 RGD:1581718

NCBI chr23:72,580,617...72,591,070
Ensembl chr23:72,577,813...72,591,588

G

potassium calcium-activated channel subfamily N member 4

ameliorates

mRNA, protein:increased expression:CD4-positive, alpha-beta T cell (human)
associated with Cardiac Fibrosis
protein:increased activity:T cell (human)

PMID:24524604 PMID:25715999 PMID:26502942

RGD:329955577 RGD:401794566 RGD:401794570

NCBI chr 6:37,289,088...37,316,850

G

potassium voltage-gated channel subfamily Q member 1

DNA:deletion:exon (rat)

NCBI chr 1:2,261,448...2,661,840
Ensembl chr 1:2,261,845...2,661,863

G

kinase insert domain receptor

treatment

DNA:polymorphism:cds:p.H472Q(human)

PMID:15838270 PMID:20630084

RGD:5684418 RGD:8552374

NCBI chr 7:13,435,059...13,482,236
Ensembl chr 7:13,435,096...13,482,771

G

kinesin family member 6

susceptibility

DNA:SNP, haplotype: :rs20455 (p.W719R), rs6930913 (human)

NCBI chr17:32,425,890...32,804,069
Ensembl chr17:32,510,781...32,804,554

G

klotho

treatment

mRNA,protein:decreased expression:kidney:

PMID:10892340 PMID:21051829 PMID:23225045

RGD:10403062 RGD:10403063 RGD:1581732

NCBI chr 3:11,755,015...11,799,537
Ensembl chr 3:11,755,016...11,797,596

G

kallikrein 1

no_association
susceptibility

CTD Direct Evidence: therapeutic
mRNA:decreased expression:kidney
DNA:polymorphisms

PMID:14568997 PMID:15167446 PMID:15809361 PMID:15905889 PMID:17272402

RGD:1358144 RGD:1581751 RGD:1641794 RGD:1641795

NCBI chr 6:43,867,629...43,873,364
Ensembl chr 6:43,867,596...43,872,178

G

kallikrein B1

associated with Diabetes Mellitus, Type 1; protein:increased expression:plasma:

NCBI chr 7:132,143,514...132,173,189
Ensembl chr 7:132,144,420...132,173,187

G

kininogen 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:81,002,287...81,027,893

G

KRAS proto-oncogene, GTPase

NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191

G

kynureninase

NCBI chr10:28,230,129...28,394,103
Ensembl chr10:28,230,508...28,394,076

G

lactate dehydrogenase A

treatment

NCBI chr 1:46,525,090...46,542,587

G

leptin

DNA:SNPs: :
CTD Direct Evidence: marker/mechanism

PMID:12050272 PMID:16827954 PMID:19204185 PMID:20059648 PMID:25205467 More...

RGD:5128597 RGD:5128788

NCBI chr21:97,056,913...97,071,161
Ensembl chr21:97,057,529...97,071,220

G

leptin receptor

disease_progression

CTD Direct Evidence: marker/mechanism
DNA:mutations:cds: : (rat)
DNA:polymorphisms:exons

PMID:10999797 PMID:22949526 PMID:27465994 PMID:32710530

RGD:12911217 RGD:401960103 RGD:5129161

NCBI chr20:67,454,205...67,567,524
Ensembl chr20:67,454,334...67,524,229

G

galectin 3

treatment

NCBI chr24:32,311,343...32,328,335
Ensembl chr24:32,311,271...32,328,339

G

luteinizing hormone subunit beta

CTD Direct Evidence: marker/mechanism

NCBI chr 6:42,247,254...42,248,822

G

lipase E, hormone sensitive type

gestational hypertension;DNA:polymorphism:promoter:-60C>G

NCBI chr 6:36,604,822...36,630,648
Ensembl chr 6:36,605,126...36,630,376

G

lipase G, endothelial type

NCBI chr18:31,368,189...31,395,103
Ensembl chr18:31,368,857...31,394,278

G

sodium/hydrogen exchanger 3

PMID:11880335 PMID:12372791

RGD:727447 RGD:737665

NCBI chr 4:362,417...408,113
Ensembl chr 4:365,135...408,033

G

C-X-C chemokine receptor type 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:104,012,906...104,025,599
Ensembl chr10:104,022,811...104,023,893

G

cystathionine beta-synthase

CTD Direct Evidence: marker/mechanism

NCBI chr 2:86,905,104...86,933,780

G

peroxisome proliferator-activated receptor alpha

treatment

mRNA:increased expression:skeletal muscle

PMID:15967866 PMID:19763017 PMID:31489946

RGD:1580222 RGD:2313778 RGD:401793758

NCBI chr19:28,614,892...28,709,272
Ensembl chr19:28,615,413...28,708,763

G

glutathione S-transferase Mu 1

mRNA:decreased expression:kidney (rat)

NCBI chr20:23,854,969...23,861,634

G

chloride channel protein ClC-Kb

no_association

DNA:polymorphism:T481S

PMID:15148291 PMID:16003175

RGD:1600683 RGD:1600684

NCBI chr20:116,241,589...116,255,452
Ensembl chr20:116,241,569...116,254,280

G

cardiotrophin-1

mRNA:increased expression:cardiac ventricle
protein:increased expression:plasma

PMID:8604995 PMID:15716706

RGD:1626411 RGD:69823

NCBI chr 5:27,579,175...27,586,779
Ensembl chr 5:27,579,987...27,585,759

G

myosin-7

CTD Direct Evidence: marker/mechanism
protein:decreased expression:heart left ventricle, arteriole

PMID:9686760 PMID:32147540

NCBI chr29:23,783,610...23,804,981
Ensembl chr29:23,783,557...23,799,771

G

metalloproteinase inhibitor 1

mRNA, protein:increased expression:kidney

NCBI chr X:44,759,412...44,763,243
Ensembl chr X:44,760,531...44,765,571

G

cytochrome b-245 light chain

protein:increased expression:kidney cortex
CTD Direct Evidence: marker/mechanism

PMID:12729892 PMID:16685210 PMID:17109653 PMID:17324946 PMID:20018820 More...

RGD:1580276 RGD:2317853 RGD:4775206

NCBI chr 5:74,023,134...74,030,793
Ensembl chr 5:74,023,082...74,030,750

G

myoblast determination protein 1

mRNA:decreased expression:gastrocnemius

NCBI chr 1:47,250,927...47,254,572
Ensembl chr 1:47,251,551...47,253,284

G

calcitonin

CTD Direct Evidence: therapeutic

PMID:1849535 PMID:9887042

NCBI chr 1:49,946,574...49,956,010
Ensembl chr 1:49,951,694...49,954,092

G

corticotropin-releasing factor receptor 1

corticotropin releasing hormone-induced

NCBI chr16:60,070,156...60,120,857
Ensembl chr16:60,070,066...60,120,712

G

neuroendocrine secretory protein 55

CTD Direct Evidence: marker/mechanism

PMID:9506701 PMID:12215464

NCBI chr 2:5,233,893...5,303,433
Ensembl chr 2:5,233,874...5,249,192

G

lysyl oxidase

PMID:24127 PMID:8562290

RGD:1581896 RGD:1581899

NCBI chr23:25,158,458...25,172,763
Ensembl chr23:25,157,269...25,172,757

G

lipoprotein lipase

CTD Direct Evidence: marker/mechanism

PMID:16132104 PMID:22228705

NCBI chr 8:18,009,049...18,038,315
Ensembl chr 8:18,009,093...18,038,598

G

LDL receptor related protein 2

protein:altered localization:apical plasma membrane

NCBI chr10:54,672,876...54,889,374
Ensembl chr10:54,711,517...54,889,208

G

lymphotoxin alpha

no_association

G

lactotransferrin

CTD Direct Evidence: therapeutic

NCBI chr22:7,867,332...7,896,403
Ensembl chr22:7,867,286...7,894,521

G

microtubule associated protein 1 light chain 3 alpha

NCBI chr 2:38,857,235...38,858,955
Ensembl chr 2:38,857,299...38,858,505

G

mitogen-activated protein kinase 8

NCBI chr 9:43,356,603...43,489,066
Ensembl chr 9:43,356,308...43,393,425

G

MAS1 proto-oncogene, G protein-coupled receptor

associated with Sleep Apnea Syndromes

NCBI chr13:87,520,860...87,523,523
Ensembl chr13:87,521,947...87,523,098

G

melanocortin 2 receptor

CTD Direct Evidence: marker/mechanism

NCBI chr18:72,286,380...72,296,607
Ensembl chr18:72,288,224...72,289,105

G

malate dehydrogenase 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:43,406,502...43,425,525
Ensembl chr14:43,406,499...43,425,095

G

mitofusin 2

treatment

protein:decreased expression:aorta (rat)

PMID:25464244 PMID:27847271

RGD:12910764 RGD:13204764

NCBI chr20:119,787,700...119,818,455
Ensembl chr20:119,787,370...119,816,693

G

major histocompatibility complex, class II, DQ alpha 1

DNA:polymorphisms (human)

NCBI chr17:39,422,445...39,428,777
Ensembl chr17:39,420,134...39,428,871

G

macrophage migration inhibitory factor

NCBI chr19:7,000,837...7,001,700
Ensembl chr19:7,000,793...7,001,757

G

membrane metalloendopeptidase

treatment

NCBI chr15:35,577,460...35,681,730
Ensembl chr15:35,580,714...35,633,914

G

matrix metallopeptidase 1

protein:decreased expression:renal glomerulus (human)

PMID:15363819 PMID:19506087

RGD:1582532 RGD:2312464

NCBI chr 1:94,167,507...94,177,357
Ensembl chr 1:94,167,219...94,176,767

G

matrix metallopeptidase 2

mRNA, protein:increased expression:kidney
CTD Direct Evidence: marker/mechanism

PMID:16840178 PMID:17977875 PMID:18836702

RGD:1582612 RGD:2290351

NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004

G

matrix metallopeptidase 7

treatment

NCBI chr 1:93,889,189...93,901,077
Ensembl chr 1:93,889,198...93,899,587

G

matrix metallopeptidase 9

susceptibility

CTD Direct Evidence: marker/mechanism
protein:decreased expression:internal mammary artery
associated with Aneurysm, Dissecting;DNA:polymorphism:promoter:-1562C>T

PMID:15363819 PMID:16780738 PMID:16840178 PMID:17977875 PMID:21051829

RGD:1582532 RGD:1582612 RGD:1642029 RGD:2290351

NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712

G

Mov10 RNA helicase

susceptibility

DNA:SNP: :rs2932538(human)

NCBI chr20:20,939,052...20,966,843
Ensembl chr20:20,939,300...20,965,140

G

msh homeobox 2

NCBI chr23:76,873,499...76,879,935
Ensembl chr23:76,873,669...76,879,553

G

mechanistic target of rapamycin kinase

CTD Direct Evidence: marker/mechanism
protein:increased serine phosphorylation:kidney

PMID:19289642 PMID:23323219

NCBI chr20:120,522,667...120,678,988
Ensembl chr20:120,525,737...120,679,020

G

myotrophin

PMID:12031792 PMID:12419325

RGD:1581046 RGD:632799

NCBI chr21:104,605,924...104,657,664
Ensembl chr21:104,605,592...104,657,866

G

5-methyltetrahydrofolate-homocysteine methyltransferase

NCBI chr25:73,935,666...74,039,872
Ensembl chr25:73,935,225...74,038,741

G

microsomal triglyceride transfer protein

onset

DNA:polymorphism:promoter:-493G>T

NCBI chr 7:47,706,591...47,765,154
Ensembl chr 7:47,717,089...47,765,149

G

myosin binding protein H

DNA:missense mutations:cds:p.I?T, p.R?K (rat)

NCBI chr25:26,172,236...26,180,502
Ensembl chr25:26,172,495...26,179,656

G

MYD88 innate immune signal transduction adaptor

CTD Direct Evidence: marker/mechanism

NCBI chr15:1,276,804...1,281,811
Ensembl chr15:1,276,798...1,281,166

G

myosin VI

protein:altered localization:renal proximal tubule, microvillus

NCBI chr13:527,361...620,418
Ensembl chr13:457,495...618,858

G

neutrophil cytosolic factor 1

CTD Direct Evidence: marker/mechanism

PMID:16331104 PMID:17324946 PMID:19018797 PMID:32165127

NCBI chr28:8,334,172...8,349,828
Ensembl chr28:8,332,772...8,349,804

G

neutrophil cytosolic factor 2

protein:increased expression:heart left ventricle

NCBI chr25:45,770,370...45,807,064
Ensembl chr25:45,770,641...45,806,515

G

NEDD4 like E3 ubiquitin protein ligase

CTD Direct Evidence: marker/mechanism

PMID:18524855 PMID:23348737

NCBI chr18:21,326,276...21,683,817
Ensembl chr18:21,327,567...21,683,905

G

NFE2 like bZIP transcription factor 2

treatment

CTD Direct Evidence: marker/mechanism

PMID:23528973 PMID:23775684 PMID:32165127

RGD:10412717 RGD:401793732

NCBI chr10:62,789,647...62,825,651
Ensembl chr10:62,790,124...62,825,339

G

NFKB inhibitor alpha

treatment

NCBI chr24:12,211,619...12,216,185
Ensembl chr24:12,210,281...12,214,854

G

nerve growth factor

NCBI chr20:18,361,795...18,413,987
Ensembl chr20:18,413,108...18,413,833

G

nerve growth factor receptor

DNA,protein:missense mutation:CDS:c.28G>A, p.A10T (rat strains: SHR/Izm, SHRSP/Izm, WKHT)

NCBI chr16:69,894,000...69,914,209
Ensembl chr16:69,894,139...69,912,189

G

NHERF family PDZ scaffold protein 1

NCBI chr16:46,889,454...46,910,776
Ensembl chr16:46,888,942...46,910,842

G

NHERF family PDZ scaffold protein 2

CTD Direct Evidence: marker/mechanism

PMID:15311100 PMID:22228705

NCBI chr 5:1,923,773...1,935,641
Ensembl chr 5:1,924,131...1,939,062

G

nischarin

NCBI chr22:13,821,026...13,860,430
Ensembl chr22:13,841,352...13,860,498

G

nitric oxide synthase 1

treatment

mRNA:decreased expression:bladder, penis

PMID:15775788 PMID:15913838 PMID:16093913 PMID:17574276 PMID:20494920 More...

RGD:1581141 RGD:1581142 RGD:1581143 RGD:1642127 RGD:401793758 RGD:5132600 RGD:7257668

NCBI chr11:112,642,374...112,673,882

G

nitric oxide synthase 2

protein:increased expression, increased activity:kidney
CTD Direct Evidence: marker/mechanism

PMID:11702222 PMID:15773227 PMID:18605955 PMID:25101153 PMID:27292124

RGD:1298023 RGD:1580264

NCBI chr16:21,533,011...21,576,645
Ensembl chr16:21,533,484...21,574,257

G

nitric oxide synthase 3

treatment
no_association

CTD Direct Evidence: marker/mechanism|therapeutic
associated with Pregnancy Complications
DNA:duplication, snp:intron, cds:IVS4?-?+27, p.E298D (human)
protein:decreased phosphorylation:brain
DNA:snp:cds:p.E298D (human)

PMID:9674630 PMID:10981549 PMID:11457755 PMID:11882615 PMID:12947532 More...

RGD:13446414 RGD:13504683 RGD:1580271 RGD:1580278 RGD:1580282 RGD:2292113 RGD:401793758 RGD:4891993

NCBI chr21:119,174,829...119,196,840

G

NADPH oxidase 1

ameliorates

NCBI chr X:89,182,636...89,210,176
Ensembl chr X:89,183,264...89,209,298

G

NADPH oxidase 4

protein:increased expression:aorta, vascular associated smooth muscle cell
CTD Direct Evidence: marker/mechanism

PMID:18418428 PMID:26644237 PMID:27659729 PMID:27847271 PMID:32147540

RGD:11085830 RGD:2324669

NCBI chr 1:80,470,418...80,642,513
Ensembl chr 1:80,470,826...80,642,722

G

nephrocystin 3

associated with nephronophthisis;

NCBI chr15:57,550,878...57,629,106
Ensembl chr15:57,551,189...57,592,661

G

natriuretic peptide A

protein:increased expression:plasma:
CTD Direct Evidence: marker/mechanism|therapeutic

RGD
MouseDO
CTD

PMID:2526952 PMID:7839143 PMID:8188982 PMID:9869009 PMID:12940879 More...

NCBI chr20:119,942,412...119,946,211
Ensembl chr20:119,944,532...119,945,917

G

natriuretic peptide B

susceptibility
treatment

DNA:repeats
CTD Direct Evidence: marker/mechanism|therapeutic

PMID:9194512 PMID:11897768 PMID:17554401 PMID:19219041 PMID:21403100 More...

RGD:1642191 RGD:5685657 RGD:70484

NCBI chr20:119,930,931...119,933,391
Ensembl chr20:119,932,021...119,933,197

G

natriuretic peptide C

severity

associated with Pregnancy Complications;protein:increased expression:plasma

PMID:11775888 PMID:12452325

RGD:1580150 RGD:1642292

NCBI chr10:117,919,889...117,924,306
Ensembl chr10:117,919,760...117,924,273

G

natriuretic peptide receptor 1

DNA:repeat:promoter: (rat)
CTD Direct Evidence: marker/mechanism

PMID:12511524 PMID:20881240

NCBI chr20:10,115,319...10,131,933
Ensembl chr20:10,115,105...10,131,200

G

natriuretic peptide receptor 3

DNA:snp:promoter:g.-55C>A (human)

NCBI chr 4:31,984,712...32,062,593
Ensembl chr 4:31,986,217...32,062,199

G

neuroplastin

CTD Direct Evidence: marker/mechanism

NCBI chr26:9,852,592...9,924,952
Ensembl chr26:9,852,658...9,926,109

G

neuropeptide Y

DNA:missense mutation:cds:p.L7P (human)

PMID:11689216 PMID:15699473 PMID:18835922

RGD:10448968 RGD:1357410 RGD:1580177

NCBI chr21:34,068,533...34,076,205
Ensembl chr21:34,068,530...34,075,127

G

neuropeptide Y receptor Y1

NCBI chr 7:109,774,700...109,794,543
Ensembl chr 7:109,774,918...109,776,905

G

NAD(P)H quinone dehydrogenase 1

treatment
susceptibility

DNA:SNP,haplotype:: p.P187S (rs1800566) (human)

PMID:21502369 PMID:25529925

RGD:11035215 RGD:401827819

NCBI chr 5:57,676,547...57,695,434
Ensembl chr 5:57,675,981...57,716,599

G

nuclear receptor subfamily 2 group F member 2

NCBI chr29:14,889,526...14,901,848
Ensembl chr29:14,891,737...14,903,813

G

nuclear receptor subfamily 3 group C member 1

associated with fetal nutrition disorder
CTD Direct Evidence: marker/mechanism

PMID:18434569 PMID:20659135 PMID:20674672

RGD:4892208 RGD:7174714

NCBI chr23:45,904,926...46,031,804
Ensembl chr23:45,904,873...46,031,125

G

neurotrimin

treatment

DNA:SNPs: :rs2511774, rs139945292, rs80175218

NCBI chr 1:122,405,280...123,378,287
Ensembl chr 1:123,182,630...123,379,429

G

nudix hydrolase 1

NCBI chr28:19,332,014...19,340,538
Ensembl chr28:19,327,393...19,338,665

G

8-oxoguanine DNA glycosylase

susceptibility

DNA:SNP,haplotype::p.S326C (rs1052133) (human)

NCBI chr22:45,757,414...45,763,690

G

oxidized low density lipoprotein receptor 1

mRNA:increased expression:aorta (rat)
CTD Direct Evidence: marker/mechanism

PMID:9494115 PMID:22352330

NCBI chr11:10,033,708...10,048,332
Ensembl chr11:10,033,635...10,048,256

G

OPA1 mitochondrial dynamin like GTPase

protein:increased expression:heart left ventricle (rat)

NCBI chr15:87,679,656...87,778,767
Ensembl chr15:87,679,077...87,779,102

G

ORAI calcium release-activated calcium modulator 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:116,997,375...117,012,115
Ensembl chr11:116,997,636...117,011,737

G

oxidative stress responsive kinase 1

CTD Direct Evidence: therapeutic

NCBI chr15:1,164,529...1,255,935
Ensembl chr15:1,164,528...1,255,925

G

oxytocin/neurophysin I prepropeptide

mRNA:decreased expression:paraventricular hypothalamic nucleus
CTD Direct Evidence: therapeutic

PMID:9334988 PMID:16157794 PMID:18562099

RGD:2304105 RGD:2304174

NCBI chr 2:33,749,520...33,750,981
Ensembl chr 2:33,750,108...33,750,968

G

oxytocin receptor

mRNA:decreased expression:brainstem

NCBI chr22:44,746,108...44,764,501
Ensembl chr22:44,742,419...44,763,243

G

pappalysin 1

associated with Pregnancy Complications, Cardiovascular;protein:decreased expression:serum

NCBI chr12:23,182,856...23,427,092
Ensembl chr12:23,184,704...23,427,165

G

platelet derived growth factor subunit B

NCBI chr19:21,865,792...21,888,068
Ensembl chr19:21,863,768...21,886,395

G

platelet derived growth factor receptor alpha

NCBI chr 7:14,243,291...14,307,373
Ensembl chr 7:14,241,070...14,307,422

G

platelet derived growth factor receptor beta

protein:increased tyrosine phosphorylation:glomerulus

PMID:1657776 PMID:12047046

RGD:11080972 RGD:2292214

NCBI chr23:52,724,061...52,766,264
Ensembl chr23:52,724,005...52,766,234

G

placental growth factor

associated with Pregnancy Complications, Cardiovascular;mRNA:decreased expression:placenta

NCBI chr24:52,160,904...52,174,493
Ensembl chr24:52,161,787...52,173,989

G

phosphoinositide-3-kinase regulatory subunit 1

protein:decreased expression:ventricular myocyte (rat)

PMID:18300869 PMID:19015400

RGD:4108483 RGD:4108492

NCBI chr 4:64,321,296...64,406,188
Ensembl chr 4:64,321,078...64,406,519

G

peptidylprolyl cis/trans isomerase, NIMA-interacting 1

NCBI chr 6:8,920,860...8,935,943
Ensembl chr 6:8,920,785...8,936,033

G

polycystin 1, transient receptor potential channel interacting

ClinVar Annotator: match by term: Hypertension

PMID:11115377 PMID:12482949 PMID:16430766 PMID:17574468 PMID:17582161 More...

NCBI chr 5:1,985,165...2,031,518
Ensembl chr 5:1,983,632...2,015,551

G

pyruvate kinase M1/2

treatment

NCBI chr26:11,224,332...11,255,538

G

plasminogen activator, tissue type

CTD Direct Evidence: marker/mechanism

NCBI chr 8:40,164,391...40,196,627
Ensembl chr 8:40,163,891...40,196,555

G

phospholipase C delta 1

protein:increased expression:aorta, arteriole, glomerulus
protein:increased activity:aorta

PMID:1313006 PMID:17198910

RGD:2300421 RGD:2300423

NCBI chr15:1,372,874...1,395,475
Ensembl chr15:1,373,234...1,395,711

G

pleckstrin homology domain containing A7

ameliorates

NCBI chr 1:47,933,468...48,155,749

G

plasminogen

CTD Direct Evidence: marker/mechanism

NCBI chr13:88,266,054...88,321,596
Ensembl chr13:88,268,198...88,322,644

G

phenylethanolamine N-methyltransferase

no_association

DNA:snps:5' utr:g.-390G>A, g.-184G>A rs876493 (human)
DNA:snp:5' utr:g.-390G>A (human)
protein:decreased activity:adrenal gland (rat)

PMID:14553966 PMID:17645789 PMID:20378607

RGD:5130152 RGD:5130164 RGD:5130172

NCBI chr16:66,496,290...66,498,840
Ensembl chr16:66,496,027...66,499,111

G

proopiomelanocortin

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:76749 PMID:187612 PMID:216942 PMID:323586 PMID:1316127 More...

NCBI chr14:82,491,296...82,499,289
Ensembl chr14:82,494,323...82,499,447

G

paraoxonase 1

DNA:SNP: :rs705379 (human)

NCBI chr21:53,713,434...53,739,658
Ensembl chr21:53,714,012...53,739,875

G

periostin

associated with Renal Insufficiency, Chronic; protein:increased expression:left ventricle:

NCBI chr 3:16,060,013...16,095,867
Ensembl chr 3:16,059,965...16,095,791

G

peroxisome proliferator activated receptor alpha

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:16054168 PMID:19834340

G

peroxisome proliferator activated receptor gamma

human gene in a mouse model
CTD Direct Evidence: marker/mechanism|therapeutic
protein:decreased expression:rostral ventrolateral medulla (rat)

PMID:12923396 PMID:15199296 PMID:15970297 PMID:18316027 PMID:18437150 More...

RGD:1580684 RGD:1580690 RGD:2301864 RGD:2301888 RGD:7175297

NCBI chr22:48,262,743...48,407,415
Ensembl chr22:48,275,600...48,407,418

G

pro-platelet basic protein

CTD Direct Evidence: marker/mechanism

PMID:6192689 PMID:15513305

NCBI chr 7:22,470,670...22,471,841
Ensembl chr 7:22,470,573...22,471,809

G

peptidylprolyl isomerase A

mRNA:increased expression:alveolar system (human)

NCBI chr21:13,876,099...13,883,546
Ensembl chr21:13,876,099...13,883,462

G

protein kinase AMP-activated non-catalytic subunit gamma 2

ClinVar Annotator: match by term: Hypertension

PMID:25741868 PMID:28492532

NCBI chr21:119,738,976...120,058,831
Ensembl chr21:119,738,967...119,970,972

G

protein kinase cAMP-dependent type I regulatory subunit beta

NCBI chr28:20,838,247...21,016,196
Ensembl chr28:20,853,763...21,016,257

G

protein kinase C alpha

NCBI chr16:54,638,548...55,144,372
Ensembl chr16:54,642,729...54,948,256

G

protein kinase C beta

NCBI chr 5:21,558,608...21,940,536
Ensembl chr 5:21,558,441...21,943,864

G

protein kinase C delta

protein:increased expression:heart, fibroblast
CTD Direct Evidence: marker/mechanism

PMID:10756122 PMID:15792354 PMID:23973649

RGD:1581271 RGD:1642534

NCBI chr22:14,561,401...14,592,877
Ensembl chr22:14,565,282...14,592,873

G

protein kinase C epsilon

NCBI chr14:61,022,903...61,570,390
Ensembl chr14:61,026,017...61,242,343

G

protein kinase cGMP-dependent 1

mRNA, protein:splice variant, alternative form:basilar artery

NCBI chr 9:78,858,269...80,188,163

G

prolactin releasing hormone receptor

DNA:SNP, missense mutation:promoter, cds:-62G>A, 914C>T (p.P305L) (human)

NCBI chr 9:111,399,821...111,402,946

G

protein C, inactivator of coagulation factors Va and VIIIa

CTD Direct Evidence: marker/mechanism

NCBI chr10:2,789,227...2,799,783
Ensembl chr10:2,789,277...2,799,531

G

phosphatase and tensin homolog

CTD Direct Evidence: marker/mechanism

NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146

G

prostaglandin D2 synthase

protein:increased expression:serum, urine

NCBI chr12:1,210,567...1,214,631
Ensembl chr12:1,211,487...1,214,531

G

prostaglandin I2 synthase

susceptibility

mRNA:increased expression:aortic endothelial cell (rat)
DNA:repeat:promoter:g.-6(CCGCCAGCC)3-4 (human)
DNA:SNP:exon 8:g.1117C>A (rs6095558) (human)

PMID:10577996 PMID:12372404 PMID:17070428 PMID:18056786

RGD:1298040 RGD:401959383 RGD:401959586 RGD:401960082

NCBI chr 2:14,420,318...14,484,667
Ensembl chr 2:14,441,983...14,488,264

G

prostaglandin reductase 1

mRNA:decreased expression:rostral ventrolateral medulla, paraventricular nucleus of hypothalamus, nucleus of solitary tract (rat)

NCBI chr12:27,918,990...27,999,736

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:14757778 PMID:15775781 PMID:15834289 PMID:16467505 PMID:20667508 More...

RGD:1580671 RGD:1581285

NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429

G

parathyroid hormone

protein:increased expression:serum (human)
CTD Direct Evidence: marker/mechanism

PMID:1930854 PMID:23460043

NCBI chr 1:51,327,555...51,330,810

G

protein tyrosine kinase 2

protein:increased expression:aorta

PMID:12732587 PMID:21068519

RGD:10041072 RGD:729831

NCBI chr 8:134,897,511...135,246,300

G

protein tyrosine kinase 2 beta

susceptibility

DNA:polymorphism:promoter:-22A>G
protein:increased expression:aorta

PMID:18075463 PMID:21068519

RGD:10041072 RGD:2292575

NCBI chr 8:25,437,680...25,571,594
Ensembl chr 8:25,437,564...25,571,782

G

protein tyrosine phosphatase non-receptor type 1

treatment

CTD Direct Evidence: therapeutic
associated with obesity

PMID:28899902 PMID:29562733 PMID:29859467

RGD:401976390 RGD:401976391

NCBI chr 2:13,385,681...13,459,180
Ensembl chr 2:13,387,727...13,459,105

G

protein tyrosine phosphatase receptor type C

ameliorates

associated with Cardiac Fibrosis

NCBI chr25:30,655,014...30,777,367
Ensembl chr25:30,653,044...30,777,303

G

protein tyrosine phosphatase receptor type D

treatment

DNA:SNP:enhancer: (rs10739150) (human)

NCBI chr12:70,160,253...71,237,292
Ensembl chr12:70,693,214...71,239,437

G

protein tyrosine phosphatase receptor type J

NCBI chr 1:17,137,896...17,328,836
Ensembl chr 1:17,135,907...17,328,590

G

protein tyrosine phosphatase receptor type U

susceptibility

NCBI chr20:103,497,681...103,586,494
Ensembl chr20:103,498,839...103,586,348

G

quinoid dihydropteridine reductase

protein:decreased expression:aorta smooth muscle (rat)

NCBI chr27:32,697,582...32,723,616
Ensembl chr27:32,697,599...32,723,016

G

RAD51 recombinase

treatment

NCBI chr26:42,281,085...42,319,394
Ensembl chr26:42,279,608...42,318,169

G

recombination activating 1

NCBI chr 1:28,667,996...28,701,002

G

ralA binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:68,353,823...68,415,221
Ensembl chr18:68,391,245...68,413,555

G

receptor activity modifying protein 2

susceptibility

associated with Pregnancy Complications
mRNA, protein:increased expression:heart myocardium, aorta
DNA:SNP:intron

PMID:11600589 PMID:15797661 PMID:16450076

RGD:1625300 RGD:1642679 RGD:1642682

NCBI chr16:63,526,915...63,529,697
Ensembl chr16:63,526,305...63,528,767

G

RAS guanyl releasing protein 3

NCBI chr14:73,871,343...73,950,119
Ensembl chr14:73,895,534...73,946,358

G

RNA binding fox-1 homolog 2

mRNA, protein:splice variant, increased expression:mesenteric artery (rat)

NCBI chr19:18,507,184...18,801,535

G

retinol binding protein 4

sexual_dimorphism
ameliorates

protein:increased expression:blood serum (human)

PMID:20798476 PMID:21365528 PMID:25911613

RGD:329845596 RGD:329845871 RGD:329853304

NCBI chr 9:86,831,042...86,840,668
Ensembl chr 9:86,830,957...86,840,250

G

regenerating family member 3 gamma

CTD Direct Evidence: marker/mechanism

NCBI chr14:28,213,731...28,217,299

G

RELA proto-oncogene, NF-kB subunit

CTD Direct Evidence: marker/mechanism

PMID:16840655 PMID:19018797 PMID:27659729 PMID:32147540

NCBI chr 1:8,576,059...8,585,561
Ensembl chr 1:8,576,542...8,586,516

G

renin

treatment

protein:decreased activity:plasma (mouse)
CTD Direct Evidence: marker/mechanism

PMID:45830 PMID:62162 PMID:998518 PMID:1071603 PMID:1149188 More...

RGD:1580671 RGD:1580697 RGD:401793709 RGD:6784501 RGD:6892655

NCBI chr25:25,159,816...25,193,620
Ensembl chr25:25,183,037...25,193,420

G

regulated endocrine specific protein 18

NCBI chr10:105,230,482...105,235,907
Ensembl chr10:105,230,560...105,235,766

G

resistin

DNA:SNP:3' utr:*62A>G (human)

NCBI chr 6:7,154,771...7,156,459
Ensembl chr 6:7,155,337...7,156,505

G

ring finger and FYVE like domain containing E3 ubiquitin protein ligase

mRNA,protein:increased expression:heart

NCBI chr16:28,515,393...28,593,289
Ensembl chr16:28,518,231...28,533,070

G

regulator of G protein signaling 2

CTD Direct Evidence: therapeutic

PMID:1798635 PMID:14608379 PMID:17986358

RGD:13524579 RGD:2289116

NCBI chr25:36,620,047...36,623,367
Ensembl chr25:36,619,140...36,623,308

G

regulator of G protein signaling 4

treatment

NCBI chr25:65,729,344...65,735,278
Ensembl chr25:65,726,394...65,735,381

G

regulator of G protein signaling 5

treatment

CTD Direct Evidence: therapeutic

PMID:1798635 PMID:21825230

NCBI chr25:65,608,384...65,667,811
Ensembl chr25:65,608,303...65,662,772

G

ras homolog family member A

protein:altered localization:mesenteric artery

NCBI chr22:10,757,381...10,809,257
Ensembl chr22:10,757,337...10,772,704

G

renalase, FAD dependent amine oxidase

associated with Diabetes Mellitus Type 2; DNA:SNPs: : rs2296545,rs2576178 (human)
associated with kidney Failure,Chronic;DNA:SNPs: : rs2576178, rs10887800 (human)

PMID:21178975 PMID:21617193 PMID:21964580

RGD:7327172 RGD:7327173 RGD:7327174

NCBI chr 9:81,725,115...82,029,361

G

arginyl aminopeptidase

protein:increased expression:adrenal gland, neurohypophysis

PMID:3001599 PMID:9660082

RGD:2325942 RGD:2325950

NCBI chr25:27,401,749...27,426,371
Ensembl chr25:27,401,757...27,426,410

G

ribosomal protein S6 kinase B1

CTD Direct Evidence: marker/mechanism

NCBI chr16:33,498,098...33,556,553
Ensembl chr16:33,497,392...33,556,453

G

S100 calcium binding protein B

protein:increased expression:serum

NCBI chr 2:90,188,820...90,194,986
Ensembl chr 2:90,188,639...90,195,023

G

sphingosine-1-phosphate receptor 1

disease_progression

associated with SHRSP;mRNA,protein:increased expression, decreased expression:kidney (rat)

NCBI chr20:32,109,436...32,117,015
Ensembl chr20:32,110,819...32,111,967

G

sodium channel epithelial 1 subunit alpha

CTD Direct Evidence: marker/mechanism

PMID:11752024 PMID:23348737

NCBI chr11:6,384,073...6,418,620
Ensembl chr11:6,383,956...6,416,337

G

sodium channel epithelial 1 subunit beta

CTD Direct Evidence: marker/mechanism

PMID:15174897 PMID:15198480 PMID:19344079

NCBI chr 5:21,021,181...21,107,746
Ensembl chr 5:21,022,133...21,107,824

G

sodium channel epithelial 1 subunit gamma

CTD Direct Evidence: marker/mechanism

NCBI chr 5:20,860,062...20,924,628
Ensembl chr 5:20,891,416...20,924,819

G

selectin P

CTD Direct Evidence: marker/mechanism

NCBI chr25:59,420,910...59,465,140
Ensembl chr25:59,433,333...59,462,598

G

serpin family A member 1

protein:increased expression:urine

NCBI chr24:72,158,521...72,171,139
Ensembl chr24:72,156,784...72,163,500

G

serpin family E member 1

treatment

mRNA:increased expression:kidney (SHRSP/A3N rat)
CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma (human)

PMID:8355419 PMID:11907153 PMID:16645728 PMID:21051829 PMID:22352330

RGD:11081003 RGD:28912746 RGD:8547753

NCBI chr28:12,047,520...12,060,662
Ensembl chr28:12,047,529...12,060,202

G

serpin family E member 2

mRNA, protein:increased expression:blood vessel

NCBI chr10:109,921,619...109,988,137
Ensembl chr10:109,921,598...109,987,513

G

serpin family F member 2

NCBI chr16:1,392,562...1,404,574
Ensembl chr16:1,392,571...1,404,636

G

serum/glucocorticoid regulated kinase 1

no_association
susceptibility

DNA:SNP:exon, intron:no association with SNPs in codon 240 in exon 8, codon 398 in exon 12 or intron 6
DNA:snps:exon, intron: (human)

PMID:15304560 PMID:16221215

RGD:1580968 RGD:1580969

NCBI chr13:39,152,289...39,306,190
Ensembl chr13:39,300,567...39,306,183

G

SH2B adaptor protein 3

NCBI chr11:106,657,601...106,703,940
Ensembl chr11:106,670,685...106,700,619

G

sirtuin 6

exacerbates

NCBI chr 6:3,924,230...3,932,583
Ensembl chr 6:3,924,230...3,932,590

G

solute carrier family 12 member 2

mRNA:increased expression:aorta
CTD Direct Evidence: marker/mechanism

PMID:15020309 PMID:17259435 PMID:21814290

RGD:1580582 RGD:9587757

NCBI chr23:31,028,514...31,132,263
Ensembl chr23:31,029,026...31,132,289

G

solute carrier family 12 member 3

CTD Direct Evidence: marker/mechanism

NCBI chr 5:42,808,773...42,877,714
Ensembl chr 5:42,811,597...42,862,002

G

solute carrier family 26 member 4

NCBI chr21:76,578,035...76,631,725
Ensembl chr21:76,578,665...76,633,165

G

solute carrier family 2 member 1

protein:increased expression:renal glomerulus

NCBI chr20:89,974,567...90,007,977
Ensembl chr20:90,002,030...90,008,033

G

solute carrier family 2 member 3

protein:decreased expression:hippocampus, parietal cortex; protein:increased expression:hypothalamus, thalamus

NCBI chr11:8,004,861...8,023,023

G

solute carrier family 4 member 4

protein:increased expression:kidney cortex

NCBI chr 7:19,581,399...20,043,334

G

solute carrier family 5 member 2

NCBI chr 5:28,183,141...28,191,352
Ensembl chr 5:28,183,618...28,191,120

G

solute carrier family 6 member 18

CTD Direct Evidence: marker/mechanism

NCBI chr 4:1,054,353...1,079,478
Ensembl chr 4:1,057,136...1,075,426

G

solute carrier family 6 member 19

mRNA:increased expression

NCBI chr 4:1,031,236...1,053,815
Ensembl chr 4:1,033,125...1,056,843

G

solute carrier family 6 member 2

DNA:polymorphism:1287G>A
CTD Direct Evidence: marker/mechanism

PMID:17124432 PMID:22533655

NCBI chr 5:41,434,004...41,482,568
Ensembl chr 5:41,435,387...41,483,643

G

solute carrier family 6 member 3

protein:increased expression:caudate-putamen

NCBI chr 4:1,209,013...1,258,797
Ensembl chr 4:1,209,019...1,258,866

G

solute carrier family 8 member A1

DNA:SNP: :1784C>T
DNA:snps:intron:g.-23200T>C, g.-23181T>C (human)

PMID:15785003 PMID:15824464 PMID:16343576

RGD:1580586 RGD:1580732 RGD:1598724

NCBI chr14:66,813,523...67,210,261

G

superoxide dismutase 1

treatment

associated with Hydronephrosis
human gene in a rat model
protein,mRNA:decreased_expression:mononuclear_cells:after treatment, activity increased but mRNA expression decreased further
mRNA:decreased expression:rostral ventrolateral medulla (rat)
CTD Direct Evidence: marker/mechanism|therapeutic

PMID:9024144 PMID:16716903 PMID:16864745 PMID:17198913 PMID:19403858 More...

RGD:1580833 RGD:1581232 RGD:1600704 RGD:2312366 RGD:329956417

NCBI chr 2:60,461,219...60,472,999

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

PMID:11834524 PMID:16716903 PMID:21593737 PMID:25101153

NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974

G

superoxide dismutase 3

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:12600899 PMID:16864745 PMID:17023265

RGD:1580845 RGD:1581232

NCBI chr27:25,554,474...25,559,873
Ensembl chr27:25,555,082...25,555,804

G

sequestosome 1

protein:decreased expression:brain

NCBI chr23:81,536,271...81,571,061
Ensembl chr23:81,558,082...81,574,830

G

SRC proto-oncogene, non-receptor tyrosine kinase

NCBI chr 2:26,344,480...26,367,448
Ensembl chr 2:26,343,450...26,367,776

G

serum response factor

NCBI chr17:28,983,161...28,993,465
Ensembl chr17:28,983,002...28,992,995

G

somatostatin

protein:altered expression:stomach

NCBI chr15:81,946,287...81,947,775
Ensembl chr15:81,946,206...81,947,790

G

stromal interaction molecule 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:62,651,472...62,865,992
Ensembl chr 1:62,651,290...62,865,986

G

serine/threonine kinase 11

CTD Direct Evidence: marker/mechanism

NCBI chr 6:973,033...996,857
Ensembl chr 6:974,144...995,136

G

serine/threonine kinase 39

CTD Direct Evidence: therapeutic

NCBI chr10:53,451,035...53,747,847
Ensembl chr10:53,450,891...53,682,993

G

steroid sulfatase

protein:increased expression:multiple organs

NCBI chr X:5,601,746...5,813,916
Ensembl chr X:5,709,410...5,812,224

G

tachykinin precursor 3

protein:increased expression:supraoptic nucleus, medulla oblongata

NCBI chr11:52,920,381...52,927,494

G

tachykinin receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:32,080,319...32,236,556
Ensembl chr14:32,083,615...32,233,596

G

tachykinin receptor 3

NCBI chr 7:51,662,248...51,764,058
Ensembl chr 7:51,665,147...51,762,390

G

thromboxane A synthase 1

associated with hyperinsulinism

PMID:9370383 PMID:16192456

RGD:1601439 RGD:1601472

NCBI chr21:108,584,458...108,779,357
Ensembl chr21:108,628,570...108,779,163

G

transferrin

protein:decreased expression

NCBI chr15:56,586,311...56,618,304
Ensembl chr15:56,586,104...56,618,149

G

transforming growth factor beta 1

protein:increased expression:renal glomerulus
protein:increased expression:blood serum (human)
mRNA:increased expression:kidney (SHRSP/A3N rat)
protein:increased expression:vascular associated smooth muscle cell
CTD Direct Evidence: marker/mechanism

PMID:11682445 PMID:11907153 PMID:12771048 PMID:17364610 PMID:19018797 More...

RGD:12879474 RGD:1601552 RGD:28912746 RGD:30296650 RGD:329955577

NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365

G

transforming growth factor beta 3

no_association

DNA:polymorphism, SNPs

NCBI chr24:53,203,593...53,227,483
Ensembl chr24:53,203,301...53,227,325

G

transglutaminase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:25,585,827...25,623,961
Ensembl chr 2:25,585,865...25,624,280

G

tyrosine hydroxylase

susceptibility

DNA:polymorphism:intron:g.1090T>C rs2070762 (human)
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:brain

PMID:16636198 PMID:16650497 PMID:27659729 PMID:32147540 PMID:32165127

RGD:1601630 RGD:1601631

NCBI chr 1:1,969,194...1,977,263
Ensembl chr 1:1,966,460...1,977,218

G

thrombomodulin

treatment

associated with Experimental Diabetes Mellitus
protein:increased expression:plasma
protein:decreased expression:plasma

PMID:12611420 PMID:14737039 PMID:16095049 PMID:17401180

RGD:1601636 RGD:1601646 RGD:1601652 RGD:5685017

NCBI chr 2:52,041,950...52,045,946
Ensembl chr 2:52,043,746...52,045,626

G

TIMP metallopeptidase inhibitor 1

CTD Direct Evidence: marker/mechanism
protein:decreased expression:glomerulus

PMID:19506087 PMID:21051829

G

tight junction protein 2

protein:decreased expression:brain

NCBI chr12:80,224,497...80,358,495
Ensembl chr12:80,307,380...80,358,584

G

toll like receptor 3

CTD Direct Evidence: therapeutic

NCBI chr 7:131,991,068...132,014,366
Ensembl chr 7:131,991,029...132,016,232

G

toll like receptor 4

CTD Direct Evidence: marker/mechanism

PMID:27292124 PMID:32147540

NCBI chr12:21,873,762...21,885,562
Ensembl chr12:21,871,773...21,885,515

G

tumor necrosis factor

treatment
ameliorates

associated with Cardiac Fibrosis
CTD Direct Evidence: marker/mechanism

PMID:9590569 PMID:16202847 PMID:16415373 PMID:18605955 PMID:25715999 More...

RGD:1357163 RGD:1580207 RGD:1580312 RGD:401794570

G

TNF receptor superfamily member 11b

severity

protein:increased expression:serum

NCBI chr 8:113,520,711...113,549,370
Ensembl chr 8:113,520,596...113,548,936

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223

G

tryptophan hydroxylase 2

NCBI chr11:67,568,744...67,664,911

G

tropomyosin 1

CTD Direct Evidence: marker/mechanism

NCBI chr26:20,458,287...20,487,387
Ensembl chr26:20,466,037...20,487,135

G

thyrotropin releasing hormone

protein:decreased expression:diencephalon
CTD Direct Evidence: marker/mechanism

PMID:6350720 PMID:17227965

NCBI chr22:51,075,814...51,079,852
Ensembl chr22:51,076,157...51,078,236

G

thyrotropin releasing hormone receptor

PMID:7554113 PMID:11566956

RGD:1580744 RGD:1580745

NCBI chr 8:103,798,423...103,835,284
Ensembl chr 8:103,800,175...103,831,628

G

transient receptor potential cation channel subfamily C member 3

CTD Direct Evidence: marker/mechanism

NCBI chr 7:69,160,569...69,233,322
Ensembl chr 7:69,158,867...69,231,858

G

transient receptor potential cation channel subfamily C member 5

CTD Direct Evidence: marker/mechanism

NCBI chr X:99,546,923...99,856,971
Ensembl chr X:99,550,595...99,736,668

G

urocortin

associated with Pregnancy Complications;protein:increased expression:plasma
CTD Direct Evidence: therapeutic

PMID:16915033 PMID:20237592

NCBI chr14:80,303,210...80,304,910
Ensembl chr14:80,304,416...80,304,790

G

urocortin 2

human protein in rat model

NCBI chr22:9,962,339...9,964,553

G

uncoupling protein 1

DNA:polymorphism: :-3826A>G (human)

NCBI chr 7:87,492,444...87,502,894
Ensembl chr 7:87,492,195...87,502,665

G

uncoupling protein 2

treatment

CTD Direct Evidence: marker/mechanism

PMID:15106800 PMID:16685210 PMID:20404217

RGD:1580794 RGD:7175297

NCBI chr 1:65,238,311...65,246,841
Ensembl chr 1:65,235,775...65,246,450

G

uncoupling protein 3

NCBI chr 1:65,269,611...65,279,079
Ensembl chr 1:65,269,607...65,278,807

G

UDP-glucose ceramide glucosyltransferase

treatment

NCBI chr12:27,575,519...27,614,114
Ensembl chr12:27,574,970...27,613,811

G

uromodulin

CTD Direct Evidence: marker/mechanism

NCBI chr 5:18,620,927...18,641,312
Ensembl chr 5:18,619,895...18,638,719

G

urotensin 2

CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma

PMID:14621188 PMID:15201550 PMID:16160878

RGD:1580808 RGD:1580812

NCBI chr20:123,903,137...123,910,180

G

urotensin 2 receptor

NCBI chr16:74,284,472...74,291,074
Ensembl chr16:74,288,333...74,289,502

G

vav guanine nucleotide exchange factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr20:25,631,104...26,023,854
Ensembl chr20:25,631,171...26,023,849

G

vascular cell adhesion molecule 1

disease_progression

CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Type1; protein:increased expression:serum:
associated with SHRSP;mRNA,protein:increased expression:kidney, membrane fraction (rat)
mRNA:increased expression:multiple organs

PMID:11834524 PMID:17938382 PMID:19018797 PMID:19080338 PMID:20569722

RGD:1643008 RGD:2313107 RGD:7241235

NCBI chr20:32,616,425...32,635,903
Ensembl chr20:32,615,333...32,635,862

G

vitamin D receptor

CTD Direct Evidence: marker/mechanism

NCBI chr11:44,062,198...44,126,295
Ensembl chr11:44,065,457...44,166,684

G

vascular endothelial growth factor A

treatment

associated with Prostatic Neoplasms

PMID:16164572 PMID:20630084

RGD:1580573 RGD:8552374

NCBI chr17:28,377,959...28,394,508

G

von Hippel-Lindau tumor suppressor

NCBI chr22:46,184,621...46,203,065
Ensembl chr22:46,184,756...46,204,428

G

von Willebrand factor

treatment

CTD Direct Evidence: marker/mechanism
associated with Experimental Diabetes Mellitus

PMID:12149661 PMID:12425201 PMID:14737039 PMID:22352330

NCBI chr11:5,994,499...6,176,949
Ensembl chr11:5,994,039...6,162,260

G

WNK lysine deficient protein kinase 1

CTD Direct Evidence: marker/mechanism

PMID:16301342 PMID:22949526

NCBI chr11:736,668...893,404
Ensembl chr11:737,590...890,762

G

WNK lysine deficient protein kinase 4

no_association

CTD Direct Evidence: marker/mechanism

PMID:12642508 PMID:15110905 PMID:22949526

RGD:1580830 RGD:629611

NCBI chr16:63,494,090...63,512,068

G

xanthine dehydrogenase

treatment

DNA:SNPs:exon, intron:47686C>T, 69901A>C, 67873A>C (p.N1109T) (human)

PMID:12826072 PMID:18712049 PMID:18728266 PMID:23746952

RGD:13210518 RGD:7247630 RGD:7247653 RGD:7247654

NCBI chr14:76,084,693...76,162,840
Ensembl chr14:76,085,368...76,163,936

G

X-ray repair cross complementing 1

susceptibility

DNA:SNP,haplotypes: p.R194W, p.R399Q (rs1799782, rs25487) (human)

NCBI chr 6:37,062,149...37,095,138
Ensembl chr 6:37,060,439...37,095,094

G

X-ray repair cross complementing 3

susceptibility

DNA:SNP,haplotype:cd: p.T241M (rs861539) (human)

NCBI chr24:81,627,911...81,641,598
Ensembl chr24:81,630,099...81,641,218

G

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta

treatment

NCBI chr 8:95,786,197...95,821,270
Ensembl chr 8:95,788,305...95,819,197

benign hypertensive renal disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mitogen-activated protein kinase kinase kinase 7

protein:increased expression:cortex of kidney (human)

NCBI chr13:15,284,927...15,360,539
Ensembl chr13:15,284,923...15,360,832

Diastolic Hypertension, Resistance to

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

potassium voltage-gated channel interacting protein 1

ClinVar Annotator: match by term: KCNMB1-related condition

PMID:15057310 PMID:16155733

NCBI chr23:72,555,329...72,934,425
Ensembl chr23:72,910,263...72,934,422

G

potassium calcium-activated channel subfamily M regulatory beta subunit 1

ClinVar Annotator: match by term: KCNMB1-related condition

PMID:15057310 PMID:16155733

NCBI chr23:72,580,617...72,591,070
Ensembl chr23:72,577,813...72,591,588

Dursun Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glucose-6-phosphatase catalytic subunit 3

ClinVar Annotator: match by term: Dursun syndrome

PMID:22050868 PMID:25492228 PMID:25741868 PMID:27577878 PMID:28492532 More...

NCBI chr16:62,315,324...62,321,522
Ensembl chr16:62,315,624...62,321,512

eclampsia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 6

treatment

NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237

essential hypertension

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acyl-CoA synthetase medium chain family member 3

no_association

NCBI chr 5:18,876,390...18,929,914
Ensembl chr 5:18,904,110...18,929,729

G

adducin 1

ClinVar Annotator: match by term: Hypertension, salt-sensitive essential, susceptibility to

PMID:9149697 PMID:9607177 PMID:10024330 PMID:10523341 PMID:11882573 More...

NCBI chr27:45,811,611...45,901,277
Ensembl chr27:45,813,496...45,900,778

G

angiotensinogen

ClinVar Annotator: match by term: AGT-related condition | ClinVar Annotator: match by term: Essential hypertension, genetic | ClinVar Annotator: match by term: Hypertension, essential, susceptibility to

PMID:1394429 PMID:7649545 PMID:7883995 PMID:8348146 PMID:8513325 More...

NCBI chr25:67,964,840...67,977,006
Ensembl chr25:67,962,401...67,973,324

G

angiotensin II receptor type 1

treatment

ClinVar Annotator: match by term: Essential hypertension | ClinVar Annotator: match by term: Essential hypertension, genetic | ClinVar Annotator: match by term: Hypertension, essential, susceptibility to

OMIM
ClinVar
RGD

PMID:8021009 PMID:9084931 PMID:15042429 PMID:16116425 PMID:17668390 More...

NCBI chr15:41,957,826...42,002,776

G

allograft inflammatory factor 1

CTD Direct Evidence: marker/mechanism

G

ATPase Na+/K+ transporting subunit beta 1

NCBI chr25:59,898,745...59,925,166
Ensembl chr25:59,895,341...59,925,522

G

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2

susceptibility

DNA:polymorphism:exon:p.A724A (c.2171G>A)(human)

NCBI chr11:105,522,175...105,590,291
Ensembl chr11:105,522,157...105,590,958

G

ATP synthase peripheral stalk subunit F6

protein:increased expression:plasma (human)

NCBI chr 2:66,539,014...66,550,186
Ensembl chr 2:66,538,864...66,550,046

G

calcyon neuron specific vesicular protein

CTD Direct Evidence: marker/mechanism

NCBI chr26:53,170,933...53,182,147
Ensembl chr26:53,170,193...53,182,136

G

catalase

NCBI chr 1:30,792,533...30,828,920
Ensembl chr 1:30,792,399...30,829,592

G

cell division cycle associated 3

ClinVar Annotator: match by term: Hypertension, essential, susceptibility to

PMID:9425898 PMID:10477144 PMID:10523525 PMID:10770297 PMID:10770309 More...

NCBI chr11:6,882,125...6,885,311
Ensembl chr11:6,881,504...6,885,118

G

cytochrome b-245 beta chain

CTD Direct Evidence: marker/mechanism

G

cytochrome P450 family 3 subfamily A member 5

susceptibility

ClinVar Annotator: match by term: CYP3A5-related condition | ClinVar Annotator: match by term: Hypertension, salt-sensitive essential, susceptibility to

PMID:11279519 PMID:11740341 PMID:12065767 PMID:12754175 PMID:15492926

NCBI chr28:13,473,649...13,517,905
Ensembl chr28:13,491,483...13,519,507

G

endothelin converting enzyme 1

susceptibility

ClinVar Annotator: match by term: ECE1-related condition

PMID:25741868 PMID:28492532

NCBI chr20:111,212,567...111,342,755
Ensembl chr20:111,212,594...111,342,821

G

elastin

OMIM:145500 | OMIM:603918 | OMIM:604329 | OMIM:607329 | OMIM:608742 | OMIM:610261 | OMIM:610262 | OMIM:610948 | OMIM:611014

NCBI chr28:8,999,164...9,048,703

G

free fatty acid receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:30,375,607...30,379,479
Ensembl chr 6:30,377,427...30,378,419

G

free fatty acid receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 6:30,296,020...30,306,671

G

fibroblast growth factor receptor 2

sexual_dimorphism

mRNA, protein:decreased expression:inferior vagus X ganglion, nucleus of solitary tract (rat)

NCBI chr 9:114,234,344...114,354,736
Ensembl chr 9:114,234,250...114,354,704

G

FTO alpha-ketoglutarate dependent dioxygenase

DNA:SNP: :rs8050136 (human)

NCBI chr 5:39,487,304...39,900,238
Ensembl chr 5:39,487,418...39,725,747

G

GATA binding protein 5

OMIM:145500 | OMIM:603918 | OMIM:604329 | OMIM:607329 | OMIM:608742 | OMIM:610261 | OMIM:610262 | OMIM:610948 | OMIM:611014

NCBI chr 2:1,756,911...1,769,452
Ensembl chr 2:1,757,420...1,768,143

G

G protein subunit beta 3

susceptibility

ClinVar Annotator: match by term: GNB3-related condition | ClinVar Annotator: match by term: Hypertension, essential, susceptibility to

PMID:9425898 PMID:10477144 PMID:10523525 PMID:10770297 PMID:10770309 More...

NCBI chr11:6,873,043...6,880,676
Ensembl chr11:6,874,351...6,880,179

G

G protein-coupled receptor kinase 4

susceptibility

DNA:SNP,haplotypes:cds:

NCBI chr27:45,691,936...45,765,334

G

hepatitis A virus cellular receptor 1

protein:increased expression:urine:

NCBI chr23:59,422,769...59,454,183
Ensembl chr23:59,423,334...59,453,531

G

high mobility group box 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:9,353,333...9,357,765

G

hydroxysteroid 11-beta dehydrogenase 1

susceptibility

DNA:SNP:insertion: ins4436A (rs45487298) (human)

NCBI chr25:19,720,096...19,772,806
Ensembl chr25:19,719,848...19,750,200

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729

G

lipocalin 2

protein:increased expression:urine:

NCBI chr12:9,976,278...9,981,087
Ensembl chr12:9,976,614...9,980,870

G

cytochrome b-245 light chain

CTD Direct Evidence: marker/mechanism

NCBI chr 5:74,023,134...74,030,793
Ensembl chr 5:74,023,082...74,030,750

G

neutrophil cytosolic factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr28:8,334,172...8,349,828
Ensembl chr28:8,332,772...8,349,804

G

nitric oxide synthase 3

ClinVar Annotator: match by term: Essential hypertension

NCBI chr21:119,174,829...119,196,840

G

natriuretic peptide B

protein:increased expression:plasma:

NCBI chr20:119,930,931...119,933,391
Ensembl chr20:119,932,021...119,933,197

G

natriuretic peptide receptor 2

DNA:repeat:intron:IVS2+150(GT)10-11 (human)

NCBI chr12:44,795,822...44,844,464
Ensembl chr12:44,793,253...44,813,671

G

occludin

CTD Direct Evidence: marker/mechanism

NCBI chr 4:65,581,943...65,641,516
Ensembl chr 4:65,582,460...65,644,787

G

phosphatase and actin regulator 1

susceptibility

DNA:SNP::g.12903725A>G (rs9349379) (human)

NCBI chr17:58,859,456...59,440,969
Ensembl chr17:58,862,828...59,133,298

G

prostaglandin I2 synthase

ClinVar Annotator: match by term: Essential hypertension | ClinVar Annotator: match by term: Essential hypertension, genetic

PMID:12372404 PMID:25741868

NCBI chr 2:14,420,318...14,484,667
Ensembl chr 2:14,441,983...14,488,264

G

protein tyrosine phosphatase non-receptor type 1

susceptibility

DNA:SNPs::g.54281T>A, 15/37C>A (human)

NCBI chr 2:13,385,681...13,459,180
Ensembl chr 2:13,387,727...13,459,105

G

retinoic acid receptor responder 2

protein:increased expression:serum:

NCBI chr21:118,487,199...118,490,561
Ensembl chr21:118,487,506...118,489,516

G

retinol binding protein 4

disease_progression

protein:increased expression:blood plasma (human)
protein:increased expression:blood serum (human)

PMID:19556974 PMID:31865725

RGD:329845583 RGD:329845861

NCBI chr 9:86,831,042...86,840,668
Ensembl chr 9:86,830,957...86,840,250

G

renin

NCBI chr25:25,159,816...25,193,620
Ensembl chr25:25,183,037...25,193,420

G

regulator of G protein signaling 5

NCBI chr25:65,608,384...65,667,811
Ensembl chr25:65,608,303...65,662,772

G

renalase, FAD dependent amine oxidase

DNA:SNPs: :rs2576178, rs2296545,rs2114406 (human)

NCBI chr 9:81,725,115...82,029,361

G

solute carrier family 12 member 3

severity

DNA:snp:intron:g.1784C>T (human)
DNA:missense mutation:cds:p.R904Q (human)

PMID:15480096 PMID:15824464

RGD:1580586 RGD:1580589

NCBI chr 5:42,808,773...42,877,714
Ensembl chr 5:42,811,597...42,862,002

G

tyrosine hydroxylase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:1,969,194...1,977,263
Ensembl chr 1:1,966,460...1,977,218

G

tight junction protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr26:52,623,751...52,750,037
Ensembl chr26:52,622,743...52,749,950

G

toll like receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:100,239,533...100,565,955
Ensembl chr 7:100,258,441...100,260,795

G

toll like receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr12:21,873,762...21,885,562
Ensembl chr12:21,871,773...21,885,515

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

G

uromodulin

ClinVar Annotator: match by term: Essential hypertension

NCBI chr 5:18,620,927...18,641,312
Ensembl chr 5:18,619,895...18,638,719

G

zinc finger and SCAN domain containing 25

ClinVar Annotator: match by term: CYP3A5-related condition | ClinVar Annotator: match by term: Hypertension, salt-sensitive essential, susceptibility to

PMID:11279519 PMID:11740341 PMID:12065767 PMID:12754175 PMID:15492926

NCBI chr28:13,539,095...13,551,772
Ensembl chr28:13,538,395...13,550,889

Grange Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

death associated protein 3

ClinVar Annotator: match by term: Grange syndrome | ClinVar Annotator: match by term: YY1AP1-related condition

PMID:25741868 PMID:28492532

NCBI chr20:8,122,440...8,174,665
Ensembl chr20:8,128,014...8,173,852

G

YY1 associated protein 1

ClinVar Annotator: match by term: GRANGE OCCLUSIVE ARTERIAL SYNDROME | ClinVar Annotator: match by term: Grange syndrome | ClinVar Annotator: match by term: YY1AP1-related condition

PMID:11241488 PMID:25741868 PMID:27939641 PMID:28492532 PMID:30556293

HELLP syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase with thrombospondin type 1 motif 13

protein:decreased activity:plasma (human)

NCBI chr12:4,677,237...4,718,825
Ensembl chr12:4,677,229...4,714,386

G

alpha hemoglobin stabilizing protein

mRNA:decreased expression:placenta (human)

NCBI chr 5:28,226,778...28,227,743
Ensembl chr 5:28,226,598...28,227,780

G

CD40 ligand

protein:increased expression:blood platelet (human)

NCBI chr X:111,655,301...111,667,602
Ensembl chr X:111,655,397...111,666,639

G

erb-b2 receptor tyrosine kinase 2

NCBI chr16:66,435,488...66,464,993
Ensembl chr16:66,434,251...66,464,952

G

Fas ligand

susceptibility

protein:altered expression:blood, placenta, liver:
DNA:SNP:intron:124A>G(rs5030772)(human)

PMID:28501275 PMID:30066360

RGD:14700669 RGD:14700673

NCBI chr25:56,488,572...56,496,469
Ensembl chr25:56,489,417...56,496,251

HUPRA Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

seryl-tRNA synthetase 1

ClinVar Annotator: match by term: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME

PMID:25741868 PMID:28492532

G

seryl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: HUPRA SYNDROME | 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 | ClinVar Annotator: match by term: SARS2-related condition

PMID:9536098 PMID:17576681 PMID:21255763 PMID:24034276 PMID:25741868 More...

NCBI chr 6:33,536,160...33,552,160
Ensembl chr 6:33,536,498...33,552,000

hypertension and brachydactyly syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphodiesterase 3A

ClinVar Annotator: match by term: Bilginturan syndrome | ClinVar Annotator: match by term: Brachydactyly type E with short stature and hypertension | ClinVar Annotator: match by term: PDE3A-related condition

PMID:4774535 PMID:25741868 PMID:25961942 PMID:28492532 PMID:29758562 More...

NCBI chr11:20,235,814...20,545,740
Ensembl chr11:20,236,430...20,540,900

Hypertension Resistant to Conventional Therapy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glutathione S-transferase Mu 1

susceptibility

DNA:deletion:cds: (human)

NCBI chr20:23,854,969...23,861,634

G

nitric oxide synthase 3

ClinVar Annotator: match by term: Hypertension resistant to conventional therapy

PMID:9737779 PMID:9894802 PMID:10475066 PMID:10510054 PMID:10514107 More...

NCBI chr21:119,174,829...119,196,840

G

protein tyrosine phosphatase receptor type D

susceptibility

associated with coronary artery disease;DNA:SNP:intron: (rs324498) (human)

NCBI chr12:70,160,253...71,237,292
Ensembl chr12:70,693,214...71,239,437

Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nuclear receptor subfamily 3 group C member 2

ClinVar Annotator: match by term: Hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy | ClinVar Annotator: match by term: NR3C2-related condition

PMID:9662404 PMID:10884226 PMID:15126534 PMID:16611713 PMID:16757525 More...

NCBI chr 7:94,574,010...94,935,348

Hypertensive Nephropathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensinogen

treatment

NCBI chr25:67,964,840...67,977,006
Ensembl chr25:67,962,401...67,973,324

G

angiotensin II receptor type 1

treatment

NCBI chr15:41,957,826...42,002,776

G

cofilin 1

protein:increased phosphorylation:kidney (rat)

NCBI chr 1:8,408,560...8,410,564

G

collagen type I alpha 1 chain

mRNA:increased expression:juxtamedullary cortex (rat)

NCBI chr16:43,134,648...43,152,313
Ensembl chr16:43,134,779...43,150,930

G

peroxisome proliferator-activated receptor alpha

Strain: SHRSP

NCBI chr19:28,614,892...28,709,272
Ensembl chr19:28,615,413...28,708,763

G

matrix metallopeptidase 2

ameliorates

NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004

G

natriuretic peptide B

NCBI chr20:119,930,931...119,933,391
Ensembl chr20:119,932,021...119,933,197

G

periostin

disease_progression

mRNA,protein:increased expression:kidney:

NCBI chr 3:16,060,013...16,095,867
Ensembl chr 3:16,059,965...16,095,791

G

recombination activating 1

ameliorates

NCBI chr 1:28,667,996...28,701,002

G

SHC adaptor protein 1

NCBI chr20:8,854,189...8,866,406
Ensembl chr20:8,858,458...8,866,610

G

sirtuin 6

protein:decreased expression:kidney

NCBI chr 6:3,924,230...3,932,583
Ensembl chr 6:3,924,230...3,932,590

Hypertensive Nephrosclerosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin converting enzyme 2

severity

mRNA, protein:decreased expression, increased expression:nephron tubule, kidney interstitium (human)

NCBI chr X:14,032,231...14,094,163
Ensembl chr X:14,030,233...14,077,785

hypertensive retinopathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-reactive protein

protein:increased expression:blood:

NCBI chr20:4,232,262...4,235,826
Ensembl chr20:4,232,913...4,235,377

G

SRY-box transcription factor 17

treatment

NCBI chr 8:50,523,816...50,527,360
Ensembl chr 8:50,524,893...50,527,847

Isolated Systolic Hypertension

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

apolipoprotein B

ClinVar Annotator: match by term: Isolated systolic hypertension

PMID:25741868 PMID:28492532

NCBI chr14:86,624,209...86,669,175
Ensembl chr14:86,624,332...86,668,704

G

BSCL2 lipid droplet biogenesis associated, seipin

ClinVar Annotator: match by term: Isolated systolic hypertension

PMID:25741868 PMID:28492532

NCBI chr 1:11,198,033...11,216,709
Ensembl chr 1:11,200,356...11,216,622

malignant hypertension

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adrenomedullin

protein:increased expression:plasma

NCBI chr 1:54,518,359...54,520,683
Ensembl chr 1:54,518,358...54,520,686

G

angiotensinogen

CTD Direct Evidence: marker/mechanism

PMID:2493837 PMID:27428043

NCBI chr25:67,964,840...67,977,006
Ensembl chr25:67,962,401...67,973,324

G

cytochrome P450 family 17 subfamily A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:95,870,098...95,877,345
Ensembl chr 9:95,866,908...95,877,180

G

renin

CTD Direct Evidence: marker/mechanism

NCBI chr25:25,159,816...25,193,620
Ensembl chr25:25,183,037...25,193,420

Masked Hypertension

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adiponectin, C1Q and collagen domain containing

protein:decreased expression:plasma

NCBI chr15:81,128,427...81,142,779
Ensembl chr15:81,129,795...81,147,391

mild pre-eclampsia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glutathione peroxidase 3

protein:increased expression:plasma

NCBI chr23:53,576,950...53,585,321

Neonatal Pulmonary Hypertension

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

carbamoyl-phosphate synthase 1

ClinVar Annotator: match by term: Pulmonary hypertension, neonatal, susceptibility to

PMID:8486760 PMID:9536098 PMID:9686343 PMID:9711878 PMID:11388595 More...

NCBI chr10:96,267,890...96,392,393
Ensembl chr10:96,267,889...96,392,206

nephrosclerosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin alpha 2, smooth muscle

CTD Direct Evidence: marker/mechanism

NCBI chr 9:82,358,937...82,376,289
Ensembl chr 9:82,359,086...82,372,446

G

adrenoceptor beta 1

disease_progression

associated with hypertension;DNA:missense mutations, haplotype:cds:p.S49G(rs1801252),p.R389G (rs1801253)(human):

NCBI chr 9:106,920,520...106,923,424
Ensembl chr 9:106,920,610...106,922,058

G

arachidonate 5-lipoxygenase

CTD Direct Evidence: marker/mechanism

NCBI chr 9:41,085,257...41,145,760
Ensembl chr 9:41,085,361...41,145,331

G

alpha kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:60,096,755...60,233,569
Ensembl chr 7:60,202,204...60,236,743

G

collagen type I alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr16:43,134,648...43,152,313
Ensembl chr16:43,134,779...43,150,930

G

collagen type III alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr10:74,455,133...74,493,392

G

C-X-C motif chemokine ligand 12

CTD Direct Evidence: marker/mechanism

NCBI chr 9:40,005,580...40,020,513
Ensembl chr 9:40,011,439...40,020,494

G

C-X-C motif chemokine receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr10:20,336,470...20,340,308
Ensembl chr10:20,336,247...20,340,309

G

fibroblast growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:70,089,394...70,157,423

G

homeodomain interacting protein kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr21:108,310,782...108,533,274
Ensembl chr21:108,322,096...108,533,226

G

leukotriene B4 receptor

CTD Direct Evidence: marker/mechanism

NCBI chr24:1,294,453...1,301,113
Ensembl chr24:1,298,729...1,299,790

G

methylenetetrahydrofolate reductase

DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human)

NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950

G

prostaglandin D2 synthase

associated with Hypertension;protein:increased expression:serum, urine

NCBI chr12:1,210,567...1,214,631
Ensembl chr12:1,211,487...1,214,531

G

S100 calcium binding protein A4

CTD Direct Evidence: marker/mechanism

NCBI chr20:10,258,142...10,260,390
Ensembl chr20:10,258,070...10,260,871

G

transforming growth factor beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365

persistent fetal circulation syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenosine deaminase domain containing 2

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 5:69,599,376...69,605,956
Ensembl chr 5:69,600,012...69,605,762

G

ATPase secretory pathway Ca2+ transporting 2

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 5:69,771,909...69,861,030
Ensembl chr 5:69,801,818...69,860,576

G

CBY1 interacting BAR domain containing 2

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 5:70,511,431...70,525,861
Ensembl chr 5:70,511,534...70,525,197

G

coactosin like F-actin binding protein 1

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 5:69,966,655...70,019,338
Ensembl chr 5:69,967,900...70,019,307

G

carbamoyl-phosphate synthase 1

CTD Direct Evidence: marker/mechanism
CACD, OMIM:265380, DNA:polymorphism:T1405N

NCBI chr10:96,267,890...96,392,393
Ensembl chr10:96,267,889...96,392,206

G

cysteine rich secretory protein LCCL domain containing 2

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 5:70,225,791...70,314,763
Ensembl chr 5:70,225,883...70,314,974

G

chromosome unknown C16orf74 homolog

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 5:71,114,015...71,158,207

G

chromosome unknown C16orf95 homolog

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 5:72,508,773...72,685,057

G

dynein axonemal assembly factor 1

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 5:69,554,454...69,586,476
Ensembl chr 5:69,554,578...69,586,365

G

ER membrane protein complex subunit 8

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 5:71,185,407...71,207,478
Ensembl chr 5:71,186,424...71,207,238

G

F-box protein 31

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 5:72,696,868...72,752,480
Ensembl chr 5:72,701,136...72,752,989

G

forkhead box C2

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 5:71,951,980...71,955,021
Ensembl chr 5:71,952,632...71,954,134

G

forkhead box F1

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

PMID:15520767 PMID:19500772 PMID:23505205 PMID:24033266 PMID:25741868 More...

NCBI chr 5:71,898,473...71,902,624
Ensembl chr 5:71,898,786...71,903,661

G

forkhead box L1

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 5:71,960,154...71,968,629
Ensembl chr 5:71,963,965...71,965,002

G

GINS complex subunit 2

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 5:71,088,766...71,099,845
Ensembl chr 5:71,089,564...71,099,688

G

Gse1 coiled-coil protein

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 5:70,585,176...71,087,575
Ensembl chr 5:70,966,855...71,083,912

G

hydroxysteroid dehydrogenase like 1

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 5:69,532,858...69,554,332
Ensembl chr 5:69,532,223...69,554,299

G

interferon regulatory factor 8

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 5:71,301,878...71,325,622
Ensembl chr 5:71,302,233...71,325,613

G

integrin subunit alpha M

DNA:missense mutation:CDS:p.E1071D (human)

NCBI chr 5:27,957,162...28,042,697
Ensembl chr 5:27,957,324...28,042,691

G

junctophilin 3

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 5:72,972,373...73,095,710
Ensembl chr 5:72,972,361...73,094,231

G

potassium voltage-gated channel modifier subfamily G member 4

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 5:69,627,775...69,646,566
Ensembl chr 5:69,628,861...69,644,163

G

KIAA0513 ortholog

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 5:70,438,139...70,502,918
Ensembl chr 5:70,438,150...70,499,848

G

kelch like family member 36

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 5:70,050,442...70,064,859
Ensembl chr 5:70,050,757...70,064,682

G

cytochrome c oxidase subunit 4 isoform 1, mitochondrial

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 5:71,207,509...71,214,976
Ensembl chr 5:71,206,941...71,215,034

G

microtubule associated protein 1 light chain 3 beta

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 5:72,762,428...72,774,204
Ensembl chr 5:72,763,050...72,772,770

G

membrane bound transcription factor peptidase, site 1

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 5:69,464,064...69,527,588
Ensembl chr 5:69,463,920...69,527,541

G

MTOR associated protein, eak-7 homolog

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 5:69,873,518...69,903,097

G

malonyl-CoA decarboxylase

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 5:69,312,978...69,329,346
Ensembl chr 5:69,313,062...69,329,102

G

methenyltetrahydrofolate synthetase domain containing

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 5:71,915,431...71,941,989
Ensembl chr 5:71,917,268...71,938,962

G

N-terminal EF-hand calcium binding protein 2

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 5:69,380,328...69,413,985

G

nitric oxide synthase 3

OMIM:265380

NCBI chr21:119,174,829...119,196,840

G

oxidative stress induced growth inhibitor 1

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 5:69,365,072...69,378,319
Ensembl chr 5:69,365,096...69,378,319

G

phosphatase and tensin homolog

OMIM:265380

NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146

G

solute carrier family 38 member 8

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 5:69,421,171...69,455,073

G

signaling receptor and transporter of retinol STRA6

CTD Direct Evidence: marker/mechanism

NCBI chr26:9,275,317...9,311,302
Ensembl chr26:9,278,303...9,311,475

G

TATA-box binding protein associated factor, RNA polymerase I subunit C

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 5:69,587,592...69,596,312
Ensembl chr 5:69,587,769...69,593,814

G

ubiquitin specific peptidase 10

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 5:70,105,653...70,186,512
Ensembl chr 5:70,139,470...70,185,884

G

WAP four-disulfide core domain 1

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 5:69,700,984...69,734,682
Ensembl chr 5:69,701,470...69,731,823

G

zinc finger CCHC-type containing 14

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 5:72,776,249...72,863,957
Ensembl chr 5:72,780,300...72,863,860

G

zDHHC palmitoyltransferase 7

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 5:70,379,228...70,419,885
Ensembl chr 5:70,379,179...70,401,139

pre-eclampsia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activin A receptor type 2B

protein:increased expression:placenta (human)

NCBI chr15:923,222...962,438

G

adducin 1

mRNA:increased expression:blood

NCBI chr27:45,811,611...45,901,277
Ensembl chr27:45,813,496...45,900,778

G

angiotensinogen

CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :p.M235T (human)

PMID:8513325 PMID:20530295

RGD:1300394 RGD:13432363

NCBI chr25:67,964,840...67,977,006
Ensembl chr25:67,962,401...67,973,324

G

albumin

severity

NCBI chr 7:21,872,036...21,890,095
Ensembl chr 7:21,876,132...21,891,407

G

alkB homolog 5, RNA demethylase

CTD Direct Evidence: marker/mechanism

NCBI chr16:17,221,643...17,249,038
Ensembl chr16:17,222,378...17,249,117

G

annexin A5

CTD Direct Evidence: therapeutic

NCBI chr 7:68,940,365...68,970,324
Ensembl chr 7:68,940,304...68,970,811

G

apelin receptor early endogenous ligand

OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592

G

Rho GTPase activating protein 45

CTD Direct Evidence: marker/mechanism

NCBI chr 6:823,109...842,697
Ensembl chr 6:823,154...846,070

G

AT-rich interaction domain 1A

disease_progression

associated with Fetal Growth Retardation; protein:increased expression:placenta, nucleus (human)

NCBI chr20:105,981,549...106,066,093
Ensembl chr20:105,981,290...106,065,672

G

ankyrin repeat and SOCS box containing 4

OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592

NCBI chr21:53,497,078...53,551,149
Ensembl chr21:53,496,860...53,550,837

G

ATPase plasma membrane Ca2+ transporting 1

mRNA:decreased expression:placenta (human)

NCBI chr11:84,985,957...85,053,923
Ensembl chr11:84,989,169...85,103,957

G

ATPase plasma membrane Ca2+ transporting 2

mRNA:decreased expression:placenta (human)

NCBI chr22:46,360,306...46,742,446
Ensembl chr22:46,368,243...46,662,220

G

ATPase plasma membrane Ca2+ transporting 3

mRNA:decreased expression:placenta (human)

NCBI chr X:127,966,366...128,013,900
Ensembl chr X:127,966,492...128,013,901

G

ATPase plasma membrane Ca2+ transporting 4

mRNA:decreased expression:placenta (human)

NCBI chr25:25,602,857...25,716,385
Ensembl chr25:25,602,715...25,661,553

G

complement C3

treatment

NCBI chr 6:6,250,422...6,289,264

G

calbindin 1

mRNA:decreased expression:placenta (human)

NCBI chr 8:85,135,956...85,160,806
Ensembl chr 8:85,137,528...85,160,855

G

C-C motif chemokine ligand 5

protein:increased secretion:serum (rat)

NCBI chr16:29,351,214...29,361,317

G

cellular communication network factor 3

protein:decreased expression:placenta (human)

NCBI chr 8:113,989,862...113,998,187
Ensembl chr 8:113,990,152...113,998,261

G

CD274 molecule

treatment

NCBI chr12:74,038,844...74,060,662
Ensembl chr12:74,041,767...74,056,806

G

CD40 molecule

protein:increased expression:blood, monocyte (human)

NCBI chr 2:17,753,713...17,765,134
Ensembl chr 2:17,753,394...17,764,566

G

CD40 ligand

treatment

protein:increased expression:blood platelet (human)

PMID:23241952 PMID:26310940

RGD:11056772 RGD:11522719

NCBI chr X:111,655,301...111,667,602
Ensembl chr X:111,655,397...111,666,639

G

CD46 molecule

no_association
susceptibility

DNA:missense mutation:cds:p.A304V (human)

PMID:21445332 PMID:25710174

RGD:11352807 RGD:6483459

NCBI chr25:21,650,825...21,693,898
Ensembl chr25:21,655,969...21,693,878

G

cyclin dependent kinase inhibitor 1C

OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592

NCBI chr 1:2,696,382...2,699,054
Ensembl chr 1:2,696,233...2,699,028

G

CCAAT enhancer binding protein alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 6:28,342,506...28,345,759
Ensembl chr 6:28,343,907...28,344,977

G

chitinase 3 like 1

protein:increased secretion:umbilical cord, serum (human)

NCBI chr25:26,160,993...26,169,005
Ensembl chr25:26,160,961...26,169,566

G

clusterin

DNA:SNP:exon:866C>T (human)

NCBI chr 8:25,704,441...25,721,789
Ensembl chr 8:25,703,257...25,721,789

G

chemerin chemokine-like receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:103,484,422...103,536,273

G

catechol-O-methyltransferase

OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592

NCBI chr19:5,775,829...5,803,260
Ensembl chr19:5,773,225...5,785,422

G

corin, serine peptidase

CTD Direct Evidence: marker/mechanism

NCBI chr27:2,407,451...2,662,855
Ensembl chr27:2,408,219...2,662,279

G

CREB binding protein

mRNA:decreased expression:placenta (human)

NCBI chr 5:3,415,548...3,570,030
Ensembl chr 5:3,415,412...3,540,943

G

cystatin C

protein:increased expression:plasma (human)

NCBI chr 2:52,834,497...52,838,785
Ensembl chr 2:52,832,181...52,838,865

G

cubilin

associated with late term delivery; mRNA:decreased expression:placenta (human)

NCBI chr 9:16,774,644...17,079,776
Ensembl chr 9:16,774,757...17,079,681

G

cytochrome P450 family 24 subfamily A member 1

mRNA:increased expression:placenta (human)
associated with hypoxia; protein:increased expression:placenta (human)

PMID:22871339 PMID:36477942

RGD:401901075 RGD:401901174

NCBI chr 2:9,868,794...9,889,510
Ensembl chr 2:9,868,678...9,885,884

G

cytochrome P450 family 27 subfamily B member 1

mRNA:increased expression:placenta (human)
associated with hypoxia; protein:increased expression:placenta (human)

PMID:22871339 PMID:36477942

RGD:401901075 RGD:401901174

NCBI chr11:53,675,704...53,681,372
Ensembl chr11:53,675,226...53,680,443

G

cytochrome P450 family 2 subfamily J member 2

mRNA:increased expression:placenta, decidua

NCBI chr20:73,083,312...73,115,174
Ensembl chr20:73,083,389...73,115,077

G

cytochrome P450 family 2 subfamily R member 1

associated with hypoxia; protein:decreased expression:placenta (human)
mRNA:decreased expression:placenta (human)

PMID:22871339 PMID:32682061 PMID:36477942

RGD:401901075 RGD:401901078 RGD:401901174

NCBI chr 1:50,030,366...50,043,833
Ensembl chr 1:50,031,218...50,047,403

G

DAB2 interacting protein

mRNA, protein:decreased expression:placenta (human)

NCBI chr12:17,802,030...18,017,648
Ensembl chr12:17,801,831...17,830,890

G

DDAH family member 2, ADMA-independent

CTD Direct Evidence: marker/mechanism

NCBI chr17:40,292,674...40,295,917
Ensembl chr17:40,292,707...40,295,712

G

dynein axonemal heavy chain 8

mRNA:decreased expression:placenta (human)

NCBI chr17:33,110,149...33,427,553
Ensembl chr17:33,110,289...33,419,519

G

estrogen receptor binding site associated antigen 9

protein:increased expression:decidua

NCBI chr 8:104,240,197...104,266,768
Ensembl chr 8:104,251,418...104,264,703

G

Epstein-Barr virus induced 3

ameliorates

NCBI chr 6:3,975,805...3,985,389
Ensembl chr 6:3,976,228...3,984,962

G

endothelin 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:59,854,186...59,861,319
Ensembl chr17:59,853,699...59,861,198

G

endothelin 2

NCBI chr20:91,425,979...91,432,609
Ensembl chr20:91,426,747...91,431,973

G

eukaryotic translation initiation factor 3 subunit D

CTD Direct Evidence: marker/mechanism

NCBI chr19:19,220,542...19,238,534
Ensembl chr19:19,221,199...19,238,468

G

endoglin

treatment
severity

protein:increased expression:plasma (mouse)
protein:increased expression:serum (rat)
protein:increased expression:serum (human)

PMID:20351341 PMID:22308016 PMID:22763474 PMID:23357179 PMID:23460287

RGD:7248767 RGD:7248768 RGD:7248777 RGD:7257524 RGD:7257530

NCBI chr12:10,274,705...10,315,715
Ensembl chr12:10,275,064...10,315,040

G

ectonucleoside triphosphate diphosphohydrolase 1

protein:decreased expression:abdominal fascia:

NCBI chr 9:88,921,826...89,034,418
Ensembl chr 9:88,922,007...89,032,880

G

endothelial PAS domain protein 1

NCBI chr14:60,823,110...60,912,804
Ensembl chr14:60,822,815...60,912,785

G

epoxide hydrolase 1

CTD Direct Evidence: marker/mechanism
DNA:polymorphism

PMID:11283205 PMID:12173035

NCBI chr25:3,924,396...3,960,264
Ensembl chr25:3,924,606...3,945,535

G

erb-b2 receptor tyrosine kinase 2

NCBI chr16:66,435,488...66,464,993
Ensembl chr16:66,434,251...66,464,952

G

estrogen receptor 2

NCBI chr24:41,426,333...41,513,802
Ensembl chr24:41,447,224...41,512,486

G

coagulation factor II thrombin receptor

NCBI chr 4:70,992,406...71,010,512
Ensembl chr 4:70,992,477...71,009,456

G

coagulation factor III, tissue factor

associated with Fetal Death;protein:increased expression:plasma

NCBI chr20:38,726,690...38,738,457
Ensembl chr20:38,726,798...38,739,408

G

coagulation factor V

severity

DNA:mutation: :1691G>A(human)

NCBI chr25:59,465,610...59,539,022
Ensembl chr25:59,466,378...59,538,872

G

fatty acid binding protein 4

protein:increased expression:blood serum (human)

NCBI chr 8:76,895,516...76,900,153
Ensembl chr 8:76,894,512...76,900,212

G

Fas ligand

susceptibility

DNA:SNP:intron:124A>G(rs5030772)(human)

NCBI chr25:56,488,572...56,496,469
Ensembl chr25:56,489,417...56,496,251

G

fms related receptor tyrosine kinase 1

CTD Direct Evidence: marker/mechanism
mRNA,protein:increased expression:placenta

PMID:15472115 PMID:18679377 PMID:22262697 PMID:28628106

RGD:1582493 RGD:243048428

NCBI chr 3:7,412,506...7,608,122
Ensembl chr 3:7,412,172...7,607,967

G

guanidinoacetate N-methyltransferase

mRNA:increased expression:placenta

NCBI chr 6:1,165,016...1,178,458
Ensembl chr 6:1,164,259...1,178,354

G

GATA binding protein 2

onset

NCBI chr22:52,549,112...52,562,911
Ensembl chr22:52,555,738...52,562,909

G

glycine amidinotransferase

mRNA:increased expression:placenta

NCBI chr26:37,836,207...37,853,811
Ensembl chr26:37,836,335...37,852,822

G

GC vitamin D binding protein

mRNA:decreased expression:placenta (human)

NCBI chr 7:20,254,604...20,298,384
Ensembl chr 7:20,253,879...20,298,265

G

glutathione peroxidase 1

protein:decreased expression:placenta
mRNA:decreased expression:placenta

PMID:18852388 PMID:20303587 PMID:28705740

RGD:401827170 RGD:401827825 RGD:401827849

NCBI chr22:10,754,976...10,756,617

G

glutathione peroxidase 3

protein:decreased expression:placenta
mRNA:decreased expression:placenta

PMID:18852388 PMID:20303587 PMID:28705740

RGD:401827170 RGD:401827825 RGD:401827849

NCBI chr23:53,576,950...53,585,321

G

glutathione peroxidase 4

protein:decreased expression:placenta
mRNA:decreased expression:placenta

PMID:18852388 PMID:20303587

RGD:401827170 RGD:401827849

NCBI chr 6:873,867...876,225

G

gelsolin

disease_progression

protein:decreased expression:blood plasma (human)

NCBI chr12:18,253,079...18,317,285
Ensembl chr12:18,253,324...18,285,938

G

glutathione S-transferase pi 1

susceptibility

DNA:missense mutation:cds:p.I105V (human)

NCBI chr 1:6,676,897...6,679,936

G

hypoxia inducible factor 1 subunit alpha

protein:increased expression:chorionic villus (human)

NCBI chr24:38,873,830...38,927,657
Ensembl chr24:38,873,861...38,928,288

G

heme oxygenase 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:18,144,466...18,157,944
Ensembl chr19:18,144,545...18,157,971

G

HNF1 homeobox A

susceptibility

associated with gestational diabetes;DNA:SNP:cd: p.I27L (rs1169288) (human)

NCBI chr11:116,334,935...116,358,582
Ensembl chr11:116,335,675...116,357,751

G

hydroxysteroid 11-beta dehydrogenase 1

susceptibility

DNA:SNPs,haplotype: (rs2235543,rs846910) (human)

NCBI chr25:19,720,096...19,772,806
Ensembl chr25:19,719,848...19,750,200

G

intercellular adhesion molecule 1

treatment

NCBI chr 6:9,320,991...9,338,125
Ensembl chr 6:9,322,550...9,338,263

G

indoleamine 2,3-dioxygenase 1

OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592

NCBI chr 8:37,930,910...37,950,790
Ensembl chr 8:37,930,562...37,946,505

G

interleukin 1 receptor antagonist

protein:increased expression:serum (human)

NCBI chr14:16,136,667...16,152,451
Ensembl chr14:16,146,333...16,151,326

G

interleukin 6

ameliorates

NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237

G

inhibin subunit beta A

CTD Direct Evidence: marker/mechanism

NCBI chr21:16,936,054...16,951,430
Ensembl chr21:16,936,175...16,946,880

G

iron-sulfur cluster assembly enzyme

mRNA:decreased expression:chorionic villus (human)

NCBI chr11:103,753,175...103,760,168
Ensembl chr11:103,753,189...103,760,364

G

integrin subunit alpha 4

protein:increased expression:blood, granulocyte (rat)

NCBI chr10:66,984,687...67,063,158
Ensembl chr10:66,984,887...67,061,636

G

integrin subunit alpha M

associated with Fetal Growth Retardation;mRNA:decreased expression:placenta (human)
protein:increased expression:neutrophil (human)
DNA:missense mutations:CDS:p.M441K (rs1143680), p.T1000N (rs41321249) (human)

PMID:18437152 PMID:32014817 PMID:33539617

RGD:329853770 RGD:329901659 RGD:329901825

NCBI chr 5:27,957,162...28,042,697
Ensembl chr 5:27,957,324...28,042,691

G

inositol 1,4,5-trisphosphate receptor type 1

mRNA:decreased expression:placenta (human)

NCBI chr22:40,574,569...40,925,857
Ensembl chr22:40,574,374...40,926,842

G

inositol 1,4,5-trisphosphate receptor type 2

mRNA:decreased expression:placenta (human)

NCBI chr11:26,089,480...26,574,621
Ensembl chr11:26,089,484...26,574,950

G

inositol 1,4,5-trisphosphate receptor type 3

mRNA:decreased expression:placenta (human)

NCBI chr17:38,381,862...38,456,505
Ensembl chr17:38,381,743...38,456,499

G

potassium calcium-activated channel subfamily N member 4

protein:decreased expression:umbilical artery,umbilical vein (human)

NCBI chr 6:37,289,088...37,316,850

G

KiSS-1 metastasis suppressor

mRNA:decreased expression:whole blood

NCBI chr25:25,151,642...25,159,723

G

lipocalin 2

protein:increased expression:serum,urine

NCBI chr12:9,976,278...9,981,087
Ensembl chr12:9,976,614...9,980,870

G

leptin

protein:decreased expression:plasma

NCBI chr21:97,056,913...97,071,161
Ensembl chr21:97,057,529...97,071,220

G

leptin receptor

protein:increased expression:placenta

NCBI chr20:67,454,205...67,567,524
Ensembl chr20:67,454,334...67,524,229

G

matrix metallopeptidase 2

mRNA, protein:decreased expression:placenta

NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004

G

matrix metallopeptidase 9

mRNA, protein:decreased expression:placenta

PMID:17083831 PMID:23776237

RGD:13204787 RGD:2290399

NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712

G

nitric oxide synthase 3

treatment

CTD Direct Evidence: marker/mechanism

NCBI chr21:119,174,829...119,196,840

G

notch receptor 2

OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592

NCBI chr20:13,712,140...13,871,777
Ensembl chr20:13,712,292...13,871,784

G

nuclear receptor subfamily 1 group H member 3

exacerbates

mRNA, protein:increased expression:placenta (human)
mRNA:altered expression:placenta, adipose tissue (human)

PMID:20655109 PMID:28352810

RGD:401842369 RGD:401850787

NCBI chr 1:18,041,495...18,061,196
Ensembl chr 1:18,041,830...18,051,501

G

nuclear receptor binding SET domain protein 1

ClinVar Annotator: match by term: Preeclampsia

PMID:12464997 PMID:12807965 PMID:15942875 PMID:17565729 PMID:18414213 More...

NCBI chr23:79,140,148...79,309,579
Ensembl chr23:79,141,114...79,304,820

G

8-oxoguanine DNA glycosylase

mRNA:increased expression:placenta (human)

NCBI chr22:45,757,414...45,763,690

G

programmed cell death 1

treatment

protein:increased expression:Treg cell

NCBI chr10:127,877,383...127,886,234
Ensembl chr10:127,878,554...127,886,088

G

phosphodiesterase 5A

NCBI chr 7:66,826,316...66,955,220
Ensembl chr 7:66,826,315...66,955,036

G

paternally expressed 10

onset

mRNA, protein:decreased expression:placenta (human)
mRNA, protein:increased expression:placenta (human)

PMID:22137777 PMID:25526181 PMID:37464405

RGD:401851069 RGD:401851073 RGD:401851074

NCBI chr21:54,371,708...54,384,874

G

placental growth factor

PMID:20720407 PMID:21756887

RGD:6483577 RGD:6483779

NCBI chr24:52,160,904...52,174,493
Ensembl chr24:52,161,787...52,173,989

G

plasminogen activator, urokinase receptor

protein:increased expression:plasma

NCBI chr 6:37,161,957...37,191,867

G

PML nuclear body scaffold

mRNA:decreased expression:placenta (human)

NCBI chr26:9,441,998...9,494,949
Ensembl chr26:9,451,112...9,494,931

G

peroxisome proliferator activated receptor gamma

CTD Direct Evidence: marker/mechanism

PMID:15562025 PMID:34995009

NCBI chr22:48,262,743...48,407,415
Ensembl chr22:48,275,600...48,407,418

G

protein C, inactivator of coagulation factors Va and VIIIa

NCBI chr10:2,789,227...2,799,783
Ensembl chr10:2,789,277...2,799,531

G

prostaglandin-endoperoxide synthase 1

OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592

NCBI chr12:17,195,403...17,218,450
Ensembl chr12:17,192,628...17,218,315

G

protein tyrosine phosphatase non-receptor type 2

disease_progression

mRNA:decreased expression:placenta (human)

NCBI chr18:71,302,082...71,400,201
Ensembl chr18:71,310,577...71,345,960

G

retinoic acid receptor responder 2

CTD Direct Evidence: marker/mechanism

NCBI chr21:118,487,199...118,490,561
Ensembl chr21:118,487,506...118,489,516

G

retinol binding protein 4

disease_progression

protein:decreased expression:umbilical cord,blood serum (human)
protein:increased expression:blood serum (human)

PMID:21173508 PMID:21299359

RGD:329845578 RGD:329845866

NCBI chr 9:86,831,042...86,840,668
Ensembl chr 9:86,830,957...86,840,250

G

roundabout guidance receptor 1

mRNA,protein:increased expression:placenta

NCBI chr22:97,178,093...98,363,647
Ensembl chr22:98,222,891...98,363,219

G

roundabout guidance receptor 4

mRNA,protein:increased expression:placenta

NCBI chr 1:116,027,516...116,041,771
Ensembl chr 1:116,026,834...116,041,422

G

ryanodine receptor 1

mRNA:decreased expression:placenta (human)

NCBI chr 6:33,080,443...33,234,478
Ensembl chr 6:33,080,758...33,213,788

G

ryanodine receptor 2

mRNA:decreased expression:placenta (human)

NCBI chr25:74,169,024...74,951,371
Ensembl chr25:74,389,122...74,953,451

G

S100 calcium binding protein G

mRNA:decreased expression:placenta (human)

NCBI chr X:15,082,230...15,087,327
Ensembl chr X:15,083,524...15,087,004

G

sodium channel epithelial 1 subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr11:6,384,073...6,418,620
Ensembl chr11:6,383,956...6,416,337

G

serpin family A member 1

NCBI chr24:72,158,521...72,171,139
Ensembl chr24:72,156,784...72,163,500

G

serpin family E member 1

mRNA:increased expression:blood:
CTD Direct Evidence: marker/mechanism

PMID:16952198 PMID:18679377

NCBI chr28:12,047,520...12,060,662
Ensembl chr28:12,047,529...12,060,202

G

serpin family F member 2

protein:increased expression:urine

NCBI chr16:1,392,562...1,404,574
Ensembl chr16:1,392,571...1,404,636

G

solute carrier family 2 member 1

mRNA:decreased expression:chorionic villus (human)

NCBI chr20:89,974,567...90,007,977
Ensembl chr20:90,002,030...90,008,033

G

storkhead box 1

no_association

DNA:missense mutation:cds:p.Y153H (human)
human fetally expressed gene in a mouse model

PMID:15806103 PMID:17617193 PMID:23357179

RGD:11553888 RGD:11553890 RGD:7248768

NCBI chr 9:62,518,872...62,589,107
Ensembl chr 9:62,524,049...62,533,821

G

tissue factor pathway inhibitor

protein:increased expression:plasma:

NCBI chr10:73,004,762...73,105,772
Ensembl chr10:73,002,522...73,105,858

G

TIMP metallopeptidase inhibitor 1

mRNA, protein:increased expression:placenta

G

toll like receptor 3

protein:increased expression:placenta (rat)

NCBI chr 7:131,991,068...132,014,366
Ensembl chr 7:131,991,029...132,016,232

G

toll like receptor 4

NCBI chr12:21,873,762...21,885,562
Ensembl chr12:21,871,773...21,885,515

G

tumor necrosis factor

ameliorates

PMID:15901845 PMID:31203154

RGD:1580314 RGD:213230155

G

TNF receptor superfamily member 1B

human protein in rat model

NCBI chr20:119,590,621...119,633,562
Ensembl chr20:119,590,325...119,633,497

G

transient receptor potential cation channel subfamily V member 5

mRNA:decreased expression:placenta (human)

NCBI chr21:111,787,214...111,816,893
Ensembl chr21:111,787,694...111,811,847

G

transient receptor potential cation channel subfamily V member 6

mRNA:decreased expression:placenta (human)

NCBI chr21:111,750,821...111,766,274
Ensembl chr21:111,750,945...111,765,450

G

urotensin 2

NCBI chr20:123,903,137...123,910,180

G

vitamin D receptor

protein:decreased expression:placenta (human)
mRNA:decreased expression:placenta (human)
associated with Premature Birth; mRNA:increased expression:placenta (human)

PMID:22871339 PMID:32682061 PMID:36477942

RGD:401901075 RGD:401901078 RGD:401901174

NCBI chr11:44,062,198...44,126,295
Ensembl chr11:44,065,457...44,166,684

G

vascular endothelial growth factor A

mRNA:decreased expression:chorionic villus (human)

PMID:16517614 PMID:22840297

RGD:155631283 RGD:1580566

NCBI chr17:28,377,959...28,394,508

Preeclampsia/Eclampsia 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

storkhead box 1

ClinVar Annotator: match by term: Preeclampsia/eclampsia 4 | ClinVar Annotator: match by term: STOX1-related condition

PMID:15806103 PMID:17325670 PMID:25741868 PMID:33116287

NCBI chr 9:62,518,872...62,589,107
Ensembl chr 9:62,524,049...62,533,821

Preeclampsia/Eclampsia 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

corin, serine peptidase

ClinVar Annotator: match by term: Preeclampsia/eclampsia 5

PMID:22437503 PMID:24828501 PMID:25741868 PMID:28492532

NCBI chr27:2,407,451...2,662,855
Ensembl chr27:2,408,219...2,662,279

Preeclamptic Toxemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

platelet and endothelial cell adhesion molecule 1

NCBI chr16:56,863,763...56,947,479
Ensembl chr16:56,880,934...56,950,999

G

renin

protein:increased activity:blood plasma (human)

NCBI chr25:25,159,816...25,193,620
Ensembl chr25:25,183,037...25,193,420

Pregnancy-Induced Hypertension

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin converting enzyme 2

NCBI chr X:14,032,231...14,094,163
Ensembl chr X:14,030,233...14,077,785

G

angiotensinogen

NCBI chr25:67,964,840...67,977,006
Ensembl chr25:67,962,401...67,973,324

G

endothelin 1

no_association

DNA:transversion:exon:p.K198N rs5370 (human)

PMID:11593097 PMID:19730395

RGD:4145063 RGD:4145070

NCBI chr17:59,854,186...59,861,319
Ensembl chr17:59,853,699...59,861,198

G

glutathione peroxidase 3

protein:increased expression:plasma

NCBI chr23:53,576,950...53,585,321

G

heme oxygenase 1

treatment

NCBI chr19:18,144,466...18,157,944
Ensembl chr19:18,144,545...18,157,971

G

nitric oxide synthase 3

ClinVar Annotator: match by term: Hypertension, pregnancy-induced, susceptibility to

PMID:9737779 PMID:9894802 PMID:10475066 PMID:10510054 PMID:10514107 More...

NCBI chr21:119,174,829...119,196,840

G

retinol binding protein 4

protein:increased expression, decreased expression:blood serum, umbilical cord blood (human)

NCBI chr 9:86,831,042...86,840,668
Ensembl chr 9:86,830,957...86,840,250

G

tissue factor pathway inhibitor

mRNA:decreased expression:aorta:

NCBI chr10:73,004,762...73,105,772
Ensembl chr10:73,002,522...73,105,858

G

tumor necrosis factor

treatment

primary pulmonary hypertension

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

abl interactor 2

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr10:89,074,333...89,314,144
Ensembl chr10:89,075,798...89,181,235

G

acyl-CoA dehydrogenase long chain

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr10:95,886,502...95,925,928
Ensembl chr10:95,887,465...95,925,578

G

activin A receptor like type 1

ClinVar Annotator: match by term: Heritable pulmonary arterial hypertension

PMID:25741868 PMID:28492532 PMID:31727138

NCBI chr11:48,063,099...48,091,705
Ensembl chr11:48,082,135...48,093,630

G

ADAM metallopeptidase domain 23

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr10:92,218,999...92,390,905
Ensembl chr10:92,219,253...92,391,091

G

adenosine A2a receptor

OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344

NCBI chr19:7,691,678...7,706,781
Ensembl chr19:7,691,536...7,706,926

G

alsin Rho guanine nucleotide exchange factor ALS2

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074

NCBI chr10:87,389,130...87,473,134

G

bone morphogenetic protein receptor type 1B

ClinVar Annotator: match by term: Idiopathic pulmonary arterial hypertension

PMID:22374147 PMID:25741868 PMID:25758993 PMID:28492532

G

bone morphogenetic protein receptor type 2

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

PMID:3291115 PMID:9536098 PMID:10903931 PMID:10973254 PMID:11015450 More...

NCBI chr10:88,103,442...88,302,578
Ensembl chr10:88,106,072...88,303,734

G

calcium responsive transcription factor

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr10:88,650,436...88,735,369
Ensembl chr10:88,651,152...88,735,384

G

caveolin 1

CTD Direct Evidence: marker/mechanism

NCBI chr21:85,222,724...85,258,562
Ensembl chr21:85,222,879...85,258,627

G

cyclin Y like 1

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr10:93,493,768...93,537,048
Ensembl chr10:93,493,742...93,536,267

G

CD28 molecule

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr10:89,471,710...89,505,152
Ensembl chr10:89,471,730...89,500,387

G

cyclin dependent kinase 15

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074

NCBI chr10:87,499,225...87,592,748
Ensembl chr10:87,499,808...87,589,730

G

chemerin chemokine-like receptor 2

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr10:91,947,418...91,994,064
Ensembl chr10:91,948,260...91,949,327

G

carboxypeptidase O

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr10:92,724,991...92,756,432
Ensembl chr10:92,726,016...92,756,393

G

carbamoyl-phosphate synthase 1

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr10:96,267,890...96,392,393
Ensembl chr10:96,267,889...96,392,206

G

cAMP responsive element binding protein 1

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr10:93,316,774...93,395,187
Ensembl chr10:93,316,840...93,388,832

G

crystallin gamma C

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr10:93,925,842...93,928,514
Ensembl chr10:93,925,908...93,927,583

G

crystallin gamma D

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr10:93,919,234...93,922,120
Ensembl chr10:93,919,304...93,922,029

G

cytotoxic T-lymphocyte associated protein 4

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr10:89,637,176...89,644,436
Ensembl chr10:89,638,314...89,642,344

G

chromosome unknown C2orf80 homolog

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr10:93,970,325...93,994,849
Ensembl chr10:93,970,069...93,994,622

G

cytochrome P450 family 20 subfamily A member 1

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr10:88,986,394...89,051,344
Ensembl chr10:88,987,016...89,042,537

G

dystrotelin

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr10:92,423,056...92,495,677
Ensembl chr10:92,423,591...92,485,932

G

eukaryotic translation elongation factor 1 beta 2

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr10:91,927,639...91,930,972

G

family with sequence similarity 117 member B

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr10:88,370,979...88,513,138

G

FAST kinase domains 2

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr10:92,550,245...92,585,250
Ensembl chr10:92,549,883...92,587,039

G

F-box protein 32

mRNA:increased expression:vastus lateralis

NCBI chr 8:118,071,856...118,115,761

G

fibroblast growth factor receptor 2

protein:increased expression:lung (human)

NCBI chr 9:114,234,344...114,354,736
Ensembl chr 9:114,234,250...114,354,704

G

forkhead box F1

ClinVar Annotator: match by term: Idiopathic and/or familial pulmonary arterial hypertension

PMID:19500772 PMID:19592680 PMID:19812545 PMID:20425831 PMID:22766610 More...

NCBI chr 5:71,898,473...71,902,624
Ensembl chr 5:71,898,786...71,903,661

G

frizzled class receptor 5

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr10:93,545,792...93,553,092
Ensembl chr10:93,550,189...93,551,946

G

frizzled class receptor 7

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074

NCBI chr10:87,734,263...87,738,676
Ensembl chr10:87,734,872...87,736,596

G

histone deacetylase 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:100,529,782...100,575,953
Ensembl chr20:100,530,369...100,558,556

G

histone deacetylase 4

CTD Direct Evidence: marker/mechanism

NCBI chr10:125,098,375...125,450,524
Ensembl chr10:125,098,366...125,403,227

G

histone deacetylase 5

CTD Direct Evidence: marker/mechanism

NCBI chr16:62,267,837...62,314,914
Ensembl chr16:62,274,041...62,315,094

G

islet cell autoantigen 1 like

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr10:88,492,255...88,609,268
Ensembl chr10:88,517,716...88,569,031

G

inducible T cell costimulator

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr10:89,706,755...89,732,600
Ensembl chr10:89,726,489...89,732,944

G

isocitrate dehydrogenase (NADP(+)) 1

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr10:94,021,002...94,039,997
Ensembl chr10:94,020,818...94,039,975

G

INO80 complex subunit D

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr10:91,770,873...91,864,797
Ensembl chr10:91,781,563...91,843,787

G

KAT8 regulatory NSL complex subunit 1 like

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr10:95,721,081...95,869,914
Ensembl chr10:95,718,922...95,851,869

G

potassium two pore domain channel subfamily K member 3

CTD Direct Evidence: marker/mechanism

NCBI chr14:80,905,168...80,945,972
Ensembl chr14:80,906,608...80,945,806

G

KLF transcription factor 7

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr10:92,854,234...92,943,908
Ensembl chr10:92,859,000...92,944,062

G

LanC like glutathione S-transferase 1

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr10:96,144,156...96,191,023
Ensembl chr10:96,144,541...96,191,030

G

gamma-crystallin B

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr10:93,945,141...93,950,725

G

DNA-binding protein inhibitor ID-1

protein:decreased expression:lung, wall of arteriole (human)

NCBI chr 2:36,008,660...36,009,880
Ensembl chr 2:36,008,636...36,010,017

G

microtubule associated protein 2

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr10:95,319,649...95,431,106
Ensembl chr10:95,349,157...95,431,320

G

malate dehydrogenase 1B

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr10:92,511,706...92,550,302
Ensembl chr10:92,510,429...92,550,598

G

methyltransferase 21A, HSPA lysine

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr10:93,400,602...93,416,630
Ensembl chr10:93,398,111...93,416,535

G

mitofusin 1

protein:decreased expression:vastus lateralis

NCBI chr15:10,050,616...10,093,118
Ensembl chr15:10,047,599...10,093,126

G

mitofusin 2

protein:decreased expression:vastus lateralis

NCBI chr20:119,787,700...119,818,455
Ensembl chr20:119,787,370...119,816,693

G

myosin light chain 1

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr10:96,015,186...96,041,862
Ensembl chr10:96,015,034...96,029,160

G

neurobeachin like 1

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr10:88,763,320...88,965,040
Ensembl chr10:88,764,111...88,963,364

G

NADH:ubiquinone oxidoreductase core subunit S1

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr10:91,893,337...91,927,559
Ensembl chr10:91,893,616...91,927,592

G

NOP58 ribonucleoprotein

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074

NCBI chr10:87,989,687...88,026,774
Ensembl chr10:87,989,699...88,026,904

G

neuropilin 2

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr10:91,460,179...91,575,408
Ensembl chr10:91,460,373...91,557,430

G

par-3 family cell polarity regulator beta

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr10:90,313,506...91,394,090
Ensembl chr10:90,857,460...91,389,718

G

phosphoinositide kinase, FYVE-type zinc finger containing

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr10:94,051,096...94,144,968
Ensembl chr10:94,056,923...94,145,268

G

pleckstrin homology domain containing M3

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr10:93,612,617...93,816,814
Ensembl chr10:93,616,714...93,816,476

G

peroxisome proliferator activated receptor gamma

OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344

NCBI chr22:48,262,743...48,407,415
Ensembl chr22:48,275,600...48,407,418

G

prostaglandin I2 synthase

DNA:SNP, missense mutations:intron 4, CDS:c.521+1G>A, p.R252Q (c.755G>A), p.A447T (c.1339G>A) (, rs759344518, rs146531327) (human)

NCBI chr 2:14,420,318...14,484,667
Ensembl chr 2:14,441,983...14,488,264

G

parathyroid hormone 2 receptor

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr10:94,146,254...94,284,056
Ensembl chr10:94,216,493...94,283,743

G

Ras association (RalGDS/AF-6) and pleckstrin homology domains 1

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr10:89,191,220...89,294,746
Ensembl chr10:89,192,772...89,250,757

G

replication factor C subunit 1

mRNA:increased expression:lung (human)

NCBI chr27:10,936,445...11,013,457
Ensembl chr27:10,936,461...11,006,679

G

ribulose-5-phosphate-3-epimerase

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr10:95,702,525...95,721,807

G

ryanodine receptor 1

protein:increased phosphorylation:vastus lateralis

NCBI chr 6:33,080,443...33,234,478
Ensembl chr 6:33,080,758...33,213,788

G

SMAD family member 9

OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
CTD Direct Evidence: marker/mechanism

NCBI chr 3:15,369,119...15,444,599
Ensembl chr 3:15,372,933...15,405,836

G

SRY-box transcription factor 17

protein:decreased expression:pulmonary artery (human)

NCBI chr 8:50,523,816...50,527,360
Ensembl chr 8:50,524,893...50,527,847

G

small ubiquitin like modifier 1

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074

NCBI chr10:87,917,324...87,957,152

G

TNF superfamily member 4

OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344

NCBI chr25:55,714,291...55,998,009
Ensembl chr25:55,974,691...55,997,374

G

tripartite motif containing 63

mRNA, protein:increased expression:vastus lateralis

NCBI chr20:106,676,299...106,714,394
Ensembl chr20:106,703,949...106,716,656

G

unc-80 homolog, NALCN channel complex subunit

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr10:95,462,153...95,700,498
Ensembl chr10:95,462,834...95,700,514

G

vasoactive intestinal peptide

OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344

NCBI chr13:80,217,602...80,228,320
Ensembl chr13:80,218,572...80,228,278

G

WD repeat domain 12

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr10:88,616,540...88,649,743
Ensembl chr10:88,616,797...88,649,418

G

zinc finger DBF-type containing 2

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr10:92,053,136...92,092,270
Ensembl chr10:92,060,623...92,092,258

primary pulmonary hypertension 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activin A receptor like type 1

ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1

PMID:9245985 PMID:12700602 PMID:14684682 PMID:15024723 PMID:15879500 More...

NCBI chr11:48,063,099...48,091,705
Ensembl chr11:48,082,135...48,093,630

G

bone morphogenetic protein receptor type 2

ClinVar Annotator: match by term: BMPR2-related disorder | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia

PMID:3291115 PMID:9536098 PMID:9886286 PMID:10903931 PMID:10973254 More...

NCBI chr10:88,103,442...88,302,578
Ensembl chr10:88,106,072...88,303,734

G

endoglin

ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1

PMID:16690726 PMID:16754821 PMID:18498373 PMID:23298310 PMID:24033266 More...

NCBI chr12:10,274,705...10,315,715
Ensembl chr12:10,275,064...10,315,040

G

potassium voltage-gated channel subfamily A member 5

ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1

PMID:20018952 PMID:21685056 PMID:23861362 PMID:24068186 PMID:25076992 More...

NCBI chr11:5,085,221...5,088,135
Ensembl chr11:5,085,518...5,087,335

G

potassium two pore domain channel subfamily K member 3

ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1

NCBI chr14:80,905,168...80,945,972
Ensembl chr14:80,906,608...80,945,806

G

NOP58 ribonucleoprotein

ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1

NCBI chr10:87,989,687...88,026,774
Ensembl chr10:87,989,699...88,026,904

G

phenylalanine hydroxylase

ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1

PMID:1301187 PMID:1682234 PMID:1769645 PMID:2044609 PMID:2574153 More...

NCBI chr11:98,065,869...98,140,011
Ensembl chr11:98,063,199...98,139,285

G

SMAD family member 1

ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1

NCBI chr 7:92,047,273...92,123,451
Ensembl chr 7:92,079,914...92,123,429

G

SMAD family member 4

ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1

PMID:21898662 PMID:24728327 PMID:25502805 PMID:25741868 PMID:28492532 More...

NCBI chr18:29,894,157...29,951,445
Ensembl chr18:29,897,621...29,934,478

G

SMAD family member 9

ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1

NCBI chr 3:15,369,119...15,444,599
Ensembl chr 3:15,372,933...15,405,836

G

T-box transcription factor 4

ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1

PMID:9536098 PMID:15106123 PMID:16199547 PMID:17576681 PMID:23592887 More...

NCBI chr16:32,677,878...32,715,169
Ensembl chr16:32,683,921...32,711,674

primary pulmonary hypertension 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SMAD family member 9

ClinVar Annotator: match by term: Pulmonary hypertension, primary, 2 | ClinVar Annotator: match by term: SMAD9-related condition

PMID:9536098 PMID:16199547 PMID:17576681 PMID:19211612 PMID:19419974 More...

NCBI chr 3:15,369,119...15,444,599
Ensembl chr 3:15,372,933...15,405,836

primary pulmonary hypertension 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein receptor type 1B

ClinVar Annotator: match by term: Pulmonary hypertension, primary, 3

PMID:25741868 PMID:28492532

G

caveolin 1

ClinVar Annotator: match by term: Pulmonary hypertension, primary, 3

PMID:22474227 PMID:25741868 PMID:28492532 PMID:29231014 PMID:30029678 More...

NCBI chr21:85,222,724...85,258,562
Ensembl chr21:85,222,879...85,258,627

primary pulmonary hypertension 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

potassium two pore domain channel subfamily K member 3

ClinVar Annotator: match by term: Pulmonary hypertension, primary, 4

PMID:9536098 PMID:17576681 PMID:23883380 PMID:24033266 PMID:25741868 More...

NCBI chr14:80,905,168...80,945,972
Ensembl chr14:80,906,608...80,945,806

primary pulmonary hypertension 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase 13A3

ClinVar Annotator: match by term: ATP13A3-related condition | ClinVar Annotator: match by term: Pulmonary hypertension, primary, autosomal recessive

PMID:25741868 PMID:28492532 PMID:30679663 PMID:31727138 PMID:34493544 More...

NCBI chr15:88,497,643...88,584,833
Ensembl chr15:88,497,648...88,557,494

primary pulmonary hypertension 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calpain small subunit 1

ClinVar Annotator: match by term: Pulmonary hypertension, primary, 6

PMID:21972389 PMID:38230350

NCBI chr 6:31,049,509...31,061,219
Ensembl chr 6:31,050,494...31,061,421

Progressive Renal Failure with Hypertension

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcitonin

NCBI chr 1:49,946,574...49,956,010
Ensembl chr 1:49,951,694...49,954,092

Pulmonary Arterial Hypertension

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 8

ClinVar Annotator: match by term: Pulmonary arterial hypertension

PMID:25117148 PMID:25741868

NCBI chr 1:47,494,861...47,578,818
Ensembl chr 1:47,494,959...47,578,882

G

abl interactor 2

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr10:89,074,333...89,314,144
Ensembl chr10:89,075,798...89,181,235

G

activin A receptor like type 1

ClinVar Annotator: match by term: Pulmonary arterial hypertension

PMID:10767348 PMID:11484689 PMID:12114496 PMID:14684682 PMID:15024723 More...

NCBI chr11:48,063,099...48,091,705
Ensembl chr11:48,082,135...48,093,630

G

aryl hydrocarbon receptor

severity

CTD Direct Evidence: marker/mechanism
protein:increased activity:serum (human)

NCBI chr21:40,778,198...40,826,491
Ensembl chr21:40,778,218...40,826,478

G

alpha hemoglobin stabilizing protein

mRNA:altered expression: (human)

NCBI chr 5:28,226,778...28,227,743
Ensembl chr 5:28,226,598...28,227,780

G

alsin Rho guanine nucleotide exchange factor ALS2

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr10:87,389,130...87,473,134

G

apelin

treatment

NCBI chr X:104,885,639...104,896,371
Ensembl chr X:104,888,996...104,895,014

G

ATPase 13A3

ClinVar Annotator: match by term: Pulmonary arterial hypertension

PMID:25741868 PMID:28492532 PMID:30679663 PMID:31727138 PMID:34493544 More...

NCBI chr15:88,497,643...88,584,833
Ensembl chr15:88,497,648...88,557,494

G

axin 2

exacerbates

NCBI chr16:55,874,043...55,906,739
Ensembl chr16:55,874,072...55,907,281

G

bone morphogenetic protein 7

protein:increased expression:lung, pulmonary artery (rat)

NCBI chr 2:6,856,396...6,954,948
Ensembl chr 2:6,856,453...6,954,944

G

bone morphogenetic protein receptor type 1A

ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease

PMID:24121792 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30029678 More...

NCBI chr 9:44,944,463...45,108,832
Ensembl chr 9:44,941,460...45,027,275

G

bone morphogenetic protein receptor type 1B

ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease

PMID:25741868 PMID:30029678

G

bone morphogenetic protein receptor type 2

treatment

ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease

PMID:3291115 PMID:9536098 PMID:9886286 PMID:10903931 PMID:10973254 More...

NCBI chr10:88,103,442...88,302,578
Ensembl chr10:88,106,072...88,303,734

G

basic leucine zipper and W2 domains 1

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr10:86,462,931...86,475,381
Ensembl chr10:86,463,010...86,473,740

G

C2 calcium dependent domain containing 6

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr10:87,133,453...87,303,521
Ensembl chr10:87,133,461...87,302,735

G

calcium responsive transcription factor

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr10:88,650,436...88,735,369
Ensembl chr10:88,651,152...88,735,384

G

caspase 10

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr10:86,830,101...86,884,729
Ensembl chr10:86,830,589...86,871,200

G

caspase 8

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr10:86,888,654...86,944,159
Ensembl chr10:86,916,527...86,943,829

G

caveolin 1

ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease

PMID:25741868 PMID:28492532 PMID:30029678

NCBI chr21:85,222,724...85,258,562
Ensembl chr21:85,222,879...85,258,627

G

CD28 molecule

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr10:89,471,710...89,505,152
Ensembl chr10:89,471,730...89,500,387

G

cadherin 2

mRNA:increased expression:lung

NCBI chr18:52,426,381...52,652,986
Ensembl chr18:52,426,077...52,654,828

G

cyclin dependent kinase 15

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr10:87,499,225...87,592,748
Ensembl chr10:87,499,808...87,589,730

G

CASP8 and FADD like apoptosis regulator

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr10:86,768,252...86,819,963
Ensembl chr10:86,782,240...86,816,652

G

CDC like kinase 1

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr10:86,508,513...86,520,082

G

cAMP responsive element binding protein 1

treatment

NCBI chr10:93,316,774...93,395,187
Ensembl chr10:93,316,840...93,388,832

G

cytotoxic T-lymphocyte associated protein 4

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr10:89,637,176...89,644,436
Ensembl chr10:89,638,314...89,642,344

G

catenin delta 1

protein:decreased expression:lung

NCBI chr 1:15,408,581...15,466,457
Ensembl chr 1:15,411,454...15,466,456

G

cytochrome P450 family 20 subfamily A member 1

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr10:88,986,394...89,051,344
Ensembl chr10:88,987,016...89,042,537

G

dimethylarginine dimethylaminohydrolase 1

exacerbates

compared to wild type

NCBI chr20:47,788,410...48,031,868
Ensembl chr20:47,891,289...48,032,343

G

deoxyhypusine synthase

protein:increased expression:pulmonary arterial smooth muscle:

NCBI chr 6:11,364,192...11,370,485
Ensembl chr 6:11,362,752...11,370,370

G

deoxyhypusine hydroxylase

protein:increased expression:pulmonary arterial smooth muscle, pulmonary artery, right ventricle:

NCBI chr 6:3,256,088...3,272,082
Ensembl chr 6:3,256,087...3,265,460

G

eukaryotic translation initiation factor 2 alpha kinase 4

ClinVar Annotator: match by term: Pulmonary arterial hypertension

PMID:12215525 PMID:24135949 PMID:24292273 PMID:24310610 PMID:25741868 More...

NCBI chr26:42,966,095...43,072,083
Ensembl chr26:42,962,447...43,072,001

G

eukaryotic translation initiation factor 5A

protein:increased expression:pulmonary arterial smooth muscle, pulmonary artery, right ventricle

NCBI chr16:6,685,908...6,691,159

G

endoglin

ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease

PMID:10625079 PMID:15517393 PMID:15521985 PMID:15879500 PMID:16705692 More...

NCBI chr12:10,274,705...10,315,715
Ensembl chr12:10,275,064...10,315,040

G

family with sequence similarity 117 member B

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr10:88,370,979...88,513,138

G

fragile histidine triad diadenosine triphosphatase

NCBI chr22:21,006,010...22,474,056

G

flagellum associated containing coiled-coil domains 1

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr10:86,945,622...87,009,252
Ensembl chr10:86,946,674...87,007,579

G

FTO alpha-ketoglutarate dependent dioxygenase

protein:decreased expression:lung

NCBI chr 5:39,487,304...39,900,238
Ensembl chr 5:39,487,418...39,725,747

G

frizzled class receptor 7

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr10:87,734,263...87,738,676
Ensembl chr10:87,734,872...87,736,596

G

growth differentiation factor 2

ClinVar Annotator: match by term: Pulmonary arterial hypertension

PMID:25741868 PMID:26801773 PMID:28492532 PMID:31661308 PMID:31727138

NCBI chr 9:44,087,502...44,092,975
Ensembl chr 9:44,089,358...44,092,484

G

gap junction protein beta 2

ClinVar Annotator: match by term: Pulmonary arterial hypertension

PMID:17666888 PMID:25741868 PMID:30755392

NCBI chr 3:801,786...808,165
Ensembl chr 3:807,379...808,059

G

glutathione peroxidase 3

associated with systemic scleroderma;protein:decreased expression:serum

NCBI chr23:53,576,950...53,585,321

G

5-hydroxytryptamine receptor 1B

protein:increased expression:endothelium, smooth muscle, pulmonary artery

NCBI chr13:2,143,646...2,145,943
Ensembl chr13:2,144,313...2,145,485

G

hyccin PI4KA lipid kinase complex subunit 2

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr10:86,645,109...86,723,148
Ensembl chr10:86,644,742...86,723,138

G

HYDIN axonemal central pair apparatus protein

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 5:53,950,286...54,435,770
Ensembl chr 5:53,950,886...54,335,689

G

islet cell autoantigen 1 like

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr10:88,492,255...88,609,268
Ensembl chr10:88,517,716...88,569,031

G

inducible T cell costimulator

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr10:89,706,755...89,732,600
Ensembl chr10:89,726,489...89,732,944

G

interferon gamma

treatment

NCBI chr11:63,785,493...63,791,071
Ensembl chr11:63,786,041...63,790,473

G

insulin like growth factor 1 receptor

treatment

NCBI chr29:17,212,206...17,534,036
Ensembl chr29:17,459,404...17,526,930

G

interleukin 2

treatment

NCBI chr 7:69,729,635...69,736,279
Ensembl chr 7:69,730,282...69,734,969

G

inositol monophosphatase 1

NCBI chr 8:77,073,577...77,100,418
Ensembl chr 8:77,074,805...77,100,862

G

integrin subunit alpha 5

mRNA:increased expression:lung

NCBI chr11:50,507,673...50,535,358
Ensembl chr11:50,510,714...50,535,328

G

potassium voltage-gated channel subfamily A member 5

ClinVar Annotator: match by term: Pulmonary arterial hypertension

PMID:23861362 PMID:25741868 PMID:28492532

NCBI chr11:5,085,221...5,088,135
Ensembl chr11:5,085,518...5,087,335

G

potassium two pore domain channel subfamily K member 3

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr14:80,905,168...80,945,972
Ensembl chr14:80,906,608...80,945,806

G

potassium calcium-activated channel subfamily N member 4

ameliorates

NCBI chr 6:37,289,088...37,316,850

G

potassium channel tetramerization domain containing 18

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr10:85,986,243...86,005,518
Ensembl chr10:85,987,397...86,002,429

G

ATP-binding cassette sub-family A member 3

ClinVar Annotator: match by term: Pulmonary arterial hypertension

PMID:15976379 PMID:17597647 PMID:18246475 PMID:18317237 PMID:18603241 More...

NCBI chr 5:2,171,487...2,218,851

G

mismatch repair endonuclease PMS2

ClinVar Annotator: match by term: Pulmonary arterial hypertension

PMID:6144131 PMID:16144131 PMID:16283678 PMID:18602922 PMID:19283792 More...

NCBI chr28:15,174,359...15,209,962
Ensembl chr28:15,172,100...15,209,852

G

mitogen-activated protein kinase kinase kinase 7

treatment

NCBI chr13:15,284,927...15,360,539
Ensembl chr13:15,284,923...15,360,832

G

MAGUK p55 scaffold protein 4

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr10:87,328,555...87,382,894
Ensembl chr10:87,328,962...87,382,232

G

neurobeachin like 1

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr10:88,763,320...88,965,040
Ensembl chr10:88,764,111...88,963,364

G

NADH:ubiquinone oxidoreductase subunit B3

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr10:86,723,212...86,735,837
Ensembl chr10:86,723,253...86,735,980

G

NGG1 interacting factor 3 like 1

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr10:86,545,392...86,593,386
Ensembl chr10:86,545,014...86,564,263

G

nicotinamide N-methyltransferase

protein:increased activity,altered activity:lung, liver (rat)

NCBI chr 1:105,650,178...105,708,441
Ensembl chr 1:105,690,085...105,713,010

G

NOP58 ribonucleoprotein

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr10:87,989,687...88,026,774
Ensembl chr10:87,989,699...88,026,904

G

nitric oxide synthase 3

treatment

NCBI chr21:119,174,829...119,196,840

G

notch receptor 1

ClinVar Annotator: match by term: Pulmonary arterial hypertension

PMID:15472075 PMID:16614245 PMID:18593716 PMID:19245433 PMID:19635999 More...

NCBI chr12:1,656,815...1,707,566
Ensembl chr12:1,656,918...1,709,585

G

notch receptor 3

ClinVar Annotator: match by term: Pulmonary arterial hypertension

PMID:22006983 PMID:22153900 PMID:22159056 PMID:24086431 PMID:25741868 More...

NCBI chr 6:13,762,570...13,803,676
Ensembl chr 6:13,761,512...13,793,359

G

origin recognition complex subunit 2

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr10:86,567,350...86,629,693
Ensembl chr10:86,564,332...86,629,855

G

Parkinsonism associated deglycase

exacerbates

NCBI chr20:123,776,084...123,808,031
Ensembl chr20:123,776,297...123,798,434

G

programmed cell death 4

treatment

NCBI chr 9:103,809,005...103,836,402
Ensembl chr 9:103,813,211...103,836,002

G

PHD finger protein 6

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr X:109,531,700...109,595,136
Ensembl chr X:109,531,726...109,593,854

G

peptidylprolyl isomerase like 3

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr10:86,525,809...86,545,429
Ensembl chr10:86,521,640...86,543,516

G

prostaglandin I2 synthase

treatment
susceptibility

human gene in a rat model
DNA:repeat, SNPs:promoter, intron: , 185C>T, 325C>A ( , rs5582, rs116939356) (human)

PMID:11034952 PMID:17635855 PMID:18612919 PMID:23841984 PMID:24605778

RGD:401901195 RGD:401901264 RGD:401959335 RGD:401959406 RGD:401959742

NCBI chr 2:14,420,318...14,484,667
Ensembl chr 2:14,441,983...14,488,264

G

protein tyrosine phosphatase receptor type D

mRNA:decreased expression:blood, pulmonary artery (human)

NCBI chr12:70,160,253...71,237,292
Ensembl chr12:70,693,214...71,239,437

G

Ras association (RalGDS/AF-6) and pleckstrin homology domains 1

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr10:89,191,220...89,294,746
Ensembl chr10:89,192,772...89,250,757

G

selenoprotein P

associated with systemic scleroderma;protein:decreased expression:serum

NCBI chr 4:41,544,098...41,556,152

G

shugoshin 2

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr10:86,019,474...86,075,905
Ensembl chr10:86,025,030...86,067,458

G

SMAD family member 4

ClinVar Annotator: match by term: Pulmonary arterial hypertension

PMID:25559809 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29684080

NCBI chr18:29,894,157...29,951,445
Ensembl chr18:29,897,621...29,934,478

G

SMAD family member 9

ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease

PMID:25741868 PMID:28492532 PMID:30029678

NCBI chr 3:15,369,119...15,444,599
Ensembl chr 3:15,372,933...15,405,836

G

spermine synthase

protein:increased expression:pulmonary arterial smooth muscle cell

NCBI chr X:20,418,435...20,475,227
Ensembl chr X:20,418,494...20,476,276

G

superoxide dismutase 2

protein:decreased expression:small pulmonary artery
protein:decreased expression:pulmonary artery

NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974

G

superoxide dismutase 3

exacerbates

NCBI chr27:25,554,474...25,559,873
Ensembl chr27:25,555,082...25,555,804

G

SRY-box transcription factor 17

susceptibility
onset

ClinVar Annotator: match by term: Pulmonary arterial hypertension
DNA:SNPs:enhancers: (rs10103692, rs13266183) (human)
DNA:frameshift mutations, missense mutations, SNP:CDS, intron:multiple (human)

PMID:29650961 PMID:30527955

RGD:329853735 RGD:329955464

NCBI chr 8:50,523,816...50,527,360
Ensembl chr 8:50,524,893...50,527,847

G

spermatogenesis associated serine rich 2 like

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr10:85,804,609...85,975,998
Ensembl chr10:85,807,818...85,976,099

G

STE20 related adaptor beta

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr10:87,096,768...87,127,131
Ensembl chr10:87,096,838...87,127,209

G

small ubiquitin like modifier 1

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr10:87,917,324...87,957,152

G

T-box transcription factor 4

ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease

PMID:15106123 PMID:16199547 PMID:23592887 PMID:25741868 PMID:28492532 More...

NCBI chr16:32,677,878...32,715,169
Ensembl chr16:32,683,921...32,711,674

G

transforming growth factor beta receptor 1

mRNA:increased expression:lung

NCBI chr12:40,272,507...40,321,740
Ensembl chr12:40,276,916...40,297,372

G

transmembrane protein 237

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr10:87,307,141...87,326,618
Ensembl chr10:87,307,903...87,327,299

G

TNF receptor superfamily member 12A

mRNA:increased expression:right ventricle

NCBI chr 5:2,763,633...2,765,692
Ensembl chr 5:2,763,714...2,765,137

G

DNA topoisomerase II binding protein 1

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr15:56,679,333...56,740,773
Ensembl chr15:56,679,426...56,741,566

G

trafficking kinesin protein 2

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr10:87,022,038...87,096,685
Ensembl chr10:87,022,043...87,096,666

G

transient receptor potential cation channel subfamily C member 4

ameliorates

NCBI chr 3:16,135,822...16,358,902

G

twist family bHLH transcription factor 1

mRNA, protein:increased expression: pulmonary artery,lung:

NCBI chr21:39,040,178...39,042,384
Ensembl chr21:39,040,547...39,041,146

G

vimentin

protein:increased phosphorylation:lung

NCBI chr 9:17,183,466...17,191,771
Ensembl chr 9:17,183,388...17,191,829

G

WD repeat domain 12

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr10:88,616,540...88,649,743
Ensembl chr10:88,616,797...88,649,418

Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activin A receptor like type 1

ClinVar Annotator: match by term: PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED

PMID:8640225 PMID:9245985 PMID:10187774 PMID:10767348 PMID:11170071 More...

NCBI chr11:48,063,099...48,091,705
Ensembl chr11:48,082,135...48,093,630

G

endoglin

ClinVar Annotator: match by term: PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED

PMID:14684682 PMID:15024723 PMID:15115879 PMID:15687131 PMID:15879500 More...

NCBI chr12:10,274,705...10,315,715
Ensembl chr12:10,275,064...10,315,040

Pulmonary Edema of Mountaineers

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dynamin 1 like

mRNA:increased expression:lung (rat)

NCBI chr11:32,114,642...32,178,330
Ensembl chr11:32,114,675...32,177,661

G

fission, mitochondrial 1

mRNA:increased expression:lung (rat)

NCBI chr28:11,934,848...11,940,230
Ensembl chr28:11,934,821...11,941,901

G

guanylate cyclase 1 soluble subunit alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:102,206,438...102,310,535
Ensembl chr 7:102,238,477...102,303,673

G

heme oxygenase 1

protein:increased expression:lung

NCBI chr19:18,144,466...18,157,944
Ensembl chr19:18,144,545...18,157,971

G

mitofusin 2

mRNA:decreased expression:lung (rat)

NCBI chr20:119,787,700...119,818,455
Ensembl chr20:119,787,370...119,816,693

pulmonary hypertension

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin converting enzyme 2

treatment

CTD Direct Evidence: therapeutic
human protein in a rat model

PMID:25225206 PMID:31931441

NCBI chr X:14,032,231...14,094,163
Ensembl chr X:14,030,233...14,077,785

G

activin A receptor like type 1

disease_progression
susceptibility

DNA:mutations (human)
associated with hereditary haemorrhagic telangiectasia;DNA:missense mutations
mRNA:increased expression:lung
CTD Direct Evidence: marker/mechanism

PMID:14684682 PMID:17392319 PMID:20056902 PMID:26540443

RGD:1601116 RGD:1601117 RGD:5128837

NCBI chr11:48,063,099...48,091,705
Ensembl chr11:48,082,135...48,093,630

G

alcohol dehydrogenase 5 (class III), chi polypeptide

NCBI chr 7:47,190,031...47,211,670
Ensembl chr 7:47,190,294...47,211,651

G

adiponectin, C1Q and collagen domain containing

NCBI chr15:81,128,427...81,142,779
Ensembl chr15:81,129,795...81,147,391

G

adrenomedullin

NCBI chr 1:54,518,359...54,520,683
Ensembl chr 1:54,518,358...54,520,686

G

advanced glycosylation end-product specific receptor

protein:increased expression:lung (human)

NCBI chr17:39,847,343...39,851,288
Ensembl chr17:39,847,759...39,851,127

G

angiotensinogen

NCBI chr25:67,964,840...67,977,006
Ensembl chr25:67,962,401...67,973,324

G

angiotensin II receptor type 1

onset

DNA:polymorphism:3' utr:1166A>C (human)

NCBI chr15:41,957,826...42,002,776

G

aryl hydrocarbon receptor

ameliorates

6-formylindolo[3,2-b]carbazole (FICZ)|semaxanib (CHEBI:91083)
compared to wild type littermates

NCBI chr21:40,778,198...40,826,491
Ensembl chr21:40,778,218...40,826,478

G

5'-aminolevulinate synthase 1

mRNA:increased expression:lung (rat)

NCBI chr22:13,558,011...13,573,740
Ensembl chr22:13,559,180...13,575,869

G

arachidonate 5-lipoxygenase

treatment

CTD Direct Evidence: marker/mechanism
protein:increased expression:artery

PMID:8647941 PMID:9445303 PMID:14726295 PMID:31462075

RGD:14975304 RGD:1626154 RGD:4890418 RGD:734558

NCBI chr 9:41,085,257...41,145,760
Ensembl chr 9:41,085,361...41,145,331

G

arachidonate 5-lipoxygenase activating protein

protein:increased expression:artery

PMID:8647941 PMID:9445303

RGD:1626154 RGD:734558

NCBI chr 3:9,618,030...9,642,990
Ensembl chr 3:9,617,949...9,643,184

G

angiopoietin 1

protein:decreased expression:pulmonary artery

NCBI chr 8:102,020,346...102,268,443

G

angiopoietin 2

protein:increased expression:pulmonary artery (rat)

NCBI chr 8:6,283,619...6,345,320
Ensembl chr 8:6,280,584...6,344,729

G

apelin

protein:decreased expression:plasma

NCBI chr X:104,885,639...104,896,371
Ensembl chr X:104,888,996...104,895,014

G

arginase 2

CTD Direct Evidence: marker/mechanism

NCBI chr24:44,851,139...44,884,118
Ensembl chr24:44,851,175...44,883,853

G

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2

treatment

PMID:23804254 PMID:27144451

RGD:13782086 RGD:13782089

NCBI chr11:105,522,175...105,590,291
Ensembl chr11:105,522,157...105,590,958

G

ATP synthase F1 subunit alpha

treatment

chronic thromboembolic pulmonary hypertension

NCBI chr18:34,815,924...34,828,052
Ensembl chr18:34,816,027...34,830,924

G

ATP synthase peripheral stalk subunit F6

treatment

mRNA, protein:increased expression:lung, plasma (rat)

PMID:27491388 PMID:27916219

RGD:13800892 RGD:13800894

NCBI chr 2:66,539,014...66,550,186
Ensembl chr 2:66,538,864...66,550,046

G

ATPase copper transporting alpha

CTD Direct Evidence: marker/mechanism

NCBI chr X:66,843,519...66,985,655
Ensembl chr X:66,843,558...66,985,709

G

BCL2 apoptosis regulator

protein:decreased expression:heart right ventricle

NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895

G

BCL2 like 1

treatment

NCBI chr 2:36,059,024...36,118,332
Ensembl chr 2:36,058,919...36,116,470

G

bradykinin receptor B2

NCBI chr24:74,084,907...74,125,604
Ensembl chr24:74,118,210...74,122,909

G

baculoviral IAP repeat containing 5

protein:increased expression:pulmonary artery

NCBI chr16:70,226,824...70,237,000

G

bone morphogenetic protein receptor type 1A

NCBI chr 9:44,944,463...45,108,832
Ensembl chr 9:44,941,460...45,027,275

G

bone morphogenetic protein receptor type 1B

G

bone morphogenetic protein receptor type 2

disease_progression
treatment

DNA:missense mutations (human)
ClinVar Annotator: match by term: Pulmonary hypertension

PMID:19785764 PMID:21737550 PMID:25741868

RGD:38500243 RGD:5129239

NCBI chr10:88,103,442...88,302,578
Ensembl chr10:88,106,072...88,303,734

G

bromodomain containing 4

CTD Direct Evidence: therapeutic

NCBI chr 6:13,836,332...13,883,459
Ensembl chr 6:13,836,324...13,873,877

G

carbonic anhydrase 9

CTD Direct Evidence: marker/mechanism

NCBI chr12:44,921,530...44,929,504
Ensembl chr12:44,921,665...44,928,831

G

calcium sensing receptor

protein:increased expression:pulmonary artery (rat)

NCBI chr22:58,579,640...58,612,142
Ensembl chr22:58,578,396...58,604,756

G

caveolin 1

treatment

idiopathic pulmonary arterial hypertension (IPAH)

PMID:15353500 PMID:17470567 PMID:23538027

RGD:1581153 RGD:1625360 RGD:8662276

NCBI chr21:85,222,724...85,258,562
Ensembl chr21:85,222,879...85,258,627

G

caveolae associated protein 1

OMIM:615371

NCBI chr16:63,840,693...63,863,162
Ensembl chr16:63,840,859...63,863,296

G

cerebellin 2 precursor

CTD Direct Evidence: marker/mechanism

NCBI chr18:7,270,551...7,280,233
Ensembl chr18:7,274,754...7,278,714

G

C-C motif chemokine ligand 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:27,868,925...27,890,143

G

C-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism
protein:increased expression:bronchoalveolar lavage fluid (rat)
protein:increased expression:lung, plasma

PMID:9605182 PMID:15302794 PMID:19087668 PMID:30418988

RGD:2307003 RGD:8549547

NCBI chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416

G

C-C motif chemokine ligand 5

protein:increased secretion:serum (human)

NCBI chr16:29,351,214...29,361,317

G

cellular communication network factor 2

protein:increased expression:pulmonary artery (rat)

NCBI chr13:41,613,838...41,617,010
Ensembl chr13:41,613,798...41,617,651

G

CD209 molecule

NCBI chr 6:7,219,576...7,235,755
Ensembl chr 6:7,228,378...7,235,208

G

CD28 molecule

NCBI chr10:89,471,710...89,505,152
Ensembl chr10:89,471,730...89,500,387

G

CD40 molecule

treatment

NCBI chr 2:17,753,713...17,765,134
Ensembl chr 2:17,753,394...17,764,566

G

CD40 ligand

protein:increased expression:serum (rat)
CTD Direct Evidence: marker/mechanism

PMID:15302794 PMID:25998782

NCBI chr X:111,655,301...111,667,602
Ensembl chr X:111,655,397...111,666,639

G

CD86 molecule

protein:decreased expression:blood, myeloid dendritic cell (human)

NCBI chr22:58,741,534...58,805,417
Ensembl chr22:58,741,525...58,805,366

G

cadherin 5

protein:decreased expression:lung

NCBI chr 5:52,059,987...52,098,595
Ensembl chr 5:52,060,013...52,100,405

G

cyclin dependent kinase inhibitor 1A

treatment

PMID:24334871 PMID:24412385

RGD:10043360 RGD:10043361

NCBI chr17:35,445,668...35,454,334
Ensembl chr17:35,445,223...35,454,342

G

cyclin dependent kinase inhibitor 1B

treatment

NCBI chr11:12,612,064...12,617,228
Ensembl chr11:12,612,079...12,617,531

G

clusterin

NCBI chr 8:25,704,441...25,721,789
Ensembl chr 8:25,703,257...25,721,789

G

collagen type I alpha 1 chain

treatment

NCBI chr16:43,134,648...43,152,313
Ensembl chr16:43,134,779...43,150,930

G

collagen type IV alpha 1 chain

treatment

NCBI chr 3:88,410,800...88,564,191
Ensembl chr 3:88,412,168...88,564,057

G

C-reactive protein

associated with Pulmonary Disease, Chronic Obstructive

NCBI chr20:4,232,262...4,235,826
Ensembl chr20:4,232,913...4,235,377

G

colony stimulating factor 3

treatment

PMID:12524378 PMID:17186992

RGD:11039432 RGD:11039539

NCBI chr16:66,162,814...66,166,192
Ensembl chr16:66,163,681...66,165,172

G

catenin delta 1

treatment

NCBI chr 1:15,408,581...15,466,457
Ensembl chr 1:15,411,454...15,466,456

G

C-X3-C motif chemokine receptor 1

associated with Scleroderma, Systemic;DNA:polymorphisms: :p.V249I, p.T280M (human)
mRNA, protein:increased expression:lung

PMID:16584113 PMID:17182651

RGD:4891893 RGD:4891896

NCBI chr15:136,757...153,316
Ensembl chr15:150,718...151,785

G

C-X-C motif chemokine ligand 8

CTD Direct Evidence: marker/mechanism

NCBI chr 7:22,202,497...22,205,730
Ensembl chr 7:22,202,527...22,204,068

G

C-X-C motif chemokine receptor 4

treatment

NCBI chr10:20,336,470...20,340,308
Ensembl chr10:20,336,247...20,340,309

G

cytochrome b-245 beta chain

treatment

associated with Anoxia

PMID:18424632 PMID:18952568

RGD:4762683 RGD:4773907

G

cytochrome P450 family 1 subfamily A member 1

mRNA,protein:increased expression:lung

NCBI chr26:8,753,236...8,759,378
Ensembl chr26:8,753,327...8,759,384

G

cytochrome P450 family 2 subfamily J member 2

NCBI chr20:73,083,312...73,115,174
Ensembl chr20:73,083,389...73,115,077

G

delta like canonical Notch ligand 4

NCBI chr26:42,056,473...42,066,283
Ensembl chr26:42,056,331...42,065,828

G

deoxyhypusine hydroxylase

protein:increased expression:pulmonary artery,right ventricle

NCBI chr 6:3,256,088...3,272,082
Ensembl chr 6:3,256,087...3,265,460

G

endothelin converting enzyme 1

associated with Anoxia;

NCBI chr20:111,212,567...111,342,755
Ensembl chr20:111,212,594...111,342,821

G

endothelin 1

Hypertension, Heritable Pulmonary Artery; mRNA:increased expression:bone marrow, macrophage (mouse)
Hypertension, Portopulmonary; protein:increased secretion:plasma (human)
associated with Pulmonary Disease, Chronic Obstructive; protein:increased secretion:plasma (human)
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:lung (rat)

PMID:7549228 PMID:9918753 PMID:12391278 PMID:20498147 PMID:20562228 More...

RGD:4144128 RGD:4144865 RGD:4144877 RGD:4144882

NCBI chr17:59,854,186...59,861,319
Ensembl chr17:59,853,699...59,861,198

G

endothelin 2

NCBI chr20:91,425,979...91,432,609
Ensembl chr20:91,426,747...91,431,973

G

endothelin receptor type A

PMID:15243299 PMID:18506008 PMID:20531217 PMID:20562228

RGD:1580949 RGD:4144877 RGD:4892283 RGD:4892320

NCBI chr 7:93,980,983...94,043,863
Ensembl chr 7:93,985,797...94,042,296

G

endothelin receptor type B

CTD Direct Evidence: marker/mechanism

PMID:15243299 PMID:15927975 PMID:18091567 PMID:20562228

RGD:1580949 RGD:4144877 RGD:4892289

NCBI chr 3:56,969,493...56,993,719
Ensembl chr 3:56,969,101...56,992,731

G

epidermal growth factor receptor

protein:increased expression:lung, arteriole (human)

PMID:12896876 PMID:21492463

RGD:5131626 RGD:5131639

NCBI chr21:3,664,622...3,853,492
Ensembl chr21:3,666,339...3,853,239

G

early growth response 1

protein:increased expression:lung (human)
mRNA, protein:increased expression:lung (mouse)
mRNA, protein:increased expression:lung (rat)

PMID:18599502 PMID:20023177 PMID:20889906 PMID:21924231

RGD:10395308 RGD:5131875 RGD:5131883 RGD:5131890

NCBI chr23:41,139,636...41,143,598
Ensembl chr23:41,140,065...41,142,374

G

eukaryotic translation initiation factor 2 alpha kinase 4

CTD Direct Evidence: marker/mechanism

NCBI chr26:42,966,095...43,072,083
Ensembl chr26:42,962,447...43,072,001

G

eukaryotic translation initiation factor 5A

protein:increased expression:pulmonary artery,right ventricle

NCBI chr16:6,685,908...6,691,159

G

endoglin

NCBI chr12:10,274,705...10,315,715
Ensembl chr12:10,275,064...10,315,040

G

endothelial PAS domain protein 1

DNA:missense mutation:cds: 2097G>A,p.G537R(human)

PMID:16215633 PMID:18650473

RGD:10395375 RGD:11041573

NCBI chr14:60,823,110...60,912,804
Ensembl chr14:60,822,815...60,912,785

G

epoxide hydrolase 2

NCBI chr 8:25,603,668...25,659,232
Ensembl chr 8:25,603,735...25,659,345

G

erythropoietin

treatment

NCBI chr28:12,487,222...12,491,986
Ensembl chr28:12,489,766...12,491,908

G

estrogen receptor 1

NCBI chr13:79,153,418...79,554,552
Ensembl chr13:79,270,265...79,554,549

G

estrogen receptor 2

NCBI chr24:41,426,333...41,513,802
Ensembl chr24:41,447,224...41,512,486

G

coagulation factor V

Chronic thromboembolic pulmonary hypertension (CTEPH)

NCBI chr25:59,465,610...59,539,022
Ensembl chr25:59,466,378...59,538,872

G

fibulin 5

CTD Direct Evidence: marker/mechanism

NCBI chr24:69,626,498...69,703,146
Ensembl chr24:69,626,339...69,703,108

G

fibroblast growth factor 2

mRNA:increased expression:lung

NCBI chr 7:70,089,394...70,157,423

G

fibroblast growth factor receptor 1

NCBI chr 8:36,426,116...36,485,683
Ensembl chr 8:36,427,110...36,485,508

G

forkhead box O1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:18,916,849...19,027,776
Ensembl chr 3:18,920,651...19,027,707

G

GATA binding protein 4

protein:increased expression:heart right ventricle

NCBI chr 8:7,348,145...7,432,574
Ensembl chr 8:7,349,660...7,400,562

G

GATA binding protein 6

protein:decreased expression:lung, arteriole, venule (human)
mRNA, protein:decreased expression:lung

PMID:19842842 PMID:23583651

RGD:13208869 RGD:2314194

NCBI chr18:58,312,328...58,345,472
Ensembl chr18:58,311,482...58,343,746

G

glucosylceramidase beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:8,598,110...8,631,517
Ensembl chr20:8,598,628...8,630,990

G

growth differentiation factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:44,087,502...44,092,975
Ensembl chr 9:44,089,358...44,092,484

G

gap junction protein alpha 1

treatment

mRNA:increased expression:pulmonary artery

PMID:21414209 PMID:23321332

RGD:7207411 RGD:8662411

NCBI chr13:52,397,291...52,410,341
Ensembl chr13:52,396,109...52,410,339

G

G protein-coupled receptor 182

mRNA:increased expression:lung

NCBI chr11:52,904,691...52,908,786
Ensembl chr11:52,905,582...52,906,796

G

hyaluronan synthase 1

NCBI chr 6:44,540,036...44,552,396
Ensembl chr 6:44,540,363...44,547,711

G

hyaluronan synthase 2

mRNA:increased expression:lung

NCBI chr 8:116,199,516...116,228,705
Ensembl chr 8:116,200,799...116,228,788

G

hyaluronan synthase 3

mRNA:decreased expression:lung

NCBI chr 5:58,289,672...58,306,843
Ensembl chr 5:58,292,044...58,298,524

G

histone deacetylase 1

protein:increased expression:lung:

NCBI chr20:100,529,782...100,575,953
Ensembl chr20:100,530,369...100,558,556

G

histone deacetylase 2

protein:decreased expression:lung:

NCBI chr13:59,873,248...59,904,542
Ensembl chr13:59,873,767...59,905,742

G

histone deacetylase 3

protein:decreased expression:lung:

NCBI chr23:44,246,296...44,263,127

G

histone deacetylase 4

protein:increased expression:lung:

NCBI chr10:125,098,375...125,450,524
Ensembl chr10:125,098,366...125,403,227

G

histone deacetylase 5

protein:increased expression:lung:

NCBI chr16:62,267,837...62,314,914
Ensembl chr16:62,274,041...62,315,094

G

hes related family bHLH transcription factor with YRPW motif 1

mRNA:decreased expression:lung:

NCBI chr 8:75,225,081...75,228,941
Ensembl chr 8:75,224,769...75,228,896

G

hypoxia inducible factor 1 subunit alpha

associated with Anoxia;protein:increased expression:pulmonary artery
CTD Direct Evidence: marker/mechanism

PMID:16215633 PMID:17213961 PMID:20110409

RGD:10395375 RGD:1601553

NCBI chr24:38,873,830...38,927,657
Ensembl chr24:38,873,861...38,928,288

G

hypoxia inducible factor 3 subunit alpha

NCBI chr 6:39,672,580...39,718,944
Ensembl chr 6:39,679,627...39,713,227

G

hexokinase 1

mRNA:increased expression:lung

NCBI chr 9:61,917,501...62,029,737
Ensembl chr 9:61,917,440...62,001,843

G

high mobility group box 1

treatment

NCBI chr 3:9,353,333...9,357,765

G

3-hydroxy-3-methylglutaryl-CoA reductase

NCBI chr 4:69,664,784...69,690,343
Ensembl chr 4:69,665,417...69,688,686

G

heme oxygenase 1

PMID:14970910 PMID:19409105 PMID:20957739

RGD:1582715 RGD:4145307 RGD:4145325

NCBI chr19:18,144,466...18,157,944
Ensembl chr19:18,144,545...18,157,971

G

15-hydroxyprostaglandin dehydrogenase

mRNA, protein:increased expression:lung

NCBI chr 7:120,589,646...120,620,864
Ensembl chr 7:120,588,462...120,621,016

G

5-hydroxytryptamine receptor 1B

ameliorates

NCBI chr13:2,143,646...2,145,943
Ensembl chr13:2,144,313...2,145,485

G

5-hydroxytryptamine receptor 2B

CTD Direct Evidence: marker/mechanism

NCBI chr10:117,132,919...117,152,132
Ensembl chr10:117,133,195...117,149,681

G

hyaluronidase 1

mRNA:decreased expression:lung

NCBI chr22:11,689,123...11,693,144
Ensembl chr22:11,688,970...11,693,183

G

hyaluronidase 2

mRNA:decreased expression:lung

NCBI chr22:11,704,422...11,710,013
Ensembl chr22:11,703,790...11,709,454

G

intercellular adhesion molecule 1

associated with Heart Defects, Congenital;protein:increased secretion:serum (human)

NCBI chr 6:9,320,991...9,338,125
Ensembl chr 6:9,322,550...9,338,263

G

interferon gamma receptor 1

mRNA: increased expression

NCBI chr13:36,203,038...36,224,039
Ensembl chr13:36,203,004...36,222,542

G

interleukin 10

disease_progression

protein:increased expression:serum

NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836

G

interleukin 13

associated with Scleroderma, Limited;protein:increased expression:plasma
associated with sclerosis; protein:increased expression:plasma (human)

PMID:19799786 PMID:21425123

RGD:4145600 RGD:8549528

NCBI chr23:35,475,762...35,479,419
Ensembl chr23:35,476,490...35,478,869

G

interleukin 13 receptor subunit alpha 1

PMID:20671265 PMID:20808962

RGD:4892610 RGD:4892611

G

interleukin 13 receptor subunit alpha 2

mRNA:increased expression:lung

NCBI chr X:102,589,947...102,628,853
Ensembl chr X:102,590,045...102,603,260

G

interleukin 18

NCBI chr 1:103,485,868...103,511,632
Ensembl chr 1:103,482,083...103,510,150

G

interleukin 1 beta

protein:increased expression:serum
associated with Scleroderma, Limited;protein:increased expression:serum

PMID:20713898 PMID:20808962

RGD:4142530 RGD:4892610

NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729

G

interleukin 1 receptor antagonist

NCBI chr14:16,136,667...16,152,451
Ensembl chr14:16,146,333...16,151,326

G

interleukin 23 receptor

associated with Scleroderma, Systemic;DNA:SNPs: :rs11209026, rs11465804 (human)

NCBI chr20:65,853,379...65,946,000
Ensembl chr20:65,854,349...65,938,024

G

interleukin 4

NCBI chr23:35,492,158...35,501,349
Ensembl chr23:35,492,939...35,501,258

G

interleukin 6

ameliorates
disease_progression

PMID:20693255 PMID:20713898 PMID:38602915

RGD:407450417 RGD:4142530 RGD:4143246

NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237

G

potassium voltage-gated channel subfamily A member 5

CTD Direct Evidence: marker/mechanism
DNA:SNPs:promoter, cds

PMID:17267549 PMID:17596340 PMID:20303989 PMID:27522126

RGD:1627651 RGD:1627654 RGD:7242752

NCBI chr11:5,085,221...5,088,135
Ensembl chr11:5,085,518...5,087,335

G

potassium two pore domain channel subfamily K member 3

severity

CTD Direct Evidence: marker/mechanism

PMID:30365877 PMID:31347976

NCBI chr14:80,905,168...80,945,972
Ensembl chr14:80,906,608...80,945,806

G

potassium calcium-activated channel subfamily M alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:53,727,790...54,557,252
Ensembl chr 9:54,182,910...54,554,716

G

lysine demethylase 5B

associated with Hypoxia;protein:increased expression:pulmonary artery,smooth muscle tissue (mouse)

NCBI chr25:26,599,740...26,685,256
Ensembl chr25:26,600,736...26,683,632

G

lipocalin 2

mRNA,protein:increased expression:lung
associated with congenital heart disease; protein:increased expression:plasma

NCBI chr12:9,976,278...9,981,087
Ensembl chr12:9,976,614...9,980,870

G

leptin receptor

CTD Direct Evidence: marker/mechanism

NCBI chr20:67,454,205...67,567,524
Ensembl chr20:67,454,334...67,524,229

G

ATP-binding cassette sub-family A member 3

CTD Direct Evidence: marker/mechanism

NCBI chr 5:2,171,487...2,218,851

G

cysteinyl leukotriene receptor 1

associated with Anoxia

NCBI chr X:67,218,777...67,300,655
Ensembl chr X:67,220,048...67,221,061

G

fractalkine

protein:increased expression:lung
mRNA, protein:increased expression:lung
associated with Heart Defects, Congenital

PMID:18630689 PMID:19948918 PMID:20869263

RGD:4891883 RGD:4891887 RGD:4891889

NCBI chr 5:43,310,711...43,323,533
Ensembl chr 5:43,310,753...43,323,529

G

cytochrome b-245 light chain

associated with Anoxia;mRNA, protein:increased expression:lung

PMID:18424632 PMID:18952568

RGD:4762683 RGD:4773907

NCBI chr 5:74,023,134...74,030,793
Ensembl chr 5:74,023,082...74,030,750

G

calcitonin

CTD Direct Evidence: therapeutic

NCBI chr 1:49,946,574...49,956,010
Ensembl chr 1:49,951,694...49,954,092

G

DNA-binding protein inhibitor ID-1

NCBI chr 2:36,008,660...36,009,880
Ensembl chr 2:36,008,636...36,010,017

G

lysyl oxidase

CTD Direct Evidence: marker/mechanism

NCBI chr23:25,158,458...25,172,763
Ensembl chr23:25,157,269...25,172,757

G

mitogen-activated protein kinase 1

treatment

NCBI chr19:4,246,144...4,352,648
Ensembl chr19:4,246,122...4,353,325

G

mitogen-activated protein kinase 3

treatment

NCBI chr 5:26,536,471...26,545,666
Ensembl chr 5:26,536,532...26,546,461

G

myoglobin

disease_progression

NCBI chr19:18,369,234...18,385,922
Ensembl chr19:18,369,174...18,380,270

G

mitofusin 1

protein:decreased expression:heart right ventricle (rat)

NCBI chr15:10,050,616...10,093,118
Ensembl chr15:10,047,599...10,093,126

G

macrophage migration inhibitory factor

associated with sclerodema, systemic; protein:increased expression:serum

NCBI chr19:7,000,837...7,001,700
Ensembl chr19:7,000,793...7,001,757

G

matrix metallopeptidase 1

NCBI chr 1:94,167,507...94,177,357
Ensembl chr 1:94,167,219...94,176,767

G

matrix metallopeptidase 9

severity

associated with Heart Failure, Congestive;protein:decreased expression:monocyte
associated with Pulmonary Embolism;protein:increased expression:lung, plasma

PMID:16867026 PMID:17133179 PMID:18355767 PMID:21063214 PMID:23087098

RGD:1642028 RGD:1642053 RGD:5129210 RGD:5130155 RGD:7207217

NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712

G

mechanistic target of rapamycin kinase

NCBI chr20:120,522,667...120,678,988
Ensembl chr20:120,525,737...120,679,020

G

MYC proto-oncogene, bHLH transcription factor

treatment

NCBI chr 8:122,282,989...122,288,392
Ensembl chr 8:122,282,630...122,288,384

G

nicotinamide phosphoribosyltransferase

susceptibility

protein:increased expression:lung:
mRNA,protein:increased expression:lung,pulmonary arterial endothelial cell:

NCBI chr21:75,160,748...75,195,781
Ensembl chr21:75,158,596...75,196,025

G

nuclear factor of activated T cells 2

CTD Direct Evidence: marker/mechanism

PMID:17596340 PMID:27522126

NCBI chr 2:12,412,935...12,585,275
Ensembl chr 2:12,430,744...12,540,131

G

nitric oxide synthase 2

onset

associated with Anoxia; protein:increased expression:pulmonary artery
associated with heart disease; protein:increased expression:endothelial cell
associated with Anoxia; mouse gene in rat model
associated with Scleroderma, Systemic; DNA:repeats, SNPs:promoter:(CCTTT), c.-1026C>T, c.-277A>G (human)
associated with Congenital diaphragmatic hernia; protein:decreased expression:pulmonary artery, endothelium

PMID:11104748 PMID:16113050 PMID:16456243 PMID:16813666 PMID:19912632

RGD:1580936 RGD:1580940 RGD:4891462 RGD:4891468 RGD:5132602

NCBI chr16:21,533,011...21,576,645
Ensembl chr16:21,533,484...21,574,257

G

nitric oxide synthase 3

treatment
susceptibility

mRNA, protein:increased expression:pulmonary endothelial cell
DNA:polymorphism:cds:p.E298D (human)
RNA:increased expression:lung
associated with heart disease; protein:increased expression:endothelial cell
CTD Direct Evidence: marker/mechanism
protein:increased expression:arteriole
associated with Beta-Thalassemia;DNA:repeats:intron:
associated with chronic obstructive pulmonary disease; DNA:polymorphism:cds:p.G894T (human)

PMID:11686901 PMID:17065228 PMID:18953956 PMID:19487814 PMID:19912632 More...

RGD:11533642 RGD:13504742 RGD:4892004 RGD:4892009 RGD:4892010 RGD:4892038 RGD:4892039 RGD:4892042 RGD:4892043 RGD:5132602 RGD:5132631

NCBI chr21:119,174,829...119,196,840

G

notch receptor 1

ameliorates

NCBI chr12:1,656,815...1,707,566
Ensembl chr12:1,656,918...1,709,585

G

NADPH oxidase 1

treatment
ameliorates

mRNA,protein:increased expression:lung

PMID:23706097 PMID:24233492 PMID:27401289

RGD:329955359 RGD:329955361 RGD:329955579

NCBI chr X:89,182,636...89,210,176
Ensembl chr X:89,183,264...89,209,298

G

NADPH oxidase 4

associated with Anoxia;mRNA, protein:increased expression:lung

NCBI chr 1:80,470,418...80,642,513
Ensembl chr 1:80,470,826...80,642,722

G

natriuretic peptide A

NCBI chr20:119,942,412...119,946,211
Ensembl chr20:119,944,532...119,945,917

G

natriuretic peptide B

severity

protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism

PMID:16893710 PMID:16936438 PMID:20408845 PMID:21351102

RGD:1642203 RGD:1642205

NCBI chr20:119,930,931...119,933,391
Ensembl chr20:119,932,021...119,933,197

G

phosphodiesterase 3A

mRNA:increased expression:pulmonary artery

NCBI chr11:20,235,814...20,545,740
Ensembl chr11:20,236,430...20,540,900

G

phosphodiesterase 5A

NCBI chr 7:66,826,316...66,955,220
Ensembl chr 7:66,826,315...66,955,036

G

platelet derived growth factor subunit A

NCBI chr28:21,044,549...21,068,411
Ensembl chr28:21,047,219...21,069,827

G

platelet derived growth factor subunit B

PMID:8447423 PMID:21819559 PMID:22523431

RGD:1580847 RGD:6482831 RGD:6482859

NCBI chr19:21,865,792...21,888,068
Ensembl chr19:21,863,768...21,886,395

G

protein disulfide isomerase family A member 3

protein:increased expression:lung:

NCBI chr26:39,273,982...39,300,170
Ensembl chr26:39,272,997...39,349,966

G

platelet and endothelial cell adhesion molecule 1

treatment

NCBI chr16:56,863,763...56,947,479
Ensembl chr16:56,880,934...56,950,999

G

placental growth factor

associated with Anemia, Sickle Cell;protein:increased expression:plasma
associated with Heart Defects, Congenital

PMID:20040765 PMID:20195855

RGD:6483588 RGD:6483610

NCBI chr24:52,160,904...52,174,493
Ensembl chr24:52,161,787...52,173,989

G

protein kinase cGMP-dependent 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:78,858,269...80,188,163

G

prostaglandin I2 synthase

susceptibility
treatment

rat gene in a mouse model
protein:decreased expression:pulmonary artery (human)
human gene in a rat model

PMID:10359560 PMID:12019369 PMID:15684702 PMID:32673988

RGD:1580695 RGD:401959405 RGD:401960100 RGD:727270

NCBI chr 2:14,420,318...14,484,667
Ensembl chr 2:14,441,983...14,488,264

G

prostaglandin-endoperoxide synthase 2

anoxia associated;

PMID:18542928 PMID:19577709

RGD:2300276 RGD:5135495

NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429

G

protein tyrosine kinase 2

NCBI chr 8:134,897,511...135,246,300

G

receptor activity modifying protein 2

mRNA:increased expression:heart right ventricle

NCBI chr16:63,526,915...63,529,697
Ensembl chr16:63,526,305...63,528,767

G

RELA proto-oncogene, NF-kB subunit

protein:altered localization:nucleus, blood vessel endothelial cell, lung
associated with Hypoxia;protein:increased expression:pulmonary artery,smooth muscle tissue (mouse)

PMID:17934115 PMID:30172777

RGD:2298843 RGD:329955443

NCBI chr 1:8,576,059...8,585,561
Ensembl chr 1:8,576,542...8,586,516

G

ras homolog family member A

protein:altered localization:membrane, artery, lung
protein:altered localization:pulmonary artery

PMID:16322374 PMID:18091588

RGD:1642819 RGD:2298877

NCBI chr22:10,757,381...10,809,257
Ensembl chr22:10,757,337...10,772,704

G

ryanodine receptor 1

protein:altered localization: :

NCBI chr 6:33,080,443...33,234,478
Ensembl chr 6:33,080,758...33,213,788

G

ryanodine receptor 2

protein:increased expression:pulmonary artery

NCBI chr25:74,169,024...74,951,371
Ensembl chr25:74,389,122...74,953,451

G

serpin family A member 1

protein:decreased expression:serum

PMID:1836309 PMID:17444595

RGD:1643144 RGD:1643154

NCBI chr24:72,158,521...72,171,139
Ensembl chr24:72,156,784...72,163,500

G

serpin family E member 1

treatment

mRNA, protein:decreased expression:lung
DNA:polymorphism:3'utr

PMID:18337154 PMID:20300292 PMID:27115515

RGD:11073610 RGD:4143527 RGD:4143529

NCBI chr28:12,047,520...12,060,662
Ensembl chr28:12,047,529...12,060,202

G

solute carrier family 1 member 5

protein:increased expression:myocytes plasma membrane, right ventricle

NCBI chr 6:40,139,417...40,150,312

G

solute carrier family 2 member 4

NCBI chr16:6,654,626...6,660,640
Ensembl chr16:6,654,608...6,661,495

G

solute carrier family 31 member 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:26,307,308...26,348,701
Ensembl chr12:26,311,334...26,348,694

G

solute carrier family 6 member 4

no_association
severity
onset

CTD Direct Evidence: marker/mechanism
DNA:polymorphism, repeat:promoter, intron (human)
associated with Pulmonary Disease, Chronic Obstructive;DNA:polymorphism (human)
associated with Anoxia
DNA:repeat:promoter (human)
associated with Heart Septal Defects, Ventricular;DNA:polymorphisms (human)

PMID:11259539 PMID:16339917 PMID:16399993 PMID:18074800 PMID:18506000 More...

RGD:4889430 RGD:4889432 RGD:4889434 RGD:4889435 RGD:4889437 RGD:4889440 RGD:4889442 RGD:4889445

NCBI chr16:23,929,196...23,969,665
Ensembl chr16:23,927,311...23,955,616

G

solute carrier family 8 member A1

protein:increased expression:pulmonary artery, smooth muscle cell

NCBI chr14:66,813,523...67,210,261

G

SMAD family member 1

protein:decreased expression, increased phosphorylation:lung
protein:decreased phosphorylation:lung, vascular associated smooth muscle cell

PMID:17347486 PMID:18367643

RGD:12903274 RGD:1643222

NCBI chr 7:92,047,273...92,123,451
Ensembl chr 7:92,079,914...92,123,429

G

SMAD family member 4

PMID:17347486 PMID:18367643

RGD:12903274 RGD:1643222

NCBI chr18:29,894,157...29,951,445
Ensembl chr18:29,897,621...29,934,478

G

SMAD family member 6

mRNA:decreased expression:lung

NCBI chr26:16,760,117...16,841,286
Ensembl chr26:16,759,260...16,840,240

G

SMAD family member 7

NCBI chr18:31,993,543...32,024,088
Ensembl chr18:31,993,681...32,024,850

G

SMAD family member 9

NCBI chr 3:15,369,119...15,444,599
Ensembl chr 3:15,372,933...15,405,836

G

sphingomyelin phosphodiesterase 3

treatment

NCBI chr 5:58,965,965...59,057,823
Ensembl chr 5:59,029,093...59,059,577

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974

G

SRY-box transcription factor 17

protein:decreased expression:lung (rat)

NCBI chr 8:50,523,816...50,527,360
Ensembl chr 8:50,524,893...50,527,847

G

signal transducer and activator of transcription 3

severity

protein:increased phosphorylation:lung

NCBI chr16:63,877,884...63,957,894
Ensembl chr16:63,922,862...63,957,984

G

tachykinin precursor 1

NCBI chr21:51,339,085...51,347,561
Ensembl chr21:51,339,095...51,347,550

G

tachykinin receptor 1

NCBI chr14:32,080,319...32,236,556
Ensembl chr14:32,083,615...32,233,596

G

tachykinin receptor 2

NCBI chr 9:61,902,565...61,915,402
Ensembl chr 9:61,903,477...61,914,558

G

telomerase reverse transcriptase

treatment

NCBI chr 4:1,082,894...1,119,373
Ensembl chr 4:1,083,384...1,117,468

G

transforming growth factor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr14:36,545,641...36,654,213
Ensembl chr14:36,545,875...36,648,237

G

transforming growth factor beta 1

onset

DNA:SNPs: :multiple (human)
protein:increased expression:blood

PMID:18496036 PMID:19324949

RGD:4145138 RGD:4145273

NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365

G

transforming growth factor beta receptor 1

NCBI chr12:40,272,507...40,321,740
Ensembl chr12:40,276,916...40,297,372

G

transforming growth factor beta receptor 2

mRNA:decreased expression:lung

NCBI chr15:75,112,903...75,200,263
Ensembl chr15:75,112,561...75,197,711

G

thrombomodulin

associated with Mixed Connective Tissue Disease

NCBI chr 2:52,041,950...52,045,946
Ensembl chr 2:52,043,746...52,045,626

G

thrombopoietin

protein:increased expression:pulmonary artery, plasma

NCBI chr15:5,040,684...5,048,387

G

toll like receptor 4

associated with anoxia

NCBI chr12:21,873,762...21,885,562
Ensembl chr12:21,871,773...21,885,515

G

tenascin C

severity

protein:increased expression:plasma

PMID:15879421 PMID:16782755 PMID:19288153 PMID:20528622

RGD:4889562 RGD:4889564 RGD:4889567 RGD:4889570

NCBI chr12:24,457,616...24,556,194
Ensembl chr12:24,457,738...24,556,451

G

tumor necrosis factor

CTD Direct Evidence: therapeutic
associated with pulmonary disease, chronic obstructive; protein:increased expression:serum
associated with Pulmonary Edema; protein:increased expression:Bronchoalveolar Lavage Fluid

PMID:2518282 PMID:9628235 PMID:12391106 PMID:16899829

RGD:4142833 RGD:4143280 RGD:4143422

G

tumor protein p53

treatment

NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223

G

tumor protein p53 binding protein 1

protein:increased expression:lung

NCBI chr26:39,489,925...39,595,096
Ensembl chr26:39,508,600...39,594,927

G

tryptophan hydroxylase 1

severity

CTD Direct Evidence: marker/mechanism

PMID:17675372 PMID:18506000

NCBI chr 1:46,921,682...46,947,906

G

tryptophan hydroxylase 2

severity

DNA:SNP: :1473C>G (mouse)

NCBI chr11:67,568,744...67,664,911

G

transient receptor potential cation channel subfamily C member 3

NCBI chr 7:69,160,569...69,233,322
Ensembl chr 7:69,158,867...69,231,858

G

transient receptor potential cation channel subfamily C member 6

NCBI chr 1:92,828,546...92,970,224
Ensembl chr 1:92,829,253...92,885,086

G

transient receptor potential cation channel subfamily V member 4

protein:increased expression:pulmonary artery

NCBI chr11:105,020,972...105,072,660

G

twist family bHLH transcription factor 1

treatment

NCBI chr21:39,040,178...39,042,384
Ensembl chr21:39,040,547...39,041,146

G

urotensin 2

NCBI chr20:123,903,137...123,910,180

G

vascular cell adhesion molecule 1

protein:increased expression:blood vessel endothelium

NCBI chr20:32,616,425...32,635,903
Ensembl chr20:32,615,333...32,635,862

G

vascular endothelial growth factor A

associated with Hypoxia;protein:increased expression:pulmonary artery,smooth muscle tissue (mouse)

NCBI chr17:28,377,959...28,394,508

G

vascular endothelial growth factor B

NCBI chr 1:9,997,820...10,001,518
Ensembl chr 1:9,997,665...10,001,429

G

vimentin

protein:increased expression, increased phosphorylation:lung

NCBI chr 9:17,183,466...17,191,771
Ensembl chr 9:17,183,388...17,191,829

G

vasoactive intestinal peptide

NCBI chr13:80,217,602...80,228,320
Ensembl chr13:80,218,572...80,228,278

G

von Willebrand factor

NCBI chr11:5,994,499...6,176,949
Ensembl chr11:5,994,039...6,162,260

Pulmonary Hypertension, Chronic Thromboembolic, without Deep Vein Thrombosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

major histocompatibility complex, class II, DP beta 1

susceptibility

DNA:polymorphisms:cds:HLA-DPB1*0202 (human)

NCBI chr17:38,996,329...39,007,097

Pulmonary Hypertension, Hypoxia-Induced

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aryl hydrocarbon receptor

treatment

NCBI chr21:40,778,198...40,826,491
Ensembl chr21:40,778,218...40,826,478

G

cytochrome P450 family 1 subfamily A member 1

mRNA:increased expression:lung (rat)

NCBI chr26:8,753,236...8,759,378
Ensembl chr26:8,753,327...8,759,384

G

epidermal growth factor receptor

treatment

NCBI chr21:3,664,622...3,853,492
Ensembl chr21:3,666,339...3,853,239

G

egl-9 family hypoxia inducible factor 1

NCBI chr25:68,624,754...68,685,961
Ensembl chr25:68,625,260...68,682,804

G

glucose-6-phosphate dehydrogenase

treatment

NCBI chr X:128,768,028...128,788,366
Ensembl chr X:128,770,268...128,786,961

G

glutamic-oxaloacetic transaminase 1

mRNA:decreased expression:lung (rat)

NCBI chr 9:92,463,017...92,489,227
Ensembl chr 9:92,462,782...92,488,310

G

glutamic-oxaloacetic transaminase 2

mRNA:decreased expression:lung (rat)

NCBI chr 5:44,645,721...44,670,917
Ensembl chr 5:44,645,602...44,670,918

G

15-hydroxyprostaglandin dehydrogenase

mRNA, protein:increased expression:lung

NCBI chr 7:120,589,646...120,620,864
Ensembl chr 7:120,588,462...120,621,016

G

interleukin 6

ameliorates

NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237

G

mitofusin 2

mRNA, protein:decreased expression:lung (rat)

NCBI chr20:119,787,700...119,818,455
Ensembl chr20:119,787,370...119,816,693

G

noggin

mRNA,protein:decreased expression:lung:

NCBI chr16:36,816,783...36,818,693
Ensembl chr16:36,817,476...36,818,174

G

nitric oxide synthase 3

mRNA,protein:increased expression:pulmonary artery

NCBI chr21:119,174,829...119,196,840

G

proliferating cell nuclear antigen

protein:increased expression:lung (rat)

NCBI chr 2:32,936,600...32,953,635
Ensembl chr 2:32,948,196...32,953,991

G

prostaglandin I2 synthase

treatment

NCBI chr 2:14,420,318...14,484,667
Ensembl chr 2:14,441,983...14,488,264

G

protein tyrosine phosphatase receptor type D

mRNA, protein:decreased expression:pulmonary artery (rat)

NCBI chr12:70,160,253...71,237,292
Ensembl chr12:70,693,214...71,239,437

G

solute carrier family 39 member 12

severity

NCBI chr 9:17,887,821...17,970,593
Ensembl chr 9:17,888,748...17,970,580

G

SRY-box transcription factor 17

exacerbates

protein:decreased expression:pulmonary artery endothelium (mouse)

PMID:36205124 PMID:36913491 PMID:36919784 PMID:37066790

RGD:329853316 RGD:329853317 RGD:329853734 RGD:329853737

NCBI chr 8:50,523,816...50,527,360
Ensembl chr 8:50,524,893...50,527,847

G

signal transducer and activator of transcription 3

protein:increased phosphorylation:lung

NCBI chr16:63,877,884...63,957,894
Ensembl chr16:63,922,862...63,957,984

pulmonary venoocclusive disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activating transcription factor 4

protein:increased expression:lung

NCBI chr19:22,092,046...22,094,184
Ensembl chr19:22,091,667...22,095,230

G

bone morphogenetic protein receptor type 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:88,103,442...88,302,578
Ensembl chr10:88,106,072...88,303,734

G

DNA damage inducible transcript 3

protein:increased expression:lung, endothelial cell

NCBI chr11:53,424,693...53,429,094
Ensembl chr11:53,424,868...53,425,576

G

eukaryotic translation initiation factor 2 alpha kinase 2

protein:increased expression:lung

NCBI chr14:70,246,081...70,290,851
Ensembl chr14:70,247,168...70,296,463

G

eukaryotic translation initiation factor 2 alpha kinase 3

protein:increased expression:lung

NCBI chr14:18,135,973...18,209,471
Ensembl chr14:18,136,291...18,209,457

G

eukaryotic translation initiation factor 2 alpha kinase 4

disease_progression

protein:decreased expression:lung
CTD Direct Evidence: marker/mechanism

PMID:24292273 PMID:32209028

NCBI chr26:42,966,095...43,072,083
Ensembl chr26:42,962,447...43,072,001

G

ETS transcription factor ERG

protein:decreased expression:lung

NCBI chr 2:82,327,088...82,611,341
Ensembl chr 2:82,326,767...82,447,228

G

heme oxygenase 1

protein:increased expression:lung
protein:increased expression:lung, endothelial cell

NCBI chr19:18,144,466...18,157,944
Ensembl chr19:18,144,545...18,157,971

G

potassium two pore domain channel subfamily K member 3

NCBI chr14:80,905,168...80,945,972
Ensembl chr14:80,906,608...80,945,806

pulmonary venoocclusive disease 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein receptor type 2

ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1

PMID:3291115 PMID:10903931 PMID:11115378 PMID:12045205 PMID:12446270 More...

NCBI chr10:88,103,442...88,302,578
Ensembl chr10:88,106,072...88,303,734

G

eukaryotic translation initiation factor 2 alpha kinase 4

ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1

NCBI chr26:42,966,095...43,072,083
Ensembl chr26:42,962,447...43,072,001

pulmonary venoocclusive disease 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein receptor type 2

ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis

PMID:18626305 PMID:24292273

NCBI chr10:88,103,442...88,302,578
Ensembl chr10:88,106,072...88,303,734

G

eukaryotic translation initiation factor 2 alpha kinase 4

ClinVar Annotator: match by term: EIF2AK4-related condition | ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis

PMID:12215525 PMID:24033266 PMID:24135949 PMID:24292273 PMID:24310610 More...

NCBI chr26:42,966,095...43,072,083
Ensembl chr26:42,962,447...43,072,001

renal hypertension

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensinogen

CTD Direct Evidence: marker/mechanism

NCBI chr25:67,964,840...67,977,006
Ensembl chr25:67,962,401...67,973,324

G

angiotensin II receptor type 1

mRNA:decreased expression:kidney:

NCBI chr15:41,957,826...42,002,776

G

cyclin dependent kinase inhibitor 1A

protein:decreased expression:vascular associated smooth muscle cell

NCBI chr17:35,445,668...35,454,334
Ensembl chr17:35,445,223...35,454,342

G

C-reactive protein

protein:increased expression:serum

NCBI chr20:4,232,262...4,235,826
Ensembl chr20:4,232,913...4,235,377

G

cytochrome P450 family 2 subfamily C member 8

NCBI chr 9:88,154,131...88,183,915
Ensembl chr 9:88,154,134...88,183,458

G

cytochrome P450 family 2 subfamily J member 2

protein:increased expression:kidney

PMID:10779386 PMID:20495177

RGD:1625381 RGD:7243143

NCBI chr20:73,083,312...73,115,174
Ensembl chr20:73,083,389...73,115,077

G

heme oxygenase 1

NCBI chr19:18,144,466...18,157,944
Ensembl chr19:18,144,545...18,157,971

G

heat shock protein family A (Hsp70) member 8

DNA: snp: 5'utr: -110A>C Associated with chronic kidney disease

NCBI chr 1:114,447,348...114,452,693
Ensembl chr 1:114,446,544...114,451,562

G

interleukin 6

protein:increased expression:serum

NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237

G

matrix metallopeptidase 2

NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004

G

matrix metallopeptidase 7

protein:increased expression:kidney medulla

NCBI chr 1:93,889,189...93,901,077
Ensembl chr 1:93,889,198...93,899,587

G

matrix metallopeptidase 9

NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712

G

myosin heavy chain 9

CTD Direct Evidence: marker/mechanism

NCBI chr19:18,985,709...19,093,304
Ensembl chr19:18,986,598...19,052,671

G

nitric oxide synthase 2

NCBI chr16:21,533,011...21,576,645
Ensembl chr16:21,533,484...21,574,257

G

nitric oxide synthase 3

NCBI chr21:119,174,829...119,196,840

G

natriuretic peptide A

CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma:
associated with Hypertension;protein:increased expression:plasma

PMID:8763405 PMID:12697975 PMID:15241786 PMID:20139323

RGD:7248593 RGD:7248617 RGD:7248660

NCBI chr20:119,942,412...119,946,211
Ensembl chr20:119,944,532...119,945,917

G

natriuretic peptide B

protein:increased expression:serum
protein:increased expression:plasma:
associated with Hypertension;protein:increased expression:plasma

PMID:12697975 PMID:20139323 PMID:22188107

RGD:6907405 RGD:7248593 RGD:7248660

NCBI chr20:119,930,931...119,933,391
Ensembl chr20:119,932,021...119,933,197

G

TIMP metallopeptidase inhibitor 4

protein:increased expression:kidney medulla

NCBI chr22:48,134,133...48,140,870
Ensembl chr22:48,134,637...48,140,600

G

tumor necrosis factor

protein:increased expression:serum

Renoprival Hypertension

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

catalase

NCBI chr 1:30,792,533...30,828,920
Ensembl chr 1:30,792,399...30,829,592

renovascular hypertension

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adrenomedullin

protein:increased expression:plasma

NCBI chr 1:54,518,359...54,520,683
Ensembl chr 1:54,518,358...54,520,686

G

adrenoceptor beta 1

PMID:15592645 PMID:17278011

RGD:7241568 RGD:7241580

NCBI chr 9:106,920,520...106,923,424
Ensembl chr 9:106,920,610...106,922,058

G

angiotensin II receptor type 1

mRNA:decreased expression:kidney:

PMID:9644212 PMID:16796846 PMID:21326341

RGD:10047119 RGD:5129177 RGD:5147455

NCBI chr15:41,957,826...42,002,776

G

angiotensin II receptor type 2

PMID:18158356 PMID:21189405

RGD:6903867 RGD:6903868

G

arginine vasopressin receptor 1A

mRNA:altered expression:brain

NCBI chr11:59,074,699...59,079,710
Ensembl chr11:59,071,202...59,079,596

G

calcium/calmodulin dependent protein kinase II delta

treatment

NCBI chr 7:61,240,584...61,552,562

G

cyclin D2

protein:increased expression:left ventricle:

NCBI chr11:4,307,419...4,339,003
Ensembl chr11:4,307,401...4,333,661

G

chymase 1

protein:increased activity:kidney (rat)

NCBI chr24:1,471,767...1,475,062
Ensembl chr24:1,471,725...1,474,692

G

C-X-C motif chemokine ligand 10

NCBI chr 7:24,526,657...24,529,193
Ensembl chr 7:24,526,680...24,529,130

G

C-X-C motif chemokine receptor 3

NCBI chr X:61,430,723...61,433,777
Ensembl chr X:61,430,725...61,433,386

G

dual specificity tyrosine phosphorylation regulated kinase 1A

treatment

NCBI chr 2:81,318,509...81,467,227
Ensembl chr 2:81,425,902...81,467,677

G

eukaryotic translation initiation factor 4 gamma 2

mRNA:increased expression:heart left ventricle

NCBI chr 1:54,017,587...54,029,491
Ensembl chr 1:54,017,696...54,028,843

G

fibronectin 1

NCBI chr10:101,177,867...101,254,613
Ensembl chr10:101,176,789...101,254,633

G

glucose-6-phosphate dehydrogenase

treatment

NCBI chr X:128,768,028...128,788,366
Ensembl chr X:128,770,268...128,786,961

G

gap junction protein alpha 1

NCBI chr13:52,397,291...52,410,341
Ensembl chr13:52,396,109...52,410,339

G

gap junction protein alpha 5

G

hepatitis A virus cellular receptor 1

protein:increased expression:urine:

NCBI chr23:59,422,769...59,454,183
Ensembl chr23:59,423,334...59,453,531

G

histone deacetylase 8

treatment

NCBI chr X:62,154,374...62,393,149
Ensembl chr X:62,154,365...62,393,196

G

laminin subunit alpha 2

mRNA:decreased expression:heart

NCBI chr13:44,074,128...44,688,187
Ensembl chr13:44,073,525...44,531,889

G

lipocalin 2

protein:increased expression:urine,plasma

NCBI chr12:9,976,278...9,981,087
Ensembl chr12:9,976,614...9,980,870

G

sodium/hydrogen exchanger 3

treatment

NCBI chr 4:362,417...408,113
Ensembl chr 4:365,135...408,033

G

myeloperoxidase

protein:increased activity:heart, brain, kidney

NCBI chr16:35,120,194...35,130,851
Ensembl chr16:35,120,581...35,130,671

G

nitric oxide synthase 1

NCBI chr11:112,642,374...112,673,882

G

nitric oxide synthase 3

CTD Direct Evidence: therapeutic

NCBI chr21:119,174,829...119,196,840

G

platelet derived growth factor subunit A

mRNA:increased expression:vascular associated smooth muscle cell

NCBI chr28:21,044,549...21,068,411
Ensembl chr28:21,047,219...21,069,827

G

prolactin

protein:increased expression:plasma

NCBI chr17:49,922,750...49,938,084
Ensembl chr17:49,928,321...49,938,631

G

prostaglandin E receptor 3

protein:increased expression:kidney (rat)

NCBI chr20:62,093,830...62,293,360
Ensembl chr20:62,095,458...62,174,959

G

prostaglandin-endoperoxide synthase 1

NCBI chr12:17,195,403...17,218,450
Ensembl chr12:17,192,628...17,218,315

G

RELA proto-oncogene, NF-kB subunit

protein:increased expression:nucleus, kidney

NCBI chr 1:8,576,059...8,585,561
Ensembl chr 1:8,576,542...8,586,516

G

renin

protein:increased activity:blood plasma (human)
mRNA:increased expression:renal cortex (mouse)

PMID:2240003 PMID:22378822

RGD:125097504 RGD:6892688

NCBI chr25:25,159,816...25,193,620
Ensembl chr25:25,183,037...25,193,420

G

solute carrier family 9 member A1

treatment

NCBI chr20:105,613,289...105,670,868
Ensembl chr20:105,613,338...105,674,208

G

secreted phosphoprotein 1

NCBI chr 7:36,337,165...36,344,927
Ensembl chr 7:36,338,386...36,344,407

G

serine and arginine rich splicing factor 1

treatment

NCBI chr16:35,392,573...35,396,815
Ensembl chr16:35,392,873...35,394,982

severe pre-eclampsia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activin A receptor type 1

severity

mRNA:increased expression:decidua basalis (human)

NCBI chr10:43,139,396...43,281,024
Ensembl chr10:43,139,528...43,281,177

G

apurinic/apyrimidinic endodeoxyribonuclease 1

susceptibility

DNA:polymorphism::p.D148E (human)

NCBI chr29:20,978,878...20,981,393

G

collagen type IV alpha 2 chain

severity

mRNA:increased expression:decidua basalis (human)

NCBI chr 3:88,564,328...88,760,191
Ensembl chr 3:88,563,903...88,760,411

G

endoplasmic reticulum aminopeptidase 1

severity

mRNA:increased expression:decidua basalis (human)

NCBI chr 4:90,591,198...90,642,331
Ensembl chr 4:90,600,690...90,637,563

G

endoplasmic reticulum aminopeptidase 2

severity

mRNA:increased expression:decidua basalis (human)

NCBI chr 4:90,707,064...90,754,413
Ensembl chr 4:90,707,181...90,752,325

G

glutathione peroxidase 3

protein:increased expression:plasma

NCBI chr23:53,576,950...53,585,321

G

leucyl and cystinyl aminopeptidase

severity

mRNA:increased expression:decidua basalis (human)

NCBI chr 4:90,769,988...90,872,205
Ensembl chr 4:90,770,272...90,863,268

G

retinol binding protein 4

severity

protein:increased expression:blood serum (human)
protein:decreased expression:blood serum (human)

PMID:19573524 PMID:27279411 PMID:31949674

RGD:329845847 RGD:329845853 RGD:329845859

NCBI chr 9:86,831,042...86,840,668
Ensembl chr 9:86,830,957...86,840,250

Term paths to the root

Path 1
Term	Annotations
disease	15417
disease of anatomical entity	15080
cardiovascular system disease	4396
vascular disease	3004
artery disease	1957
hypertension	895
Adams Nance Syndrome	0
Diastolic Hypertension, Resistance to	2
Faye-Petersen Ward Carey Syndrome	0
Grange Syndrome	2
Hypertension Resistant to Conventional Therapy	3
Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy	1
Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial	0
Idiopathic Intracranial Hypertension with Papilledema	0
Isolated Systolic Hypertension	2
Kallikrein Hypertension	0
Masked Hypertension	1
Pregnancy-Induced Hypertension +	137
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension	0
Stress-Induced Hypertension	0
Tachycardia, Hypertension, Microphthalmia, And Hyperglycinuria	0
White Coat Hypertension	0
early onset hypertension	0
essential hypertension +	49
hypertension and brachydactyly syndrome	1
hypertensive retinopathy	2
malignant hypertension +	4
pulmonary hypertension +	376
secondary hypertension +	74

paths to the root