hypertension - Ontology Report - Rat Genome Database

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

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.

show annotations for term's descendants Sort by:
Rat (1728) Mouse (1060) Human (5324) Chinchilla (938) Bonobo (1004) Dog (1025) Squirrel (953) Pig (1014) Green Monkey (986) Naked Mole-rat (946) All
Genes (1060)

hypertension

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

4-aminobutyrate aminotransferase

RGD

NCBI chr16:8,331,293...8,439,432
Ensembl chr16:8,331,293...8,439,432

G

ATP-binding cassette, sub-family C member 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:14,179,317...14,292,743
Ensembl chr16:14,179,422...14,293,601

G

ATP-binding cassette, sub-family C member 8

associated with obesity;DNA:polymorphism:exon:

RGD

NCBI chr 7:45,753,952...45,829,441
Ensembl chr 7:45,753,947...45,829,457

G

ATP-binding cassette, sub-family C member 9

protein:decreased expression:aorta

RGD

PMID:15964031 PMID:18471810

RGD:1598644, RGD:2301909

NCBI chr 6:142,533,592...142,648,472
Ensembl chr 6:142,533,588...142,648,041

G

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

susceptibility

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

RGD

NCBI chr 2:26,732,508...26,754,973
Ensembl chr 2:26,732,515...26,754,991

G

angiotensin I converting enzyme

treatment
susceptibility

CTD Direct Evidence: marker/mechanism
protein:increased activity:lung (rat)
DNA:polymorphism

CTD
RGD

PMID:15773232 PMID:17473847 PMID:20237592 PMID:27847271 PMID:17392119 More...

RGD:1601113, RGD:401793709, RGD:40400899, RGD:1581743, RGD:11039415, RGD:1331525, RGD:8157611, RGD:1601114

NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790

G

angiotensin converting enzyme 2

treatment

associated with Metabolic Syndrome X (MeSH:D024821)
mRNA, protein:decreased expression:kidney (rat)
CTD Direct Evidence: marker/mechanism|therapeutic
mRNA, protein:decreased expression:aorta

CTD
RGD

PMID:12075344 PMID:15833808 PMID:17473847 PMID:18391097 PMID:19221212 More...

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

NCBI chr X:162,922,338...162,971,414
Ensembl chr X:162,922,328...162,971,416

G

acyl-CoA synthetase medium-chain family member 3

RGD

PMID:8507454 PMID:8094726

RGD:634023, RGD:61050

NCBI chr 7:119,360,106...119,384,119
Ensembl chr 7:119,360,146...119,386,736

G

actin, alpha, cardiac muscle 1

RGD

NCBI chr 2:113,877,763...113,883,356
Ensembl chr 2:113,877,763...113,884,029

G

adenosine deaminase

RGD

NCBI chr 2:163,565,703...163,592,154
Ensembl chr 2:163,568,504...163,592,159

G

ADAM metallopeptidase with thrombospondin type 1 motif 16

RGD

NCBI chr13:70,875,917...70,989,956
Ensembl chr13:70,875,921...70,989,930

G

adenylate cyclase 5

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

CTD
RGD

PMID:12717102 PMID:12717102

NCBI chr16:34,974,933...35,126,108
Ensembl chr16:34,975,247...35,126,108

G

adducin 1

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

CTD
RGD

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

RGD:1624953, RGD:1302895

NCBI chr 5:34,731,008...34,789,652
Ensembl chr 5:34,731,008...34,789,652

G

adducin 2

no_association

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

RGD
GAD

PMID:16497648 PMID:24652215 PMID:15118671

RGD:1625293, RGD:10047131, RGD:1331525

NCBI chr 6:86,005,663...86,101,391
Ensembl chr 6:86,005,663...86,101,391

G

adducin 3

NCBI chr19:53,128,874...53,235,518
Ensembl chr19:53,128,874...53,235,830

G

adiponectin, C1Q and collagen domain containing

CTD Direct Evidence: marker/mechanism

NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778

G

adrenomedullin

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

RGD

PMID:16450076 PMID:16625237

RGD:1625300, RGD:1625298

NCBI chr 7:110,226,864...110,229,027
Ensembl chr 7:110,226,868...110,229,027

G

adenosine A1 receptor

treatment
no_association

associated with diabetes mellitus, experimental

RGD

PMID:8998253 PMID:9597368 PMID:15257174

RGD:1625366, RGD:1625365, RGD:1625367

NCBI chr 1:134,126,953...134,163,195
Ensembl chr 1:134,126,963...134,163,169

G

adenosine A2a receptor

no_association

RGD
GAD

PMID:15257174 PMID:15118671

RGD:1625367, RGD:1331525

NCBI chr10:75,152,711...75,170,626
Ensembl chr10:75,152,711...75,170,618

G

adrenergic receptor, alpha 1a

mRNA:decreased expression:aorta

RGD

PMID:16371063 PMID:19011682

RGD:1625770, RGD:5688340

NCBI chr14:66,872,705...67,009,549
Ensembl chr14:66,872,700...67,008,617

G

adrenergic receptor, alpha 1b

RGD

NCBI chr11:43,665,432...43,792,076
Ensembl chr11:43,665,433...43,792,037

G

adrenergic receptor, alpha 2a

no_association

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

CTD
RGD

PMID:10694191 PMID:16636200 PMID:20691504

RGD:1625183, RGD:6480490

NCBI chr19:54,033,690...54,037,413
Ensembl chr19:54,032,582...54,037,413

G

adrenergic receptor, alpha 2b

DNA:polymorphism (human)

RGD

PMID:17070424 PMID:18953403

RGD:2313548, RGD:2313541

NCBI chr 2:127,205,099...127,209,141
Ensembl chr 2:127,205,128...127,209,141

G

adrenergic receptor, beta 1

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

CTD
RGD

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

RGD:5129127, RGD:7241549

NCBI chr19:56,710,549...56,713,582
Ensembl chr19:56,710,631...56,721,545

G

adrenergic receptor, beta 2

no_association
susceptibility

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

RGD
GAD

PMID:17221209 PMID:16041242 PMID:15118671 PMID:2471888 PMID:20484896 More...

RGD:1601119, RGD:1578728, RGD:1331525, RGD:7175287, RGD:7175066, RGD:4144883, RGD:1601123

NCBI chr18:62,310,784...62,313,052
Ensembl chr18:62,310,887...62,313,030

G

adrenergic receptor, beta 3

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

RGD

NCBI chr 8:27,715,804...27,720,833
Ensembl chr 8:27,715,804...27,740,644

G

advanced glycosylation end product-specific receptor

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

CTD
RGD

PMID:32147540 PMID:19018797

NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910

G

angiotensinogen

treatment
no_association
susceptibility

ClinVar Annotator: match by term: Hypertension
CTD Direct Evidence: marker/mechanism|therapeutic
DNA:polymorphisms: :p.T174M, p.M235T (human)
DNA:polymorphisms: :-6G>A, p.M235T, p.T174M
DNA:polymorphism: :p.M235T
DNA:polymorphism:promoter:-20C>A (human)
protein:increased expression:plasma, urine
DNA:polymorphism: :p.M268T (human)

ClinVar
CTD
RGD

PMID:43064 PMID:1394429 PMID:1432030 PMID:1849535 PMID:1860718 More...

RGD:1358275, RGD:329956421, RGD:11039415, RGD:8549470, RGD:8549469, RGD:8549458, RGD:8548902, RGD:1300393, RGD:1331525, RGD:1601143, RGD:1601130, RGD:1601141, RGD:1601139, RGD:5129176, RGD:5129166

NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445

G

angiotensin II receptor, type 1a

treatment
no_association
susceptibility

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

CTD
RGD

PMID:8952600 PMID:19047579 PMID:23603059 PMID:27292124 PMID:21346625 More...

RGD:5129176, RGD:401793709, RGD:8549458, RGD:1331525, RGD:5147456, RGD:1601152, RGD:1601148, RGD:5129169

NCBI chr13:30,520,339...30,566,850
Ensembl chr13:30,520,424...30,566,850

G

angiotensin II receptor, type 1b

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:22728133 PMID:27847271 PMID:10994756

NCBI chr 3:20,368,637...20,421,341
Ensembl chr 3:20,368,637...20,421,341

G

angiotensin II receptor, type 2

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

CTD
RGD

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

RGD:5129169, RGD:6903865, RGD:6903372

NCBI chr X:21,350,863...21,355,072
Ensembl chr X:21,350,783...21,355,403

G

angiotensin II, type I receptor-associated protein

protein:increased expression:kidney

RGD

NCBI chr 4:148,161,518...148,172,521
Ensembl chr 4:148,161,518...148,172,488

G

alanine-glyoxylate aminotransferase 2

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

RGD

NCBI chr15:10,358,602...10,410,244
Ensembl chr15:10,358,618...10,410,239

G

S-adenosylhomocysteine hydrolase

associated with hyperhomocysteinemia

RGD

NCBI chr 2:154,901,230...154,916,417
Ensembl chr 2:154,901,230...154,916,417

G

aryl-hydrocarbon receptor

treatment

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

CTD
RGD

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

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

NCBI chr12:35,547,978...35,584,988
Ensembl chr12:35,547,973...35,585,037

G

aryl-hydrocarbon receptor repressor

treatment

RGD

PMID:30127255 PMID:31489946

RGD:401793709, RGD:401793758

NCBI chr13:74,359,237...74,440,450
Ensembl chr13:74,359,237...74,440,450

G

allograft inflammatory factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:35,389,967...35,394,977
Ensembl chr17:35,389,967...35,395,044

G

thymoma viral proto-oncogene 1

protein:increased serine phosphorylation:kidney

RGD

NCBI chr12:112,620,260...112,641,266
Ensembl chr12:112,620,255...112,641,318

G

thymoma viral proto-oncogene 2

mRNA:increased expression:cerebral cortex (rat)

RGD

NCBI chr 7:27,290,977...27,340,251
Ensembl chr 7:27,290,977...27,340,251

G

aminolevulinate, delta-, dehydratase

no_association

DNA:polymorphism
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:20123609 PMID:11335187

NCBI chr 4:62,422,762...62,438,300
Ensembl chr 4:62,427,406...62,438,155

G

albumin

CTD Direct Evidence: therapeutic

NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461

G

aldehyde dehydrogenase 2, mitochondrial

susceptibility
no_association

RGD

PMID:11510748 PMID:12484509

RGD:1601164, RGD:1601163

NCBI chr 5:121,704,090...121,731,887
Ensembl chr 5:121,704,090...121,731,887

G

arachidonate 12-lipoxygenase

mRNA:decreased expression:medulla oblongata

RGD

NCBI chr11:70,132,283...70,146,206
Ensembl chr11:70,132,283...70,146,179

G

arachidonate 15-lipoxygenase

CTD Direct Evidence: marker/mechanism

NCBI chr11:70,234,973...70,279,465
Ensembl chr11:70,234,978...70,242,857

G

arachidonate 5-lipoxygenase

RGD

NCBI chr 6:116,387,030...116,438,139
Ensembl chr 6:116,387,038...116,438,139

G

angiopoietin 1

protein:increased expression:plasma, platelet

RGD

PMID:16942942 PMID:18285514

RGD:1626157, RGD:2316068

NCBI chr15:42,288,063...42,540,373
Ensembl chr15:42,288,119...42,540,373

G

angiopoietin 2

RGD

NCBI chr 8:18,740,279...18,791,578
Ensembl chr 8:18,740,279...18,791,578

G

annexin A1

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

CTD
RGD

PMID:22228705 PMID:16109804

NCBI chr19:20,350,798...20,368,035
Ensembl chr19:20,350,792...20,368,308

G

amine oxidase, copper-containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:48,872,189...48,886,122
Ensembl chr 6:48,849,830...48,886,122

G

amine oxidase, copper containing 3

CTD Direct Evidence: marker/mechanism

NCBI chr11:101,221,432...101,230,256
Ensembl chr11:101,221,431...101,232,764

G

apelin

mRNA:decreased expression:aorta, heart

RGD

NCBI chr X:47,114,023...47,123,730
Ensembl chr X:47,114,023...47,123,730

G

apolipoprotein A-I

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:18224302 PMID:23401751

NCBI chr 9:46,139,928...46,141,767
Ensembl chr 9:46,139,878...46,141,764

G

apolipoprotein B

GAD

NCBI chr12:8,027,629...8,066,839
Ensembl chr12:8,027,648...8,066,835

G

apolipoprotein E

onset

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

CTD
RGD

PMID:20720404 PMID:22228705 PMID:20585107 PMID:15118671

RGD:6904214, RGD:1331525

NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113

G

amyloid beta precursor protein

RGD

NCBI chr16:84,751,236...84,972,187
Ensembl chr16:84,746,573...84,970,654

G

aquaporin 1

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:22228705 PMID:20156423

NCBI chr 6:55,313,284...55,325,540
Ensembl chr 6:55,313,417...55,325,540

G

aquaporin 2

protein:increased expression:kidney medulla

RGD

NCBI chr15:99,476,937...99,482,426
Ensembl chr15:99,476,936...99,482,428

G

aquaporin 4

RGD

NCBI chr18:15,522,451...15,544,039
Ensembl chr18:15,522,553...15,544,039

G

androgen receptor

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:10523385 PMID:15746697 PMID:12397037

RGD:1601245, RGD:10043316

NCBI chr X:97,192,363...97,366,824
Ensembl chr X:97,192,375...97,366,821

G

arginase, liver

mRNA:increased expression:aorta (rat)

RGD

PMID:18475148 PMID:17223136

RGD:4142834, RGD:1626296

NCBI chr10:24,791,105...24,803,368
Ensembl chr10:24,791,119...24,803,382

G

arginase type II

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

RGD

PMID:20039818 PMID:17223136 PMID:18475148

RGD:4143278, RGD:1626296, RGD:4142834

NCBI chr12:79,177,562...79,203,075
Ensembl chr12:79,177,551...79,203,075

G

Rho GDP dissociation inhibitor alpha

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

RGD

PMID:19689474 PMID:25164814

RGD:9684972, RGD:9684979

NCBI chr11:120,468,925...120,472,450
Ensembl chr11:120,468,930...120,472,450

G

AT-rich interaction domain 1B

treatment

RGD

NCBI chr17:5,044,481...5,397,931
Ensembl chr17:5,044,607...5,397,931

G

aryl hydrocarbon receptor nuclear translocator

treatment

RGD

PMID:23528973 PMID:31489946

RGD:401793732, RGD:401793758

NCBI chr 3:95,341,674...95,404,551
Ensembl chr 3:95,341,699...95,404,551

G

arrestin, beta 2

protein:decreased expression:rostral ventrolateral medulla

RGD

NCBI chr11:70,323,051...70,331,654
Ensembl chr11:70,323,461...70,331,654

G

activating transcription factor 2

RGD

NCBI chr 2:73,646,853...73,723,094
Ensembl chr 2:73,646,853...73,722,983

G

autophagy related 7

protein:increased expression:skeletal muscle

RGD

NCBI chr 6:114,620,075...114,837,565
Ensembl chr 6:114,620,058...114,837,575

G

antioxidant 1 copper chaperone

CTD Direct Evidence: therapeutic

NCBI chr11:55,337,463...55,352,034
Ensembl chr11:55,337,467...55,352,065

G

ATPase, Na+/K+ transporting, alpha 1 polypeptide

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:23416519 PMID:8082931

NCBI chr 3:101,483,535...101,512,023
Ensembl chr 3:101,483,535...101,512,000

G

ATPase, Na+/K+ transporting, alpha 2 polypeptide

susceptibility

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

CTD
RGD

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

RGD:1601253, RGD:1601251, RGD:1601254

NCBI chr 1:172,099,276...172,125,631
Ensembl chr 1:172,099,276...172,125,631

G

ATPase, Ca++ transporting, ubiquitous

RGD

NCBI chr11:72,851,995...72,883,869
Ensembl chr11:72,851,995...72,883,870

G

ATPase, Ca++ transporting, plasma membrane 1

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

CTD
RGD

PMID:19430479 PMID:20137670

NCBI chr10:98,750,243...98,862,005
Ensembl chr10:98,750,268...98,862,005

G

ATPase, Ca++ transporting, plasma membrane 3

CTD Direct Evidence: marker/mechanism

NCBI chr X:72,546,356...72,632,267
Ensembl chr X:72,546,692...72,614,611

G

ATP synthase F1 subunit alpha

protein:decreased expression:heart left ventricle (rat)

RGD

NCBI chr18:77,861,468...77,870,569
Ensembl chr18:77,861,429...77,870,569

G

ATPase, H+ transporting, lysosomal accessory protein 2

RGD

NCBI chr X:12,453,998...12,483,290
Ensembl chr X:12,454,040...12,483,288

G

arginine vasopressin

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

CTD
RGD

PMID:1663982 PMID:3346065 PMID:4040330 PMID:6367368 PMID:19133994 More...

RGD:1601305, RGD:1601243

NCBI chr 2:130,422,540...130,424,508
Ensembl chr 2:130,422,540...130,424,474

G

arginine vasopressin receptor 1A

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

RGD

PMID:15657301 PMID:15475662 PMID:17653244

RGD:2300322, RGD:2300330, RGD:2300319

NCBI chr10:122,284,404...122,289,358
Ensembl chr10:122,284,404...122,289,357

G

arginine vasopressin receptor 2

severity

RGD

NCBI chr X:72,935,371...72,938,034
Ensembl chr X:72,935,708...72,939,108

G

beta-2 microglobulin

protein:increased expression:serum

RGD

NCBI chr 2:121,978,168...121,983,563
Ensembl chr 2:121,978,167...121,983,564

G

BCL2-associated agonist of cell death

treatment

RGD

NCBI chr19:6,919,229...6,929,273
Ensembl chr19:6,919,229...6,929,267

G

BCL2-associated X protein

treatment

RGD

NCBI chr 7:45,111,124...45,116,332
Ensembl chr 7:45,111,121...45,116,322

G

butyrylcholinesterase

RGD

NCBI chr 3:73,543,138...73,615,767
Ensembl chr 3:73,543,141...73,615,748

G

B cell leukemia/lymphoma 2

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:10075388 PMID:20065158

NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004

G

bradykinin receptor, beta 1

RGD

PMID:17988733 PMID:12025958 PMID:15643125

RGD:5129214, RGD:704378, RGD:1625732

NCBI chr12:105,570,350...105,571,770
Ensembl chr12:105,569,344...105,571,687

G

bradykinin receptor, beta 2

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

CTD
RGD

PMID:10614985 PMID:10904024 PMID:11934804 PMID:15118671 PMID:12025958

RGD:4891034, RGD:4890455, RGD:1331525, RGD:704378

NCBI chr12:105,529,431...105,561,503
Ensembl chr12:105,529,485...105,561,496

G

beclin 1, autophagy related

protein:increased expression:brain

RGD

NCBI chr11:101,179,084...101,193,112
Ensembl chr11:101,176,778...101,193,112

G

basic helix-loop-helix ARNT like 2

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

RGD

NCBI chr 6:146,696,230...146,735,027
Ensembl chr 6:146,697,553...146,735,027

G

bone morphogenetic protein 2

treatment

RGD

NCBI chr 2:133,394,079...133,404,816
Ensembl chr 2:133,394,079...133,404,805

G

breast cancer 1, early onset

treatment

RGD

NCBI chr11:101,379,587...101,442,808
Ensembl chr11:101,379,590...101,442,781

G

bombesin-like receptor 3

RGD

NCBI chr X:56,088,434...56,094,118
Ensembl chr X:56,088,434...56,094,118

G

complement component 3

RGD

NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136

G

calcium channel, voltage-dependent, L type, alpha 1C subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 6:118,564,201...119,174,345
Ensembl chr 6:118,564,201...119,173,851

G

calcium channel, voltage-dependent, alpha2/delta subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:16,139,390...16,579,509
Ensembl chr 5:16,139,786...16,579,502

G

calcium channel, voltage-dependent, beta 2 subunit

susceptibility

DNA:SNP: :rs4373814(human)

RGD

NCBI chr 2:14,608,672...14,993,622
Ensembl chr 2:14,607,899...14,992,719

G

calcitonin/calcitonin-related polypeptide, alpha

CTD Direct Evidence: therapeutic

PMID:1849535 PMID:9887042

NCBI chr 7:114,225,223...114,236,145
Ensembl chr 7:114,230,713...114,235,592

G

calpain 6

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

RGD

NCBI chr X:142,585,232...142,610,408
Ensembl chr X:142,585,227...142,610,410

G

calpain 9

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

RGD

NCBI chr 8:125,301,361...125,345,470
Ensembl chr 8:125,302,850...125,345,470

G

caspase 3

treatment

RGD

PMID:20065158 PMID:27929425

RGD:10053702, RGD:13782308

NCBI chr 8:47,070,326...47,092,733
Ensembl chr 8:47,070,326...47,092,724

G

caspase 8

RGD

NCBI chr 1:58,834,553...58,886,663
Ensembl chr 1:58,834,533...58,886,662

G

caspase 9

RGD

NCBI chr 4:141,520,923...141,543,289
Ensembl chr 4:141,520,923...141,543,287

G

calpastatin

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

RGD

NCBI chr13:74,840,485...74,956,993
Ensembl chr13:74,840,487...74,956,929

G

catalase

CTD Direct Evidence: marker/mechanism

CTD
RGD

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

NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505

G

caveolin 1, caveolae protein

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

CTD
RGD

PMID:1798635 PMID:17986358

NCBI chr 6:17,306,387...17,341,323
Ensembl chr 6:17,306,334...17,341,451

G

cystathionine beta-synthase

CTD Direct Evidence: marker/mechanism

NCBI chr17:31,831,602...31,856,170
Ensembl chr17:31,827,868...31,856,212

G

C-C motif chemokine ligand 2

ameliorates
treatment

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

CTD
RGD

PMID:20667508 PMID:27292124 PMID:17989143 PMID:25715999 PMID:17922026 More...

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

NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279

G

C-C motif chemokine ligand 28

no_association

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

RGD

PMID:16840655 PMID:19829664

RGD:2298761, RGD:4892132

NCBI chr13:120,085,355...120,115,895
Ensembl chr13:120,085,355...120,115,895

G

C-C motif chemokine ligand 5

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

RGD

NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344

G

cellular communication network factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:24,471,340...24,474,581
Ensembl chr10:24,471,340...24,474,581

G

cyclin E1

protein:increased expression:vascular associated smooth muscle cell

RGD

NCBI chr 7:37,797,409...37,806,915
Ensembl chr 7:37,797,409...37,806,959

G

C-C motif chemokine receptor 5

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

RGD

PMID:20044442 PMID:12680626

RGD:4890416, RGD:1581182

NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736

G

CD14 antigen

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

RGD

NCBI chr18:36,858,117...36,859,868
Ensembl chr18:36,858,120...36,859,851

G

CD36 molecule

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:18587397 PMID:18587397

NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799

G

CD82 antigen

mRNA:increased expression:thymus

RGD

NCBI chr 2:93,249,447...93,293,295
Ensembl chr 2:93,249,456...93,293,485

G

cyclin dependent kinase inhibitor 2A

protein:increased expression:kidney

RGD

NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890

G

cysteine dioxygenase 1, cytosolic

protein:decreased expression:brain

RGD

NCBI chr18:46,846,260...46,861,569
Ensembl chr18:46,846,260...46,861,462

G

chymotrypsin-like elastase family, member 2A

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypertension

PMID:21602471 PMID:25741868 PMID:31358993

NCBI chr 4:141,542,265...141,553,316
Ensembl chr 4:141,542,273...141,553,471

G

chromogranin A

no_association

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

RGD

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

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

NCBI chr12:102,521,200...102,531,286
Ensembl chr12:102,521,228...102,531,287

G

chitinase 3 like 1

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

RGD

NCBI chr 1:134,109,894...134,117,769
Ensembl chr 1:134,109,914...134,117,919

G

carbohydrate sulfotransferase 12

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

RGD

NCBI chr 5:140,491,398...140,510,993
Ensembl chr 5:140,491,305...140,511,479

G

chloride channel, voltage-sensitive Ka

CTD Direct Evidence: marker/mechanism

NCBI chr 4:141,111,922...141,126,017
Ensembl chr 4:141,111,921...141,126,035

G

chloride channel, voltage-sensitive Kb

no_association

DNA:polymorphism:T481S

RGD

PMID:15148291 PMID:16003175

RGD:1600684, RGD:1600683

NCBI chr 4:141,131,668...141,143,440
Ensembl chr 4:141,131,664...141,143,325

G

claudin 16

Protein:decreased serine phosphorylation:kidney

RGD

NCBI chr16:26,281,885...26,301,515
Ensembl chr16:26,281,885...26,301,515

G

clock circadian regulator

mRNA:altered expression:gastrocnemius muscle (rat)

RGD

NCBI chr 5:76,357,715...76,452,675
Ensembl chr 5:76,357,715...76,452,639

G

clusterin

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

RGD

NCBI chr14:66,206,093...66,218,992
Ensembl chr14:66,205,932...66,218,996

G

chymase 1, mast cell

CTD Direct Evidence: marker/mechanism

NCBI chr14:56,178,908...56,182,132
Ensembl chr14:56,178,908...56,182,132

G

cannabinoid receptor 1

RGD

NCBI chr 4:33,923,171...33,948,831
Ensembl chr 4:33,924,593...33,948,831

G

collagen, type I, alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868

G

collagen, type III, alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:45,350,698...45,388,866
Ensembl chr 1:45,350,698...45,388,866

G

collagen, type IV, alpha 5

ClinVar Annotator: match by term: Hypertension

PMID:9848783 PMID:11223851 PMID:12028435 PMID:17396119 PMID:19728970 More...

NCBI chr X:140,258,367...140,472,232
Ensembl chr X:140,258,381...140,472,230

G

collagen, type VI, alpha 3

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

RGD

NCBI chr 1:90,694,582...90,771,710
Ensembl chr 1:90,693,645...90,771,693

G

catechol-O-methyltransferase

susceptibility

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

RGD

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

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

NCBI chr16:18,225,632...18,247,006
Ensembl chr16:18,225,636...18,245,602

G

corin, serine peptidase

RGD

PMID:17485366 PMID:16216958

RGD:1626338, RGD:1581219

NCBI chr 5:72,457,291...72,661,884
Ensembl chr 5:72,457,368...72,661,816

G

cytochrome c oxidase subunit 5B

protein:decreased expression:heart left ventricle

RGD

NCBI chr 1:36,730,568...36,732,469
Ensembl chr 1:36,730,530...36,732,762

G

carbamoyl-phosphate synthetase 1

protein:decreased expression:liver, mitochondrion

RGD

NCBI chr 1:67,151,294...67,270,426
Ensembl chr 1:67,162,185...67,270,418

G

cAMP responsive element binding protein 1

treatment

RGD

NCBI chr 1:64,571,963...64,643,707
Ensembl chr 1:64,571,804...64,643,707

G

corticotropin releasing hormone receptor 1

corticotropin releasing hormone-induced

RGD

NCBI chr11:104,021,289...104,066,349
Ensembl chr11:104,023,681...104,066,349

G

corticotropin releasing hormone receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:55,067,033...55,110,001
Ensembl chr 6:55,067,034...55,110,001

G

C-reactive protein, pentraxin-related

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

CTD
RGD

PMID:14620923 PMID:16680063 PMID:19770776 PMID:20667508 PMID:19905982 More...

RGD:5131461, RGD:9586008, RGD:9491754

NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598

G

cardiotrophin 1

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

RGD

PMID:15716706 PMID:8604995

RGD:1626411, RGD:69823

NCBI chr 7:127,311,872...127,317,360
Ensembl chr 7:127,311,908...127,317,364

G

cathepsin C

RGD

NCBI chr 7:87,927,233...87,960,083
Ensembl chr 7:87,927,293...87,960,096

G

C-X-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:91,051,758...91,053,797
Ensembl chr 5:91,051,730...91,053,797

G

C-X-C motif chemokine receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:74,193,153...74,200,405
Ensembl chr 1:74,193,150...74,200,405

G

cytochrome b-245, alpha polypeptide

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

CTD
RGD

PMID:16685210 PMID:17324946 PMID:20505675 PMID:32147540 PMID:20018820 More...

RGD:2317853, RGD:4775206, RGD:1580276

NCBI chr 8:123,151,510...123,159,679
Ensembl chr 8:123,151,515...123,159,669

G

cytochrome b-245, beta polypeptide

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

CTD
RGD

PMID:16685210 PMID:21593737 PMID:27659729 PMID:27847271 PMID:32147540 More...

NCBI chr X:9,301,493...9,354,005
Ensembl chr X:9,301,491...9,354,010

G

cytochrome P450, family 11, subfamily a, polypeptide 1

mRNA:increased expression:hypothalamus

RGD

NCBI chr 9:57,905,307...57,934,314
Ensembl chr 9:57,913,694...57,934,306

G

cytochrome P450, family 11, subfamily b, polypeptide 1

mRNA:decreased expression:hypothalamus, cerebellum, cortex (rat)

RGD

NCBI chr15:74,706,741...74,713,492
Ensembl chr15:74,705,974...74,713,492

G

cytochrome P450, family 11, subfamily b, polypeptide 2

DNA:transition:5' utr:-344C>T (human)
ClinVar Annotator: match by term: Aldosterone to renin ratio, increased
mRNA:increased expression:brainstem, hippocampus, cortex (rat)

PMID:12213905 PMID:12788845 PMID:17003099 PMID:10024332 PMID:18495825 More...

RGD:4891152, RGD:2307304, RGD:4891156

NCBI chr15:74,722,467...74,728,080
Ensembl chr15:74,722,859...74,728,167

G

cytochrome P450, family 19, subfamily a, polypeptide 1

mRNA:decreased expression:ovary (rat)

RGD

NCBI chr 9:54,073,221...54,175,448
Ensembl chr 9:54,073,221...54,175,394

G

cytochrome P450, family 1, subfamily a, polypeptide 1

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:20634294 PMID:22995157 PMID:20634294 PMID:31489946 PMID:23528973 More...

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

NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107

G

cytochrome P450, family 1, subfamily b, polypeptide 1

treatment

RGD

NCBI chr17:80,014,369...80,022,490
Ensembl chr17:80,008,966...80,022,490

G

cytochrome P450, family 2, subfamily c, polypeptide 52, pseudogene

NCBI chr19:38,965,106...38,992,071
Ensembl chr19:38,965,091...38,991,733

G

cytochrome P450, family 2, subfamily c, polypeptide 55

RGD

PMID:19669737 PMID:18829737

RGD:6903909, RGD:6903915

NCBI chr19:38,995,384...39,031,134
Ensembl chr19:38,995,463...39,031,137

G

cytochrome P450, family 2, subfamily c, polypeptide 65

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

PMID:17305793 PMID:19669737

RGD:2307150 RGD:6903909

NCBI chr19:39,049,450...39,082,392
Ensembl chr19:39,049,459...39,082,388

G

cytochrome P450, family 2, subfamily j, polypeptide 6

susceptibility

DNA:SNP

RGD

PMID:17286575 PMID:20501636

RGD:1625379, RGD:7243136

NCBI chr 4:96,404,375...96,449,835
Ensembl chr 4:96,404,375...96,441,898

G

cytochrome P450, family 2, subfamily j, polypeptide 9

susceptibility

DNA:SNP

PMID:17286575 PMID:20501636

RGD:1625379 RGD:7243136

NCBI chr 4:96,456,661...96,480,748
Ensembl chr 4:96,456,666...96,479,815

G

cytochrome P450, family 2, subfamily r, polypeptide 1

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

RGD

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

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

NCBI chr 7:114,149,358...114,162,283
Ensembl chr 7:114,148,917...114,162,207

G

cytochrome P450, family 4, subfamily a, polypeptide 10

CTD Direct Evidence: marker/mechanism
mRNA:decreased expression:kidney cortex

CTD
RGD

PMID:16691295 PMID:18952718 PMID:16339392

RGD:2303381, RGD:2303383

NCBI chr 4:115,375,484...115,390,846
Ensembl chr 4:115,375,461...115,390,846

G

cytochrome P450, family 4, subfamily a, polypeptide 12B

mRNA:decreased expression:kidney cortex

RGD

PMID:18952718 PMID:16339392

RGD:2303381, RGD:2303383

NCBI chr 4:115,268,821...115,296,231
Ensembl chr 4:115,268,821...115,296,231

G

cytochrome P450, family 4, subfamily f, polypeptide 14

mRNA:increased expression:kidney

RGD

NCBI chr17:33,122,331...33,136,353
Ensembl chr17:33,124,044...33,136,316

G

aspartyl-tRNA synthetase 2 (mitochondrial)

ClinVar Annotator: match by term: Hypertension

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

NCBI chr 1:160,868,171...160,898,236
Ensembl chr 1:160,868,171...160,898,228

G

dopamine beta hydroxylase

resistance

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

RGD

PMID:20596792 PMID:20814407

RGD:5129234, RGD:5129211

NCBI chr 2:27,055,519...27,073,216
Ensembl chr 2:27,055,245...27,073,212

G

dimethylarginine dimethylaminohydrolase 1

susceptibility

RGD

NCBI chr 3:145,464,447...145,600,032
Ensembl chr 3:145,464,430...145,600,032

G

deiodinase, iodothyronine, type II

susceptibility

RGD

NCBI chr12:90,691,326...90,705,812
Ensembl chr12:90,691,326...90,705,812

G

dopamine receptor D1

RGD

NCBI chr13:54,205,202...54,209,677
Ensembl chr13:54,205,202...54,209,724

G

dopamine receptor D2

DNA:polymorphism
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:11566895 PMID:15939106 PMID:11494094

RGD:1600905, RGD:1580874

NCBI chr 9:49,251,703...49,319,468
Ensembl chr 9:49,251,927...49,319,477

G

dopamine receptor D3

RGD

NCBI chr16:43,574,285...43,646,353
Ensembl chr16:43,574,389...43,643,295

G

dopamine receptor D5

RGD

NCBI chr 5:38,476,742...38,479,868
Ensembl chr 5:38,476,710...38,479,861

G

dual specificity phosphatase 1

mRNA, protein:increased expression:aorta

RGD

NCBI chr17:26,724,565...26,727,446
Ensembl chr17:26,724,564...26,781,102

G

dual specificity phosphatase 5

CTD Direct Evidence: marker/mechanism

NCBI chr19:53,517,576...53,530,240
Ensembl chr19:53,517,540...53,530,862

G

dynein light chain LC8-type 1

treatment

RGD

NCBI chr 5:115,435,129...115,438,995
Ensembl chr 5:115,435,169...115,439,058

G

endothelin converting enzyme 1

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

CTD
RGD

PMID:12566389 PMID:15126915 PMID:10894793

RGD:1580904, RGD:7244182

NCBI chr 4:137,589,548...137,692,540
Ensembl chr 4:137,589,548...137,692,540

G

endothelin 1

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

CTD
RGD

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

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

NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466

G

endothelin 2

mRNA:increased expression:leukocyte

RGD

PMID:15007037 PMID:10489105 PMID:10976780

RGD:1625402, RGD:1580917, RGD:1580916

NCBI chr 4:120,018,403...120,024,557
Ensembl chr 4:120,018,403...120,024,557

G

endothelin 3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:174,602,412...174,625,835
Ensembl chr 2:174,602,412...174,625,835

G

endothelin receptor type A

associated with Uremia
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:12600921 PMID:20144075 PMID:14616768

RGD:4892284, RGD:1580950

NCBI chr 8:78,389,658...78,451,081
Ensembl chr 8:78,389,660...78,451,093

G

endothelin receptor type B

associated with Uremia

RGD

PMID:20144075 PMID:10749572

RGD:4892284, RGD:628518

NCBI chr14:104,052,055...104,081,764
Ensembl chr14:104,052,061...104,081,838

G

epidermal growth factor receptor

mRNA, protein:increased expression:renal cortex

RGD

NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158

G

egl-9 family hypoxia-inducible factor 1

RGD

NCBI chr 8:125,635,325...125,676,063
Ensembl chr 8:125,635,326...125,676,063

G

eukaryotic translation initiation factor 4, gamma 2

mRNA:increased expression:heart left ventricle

RGD

NCBI chr 7:110,667,192...110,682,237
Ensembl chr 7:110,666,957...110,682,237

G

elastin

CTD Direct Evidence: marker/mechanism

NCBI chr 5:134,731,449...134,776,300
Ensembl chr 5:134,731,447...134,776,177

G

elastin microfibril interfacer 1

RGD

NCBI chr 5:31,070,729...31,078,623
Ensembl chr 5:31,070,746...31,078,621

G

endoglin

mRNA:decreased expression:kidney (rat)

RGD

NCBI chr 2:32,536,607...32,572,681
Ensembl chr 2:32,536,607...32,572,681

G

enolase 1, alpha non-neuron

RGD

NCBI chr 4:150,321,165...150,333,336
Ensembl chr 4:150,321,178...150,333,336

G

enolase 2, gamma neuronal

severity

protein:increased expression:serum

RGD

NCBI chr 6:124,737,018...124,746,489
Ensembl chr 6:124,737,016...124,746,636

G

ectonucleoside triphosphate diphosphohydrolase 2

RGD

NCBI chr 2:25,285,886...25,291,335
Ensembl chr 2:25,285,886...25,291,333

G

E1A binding protein p300

protein:increased expression:left ventricle (rat)

RGD

NCBI chr15:81,470,329...81,536,273
Ensembl chr15:81,469,552...81,536,278

G

epoxide hydrolase 2, cytoplasmic

susceptibility

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

RGD

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

RGD:1580987, RGD:5688733, RGD:5688730, RGD:5688727

NCBI chr14:66,321,821...66,361,971
Ensembl chr14:66,321,823...66,361,949

G

erythropoietin

CTD Direct Evidence: marker/mechanism

PMID:1516988 PMID:10694834

NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504

G

erythropoietin receptor

susceptibility

induced by erythropoietin;

RGD

NCBI chr 9:21,870,193...21,874,915
Ensembl chr 9:21,870,193...21,874,802

G

endoplasmic reticulum aminopeptidase 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:74,787,692...74,841,321
Ensembl chr13:74,787,687...74,841,320

G

estrogen receptor 2 (beta)

RGD

PMID:15167447 PMID:23608653 PMID:11799247

RGD:1581017, RGD:7364951, RGD:734949

NCBI chr12:76,167,193...76,224,033
Ensembl chr12:76,167,193...76,224,033

G

coagulation factor XI

CTD Direct Evidence: marker/mechanism

NCBI chr 8:45,693,696...45,715,092
Ensembl chr 8:45,694,211...45,715,068

G

F11 receptor

susceptibility

DNA:SNPs: :rs790056, rs2774276 (human)

RGD

PMID:18067551 PMID:17420334

RGD:7488938, RGD:7488939

NCBI chr 1:171,265,129...171,292,161
Ensembl chr 1:171,265,103...171,292,171

G

coagulation factor XII (Hageman factor)

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypertension

PMID:6383834 PMID:16638441 PMID:25741868

NCBI chr13:55,565,771...55,574,617
Ensembl chr13:55,565,771...55,574,606

G

coagulation factor II thrombin receptor

RGD

NCBI chr13:95,738,288...95,754,974
Ensembl chr13:95,738,311...95,754,995

G

coagulation factor III

treatment

RGD

NCBI chr 3:121,517,186...121,528,701
Ensembl chr 3:121,517,186...121,528,697

G

coagulation factor VII

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

RGD

PMID:10450539 PMID:8123879 PMID:812575

RGD:2312402, RGD:2312412, RGD:2312323

NCBI chr 8:13,075,499...13,085,809
Ensembl chr 8:13,076,034...13,085,809

G

fatty acid binding protein 1, liver

possibly associated with arteriosclerosis (MeSH:D001161)

RGD

NCBI chr 6:71,176,863...71,182,018
Ensembl chr 6:71,176,811...71,182,007

G

fatty acid binding protein 3, muscle and heart

susceptibility

DNA:SNPs

RGD

NCBI chr 4:130,202,531...130,209,256
Ensembl chr 4:130,202,388...130,209,256

G

Fas associated via death domain

treatment

RGD

NCBI chr 7:144,132,060...144,136,178
Ensembl chr 7:144,131,055...144,136,200

G

fatty acid desaturase 1

RGD

NCBI chr19:10,160,245...10,174,238
Ensembl chr19:10,160,252...10,174,241

G

fumarylacetoacetate hydrolase

mRNA:decreased expression:kidney

RGD

NCBI chr 7:84,234,367...84,255,150
Ensembl chr 7:84,234,367...84,255,930

G

fibrillin 1

protein:increased expression:renal glomerulus (rat)

RGD

NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913

G

fibroblast growth factor 2

associated with Aortic Coarctation

RGD

NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257

G

fibroblast growth factor 21

CTD Direct Evidence: therapeutic

NCBI chr 7:45,263,314...45,264,914
Ensembl chr 7:45,263,310...45,264,914

G

flavin containing monooxygenase 3

no_association

associated with trimethylaminuria, OMIM:602079

RGD

PMID:16324215 PMID:9536088

RGD:1626466, RGD:1626461

NCBI chr 1:162,781,368...162,812,097
Ensembl chr 1:162,781,369...162,812,097

G

fibronectin 1

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

CTD
RGD

PMID:11682445 PMID:17324946 PMID:11907153 PMID:11682445

RGD:28912746, RGD:30296650

NCBI chr 1:71,624,632...71,692,439
Ensembl chr 1:71,624,679...71,692,359

G

fibronectin type III domain containing 5

CTD Direct Evidence: therapeutic

NCBI chr 4:129,030,672...129,038,386
Ensembl chr 4:129,030,477...129,038,386

G

FBJ osteosarcoma oncogene

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:12044476 PMID:24039778 PMID:16696897

NCBI chr12:85,520,664...85,524,048
Ensembl chr12:85,520,664...85,524,047

G

forkhead box P3

treatment

RGD

NCBI chr X:7,445,915...7,461,482
Ensembl chr X:7,439,883...7,461,484

G

FTO alpha-ketoglutarate dependent dioxygenase

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

RGD

PMID:31801409 PMID:20031594

RGD:329812016, RGD:329901765

NCBI chr 8:92,039,995...92,395,061
Ensembl chr 8:92,040,153...92,395,067

G

FXYD domain-containing ion transport regulator 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:45,311,007...45,321,576
Ensembl chr 9:45,310,967...45,321,576

G

gamma-aminobutyric acid type B receptor subunit 1

mRNA:increased expression:brain

RGD

NCBI chr17:37,356,888...37,385,197
Ensembl chr17:37,356,858...37,385,959

G

glutamate decarboxylase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:70,392,109...70,432,358
Ensembl chr 2:70,383,416...70,432,358

G

galanin and GMAP prepropeptide

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

CTD
RGD

PMID:10818254 PMID:15275958

NCBI chr19:3,459,915...3,464,544
Ensembl chr19:3,459,915...3,464,544

G

GATA binding protein 5

susceptibility

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

RGD

NCBI chr 2:179,966,881...179,977,296
Ensembl chr 2:179,966,926...179,976,492

G

glucagon

CTD Direct Evidence: marker/mechanism

NCBI chr 2:62,304,874...62,313,997
Ensembl chr 2:62,304,874...62,313,994

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)

CTD
RGD

PMID:12855421 PMID:12925450 PMID:33857222 PMID:15167268 PMID:12623977 More...

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

NCBI chr14:47,391,352...47,426,870
Ensembl chr14:47,391,352...47,426,870

G

glucokinase

susceptibility

RGD

NCBI chr11:5,850,816...5,900,081
Ensembl chr11:5,850,820...5,900,081

G

glutamate-cysteine ligase, catalytic subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 9:77,661,817...77,701,771
Ensembl chr 9:77,661,817...77,701,767

G

growth hormone secretagogue receptor

associated with Obesity

RGD

NCBI chr 3:27,425,500...27,433,384
Ensembl chr 3:27,425,500...27,432,159

G

gap junction protein, alpha 1

treatment

CTD Direct Evidence: marker/mechanism|therapeutic

CTD
RGD

PMID:16448880 PMID:36720419 PMID:16448880 PMID:23719203

RGD:7207810, RGD:8662439

NCBI chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609

G

gap junction protein, alpha 4

CTD Direct Evidence: marker/mechanism

NCBI chr 4:127,205,213...127,207,832
Ensembl chr 4:127,205,214...127,207,832

G

gap junction protein, alpha 5

treatment

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

CTD
RGD

PMID:19109587 PMID:19686729 PMID:11821709

RGD:7207417, RGD:7207848

NCBI chr 3:96,939,718...96,960,950
Ensembl chr 3:96,812,009...96,984,732

G

gap junction protein, gamma 1

CTD Direct Evidence: therapeutic

NCBI chr11:102,690,303...102,710,512
Ensembl chr11:102,690,405...102,710,526

G

glucuronyl C5-epimerase

DNA:SNP: : rs3865014 (human)

RGD

NCBI chr 9:61,964,526...62,029,891
Ensembl chr 9:61,964,530...62,029,937

G

glucagon-like peptide 1 receptor

CTD Direct Evidence: marker/mechanism

NCBI chr17:31,120,841...31,155,484
Ensembl chr17:31,120,791...31,159,765

G

G protein subunit alpha i2

treatment

RGD

PMID:27912212 PMID:15106810

RGD:13507308, RGD:13508592

NCBI chr 9:107,491,324...107,512,542
Ensembl chr 9:107,491,324...107,512,566

G

G protein subunit alpha i3

treatment

RGD

NCBI chr 3:108,014,591...108,053,468
Ensembl chr 3:108,014,596...108,053,462

G

GNAS complex locus

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:9506701 PMID:12215464 PMID:15118671

RGD:1580404, RGD:1331525

NCBI chr 2:174,126,113...174,188,537
Ensembl chr 2:174,126,113...174,188,537

G

guanine nucleotide binding protein (G protein), beta 3

no_association
susceptibility

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

CTD
RGD

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

RGD:2313206, RGD:1580408, RGD:1580410

NCBI chr 6:124,811,203...124,817,238
Ensembl chr 6:124,811,203...124,817,238

G

gonadotropin releasing hormone 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:67,982,717...67,986,889
Ensembl chr14:67,982,630...67,986,888

G

glycoprotein 1b, alpha polypeptide

CTD Direct Evidence: marker/mechanism

NCBI chr11:70,529,928...70,534,812
Ensembl chr11:70,529,948...70,532,862

G

glutathione peroxidase 1

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

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

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

NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542

G

glutathione peroxidase 3

treatment
susceptibility

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

RGD

PMID:23528973 PMID:21933611 PMID:32034489

RGD:401793732, RGD:401827166, RGD:401827127

NCBI chr11:54,793,680...54,801,213
Ensembl chr11:54,793,279...54,801,203

G

G protein-coupled receptor kinase 2

treatment

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

CTD
RGD

PMID:11901213 PMID:10642272 PMID:23913704

RGD:1625788, RGD:13792716

NCBI chr19:4,336,029...4,356,356
Ensembl chr19:4,336,029...4,356,250

G

G protein-coupled receptor kinase 3

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

RGD

NCBI chr 5:113,058,344...113,163,518
Ensembl chr 5:113,058,348...113,163,657

G

G protein-coupled receptor kinase 5

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

RGD

NCBI chr19:60,877,995...61,084,406
Ensembl chr19:60,878,187...61,084,406

G

glycogen synthase kinase 3 beta

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:22982863 PMID:22982863

NCBI chr16:37,909,363...38,066,446
Ensembl chr16:37,909,363...38,066,446

G

glutathione reductase

treatment

RGD

PMID:17198913 PMID:23528973

RGD:1600704, RGD:401793732

NCBI chr 8:34,143,266...34,188,190
Ensembl chr 8:34,142,551...34,188,191

G

glutathione S-transferase, alpha 1 (Ya)

CTD Direct Evidence: marker/mechanism

NCBI chr 9:78,137,951...78,149,965
Ensembl chr 9:78,137,938...78,149,966

G

glutathione S-transferase, mu 1

mRNA:decreased expression:kidney (rat)

RGD

NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289

G

glutathione S-transferase, mu 2

treatment

mRNA:decreased expression:kidney (rat)

RGD

PMID:18008142 PMID:23528973 PMID:12624007

RGD:2302178, RGD:401793732, RGD:631154

NCBI chr 3:107,889,018...107,893,736
Ensembl chr 3:107,889,018...107,893,769

G

glutathione S-transferase, mu 3

treatment

RGD

NCBI chr 3:107,871,019...107,876,484
Ensembl chr 3:107,871,012...107,876,599

G

glutathione S-transferase, pi 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985

G

glutathione S-transferase, theta 1

associated with scleroderma, systemic;DNA:deletion: :
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:22228705 PMID:11477481 PMID:32034489

RGD:5490587, RGD:401827127

NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418

G

guanylate cyclase 1, soluble, alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:81,999,734...82,053,253
Ensembl chr 3:81,999,734...82,053,096

G

histocompatibility 2, class II antigen A, alpha

DNA:polymorphisms (human)

RGD

NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797

G

H2A.X variant histone

treatment

RGD

NCBI chr 9:44,246,012...44,247,374
Ensembl chr 9:44,245,991...44,247,374

G

hepatitis A virus cellular receptor 1

protein:increased expression:urine

RGD

NCBI chr11:46,630,644...46,670,405
Ensembl chr11:46,625,907...46,670,405

G

histone deacetylase 6

protein:increased expression, activity:heart:

RGD

NCBI chr X:7,796,355...7,814,284
Ensembl chr X:7,796,359...7,814,128

G

histone deacetylase 8

protein:decreased expression:heart (mouse, rat)

RGD

NCBI chr X:101,328,244...101,549,005
Ensembl chr X:101,328,245...101,548,965

G

hepatocyte growth factor

susceptibility

DNA:polymorphism:intron13:C/A

PMID:15127882 PMID:15127882

RGD:1642064, RGD:1642064

NCBI chr 5:16,758,493...16,827,448
Ensembl chr 5:16,758,493...16,825,150

G

hypoxia inducible factor 1, alpha subunit

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

CTD
RGD

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

RGD:1626322, RGD:1626317, RGD:1626330

NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304

G

hexokinase 2

treatment

RGD

NCBI chr 6:82,702,004...82,751,437
Ensembl chr 6:82,702,006...82,751,435

G

high mobility group box 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:148,983,512...148,989,867
Ensembl chr 5:148,983,512...149,121,299

G

heme oxygenase 1

susceptibility
treatment

CTD Direct Evidence: marker/mechanism|therapeutic

CTD
RGD

PMID:16959961 PMID:22349312 PMID:22352330 PMID:12872043 PMID:20836698 More...

RGD:1598400, RGD:10755717, RGD:1580453

NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217

G

haptoglobin

susceptibility
onset

DNA:polymorphism
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16597321 PMID:7606649 PMID:23401751 PMID:8228210

RGD:1626351, RGD:7241867, RGD:1626352

NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804

G

histamine receptor H2

CTD Direct Evidence: marker/mechanism

NCBI chr13:54,345,990...54,390,201
Ensembl chr13:54,346,148...54,390,199

G

histamine receptor H3

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:9050021 PMID:9050021

NCBI chr 2:179,741,258...179,746,264
Ensembl chr 2:179,741,258...179,746,281

G

hydroxysteroid 11-beta dehydrogenase 1

susceptibility

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

CTD
RGD

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

NCBI chr 1:192,903,917...192,946,345
Ensembl chr 1:192,903,942...192,946,383

G

hydroxysteroid 11-beta dehydrogenase 2

apparent mineralocorticoid excess syndrome, OMIM:218030
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:kidney

CTD
RGD

PMID:7670488 PMID:9683905 PMID:9707624 PMID:11082157 PMID:9683587 More...

RGD:1625078, RGD:13800514, RGD:2308925

NCBI chr 8:106,245,378...106,250,620
Ensembl chr 8:106,245,387...106,250,620

G

hydroxysteroid (17-beta) dehydrogenase 4

mRNA:decreased expression:renal cortex (rat)

RGD

NCBI chr18:50,261,268...50,329,337
Ensembl chr18:50,261,268...50,329,336

G

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1

susceptibility

DNA:polymorphism:exon
mRNA:decreased expression:ovary (rat)

PMID:19228890 PMID:12054649

RGD:4761326, RGD:1626438

NCBI chr 3:98,749,672...98,767,110
Ensembl chr 3:98,759,510...98,767,110

G

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2

mRNA:decreased expression:ovary (rat)

RGD

NCBI chr 3:98,618,423...98,631,859
Ensembl chr 3:98,616,571...98,631,859

G

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 6

mRNA:increased expression:hypothalamus (rat)

RGD

NCBI chr 3:98,712,820...98,721,759
Ensembl chr 3:98,712,820...98,721,759

G

heat shock protein 8

mRNA: increased expression: leukocyte

RGD

NCBI chr 9:40,712,572...40,716,498
Ensembl chr 9:40,712,280...40,721,383

G

heat shock protein 1 (chaperonin)

mRNA:increased expression:brain, blood vessel

RGD

PMID:15729290 PMID:18948349

RGD:1624213, RGD:10402862

NCBI chr 1:55,116,992...55,127,402
Ensembl chr 1:55,116,994...55,127,402

G

perlecan (heparan sulfate proteoglycan 2)

mRNA:increased expression:aorta

RGD

NCBI chr 4:137,196,062...137,297,941
Ensembl chr 4:137,196,080...137,297,941

G

5-hydroxytryptamine (serotonin) receptor 1B

protein:increased expression:aorta

RGD

NCBI chr 9:81,510,344...81,515,885
Ensembl chr 9:81,510,344...81,515,881

G

5-hydroxytryptamine (serotonin) receptor 2A

susceptibility
no_association

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

RGD
GAD

PMID:11378836 PMID:15118671 PMID:15659047

RGD:1624375, RGD:1331525, RGD:1624371

NCBI chr14:74,878,314...74,944,299
Ensembl chr14:74,878,280...74,946,934

G

5-hydroxytryptamine (serotonin) receptor 2B

CTD Direct Evidence: marker/mechanism

NCBI chr 1:86,025,268...86,043,960
Ensembl chr 1:86,026,748...86,039,692

G

HtrA serine peptidase 1

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

RGD

NCBI chr 7:130,537,933...130,587,388
Ensembl chr 7:130,537,841...130,587,390

G

intercellular adhesion molecule 1

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

CTD
RGD

PMID:12149661 PMID:12425201 PMID:18619052

NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113

G

immediate early response 3

CTD Direct Evidence: marker/mechanism

NCBI chr17:36,132,605...36,133,803
Ensembl chr17:36,132,576...36,133,815

G

insulin-like growth factor 1

severity

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

CTD
RGD

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

RGD:1598427, RGD:12904968, RGD:1580474

NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904

G

insulin-like growth factor I receptor

protein:increased expression:aorta:

RGD

NCBI chr 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416

G

insulin-like growth factor binding protein 2

mRNA, protein:decreased expression:liver, plasma

RGD

NCBI chr 1:72,863,650...72,891,633
Ensembl chr 1:72,863,662...72,891,633

G

inhibitor of kappaB kinase beta

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:27659729 PMID:32147540 PMID:19246475

NCBI chr 8:23,149,228...23,196,605
Ensembl chr 8:23,149,228...23,196,605

G

interleukin 10

RGD

NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711

G

interleukin 17A

protein:increased expression:blood serum (human)

RGD

NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720

G

interleukin 1 beta

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

CTD
RGD

PMID:27292124 PMID:27659729 PMID:27847271 PMID:32147540 PMID:32165127 More...

RGD:1626638, RGD:7175338, RGD:1626635

NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059

G

interleukin 1 receptor antagonist

susceptibility

DNA:polymorphisms

RGD

PMID:11840488 PMID:11585563

RGD:1626667, RGD:1626668

NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506

G

interleukin 6

susceptibility

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

CTD
RGD

PMID:27292124 PMID:27659729 PMID:27847271 PMID:32147540 PMID:32165127 More...

RGD:1580485, RGD:329955577, RGD:2307283

NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979

G

interleukin 6 receptor, alpha

severity

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

RGD

NCBI chr 3:89,776,631...89,820,503
Ensembl chr 3:89,771,366...89,820,503

G

interleukin 6 signal transducer

severity

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

RGD

NCBI chr13:112,600,604...112,643,394
Ensembl chr13:112,600,604...112,646,620

G

inositol polyphosphate phosphatase-like 1

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

CTD
RGD

PMID:15220217 PMID:15220217

NCBI chr 7:101,471,839...101,487,419
Ensembl chr 7:101,471,839...101,487,436

G

insulin II

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

CTD
RGD

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

NCBI chr 7:142,232,393...142,233,463
Ensembl chr 7:142,232,393...142,297,118

G

inversin

associated with nephronophthisis 2;

RGD

NCBI chr 4:48,279,707...48,431,956
Ensembl chr 4:48,279,760...48,431,954

G

integrin alpha 9

susceptibility

DNA:SNP: :rs155524(human)

RGD

NCBI chr 9:118,435,777...118,730,071
Ensembl chr 9:118,435,758...118,730,071

G

integrin alpha V

protein:increased expression:artery

RGD

NCBI chr 2:83,554,796...83,637,261
Ensembl chr 2:83,554,741...83,637,260

G

integral membrane protein 2B

CTD Direct Evidence: marker/mechanism

NCBI chr14:73,599,666...73,622,729
Ensembl chr14:73,599,666...73,622,729

G

jun proto-oncogene

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:24039778 PMID:11358932

NCBI chr 4:94,937,273...94,940,459
Ensembl chr 4:94,937,271...94,940,459

G

potassium voltage-gated channel, shaker-related subfamily, member 3

protein:increased activity:T cell (human)

RGD

NCBI chr 3:106,943,486...106,947,223
Ensembl chr 3:106,943,485...106,945,386

G

potassium voltage-gated channel, shaker-related subfamily, member 5

mRNA:increased expression:heart

RGD

NCBI chr 6:126,509,514...126,512,518
Ensembl chr 6:126,509,514...126,512,375

G

potassium voltage-gated channel, shaker-related subfamily, beta member 1

mRNA:increased expression:aorta, arteries (rat)

RGD

NCBI chr 3:64,856,636...65,285,643
Ensembl chr 3:64,856,617...65,285,644

G

potassium inwardly-rectifying channel, subfamily J, member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:32,283,714...32,310,493
Ensembl chr 9:32,283,789...32,310,493

G

potassium inwardly rectifying channel, subfamily J, member 11

RGD

NCBI chr 7:45,746,545...45,750,215
Ensembl chr 7:45,743,377...45,750,188

G

potassium inwardly-rectifying channel, subfamily J, member 8

RGD

NCBI chr 6:142,510,563...142,517,340
Ensembl chr 6:142,510,563...142,517,340

G

potassium large conductance calcium-activated channel, subfamily M, beta member 1

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

CTD
RGD

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

RGD:1581718, RGD:10412046, RGD:1298970

NCBI chr11:33,912,955...33,923,641
Ensembl chr11:33,913,013...33,923,641

G

potassium intermediate/small conductance 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)

RGD

PMID:26502942 PMID:25715999 PMID:24524604

RGD:329955577, RGD:401794570, RGD:401794566

NCBI chr 7:24,069,750...24,084,635
Ensembl chr 7:24,069,688...24,086,115

G

potassium voltage-gated channel, subfamily Q, member 1

DNA:deletion:exon (rat)

RGD

NCBI chr 7:142,660,614...142,980,787
Ensembl chr 7:142,660,099...142,980,779

G

kinase insert domain protein receptor

treatment

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

RGD

PMID:15838270 PMID:20630084

RGD:5684418, RGD:8552374

NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118

G

kinesin family member 6

susceptibility

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

RGD

NCBI chr17:49,922,121...50,216,875
Ensembl chr17:49,922,164...50,216,875

G

klotho

treatment

mRNA,protein:decreased expression:kidney:

RGD

PMID:10892340 PMID:21051829 PMID:23225045

RGD:1581732, RGD:10403063, RGD:10403062

NCBI chr 5:150,876,072...150,917,282
Ensembl chr 5:150,876,072...150,917,282

G

kallikrein 1

susceptibility
no_association

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

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

RGD:1581751 RGD:1641795, RGD:1358144

NCBI chr 7:43,874,784...43,879,046
Ensembl chr 7:43,874,784...43,879,042

G

kallikrein 1-related peptidase b3

RGD

NCBI chr 7:43,847,615...43,851,775
Ensembl chr 7:43,847,615...43,851,776

G

kallikrein B, plasma 1

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

RGD

NCBI chr 8:45,719,725...45,747,872
Ensembl chr 8:45,719,726...45,747,896

G

kininogen 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:22,876,970...22,900,828
Ensembl chr16:22,876,615...22,900,828

G

Kirsten rat sarcoma viral oncogene homolog

RGD

NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965

G

kynureninase

RGD

NCBI chr 2:43,445,270...43,572,734
Ensembl chr 2:43,445,341...43,572,734

G

lactate dehydrogenase A

treatment

RGD

NCBI chr 7:46,491,698...46,505,051
Ensembl chr 7:46,490,899...46,505,051

G

leptin

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

CTD
RGD

PMID:12050272 PMID:16827954 PMID:25205467 PMID:27226618 PMID:19204185 More...

RGD:5128788, RGD:5128597

NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876

G

leptin receptor

disease_progression

DNA:polymorphisms:exons
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:22949526 PMID:10999797 PMID:27465994

RGD:5129161, RGD:12911217

NCBI chr 4:101,574,393...101,676,375
Ensembl chr 4:101,574,601...101,672,549

G

lectin, galactose binding, soluble 3

treatment

RGD

NCBI chr14:47,611,317...47,623,624
Ensembl chr14:47,605,208...47,623,617

G

luteinizing hormone beta

CTD Direct Evidence: marker/mechanism

NCBI chr 7:45,070,370...45,071,278
Ensembl chr 7:45,070,244...45,071,321

G

lipase, hormone sensitive

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

RGD

NCBI chr 7:25,078,952...25,097,911
Ensembl chr 7:25,078,952...25,098,135

G

lipase, endothelial

RGD

NCBI chr18:75,072,393...75,095,380
Ensembl chr18:75,072,393...75,094,334

G

Cyp11b2 promoter

ClinVar Annotator: match by term: Aldosterone to renin ratio, increased

PMID:12213905 PMID:12788845 PMID:17003099

NCBI chr15:74,728,086...74,728,514

G

lysyl oxidase

RGD

NCBI chr18:52,649,132...52,662,939
Ensembl chr18:52,649,139...52,662,939

G

lipoprotein lipase

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:22228705 PMID:16132104

NCBI chr 8:69,333,207...69,359,584
Ensembl chr 8:69,333,143...69,360,100

G

low density lipoprotein receptor-related protein 2

protein:altered localization:apical plasma membrane

RGD

NCBI chr 2:69,254,679...69,416,373
Ensembl chr 2:69,254,684...69,416,409

G

lymphotoxin A

no_association

RGD

NCBI chr17:35,422,141...35,424,568
Ensembl chr17:35,422,141...35,424,327

G

lactotransferrin

CTD Direct Evidence: therapeutic

NCBI chr 9:110,848,360...110,871,834
Ensembl chr 9:110,848,339...110,871,835

G

microtubule-associated protein 1 light chain 3 alpha

RGD

NCBI chr 2:155,118,284...155,119,993
Ensembl chr 2:155,118,217...155,119,993

G

mitogen-activated protein kinase 8

RGD

NCBI chr14:33,099,855...33,169,213
Ensembl chr14:33,099,855...33,169,115

G

MAS1 oncogene

associated with Sleep Apnea Syndromes

RGD

NCBI chr17:13,056,981...13,087,037
Ensembl chr17:13,059,966...13,087,030

G

melanocortin 2 receptor

CTD Direct Evidence: marker/mechanism

NCBI chr18:68,539,970...68,562,391
Ensembl chr18:68,539,978...68,562,391

G

mast cell protease 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:56,255,421...56,257,848
Ensembl chr14:56,255,428...56,257,841

G

malate dehydrogenase 1, NAD (soluble)

CTD Direct Evidence: marker/mechanism

NCBI chr11:21,506,692...21,521,934
Ensembl chr11:21,506,692...21,522,367

G

mitofusin 2

treatment

protein:decreased expression:aorta (rat)

RGD

PMID:27847271 PMID:25464244

RGD:12910764, RGD:13204764

NCBI chr 4:147,958,043...147,989,527
Ensembl chr 4:147,958,056...147,989,161

G

macrophage migration inhibitory factor (glycosylation-inhibiting factor)

RGD

NCBI chr10:75,695,187...75,696,111
Ensembl chr10:75,695,187...75,696,074

G

microRNA 145a

miRNA:increased expression:artery wall (human)

RGD

NCBI chr18:61,780,896...61,780,965
Ensembl chr18:61,780,896...61,780,965

G

microRNA 214

treatment

RNA:increased expression:kidney

PMID:30049682 PMID:30049682

RGD:38500245, RGD:38500245

NCBI chr 1:162,050,937...162,051,046
Ensembl chr 1:162,050,937...162,051,046

G

membrane metallo endopeptidase

treatment

RGD

NCBI chr 3:63,202,632...63,291,134
Ensembl chr 3:63,148,958...63,293,451

G

matrix metallopeptidase 1a (interstitial collagenase)

protein:decreased expression:renal glomerulus (human)

RGD

PMID:15363819 PMID:19506087

RGD:1582532, RGD:2312464

NCBI chr 9:7,464,141...7,476,870
Ensembl chr 9:7,464,141...7,476,857

G

matrix metallopeptidase 1b (interstitial collagenase)

protein:decreased expression:renal glomerulus (human)

PMID:15363819 PMID:19506087

RGD:1582532 RGD:2312464

NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047

G

matrix metallopeptidase 2

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

CTD
RGD

PMID:18836702 PMID:17977875 PMID:16840178

RGD:2290351, RGD:1582612

NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048

G

matrix metallopeptidase 7

treatment

RGD

PMID:19398663 PMID:19398663

RGD:9685347, RGD:9685347

NCBI chr 9:7,692,095...7,699,587
Ensembl chr 9:7,692,091...7,699,587

G

matrix metallopeptidase 9

susceptibility

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

CTD
RGD

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

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

NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770

G

Mov10 RISC complex RNA helicase

susceptibility

DNA:SNP: :rs2932538(human)

RGD

NCBI chr 3:104,702,144...104,725,935
Ensembl chr 3:104,702,152...104,725,879

G

monooxygenase, DBH-like 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:40,855,728...40,864,428
Ensembl chr 6:40,855,728...40,864,428

G

msh homeobox 2

RGD

NCBI chr13:53,620,917...53,626,816
Ensembl chr13:53,620,920...53,627,110

G

mechanistic target of rapamycin kinase

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

CTD
RGD

PMID:19289642 PMID:23323219

NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140

G

myotrophin

RGD

PMID:12419325 PMID:12031792

RGD:632799, RGD:1581046

NCBI chr 6:35,485,759...35,516,823
Ensembl chr 6:35,485,841...35,516,823

G

5-methyltetrahydrofolate-homocysteine methyltransferase

RGD

NCBI chr13:12,196,217...12,273,090
Ensembl chr13:12,197,598...12,272,999

G

microsomal triglyceride transfer protein

onset

DNA:polymorphism:promoter:-493G>T

RGD

NCBI chr 3:137,795,616...137,849,179
Ensembl chr 3:137,795,615...137,850,729

G

myosin binding protein H

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

RGD

NCBI chr 1:134,121,159...134,128,975
Ensembl chr 1:134,121,186...134,128,970

G

myeloid differentiation primary response gene 88

CTD Direct Evidence: marker/mechanism

NCBI chr 9:119,165,000...119,169,084
Ensembl chr 9:119,165,000...119,170,477

G

myosin, heavy polypeptide 7, cardiac muscle, beta

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

CTD
RGD

PMID:32147540 PMID:9686760

NCBI chr14:55,208,141...55,232,083
Ensembl chr14:55,208,141...55,232,083

G

myosin VI

protein:altered localization:renal proximal tubule, microvillus

RGD

NCBI chr 9:80,072,262...80,219,011
Ensembl chr 9:80,072,313...80,219,011

G

myogenic differentiation 1

mRNA:decreased expression:gastrocnemius

RGD

NCBI chr 7:46,025,898...46,028,516
Ensembl chr 7:46,025,898...46,028,523

G

neutrophil cytosolic factor 1

CTD Direct Evidence: marker/mechanism

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

NCBI chr 5:134,248,907...134,258,479
Ensembl chr 5:134,248,907...134,258,479

G

neutrophil cytosolic factor 2

protein:increased expression:heart left ventricle

RGD

NCBI chr 1:152,675,904...152,712,743
Ensembl chr 1:152,675,945...152,712,742

G

neural precursor cell expressed, developmentally down-regulated gene 4-like

CTD Direct Evidence: marker/mechanism

PMID:18524855 PMID:23348737

NCBI chr18:65,017,551...65,350,888
Ensembl chr18:65,020,776...65,350,899

G

nuclear factor, erythroid derived 2, like 2

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:32165127 PMID:23775684 PMID:23528973

RGD:10412717, RGD:401793732

NCBI chr 2:75,505,860...75,535,007
Ensembl chr 2:75,505,857...75,534,985

G

nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha

treatment

RGD

NCBI chr12:55,536,194...55,539,432
Ensembl chr12:55,536,195...55,539,432

G

nerve growth factor

RGD

NCBI chr 3:102,377,235...102,428,329
Ensembl chr 3:102,377,235...102,428,329

G

nerve growth factor receptor (TNFR superfamily, member 16)

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

RGD

NCBI chr11:95,459,644...95,478,524
Ensembl chr11:95,459,644...95,478,561

G

NHERF family PDZ scaffold protein 1

RGD

NCBI chr11:115,054,138...115,072,009
Ensembl chr11:115,054,167...115,072,007

G

NHERF family PDZ scaffold protein 2

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:22228705 PMID:15311100

NCBI chr17:24,858,255...24,869,279
Ensembl chr17:24,858,260...24,869,301

G

nischarin

RGD

NCBI chr14:30,892,885...30,928,783
Ensembl chr14:30,892,887...30,938,903

G

nitric oxide synthase 1, neuronal

treatment

mRNA:decreased expression:bladder, penis

RGD

PMID:20494920 PMID:31489946 PMID:23201071 PMID:15913838 PMID:16093913 More...

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

NCBI chr 5:118,004,904...118,096,905
Ensembl chr 5:117,919,097...118,096,905

G

nitric oxide synthase 2, inducible

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

CTD
RGD

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

RGD:1298023, RGD:1580264

NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080

G

nitric oxide synthase 3, endothelial cell

treatment
no_association

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

CTD
RGD

PMID:11457755 PMID:12947532 PMID:16331104 PMID:19008412 PMID:19407804 More...

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

NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472

G

NADPH oxidase 1

ameliorates

RGD

NCBI chr X:132,987,170...133,038,455
Ensembl chr X:132,987,170...133,122,705

G

NADPH oxidase 4

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

CTD
RGD

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

RGD:2324669, RGD:11085830

NCBI chr 7:86,893,638...87,047,918
Ensembl chr 7:86,895,304...87,047,918

G

nephronophthisis 3 (adolescent)

associated with nephronophthisis;

RGD

NCBI chr 9:103,879,743...103,921,010
Ensembl chr 9:103,879,743...103,921,017

G

natriuretic peptide type A

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

CTD
MouseDO
RGD

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

NCBI chr 4:148,085,179...148,086,531
Ensembl chr 4:148,085,179...148,086,536

G

natriuretic peptide type B

treatment
susceptibility

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

CTD
RGD

PMID:9194512 PMID:19219041 PMID:24039778 PMID:30310171 PMID:32147540 More...

RGD:70484, RGD:5685657, RGD:1642191

NCBI chr 4:148,070,264...148,071,662
Ensembl chr 4:148,070,245...148,071,662

G

natriuretic peptide type C

severity

associated with Pregnancy Complications;protein:increased expression:plasma

RGD

PMID:11775888 PMID:12452325

RGD:1642292, RGD:1580150

NCBI chr 1:86,594,015...86,598,295
Ensembl chr 1:86,594,013...86,598,293

G

natriuretic peptide receptor 1

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

CTD
RGD

PMID:20881240 PMID:12511524

NCBI chr 3:90,357,898...90,373,235
Ensembl chr 3:90,357,898...90,373,173

G

natriuretic peptide receptor 3

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

RGD

NCBI chr15:11,839,982...11,907,287
Ensembl chr15:11,839,982...11,907,373

G

neuroplastin

CTD Direct Evidence: marker/mechanism

NCBI chr 9:58,489,504...58,560,162
Ensembl chr 9:58,489,523...58,565,238

G

neuropeptide Y

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

RGD

PMID:15699473 PMID:18835922 PMID:11689216

RGD:1357410, RGD:10448968, RGD:1580177

NCBI chr 6:49,799,690...49,806,487
Ensembl chr 6:49,799,690...49,806,487

G

neuropeptide Y receptor Y1

RGD

NCBI chr 8:67,149,595...67,159,452
Ensembl chr 8:67,149,844...67,159,444

G

NAD(P)H dehydrogenase, quinone 1

treatment
susceptibility

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

PMID:25529925 PMID:21502369

RGD:401827819, RGD:11035215

NCBI chr 8:108,114,856...108,139,012
Ensembl chr 8:108,114,857...108,129,838

G

nuclear receptor subfamily 2, group F, member 2

RGD

NCBI chr 7:70,001,694...70,016,494
Ensembl chr 7:70,001,692...70,016,483

G

nuclear receptor subfamily 3, group C, member 1

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

CTD
RGD

PMID:18434569 PMID:20659135 PMID:20674672 PMID:20659135

RGD:4892208, RGD:7174714

NCBI chr18:39,543,598...39,652,485
Ensembl chr18:39,543,598...39,652,474

G

nudix hydrolase 1

RGD

NCBI chr 5:140,307,375...140,323,892
Ensembl chr 5:140,307,411...140,323,892

G

8-oxoguanine DNA-glycosylase 1

susceptibility

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

NCBI chr 6:113,303,959...113,311,149
Ensembl chr 6:113,303,933...113,312,029

G

oxidized low density lipoprotein (lectin-like) receptor 1

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

CTD
RGD

PMID:22352330 PMID:9494115

NCBI chr 6:129,456,113...129,484,312
Ensembl chr 6:129,462,207...129,484,128

G

OPA1, mitochondrial dynamin like GTPase

protein:increased expression:heart left ventricle (rat)

RGD

NCBI chr16:29,398,099...29,481,924
Ensembl chr16:29,398,152...29,473,702

G

ORAI calcium release-activated calcium modulator 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:123,153,078...123,168,515
Ensembl chr 5:123,153,137...123,168,519

G

oxidative-stress responsive 1

CTD Direct Evidence: therapeutic

NCBI chr 9:119,067,498...119,154,475
Ensembl chr 9:119,067,498...119,151,493

G

oxytocin

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

CTD
RGD

PMID:9334988 PMID:18562099 PMID:18562099 PMID:16157794

RGD:2304105, RGD:2304174

NCBI chr 2:130,416,432...130,418,974
Ensembl chr 2:130,418,093...130,418,974

G

oxytocin receptor

mRNA:decreased expression:brainstem

RGD

NCBI chr 6:112,450,646...112,467,800
Ensembl chr 6:112,450,644...112,466,904

G

pregnancy-associated plasma protein A

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

RGD

NCBI chr 4:65,041,993...65,276,776
Ensembl chr 4:65,042,411...65,275,746

G

platelet derived growth factor, B polypeptide

RGD

NCBI chr15:79,880,066...79,899,178
Ensembl chr15:79,880,075...79,899,178

G

platelet derived growth factor receptor, alpha polypeptide

RGD

NCBI chr 5:75,311,988...75,358,867
Ensembl chr 5:75,312,953...75,358,876

G

platelet derived growth factor receptor, beta polypeptide

protein:increased tyrosine phosphorylation:glomerulus

RGD

PMID:12047046 PMID:1657776

RGD:2292214, RGD:11080972

NCBI chr18:61,178,194...61,218,139
Ensembl chr18:61,178,222...61,218,133

G

placental growth factor

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

RGD

NCBI chr12:85,213,413...85,224,087
Ensembl chr12:85,213,409...85,224,564

G

phosphoinositide-3-kinase regulatory subunit 1

protein:decreased expression:ventricular myocyte (rat)

RGD

PMID:18300869 PMID:19015400

RGD:4108492, RGD:4108483

NCBI chr13:101,817,269...101,904,725
Ensembl chr13:101,817,071...101,904,725

G

peptidyl-prolyl cis/trans isomerase, NIMA-interacting 1

RGD

NCBI chr 9:20,563,335...20,575,008
Ensembl chr 9:20,563,391...20,577,880

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 chr17:24,767,657...24,815,457
Ensembl chr17:24,768,808...24,815,482

G

pyruvate kinase, muscle

treatment

RGD

NCBI chr 9:59,563,859...59,586,655
Ensembl chr 9:59,563,651...59,586,658

G

plasminogen activator, tissue

CTD Direct Evidence: marker/mechanism

NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860

G

phospholipase C, delta 1

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

RGD

PMID:1313006 PMID:17198910

RGD:2300423, RGD:2300421

NCBI chr 9:118,900,595...118,922,570
Ensembl chr 9:118,900,595...118,922,570

G

pleckstrin homology domain containing, family A member 7

ameliorates

RGD

NCBI chr 7:115,722,722...115,907,617
Ensembl chr 7:115,722,720...115,907,611

G

plasminogen

CTD Direct Evidence: marker/mechanism

NCBI chr17:12,597,496...12,638,271
Ensembl chr17:12,597,495...12,638,272

G

phenylethanolamine-N-methyltransferase

no_association

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

RGD

PMID:17645789 PMID:20378607 PMID:14553966

RGD:5130172, RGD:5130152, RGD:5130164

NCBI chr11:98,277,449...98,279,006
Ensembl chr11:98,277,276...98,279,007

G

pro-opiomelanocortin-alpha

CTD Direct Evidence: marker/mechanism|therapeutic

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

NCBI chr12:4,004,945...4,010,643
Ensembl chr12:4,004,951...4,010,642

G

paraoxonase 1

DNA:SNP: :rs705379 (human)

RGD

NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946

G

periostin, osteoblast specific factor

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

RGD

NCBI chr 3:54,266,688...54,298,462
Ensembl chr 3:54,268,530...54,298,458

G

peroxisome proliferator activated receptor alpha

treatment

mRNA:increased expression:skeletal muscle
CTD Direct Evidence: marker/mechanism|therapeutic

CTD
RGD

PMID:16054168 PMID:19834340 PMID:19763017 PMID:31489946 PMID:15967866

RGD:2313778, RGD:401793758, RGD:1580222

NCBI chr15:85,619,112...85,691,052
Ensembl chr15:85,619,184...85,687,020

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)

CTD
RGD

PMID:15199296 PMID:19666838 PMID:27292124 PMID:18316027 PMID:20404217 More...

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

NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360

G

pro-platelet basic protein

CTD Direct Evidence: marker/mechanism

PMID:6192689 PMID:15513305

NCBI chr 5:90,916,377...90,917,922
Ensembl chr 5:90,916,377...90,917,922

G

peptidylprolyl isomerase A

mRNA:increased expression:alveolar system (human)

NCBI chr11:6,365,867...6,369,817
Ensembl chr11:6,365,443...6,369,817

G

protein kinase, AMP-activated, gamma 2 non-catalytic subunit

ClinVar Annotator: match by term: Hypertension

PMID:25741868 PMID:28492532

NCBI chr 5:25,067,733...25,311,576
Ensembl chr 5:25,067,742...25,305,640

G

protein kinase, cAMP dependent regulatory, type I beta

RGD

NCBI chr 5:139,003,059...139,136,458
Ensembl chr 5:139,003,061...139,135,756

G

protein kinase C, alpha

RGD

NCBI chr11:107,824,213...108,237,360
Ensembl chr11:107,824,213...108,234,754

G

protein kinase C, beta

RGD

NCBI chr 7:121,888,327...122,233,625
Ensembl chr 7:121,887,974...122,233,625

G

protein kinase C, delta

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

CTD
RGD

PMID:23973649 PMID:10756122 PMID:15792354

RGD:1642534, RGD:1581271

NCBI chr14:30,317,310...30,348,637
Ensembl chr14:30,317,311...30,348,167

G

protein kinase C, epsilon

RGD

NCBI chr17:86,472,631...86,965,347
Ensembl chr17:86,475,213...86,965,347

G

protein kinase, cGMP-dependent, type I

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

RGD

NCBI chr19:30,541,887...31,742,675
Ensembl chr19:30,541,889...31,742,433

G

prolactin releasing hormone receptor

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

RGD

NCBI chr19:60,454,079...60,457,907
Ensembl chr19:60,455,170...60,456,742

G

protein C

CTD Direct Evidence: marker/mechanism

NCBI chr18:32,256,179...32,272,623
Ensembl chr18:32,256,179...32,272,623

G

phosphatase and tensin homolog

CTD Direct Evidence: marker/mechanism

NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560

G

prostaglandin D2 synthase (brain)

protein:increased expression:serum, urine

RGD

NCBI chr 2:25,356,723...25,360,080
Ensembl chr 2:25,356,721...25,360,058

G

prostaglandin I2 (prostacyclin) 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)

RGD

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

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

NCBI chr 2:167,045,114...167,095,069
Ensembl chr 2:167,033,725...167,082,524

G

prostaglandin reductase 1

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

RGD

NCBI chr 4:58,965,590...58,987,131
Ensembl chr 4:58,965,439...58,987,119

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism|therapeutic

CTD
RGD

PMID:14757778 PMID:15834289 PMID:20667508 PMID:22349312 PMID:15775781 More...

RGD:1581285, RGD:1580671

NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978

G

parathyroid hormone

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

CTD
RGD

PMID:1930854 PMID:23460043

NCBI chr 7:112,984,783...112,987,879
Ensembl chr 7:112,984,787...112,987,777

G

PTK2 protein tyrosine kinase 2

protein:increased expression:aorta

RGD

PMID:12732587 PMID:21068519

RGD:729831, RGD:10041072

NCBI chr15:73,076,951...73,297,192
Ensembl chr15:73,076,951...73,295,129

G

PTK2 protein tyrosine kinase 2 beta

susceptibility

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

RGD

PMID:18075463 PMID:21068519

RGD:2292575, RGD:10041072

NCBI chr14:66,390,706...66,518,549
Ensembl chr14:66,390,706...66,518,501

G

protein tyrosine phosphatase, non-receptor type 1

treatment

CTD Direct Evidence: therapeutic
associated with obesity

CTD
RGD

PMID:28899902 PMID:29859467 PMID:29562733

RGD:401976391, RGD:401976390

NCBI chr 2:167,772,670...167,821,305
Ensembl chr 2:167,773,977...167,821,305

G

protein tyrosine phosphatase receptor type C

ameliorates

associated with Cardiac Fibrosis

RGD

NCBI chr 1:137,990,601...138,103,491
Ensembl chr 1:137,990,599...138,103,446

G

protein tyrosine phosphatase receptor type D

treatment

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

RGD

NCBI chr 4:75,859,474...78,132,282
Ensembl chr 4:75,859,475...78,130,198

G

protein tyrosine phosphatase receptor type J

RGD

NCBI chr 2:90,260,100...90,411,102
Ensembl chr 2:90,260,098...90,410,991

G

protein tyrosine phosphatase receptor type U

susceptibility

RGD

NCBI chr 4:131,495,768...131,565,617
Ensembl chr 4:131,495,768...131,565,599

G

quinoid dihydropteridine reductase

protein:decreased expression:aorta smooth muscle (rat)

RGD

NCBI chr 5:45,591,374...45,607,571
Ensembl chr 5:45,591,363...45,607,578

G

RAD51 recombinase

treatment

RGD

NCBI chr 2:118,943,295...118,966,554
Ensembl chr 2:118,943,274...118,977,926

G

recombination activating 1

RGD

NCBI chr 2:101,468,597...101,479,877
Ensembl chr 2:101,468,627...101,479,846

G

ralA binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:66,155,410...66,192,750
Ensembl chr17:66,155,413...66,192,793

G

receptor (calcitonin) activity modifying protein 2

susceptibility

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

RGD

PMID:15797661 PMID:16450076 PMID:11600589

RGD:1642679, RGD:1625300, RGD:1642682

NCBI chr11:101,137,160...101,139,076
Ensembl chr11:101,136,854...101,150,372

G

RAS, guanyl releasing protein 3

RGD

NCBI chr17:75,742,849...75,836,049
Ensembl chr17:75,742,891...75,836,049

G

RNA binding protein, fox-1 homolog (C. elegans) 2

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

RGD

NCBI chr15:76,963,190...77,193,058
Ensembl chr15:76,963,190...77,191,204

G

retinol binding protein 4, plasma

sexual_dimorphism
ameliorates

protein:increased expression:blood serum (human)

RGD

PMID:20798476 PMID:21365528 PMID:25911613

RGD:329845596, RGD:329853304, RGD:329845871

NCBI chr19:38,105,068...38,113,769
Ensembl chr19:38,105,077...38,113,729

G

regenerating islet-derived 3 gamma

CTD Direct Evidence: marker/mechanism

NCBI chr 6:78,443,252...78,445,857
Ensembl chr 6:78,443,252...78,445,855

G

v-rel reticuloendotheliosis viral oncogene homolog A (avian)

CTD Direct Evidence: marker/mechanism

CTD
RGD

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

NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158

G

renin 1 structural

treatment

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

CTD
RGD

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

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

NCBI chr 1:133,278,412...133,288,058
Ensembl chr 1:133,278,248...133,288,063

G

renin 2 tandem duplication of Ren1

CTD Direct Evidence: marker/mechanism

PMID:9595497 PMID:9869009 PMID:12512695 PMID:12586211

G

regulated endocrine-specific protein 18

RGD

NCBI chr 1:75,248,841...75,255,059
Ensembl chr 1:75,248,843...75,255,059

G

resistin

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

RGD

NCBI chr 8:3,705,770...3,709,818
Ensembl chr 8:3,705,770...3,710,110

G

ring finger and FYVE like domain containing protein

mRNA,protein:increased expression:heart

RGD

NCBI chr11:82,694,645...82,762,065
Ensembl chr11:82,693,275...82,762,036

G

regulator of G-protein signaling 2

CTD Direct Evidence: therapeutic

CTD
RGD

PMID:1798635 PMID:14608379 PMID:17986358

RGD:13524579, RGD:2289116

NCBI chr 1:143,875,076...143,879,887
Ensembl chr 1:143,875,076...143,879,899

G

regulator of G-protein signaling 4

treatment

RGD

NCBI chr 1:169,569,046...169,575,211
Ensembl chr 1:169,569,046...169,575,211

G

regulator of G-protein signaling 5

treatment

CTD Direct Evidence: therapeutic

CTD
RGD

PMID:1798635 PMID:21825230

NCBI chr 1:169,483,070...169,523,367
Ensembl chr 1:169,483,070...169,523,382

G

ras homolog family member A

protein:altered localization:mesenteric artery

RGD

NCBI chr 9:108,183,359...108,215,142
Ensembl chr 9:108,183,328...108,215,133

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)

RGD

PMID:21964580 PMID:21178975 PMID:21617193

RGD:7327172, RGD:7327174, RGD:7327173

NCBI chr19:33,115,140...33,369,695
Ensembl chr19:33,115,147...33,369,665

G

arginyl aminopeptidase (aminopeptidase B)

protein:increased expression:adrenal gland, neurohypophysis

RGD

PMID:9660082 PMID:3001599

RGD:2325942, RGD:2325950

NCBI chr 1:135,190,447...135,211,765
Ensembl chr 1:135,190,450...135,211,822

G

ribosomal protein S6 kinase, polypeptide 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:86,389,695...86,435,711
Ensembl chr11:86,389,697...86,435,631

G

S100 protein, beta polypeptide, neural

protein:increased expression:serum

RGD

NCBI chr10:76,089,670...76,097,153
Ensembl chr10:76,089,687...76,096,993

G

sphingosine-1-phosphate receptor 1

disease_progression

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

RGD

NCBI chr 3:115,504,082...115,508,704
Ensembl chr 3:115,504,082...115,508,721

G

sodium channel, nonvoltage-gated 1 alpha

CTD Direct Evidence: marker/mechanism

PMID:11752024 PMID:23348737

NCBI chr 6:125,286,657...125,321,906
Ensembl chr 6:125,297,622...125,321,906

G

sodium channel, nonvoltage-gated 1 beta

CTD Direct Evidence: marker/mechanism

PMID:15174897 PMID:15198480 PMID:19344079

NCBI chr 7:121,464,261...121,517,951
Ensembl chr 7:121,464,261...121,517,737

G

sodium channel, nonvoltage-gated 1 gamma

CTD Direct Evidence: marker/mechanism

NCBI chr 7:121,333,643...121,367,705
Ensembl chr 7:121,333,702...121,367,698

G

selectin, platelet

CTD Direct Evidence: marker/mechanism

NCBI chr 1:163,942,833...163,977,595
Ensembl chr 1:163,942,833...163,977,595

G

serine (or cysteine) peptidase inhibitor, clade E, member 1

treatment

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

CTD
RGD

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

RGD:8547753, RGD:28912746, RGD:11081003

NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122

G

serine (or cysteine) peptidase inhibitor, clade E, member 2

mRNA, protein:increased expression:blood vessel

RGD

NCBI chr 1:79,772,038...79,836,382
Ensembl chr 1:79,771,914...79,838,897

G

serine (or cysteine) peptidase inhibitor, clade F, member 2

RGD

NCBI chr11:75,322,562...75,330,327
Ensembl chr11:75,322,558...75,330,417

G

serum/glucocorticoid regulated kinase 1

no_association
susceptibility

DNA:snps:exon, intron: (human)

RGD

PMID:15304560 PMID:16221215

RGD:1580969, RGD:1580968

NCBI chr10:21,758,083...21,875,802
Ensembl chr10:21,758,083...21,875,802

G

SH2B adaptor protein 3

RGD

NCBI chr 5:121,953,544...121,975,706
Ensembl chr 5:121,953,551...121,975,709

G

sirtuin 6

exacerbates

RGD

NCBI chr10:81,457,621...81,463,631
Ensembl chr10:81,457,619...81,463,631

G

solute carrier family 12, member 2

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

CTD
RGD

PMID:17259435 PMID:15020309 PMID:21814290

RGD:1580582, RGD:9587757

NCBI chr18:58,011,505...58,079,893
Ensembl chr18:58,011,750...58,079,893

G

solute carrier family 12, member 3

CTD Direct Evidence: marker/mechanism

NCBI chr 8:95,055,737...95,092,850
Ensembl chr 8:95,055,829...95,092,842

G

solute carrier family 26, member 4

RGD

NCBI chr12:31,569,813...31,610,054
Ensembl chr12:31,569,826...31,609,968

G

solute carrier family 2 (facilitated glucose transporter), member 1

protein:increased expression:renal glomerulus

RGD

NCBI chr 4:118,966,001...118,994,527
Ensembl chr 4:118,965,908...118,995,180

G

solute carrier family 2 (facilitated glucose transporter), member 3

RGD

NCBI chr 6:122,704,783...122,779,149
Ensembl chr 6:122,704,768...122,778,599

G

solute carrier family 4 (anion exchanger), member 4

protein:increased expression:kidney cortex

RGD

NCBI chr 5:88,941,717...89,387,515
Ensembl chr 5:89,034,345...89,387,512

G

solute carrier family 5 (sodium/glucose cotransporter), member 2

RGD

NCBI chr 7:127,864,855...127,871,602
Ensembl chr 7:127,864,829...127,871,602

G

solute carrier family 6 (neurotransmitter transporter), member 18

CTD Direct Evidence: marker/mechanism

NCBI chr13:73,809,869...73,826,142
Ensembl chr13:73,809,871...73,826,142

G

solute carrier family 6 (neurotransmitter transporter), member 19

mRNA:increased expression

NCBI chr13:73,827,864...73,848,899
Ensembl chr13:73,827,864...73,852,984

G

solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2

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

CTD
RGD

PMID:22533655 PMID:17124432

NCBI chr 8:93,687,100...93,728,295
Ensembl chr 8:93,686,707...93,728,295

G

solute carrier family 6 (neurotransmitter transporter, dopamine), member 3

protein:increased expression:caudate-putamen

RGD

NCBI chr13:73,684,270...73,726,791
Ensembl chr13:73,684,866...73,726,791

G

solute carrier family 8 (sodium/calcium exchanger), member 1

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

RGD

PMID:16343576 PMID:15824464 PMID:15785003

RGD:1598724, RGD:1580586, RGD:1580732

NCBI chr17:81,680,534...82,045,816
Ensembl chr17:81,680,534...82,045,806

G

solute carrier family 9 (sodium/hydrogen exchanger), member 3

RGD

NCBI chr13:74,234,374...74,317,561
Ensembl chr13:74,269,576...74,317,561

G

superoxide dismutase 1, soluble

treatment

associated with Hydronephrosis
CTD Direct Evidence: marker/mechanism|therapeutic
human gene in a rat model
mRNA:decreased expression:rostral ventrolateral medulla (rat)

CTD
RGD

PMID:9024144 PMID:25101153 PMID:32165127 PMID:19403858 PMID:31572179 More...

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

NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217

G

superoxide dismutase 2, mitochondrial

CTD Direct Evidence: marker/mechanism

CTD
RGD

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

NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950

G

superoxide dismutase 3, extracellular

CTD Direct Evidence: marker/mechanism|therapeutic

CTD
RGD

PMID:16864745 PMID:17023265 PMID:12600899 PMID:16864745

RGD:1580845, RGD:1581232

NCBI chr 5:52,521,146...52,527,080
Ensembl chr 5:52,521,133...52,528,760

G

sequestosome 1

protein:decreased expression:brain

RGD

NCBI chr11:50,090,979...50,105,303
Ensembl chr11:50,090,193...50,101,654

G

Rous sarcoma oncogene

RGD

NCBI chr 2:157,265,828...157,313,758
Ensembl chr 2:157,260,364...157,313,782

G

serum response factor

RGD

NCBI chr17:46,857,764...46,869,194
Ensembl chr17:46,859,255...46,867,101

G

somatostatin

protein:altered expression:stomach

RGD

NCBI chr16:23,708,327...23,710,041
Ensembl chr16:23,708,323...23,709,708

G

stromal interaction molecule 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:101,909,279...102,086,525
Ensembl chr 7:101,917,013...102,086,526

G

serine/threonine kinase 11

CTD Direct Evidence: marker/mechanism

NCBI chr10:79,951,602...79,966,513
Ensembl chr10:79,951,637...79,966,516

G

serine/threonine kinase 39

CTD Direct Evidence: therapeutic

NCBI chr 2:68,040,789...68,302,381
Ensembl chr 2:68,040,789...68,302,612

G

steroid sulfatase

protein:increased expression:multiple organs

RGD

NCBI chr X:168,856,332...169,015,037
Ensembl chr X:168,909,030...169,014,924

G

tachykinin 2

protein:increased expression:supraoptic nucleus, medulla oblongata

RGD

NCBI chr10:127,560,347...127,567,637
Ensembl chr10:127,560,347...127,567,637

G

tachykinin receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:82,378,990...82,537,085
Ensembl chr 6:82,379,315...82,537,085

G

tachykinin receptor 3

RGD

NCBI chr 3:134,534,768...134,640,342
Ensembl chr 3:134,534,768...134,640,340

G

thromboxane A synthase 1, platelet

associated with hyperinsulinism

RGD

PMID:9370383 PMID:16192456

RGD:1601472, RGD:1601439

NCBI chr 6:38,817,897...39,061,524
Ensembl chr 6:38,852,338...39,061,519

G

transforming growth factor, beta 1

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

CTD
RGD

PMID:11682445 PMID:19018797 PMID:17364610 PMID:26502942 PMID:11907153 More...

RGD:1601552, RGD:329955577, RGD:28912746, RGD:30296650, RGD:12879474, RGD:1331525

NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502

G

transforming growth factor, beta 3

no_association

DNA:polymorphism, SNPs

RGD

NCBI chr12:86,103,517...86,125,815
Ensembl chr12:86,103,519...86,125,815

G

transglutaminase 2, C polypeptide

CTD Direct Evidence: marker/mechanism

NCBI chr 2:157,958,325...157,988,312
Ensembl chr 2:157,958,322...157,988,356

G

tyrosine hydroxylase

susceptibility

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

CTD
RGD

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

RGD:1601630, RGD:1601631

NCBI chr 7:142,446,516...142,453,732
Ensembl chr 7:142,446,489...142,484,865

G

thrombomodulin

treatment

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

RGD

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

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

NCBI chr 2:148,246,391...148,250,108
Ensembl chr 2:148,246,386...148,250,108

G

tissue inhibitor of metalloproteinase 1

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

CTD
RGD

PMID:21051829 PMID:19506087 PMID:17977875

RGD:2312464, RGD:2290351

NCBI chr X:20,736,524...20,740,972
Ensembl chr X:20,736,405...20,740,974

G

tight junction protein 2

protein:decreased expression:brain

RGD

NCBI chr19:24,071,860...24,202,492
Ensembl chr19:24,071,869...24,202,394

G

toll-like receptor 4

CTD Direct Evidence: marker/mechanism

PMID:27292124 PMID:32147540

NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521

G

tumor necrosis factor

ameliorates
treatment

associated with Cardiac Fibrosis
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:18605955 PMID:27292124 PMID:27659729 PMID:27847271 PMID:32147540 More...

RGD:1357163, RGD:401794570, RGD:1580207

NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983

G

tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)

severity

protein:increased expression:serum

RGD

NCBI chr15:54,114,014...54,141,700
Ensembl chr15:54,114,015...54,141,880

G

tropomyosin 1, alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 9:66,929,872...66,956,954
Ensembl chr 9:66,929,872...66,956,688

G

transferrin

protein:decreased expression

RGD

NCBI chr 9:103,086,075...103,107,485
Ensembl chr 9:103,081,200...103,107,643

G

thyrotropin releasing hormone

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

CTD
RGD

PMID:6350720 PMID:17227965

NCBI chr 6:92,219,042...92,221,631
Ensembl chr 6:92,219,042...92,221,631

G

thyrotropin releasing hormone receptor

RGD

NCBI chr15:44,059,314...44,099,308
Ensembl chr15:44,059,531...44,099,308

G

transformation related protein 53

CTD Direct Evidence: marker/mechanism

NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699

G

transient receptor potential cation channel, subfamily C, member 3

CTD Direct Evidence: marker/mechanism

NCBI chr 3:36,674,626...36,744,276
Ensembl chr 3:36,674,631...36,744,316

G

transient receptor potential cation channel, subfamily C, member 5

CTD Direct Evidence: marker/mechanism

NCBI chr X:143,160,323...143,471,176
Ensembl chr X:143,164,667...143,471,176

G

urocortin

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

CTD
RGD

PMID:20237592 PMID:16915033

NCBI chr 5:31,295,333...31,296,239
Ensembl chr 5:31,295,407...31,296,173

G

urocortin 2

human protein in rat model

RGD

NCBI chr 9:108,815,231...108,816,232
Ensembl chr 9:108,815,078...108,816,232

G

uncoupling protein 1 (mitochondrial, proton carrier)

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

RGD

NCBI chr 8:84,016,977...84,025,085
Ensembl chr 8:84,016,981...84,025,081

G

uncoupling protein 2 (mitochondrial, proton carrier)

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16685210 PMID:15106800 PMID:20404217

RGD:1580794, RGD:7175297

NCBI chr 7:100,142,565...100,148,832
Ensembl chr 7:100,142,544...100,151,227

G

uncoupling protein 3 (mitochondrial, proton carrier)

RGD

NCBI chr 7:100,122,198...100,135,639
Ensembl chr 7:100,122,197...100,135,639

G

UDP-glucose ceramide glucosyltransferase

treatment

RGD

NCBI chr 4:59,189,452...59,222,833
Ensembl chr 4:59,189,257...59,222,833

G

uromodulin

CTD Direct Evidence: marker/mechanism

NCBI chr 7:119,061,931...119,078,485
Ensembl chr 7:119,061,934...119,078,505

G

urotensin 2

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

CTD
RGD

PMID:16160878 PMID:15201550 PMID:15201550

RGD:1580808, RGD:1580808

NCBI chr 4:151,081,554...151,086,267
Ensembl chr 4:151,081,554...151,086,267

G

urotensin 2 receptor

RGD

NCBI chr11:121,051,097...121,052,799
Ensembl chr11:121,051,097...121,052,799

G

vav 3 oncogene

CTD Direct Evidence: marker/mechanism

NCBI chr 3:109,247,757...109,593,010
Ensembl chr 3:109,247,969...109,593,014

G

vascular cell adhesion molecule 1

disease_progression

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

CTD
RGD

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

RGD:2313107, RGD:1643008, RGD:7241235

NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337

G

vitamin D (1,25-dihydroxyvitamin D3) receptor

CTD Direct Evidence: marker/mechanism

NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511

G

vascular endothelial growth factor A

treatment

associated with Prostatic Neoplasms

RGD

PMID:16164572 PMID:20630084

RGD:1580573, RGD:8552374

NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295

G

von Hippel-Lindau tumor suppressor

RGD

NCBI chr 6:113,600,955...113,608,595
Ensembl chr 6:113,600,920...113,608,594

G

Von Willebrand factor

treatment

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

CTD
RGD

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

NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642

G

WNK lysine deficient protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:119,900,930...120,015,659
Ensembl chr 6:119,900,930...120,015,633

G

WNK lysine deficient protein kinase 4

no_association

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:22949526 PMID:12642508

NCBI chr11:101,151,363...101,168,235
Ensembl chr11:101,151,393...101,168,235

G

xanthine dehydrogenase

treatment

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

RGD

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

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

NCBI chr17:74,190,890...74,257,191
Ensembl chr17:74,190,890...74,257,191

G

X-ray repair complementing defective repair in Chinese hamster cells 1

susceptibility

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

RGD

NCBI chr 7:24,246,124...24,272,863
Ensembl chr 7:24,245,714...24,272,865

G

X-ray repair complementing defective repair in Chinese hamster cells 3

susceptibility

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

NCBI chr12:111,769,626...111,780,326
Ensembl chr12:111,769,626...111,780,307

G

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

treatment

RGD

NCBI chr15:36,770,505...36,803,228
Ensembl chr15:36,771,014...36,797,173

angle-closure glaucoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

apolipoprotein E

susceptibility

DNA:polymorphism:exon:

RGD

NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113

G

catalase

severity

DNA:SNP:promoter:g.4760C>T(rs1001179)(human)

RGD

NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505

G

choline acetyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr14:32,130,160...32,187,866
Ensembl chr14:32,130,160...32,187,946

G

collagen, type XI, alpha 1

CTD Direct Evidence: marker/mechanism

PMID:22922875 PMID:27064256

NCBI chr 3:113,823,933...114,014,405
Ensembl chr 3:113,824,189...114,014,367

G

collagen, type XVIII, alpha 1

ClinVar Annotator: match by term: Glaucoma, primary closed-angle

PMID:12415512 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 More...

NCBI chr10:76,888,013...77,002,351
Ensembl chr10:76,888,012...77,002,382

G

endothelin 1

protein:increased expression:plasma (human)

RGD

NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466

G

ependymin related 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:19,775,878...19,804,000
Ensembl chr13:19,775,876...19,804,097

G

fermitin family member 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:45,696,252...45,767,767
Ensembl chr14:45,696,252...45,767,575

G

GLIS family zinc finger 3

CTD Direct Evidence: marker/mechanism

NCBI chr19:28,236,251...28,657,684
Ensembl chr19:28,236,251...28,657,477

G

glutathione S-transferase, mu 1

susceptibility

DNA:deletion, haplotype:cds (human)

RGD

NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289

G

hepatocyte growth factor

susceptibility

DNA:SNPs,haplotype::rs5745718,rs1742817(human)

RGD

NCBI chr 5:16,758,493...16,827,448
Ensembl chr 5:16,758,493...16,825,150

G

lysyl oxidase-like 1

no_association

DNA:SNPs: :rs1048661, rs2165241, rs3825942 (human)

RGD

NCBI chr 9:58,195,006...58,220,495
Ensembl chr 9:58,195,021...58,220,469

G

matrix metallopeptidase 9

no_association

DNA:SNP: :rs2664538 (human)
DNA:SNP:promoter:-1562C>T (human)
DNA:SNP: :c.836A>G (rs17576) (human)
DNA:SNPs: :rs17576, rs3918249 (human)

RGD

PMID:17110919 PMID:23441116 PMID:23441116 PMID:21655354

RGD:8547816, RGD:8549724, RGD:8549724, RGD:8547830

NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770

G

methylenetetrahydrofolate reductase

susceptibility

DNA:SNPs: :677C>T,1298A>C(human)

RGD

NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008

G

mucin 5, subtypes A and C, tracheobronchial/gastric

associated with Cataract;protein:decreased expression:tear

RGD

NCBI chr 7:141,342,695...141,372,964
Ensembl chr 7:141,342,709...141,372,968

G

nitric oxide synthase 3, endothelial cell

susceptibility

DNA:duplication:intron:IVS4?-?+27 (human)
DNA:snps:introns:g.IVS5+1182G>A, g.IVS25+11C>A (rs3793342, rs7830) (human)

RGD

PMID:20069064 PMID:23422825

RGD:7771573, RGD:7775046

NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472

G

pleckstrin homology domain containing, family A member 7

CTD Direct Evidence: marker/mechanism

PMID:22922875 PMID:27064256

NCBI chr 7:115,722,722...115,907,617
Ensembl chr 7:115,722,720...115,907,611

G

serine protease 56

CTD Direct Evidence: marker/mechanism

NCBI chr 1:87,111,002...87,116,127
Ensembl chr 1:87,111,035...87,116,127

G

SH3 and PX domains 2B

CTD Direct Evidence: marker/mechanism

NCBI chr11:32,297,777...32,378,189
Ensembl chr11:32,297,820...32,378,173

G

solute carrier family 19 (folate transporter), member 1

ClinVar Annotator: match by term: Glaucoma, primary closed-angle

PMID:12415512 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 More...

NCBI chr10:76,868,103...76,886,266
Ensembl chr10:76,868,075...76,896,836

G

transcription factor AP-2 beta

NCBI chr 1:19,279,132...19,309,071
Ensembl chr 1:19,279,138...19,308,800

anterior segment dysgenesis 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

forkhead box C1

ClinVar Annotator: match by term: Anterior segment dysgenesis 3 | ClinVar Annotator: match by term: Glaucoma iridogoniodysplasia, familial
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9620769 PMID:9792859 PMID:11007653 PMID:11170889 PMID:12036988 More...

NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459

anterior segment dysgenesis 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

paired-like homeodomain transcription factor 2

ClinVar Annotator: match by term: Anterior segment dysgenesis 4 | ClinVar Annotator: match by term: Iris hypoplasia with early onset glaucoma, autosomal dominant
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:7581385 PMID:8942889 PMID:9437321 PMID:9618168 PMID:10502778 More...

NCBI chr 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240

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)

RGD

NCBI chr 4:31,963,659...32,023,470
Ensembl chr 4:31,964,097...32,023,467

buphthalmos

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

atlastin GTPase 2

ClinVar Annotator: match by term: Congenital glaucoma

PMID:9097971 PMID:9497261 PMID:19234632 PMID:28492532 PMID:31251480

NCBI chr17:80,155,819...80,203,633
Ensembl chr17:80,155,819...80,203,552

G

cytochrome P450, family 1, subfamily b, polypeptide 1

susceptibility

ClinVar Annotator: match by term: Congenital glaucoma | ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A | ClinVar Annotator: match by term: Glaucoma, primary open angle, juvenile-onset
CTD Direct Evidence: marker/mechanism
OMIM:231300
DNA:missense mutation:cds:p.A388T (human)
DNA:missense mutation, deletion:exon:p.R390H, g.4633delC (human)
DNA:duplication:exon:g.1546-1555dupTCATGCCACC (human)
DNA:missense mutations:exons:p.G61E, p.R368H, p.D374N (human)
DNA:missense mutations:exons:p.G61E, p.R469W, p.R523K (human)
DNA:deletion, snp:exons:g.4339delG, p.G61E (human)
DNA:snp:cds:p.E387K (human)
DNA:polymorphisms:multiple (human)

OMIM
ClinVar
CTD
MouseDO
RGD

PMID:2782041 PMID:9097971 PMID:9463332 PMID:9497261 PMID:9536098 More...

RGD:7800719, RGD:7800711, RGD:7800707, RGD:7800689, RGD:7800688, RGD:7800680, RGD:7800670, RGD:7800657, RGD:734869

NCBI chr17:80,014,369...80,022,490
Ensembl chr17:80,008,966...80,022,490

G

forkhead box C1

OMIM:231300

NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459

G

galactose mutarotase

ClinVar Annotator: match by term: Congenital glaucoma

PMID:9097971 PMID:9497261 PMID:19234632 PMID:28492532 PMID:31251480

NCBI chr17:80,434,886...80,492,461
Ensembl chr17:80,434,900...80,492,530

G

predicted gene 7298

ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A

NCBI chr 6:121,711,454...121,761,598
Ensembl chr 6:121,709,891...121,766,043

G

heterogeneous nuclear ribonucleoprotein L-like

ClinVar Annotator: match by term: Congenital glaucoma

PMID:9097971 PMID:9497261 PMID:19234632 PMID:28492532 PMID:31251480

NCBI chr17:80,336,916...80,369,697
Ensembl chr17:80,336,916...80,369,697

G

Cyp1b1 5' regulatory region

ClinVar Annotator: match by term: Congenital glaucoma

NCBI chr17:80,022,357...80,028,601

G

latent transforming growth factor beta binding protein 2

ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A

NCBI chr12:84,829,986...84,923,581
Ensembl chr12:84,829,986...84,923,306

G

myocilin

ClinVar Annotator: match by term: Glaucoma 3, primary congenital, a, digenic

PMID:12447164 PMID:15025728 PMID:15723004 PMID:15733270 PMID:16288197 More...

NCBI chr 1:162,466,719...162,477,263
Ensembl chr 1:162,466,724...162,477,262

G

peroxidasin

ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A

NCBI chr12:29,986,641...30,067,657
Ensembl chr12:29,987,607...30,067,657

G

tyrosinase

OMIM:231300

NCBI chr 7:87,073,979...87,142,637
Ensembl chr 7:87,073,979...87,142,720

Cataract 50 with or without Glaucoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transient receptor potential cation channel, subfamily M, member 3

ClinVar Annotator: match by term: Cataract 50 with or without glaucoma

NCBI chr19:22,114,789...22,972,774
Ensembl chr19:22,116,410...22,972,774

Charcot-Marie-Tooth disease type 4B2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SET binding factor 2

ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma
CTD Direct Evidence: marker/mechanism
OMIM:604563

OMIM
ClinVar
CTD
MouseDO

PMID:9521281 PMID:9536098 PMID:10932274 PMID:12554688 PMID:12687498 More...

NCBI chr 7:109,907,218...110,215,150
Ensembl chr 7:109,907,220...110,214,129

Diastolic Hypertension, Resistance to

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Kv channel-interacting protein 1

ClinVar Annotator: match by term: Hypertension, diastolic, resistance to

PMID:15057310 PMID:16155733 PMID:25741868

NCBI chr11:33,579,339...33,943,854
Ensembl chr11:33,579,339...33,943,152

G

potassium large conductance calcium-activated channel, subfamily M, beta member 1

ClinVar Annotator: match by term: Hypertension, diastolic, resistance to
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:15057310 PMID:16155733 PMID:25741868

NCBI chr11:33,912,955...33,923,641
Ensembl chr11:33,913,013...33,923,641

eclampsia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 6

treatment

RGD

NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979

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

RGD

NCBI chr 7:119,360,106...119,384,119
Ensembl chr 7:119,360,146...119,386,736

G

adducin 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypertension, salt-sensitive essential, susceptibility to

OMIM
CTD
ClinVar

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

NCBI chr 5:34,731,008...34,789,652
Ensembl chr 5:34,731,008...34,789,652

G

angiotensinogen

ClinVar Annotator: match by term: Essential hypertension, genetic | ClinVar Annotator: match by term: Hypertension, essential, susceptibility to
CTD Direct Evidence: marker/mechanism

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

NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445

G

angiotensin II receptor, type 1a

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
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
OMIM
RGD

PMID:8021009 PMID:9084931 PMID:15042429 PMID:16116425 PMID:25741868 More...

NCBI chr13:30,520,339...30,566,850
Ensembl chr13:30,520,424...30,566,850

G

allograft inflammatory factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:35,389,967...35,394,977
Ensembl chr17:35,389,967...35,395,044

G

ATPase, Na+/K+ transporting, beta 1 polypeptide

CTD Direct Evidence: marker/mechanism

NCBI chr 1:164,264,668...164,285,924
Ensembl chr 1:164,264,678...164,285,924

G

ATPase, Ca++ transporting, cardiac muscle, slow twitch 2

susceptibility

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

RGD

NCBI chr 5:122,591,576...122,640,288
Ensembl chr 5:122,591,576...122,640,288

G

ATP synthase peripheral stalk subunit F6

protein:increased expression:plasma (human)

RGD

NCBI chr16:84,624,754...84,632,495
Ensembl chr16:84,624,754...84,632,513

G

calcyon neuron-specific vesicular protein

CTD Direct Evidence: marker/mechanism

NCBI chr 7:139,649,793...139,662,485
Ensembl chr 7:139,649,793...139,662,461

G

catalase

RGD

NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505

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 chr 6:124,806,533...124,810,664
Ensembl chr 6:124,806,510...124,810,664

G

cytochrome b-245, alpha polypeptide

CTD Direct Evidence: marker/mechanism

NCBI chr 8:123,151,510...123,159,679
Ensembl chr 8:123,151,515...123,159,669

G

cytochrome b-245, beta polypeptide

CTD Direct Evidence: marker/mechanism

NCBI chr X:9,301,493...9,354,005
Ensembl chr X:9,301,491...9,354,010

G

cytochrome P450, family 3, subfamily a, polypeptide 13

susceptibility

ClinVar Annotator: match by term: Hypertension, salt-sensitive essential, susceptibility to
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr 5:137,891,195...137,923,872
Ensembl chr 5:137,891,194...137,919,881

G

endothelin converting enzyme 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:137,589,548...137,692,540
Ensembl chr 4:137,589,548...137,692,540

G

elastin

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

NCBI chr 5:134,731,449...134,776,300
Ensembl chr 5:134,731,447...134,776,177

G

free fatty acid receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:30,517,778...30,523,200
Ensembl chr 7:30,517,773...30,523,200

G

free fatty acid receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 7:30,553,755...30,555,603
Ensembl chr 7:30,553,755...30,555,603

G

fibroblast growth factor receptor 2

sexual_dimorphism

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

RGD

NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079

G

FTO alpha-ketoglutarate dependent dioxygenase

DNA:SNP: :rs8050136 (human)

RGD

NCBI chr 8:92,039,995...92,395,061
Ensembl chr 8:92,040,153...92,395,067

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 2:179,966,881...179,977,296
Ensembl chr 2:179,966,926...179,976,492

G

guanine nucleotide binding protein (G protein), beta 3

susceptibility

ClinVar Annotator: match by term: Hypertension, essential, susceptibility to
CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs5443, rs1129649 (human)

ClinVar
OMIM
CTD
RGD

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

NCBI chr 6:124,811,203...124,817,238
Ensembl chr 6:124,811,203...124,817,238

G

G protein-coupled receptor kinase 4

susceptibility

DNA:SNP,haplotypes:cds:

PMID:15097232 PMID:15097232

RGD:1598505, RGD:1598505

NCBI chr 5:34,817,641...34,912,649
Ensembl chr 5:34,817,723...34,912,649

G

hepatitis A virus cellular receptor 1

protein:increased expression:urine:

RGD

NCBI chr11:46,630,644...46,670,405
Ensembl chr11:46,625,907...46,670,405

G

hydroxycarboxylic acid receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:124,001,633...124,003,579
Ensembl chr 5:124,001,633...124,003,562

G

high mobility group box 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:148,983,512...148,989,867
Ensembl chr 5:148,983,512...149,121,299

G

hydroxysteroid 11-beta dehydrogenase 1

susceptibility

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

RGD

NCBI chr 1:192,903,917...192,946,345
Ensembl chr 1:192,903,942...192,946,383

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059

G

lipocalin 2

protein:increased expression:urine:

RGD

NCBI chr 2:32,274,649...32,277,751
Ensembl chr 2:32,274,645...32,278,264

G

microRNA 126a

RNA:decreased expression:peripheral blood mononuclear cell

RGD

NCBI chr 2:26,481,369...26,481,441
Ensembl chr 2:26,481,369...26,481,441

G

neutrophil cytosolic factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:134,248,907...134,258,479
Ensembl chr 5:134,248,907...134,258,479

G

nitric oxide synthase 3, endothelial cell

DNA:snp:cds:p.E298D (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Essential hypertension
OMIM:145500 | OMIM:603918 | OMIM:604329 | OMIM:607329 | OMIM:608742 | OMIM:610261 | OMIM:610262 | OMIM:610948 | OMIM:611014
DNA:repeats:intron:IVS13+?-?dupCA (human)

CTD
ClinVar
MouseDO
RGD

PMID:25741868 PMID:11394896 PMID:9084930

RGD:1580280, RGD:1580277

NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472

G

natriuretic peptide type B

protein:increased expression:plasma:

RGD

NCBI chr 4:148,070,264...148,071,662
Ensembl chr 4:148,070,245...148,071,662

G

natriuretic peptide receptor 2

DNA:repeat:intron:IVS2+150(GT)10-11 (human)

RGD

NCBI chr 4:43,629,015...43,651,437
Ensembl chr 4:43,631,935...43,651,244

G

occludin

CTD Direct Evidence: marker/mechanism

NCBI chr13:100,633,012...100,689,226
Ensembl chr13:100,633,015...100,689,226

G

phosphatase and actin regulator 1

susceptibility

DNA:SNP::g.12903725A>G (rs9349379) (human)

RGD

NCBI chr13:42,833,909...43,292,002
Ensembl chr13:42,834,099...43,292,002

G

prostaglandin I2 (prostacyclin) synthase

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Essential hypertension | ClinVar Annotator: match by term: Essential hypertension, genetic

OMIM
CTD
ClinVar

PMID:12372404 PMID:25741868

NCBI chr 2:167,045,114...167,095,069
Ensembl chr 2:167,033,725...167,082,524

G

protein tyrosine phosphatase, non-receptor type 1

susceptibility

DNA:SNPs::g.54281T>A, 15/37C>A (human)

RGD

NCBI chr 2:167,772,670...167,821,305
Ensembl chr 2:167,773,977...167,821,305

G

retinoic acid receptor responder (tazarotene induced) 2

protein:increased expression:serum:

RGD

NCBI chr 6:48,546,630...48,549,778
Ensembl chr 6:48,546,630...48,549,723

G

retinol binding protein 4, plasma

disease_progression

protein:increased expression:blood plasma (human)
protein:increased expression:blood serum (human)

RGD

PMID:31865725 PMID:19556974

RGD:329845583, RGD:329845861

NCBI chr19:38,105,068...38,113,769
Ensembl chr19:38,105,077...38,113,729

G

renin 1 structural

RGD

NCBI chr 1:133,278,412...133,288,058
Ensembl chr 1:133,278,248...133,288,063

G

regulator of G-protein signaling 5

CTD Direct Evidence: marker/mechanism

NCBI chr 1:169,483,070...169,523,367
Ensembl chr 1:169,483,070...169,523,382

G

renalase, FAD-dependent amine oxidase

DNA:SNPs: :rs2576178, rs2296545,rs2114406 (human)

RGD

NCBI chr19:33,115,140...33,369,695
Ensembl chr19:33,115,147...33,369,665

G

solute carrier family 12, member 3

severity

DNA:missense mutation:cds:p.R904Q (human)
DNA:snp:intron:g.1784C>T (human)

RGD

PMID:15480096 PMID:15824464

RGD:1580589, RGD:1580586

NCBI chr 8:95,055,737...95,092,850
Ensembl chr 8:95,055,829...95,092,842

G

tyrosine hydroxylase

CTD Direct Evidence: marker/mechanism

NCBI chr 7:142,446,516...142,453,732
Ensembl chr 7:142,446,489...142,484,865

G

tight junction protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:64,945,913...65,177,629
Ensembl chr 7:64,945,913...65,177,529

G

toll-like receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074

G

toll-like receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983

G

uromodulin

ClinVar Annotator: match by term: Essential hypertension

NCBI chr 7:119,061,931...119,078,485
Ensembl chr 7:119,061,934...119,078,505

G

zinc finger and SCAN domain containing 25

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

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

NCBI chr 5:145,217,261...145,229,050
Ensembl chr 5:145,217,310...145,228,088

exfoliation syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activin A receptor, type 1

disease_progression

DNA:missense mutation:SNP:rs12997 (human)

RGD

NCBI chr 2:58,336,450...58,456,840
Ensembl chr 2:58,278,656...58,457,169

G

1-acylglycerol-3-phosphate O-acyltransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:34,823,164...34,832,392
Ensembl chr17:34,823,236...34,832,423

G

apolipoprotein E

susceptibility

DNA:polymorphism:exon:

RGD

NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113

G

calcium channel, voltage-dependent, P/Q type, alpha 1A subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 8:85,065,257...85,366,880
Ensembl chr 8:85,065,268...85,366,875

G

caveolin 1, caveolae protein

no_association

DNA:SNP:promoter:rs4236601 (human)

RGD

NCBI chr 6:17,306,387...17,341,323
Ensembl chr 6:17,306,334...17,341,451

G

clusterin

no_association

DNA:SNPs, haplotype: :multiple
DNA:SNP:intron:rs2279590 (human)

RGD

PMID:18806885 PMID:25057782 PMID:19182256 PMID:19182256 PMID:16639006

RGD:8699505, RGD:9068391, RGD:8887372, RGD:8887372, RGD:8699516

NCBI chr14:66,206,093...66,218,992
Ensembl chr14:66,205,932...66,218,996

G

endothelin 1

associated with Cataract;protein:increased expression:aqueous humor (human)

RGD

NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466

G

elastin

RGD

NCBI chr 5:134,731,449...134,776,300
Ensembl chr 5:134,731,447...134,776,177

G

glutathione S-transferase, mu 1

susceptibility
no_association

DNA:deletion, haplotype:cds (human)
DNA:deletion:cds (human)

RGD

PMID:18334963 PMID:16020292

RGD:7488955, RGD:7495792

NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289

G

glutathione S-transferase, theta 1

susceptibility
no_association

DNA:deletion:cds (human)
mRNA:decreased expression:ciliary processes, iris (human)

RGD

PMID:21151336 PMID:18055805 PMID:16020292

RGD:7794822, RGD:7794853, RGD:7495792

NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418

G

lysyl oxidase-like 1

susceptibility
no_association

DNA:SNP: :p.R141L (rs1048661) (human)
ClinVar Annotator: match by term: Exfoliation syndrome, susceptibility to
OMIM:177650
CTD Direct Evidence: marker/mechanism
DNA:CNVs
DNA:SNPs:exon:p.R141L, p.G153D (human)
DNA:SNP, haplotypes:promoter:multiple
DNA:SNP:exon:rs1048661, rs3825942 (human)
DNA:SNP, haplotypes: :rs1048661, rs3825942 (human)
DNA:SNP: :multiple

ClinVar
MouseDO
OMIM
CTD
RGD

PMID:17690259 PMID:18037624 PMID:19343041 PMID:25706626 PMID:25741868 More...

RGD:7387325, RGD:7394726, RGD:7387333, RGD:7387332, RGD:7387331, RGD:7387329, RGD:7387328, RGD:7387327, RGD:7387326

NCBI chr 9:58,195,006...58,220,495
Ensembl chr 9:58,195,021...58,220,469

G

latent transforming growth factor beta binding protein 2

ClinVar Annotator: match by term: Pseudoexfoliation glaucoma

PMID:23401661 PMID:25741868 PMID:28492532

NCBI chr12:84,829,986...84,923,581
Ensembl chr12:84,829,986...84,923,306

G

lysosomal trafficking regulator

OMIM:177650

NCBI chr13:13,764,896...13,953,388
Ensembl chr13:13,764,982...13,953,388

G

matrix metallopeptidase 1a (interstitial collagenase)

no_association

DNA:insertion:promoter:g.-1607insG rs1799750 (human)

RGD

NCBI chr 9:7,464,141...7,476,870
Ensembl chr 9:7,464,141...7,476,857

G

matrix metallopeptidase 1b (interstitial collagenase)

no_association

DNA:insertion:promoter:g.-1607insG rs1799750 (human)

NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047

G

matrix metallopeptidase 9

no_association

DNA:insertion: :p.Q279R (rs17576) (human)

RGD

NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770

G

optineurin

no_association

DNA:polymorphism: :p.M98K (human)

RGD

NCBI chr 2:5,023,902...5,069,210
Ensembl chr 2:5,025,453...5,068,862

G

proteasome maturation protein

CTD Direct Evidence: marker/mechanism

NCBI chr 5:147,797,438...147,812,594
Ensembl chr 5:147,797,271...147,813,266

G

paraoxonase 1

protein:decreased expression:serum (human)

RGD

NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946

G

RNA binding motif, single stranded interacting protein

CTD Direct Evidence: marker/mechanism

NCBI chr 9:116,401,814...117,869,900
Ensembl chr 9:116,401,814...117,701,749

G

superoxide dismutase 2, mitochondrial

associated with cataract;mRNA:increased expression:lens epithelium:
associated with glaucoma,primary open angle; mRNA:increased expression: ciliary body, iris:

RGD

PMID:23805041 PMID:18055805

RGD:8158048, RGD:7794853

NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950

G

stimulated by retinoic acid gene 6

mRNA:decreased expression:iris, retina (human)

RGD

NCBI chr 9:57,971,076...58,061,287
Ensembl chr 9:57,971,071...58,061,279

G

TLC domain containing 5

CTD Direct Evidence: marker/mechanism

NCBI chr 9:43,019,945...43,028,000
Ensembl chr 9:43,019,945...43,027,865

G

toll-like receptor 4

susceptibility

DNA:haplotype::

RGD

NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521

glaucoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin converting enzyme 2

treatment

RGD

NCBI chr X:162,922,338...162,971,414
Ensembl chr X:162,922,328...162,971,416

G

argonaute RISC catalytic subunit 2

exacerbates

RGD

NCBI chr15:72,967,693...73,056,777
Ensembl chr15:72,967,693...73,056,784

G

annexin A3

mRNA:increased expression:retina

RGD

NCBI chr 5:96,941,257...96,993,825
Ensembl chr 5:96,941,198...96,993,825

G

apolipoprotein A-IV

Primary Congenital Glaucoma; protein:increased expression:aqueous humor (human)

RGD

NCBI chr 9:46,152,142...46,154,756
Ensembl chr 9:46,151,994...46,154,757

G

apolipoprotein E

GAD

NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113

G

Rho guanine nucleotide exchange factor 12

ClinVar Annotator: match by term: Glaucoma

NCBI chr 9:42,875,138...43,017,069
Ensembl chr 9:42,875,138...43,018,534

G

activating transcription factor 2

RGD

NCBI chr 2:73,646,853...73,723,094
Ensembl chr 2:73,646,853...73,722,983

G

BCL2-associated agonist of cell death

protein:decreased serine phosphorylation:retina

RGD

NCBI chr19:6,919,229...6,929,273
Ensembl chr19:6,919,229...6,929,267

G

BCL2-associated X protein

mRNA:increased expression:optic nerve, retina

RGD

NCBI chr 7:45,111,124...45,116,332
Ensembl chr 7:45,111,121...45,116,322

G

B cell leukemia/lymphoma 2

mRNA:decreased expression:optic nerve, retina

RGD

NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004

G

brain derived neurotrophic factor

treatment

protein:decreased expression:eye:

RGD

PMID:19422885 PMID:21498611 PMID:10711692

RGD:8655601, RGD:8655886, RGD:8655608

NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352

G

beclin 1, autophagy related

protein:increased expression:eye

RGD

NCBI chr11:101,179,084...101,193,112
Ensembl chr11:101,176,778...101,193,112

G

brain expressed X-linked 3

mRNA:decreased expression:retina

RGD

NCBI chr X:135,171,002...135,172,727
Ensembl chr X:135,171,002...135,172,727

G

cyclin D2

mRNA:increased expression:retina

RGD

NCBI chr 6:127,102,125...127,131,913
Ensembl chr 6:127,102,125...127,129,156

G

C-C motif chemokine receptor 5

RGD

NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736

G

cyclin dependent kinase inhibitor 1B

mRNA, protein:decreased expression:retina, Muller cell

RGD

NCBI chr 6:134,897,364...134,902,488
Ensembl chr 6:134,897,364...134,902,476

G

cyclin dependent kinase inhibitor 2A

CTD Direct Evidence: marker/mechanism

NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890

G

cyclin dependent kinase inhibitor 2B

CTD Direct Evidence: marker/mechanism

NCBI chr 4:89,224,526...89,229,269
Ensembl chr 4:89,224,536...89,229,276

G

complement component factor h

protein:decreased expression:retina:

RGD

NCBI chr 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502

G

ciliary neurotrophic factor

ameliorates

RGD

PMID:14725620 PMID:19060281

RGD:1626115, RGD:8655853

NCBI chr19:12,740,892...12,742,996
Ensembl chr19:12,741,024...12,742,996

G

CREB binding protein

ClinVar Annotator: match by term: Glaucoma

NCBI chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861

G

C-X3-C motif chemokine receptor 1

RGD

NCBI chr 9:119,877,749...119,897,362
Ensembl chr 9:119,877,749...119,898,945

G

eukaryotic translation elongation factor 2

associated with Exfoliation Syndrome;

RGD

NCBI chr10:81,012,465...81,018,343
Ensembl chr10:81,012,465...81,018,332

G

erythropoietin

protein:increased expression:retina:

RGD

PMID:19741249 PMID:17554621 PMID:17554621

RGD:10401071, RGD:11041649, RGD:11041649

NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504

G

erythropoietin receptor

protein:increased expression:retina:

RGD

NCBI chr 9:21,870,193...21,874,915
Ensembl chr 9:21,870,193...21,874,802

G

Fas cell surface death receptor

protein:increased expression:optic nerve head, axon (human)

RGD

NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172

G

forkhead box C1

associated with Axenfeld-Rieger Syndrome;DNA:mutation:cds:p.Q120X(human)

RGD

NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459

G

forkhead box D3

mRNA:increased expression:optic nerve head (human)

RGD

NCBI chr 4:99,544,536...99,546,908
Ensembl chr 4:99,544,536...99,546,859

G

GTP binding protein overexpressed in skeletal muscle

mRNA:decreased expression:optic nerve head (rat)

RGD

NCBI chr 4:11,702,379...11,714,993
Ensembl chr 4:11,704,457...11,714,752

G

histocompatibility 2, class II antigen A, beta 1

susceptibility

DNA:polymorphisms, haplotype:cds:HLA-DQB1*0302 (human)

RGD

NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393

G

histocompatibility 2, class II antigen E beta

susceptibility

DNA:Haplotype: :HLA-DRB1*0407(human)

RGD

NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648

G

histone deacetylase 1

mRNA:increased expression:optic nerve head (human)
mRNA:increased expression:optic nerve head (rat)

RGD

PMID:28990066 PMID:28990066

RGD:155630605, RGD:155630605

NCBI chr 4:129,409,897...129,436,516
Ensembl chr 4:129,409,897...129,436,506

G

hephaestin

mRNA:increased expression:optic nerve head (human)

RGD

NCBI chr X:95,499,042...95,618,091
Ensembl chr X:95,498,965...95,618,091

G

hepatic nuclear factor 4, alpha

mRNA:increased expression:optic nerve head (human)

RGD

NCBI chr 2:163,348,731...163,414,827
Ensembl chr 2:163,348,728...163,414,830

G

inhibitor of DNA binding 1, HLH protein

mRNA:increased expression:optic nerve head (human)

RGD

NCBI chr 2:152,578,171...152,579,330
Ensembl chr 2:152,578,171...152,579,330

G

jun proto-oncogene

mRNA:increased expression:optic nerve head (human)

RGD

NCBI chr 4:94,937,273...94,940,459
Ensembl chr 4:94,937,271...94,940,459

G

leucine-rich repeat-containing G protein-coupled receptor 4

NCBI chr 2:109,747,919...109,844,602
Ensembl chr 2:109,747,992...109,844,602

G

leucine rich repeat and Ig domain containing 1

treatment

RGD

NCBI chr 9:56,525,743...56,704,355
Ensembl chr 9:56,525,759...56,703,752

G

latent transforming growth factor beta binding protein 2

CTD Direct Evidence: marker/mechanism

PMID:19361779 PMID:27149523

NCBI chr12:84,829,986...84,923,581
Ensembl chr12:84,829,986...84,923,306

G

microtubule-associated protein 1 light chain 3 alpha

protein:increased expression:optic nerve

RGD

NCBI chr 2:155,118,284...155,119,993
Ensembl chr 2:155,118,217...155,119,993

G

MAS1 oncogene

treatment

RGD

NCBI chr17:13,056,981...13,087,037
Ensembl chr17:13,059,966...13,087,030

G

methyltransferase like 23

NCBI chr11:116,734,341...116,740,566
Ensembl chr11:116,734,104...116,745,089

G

microRNA 145a

ameliorates

RGD

NCBI chr18:61,780,896...61,780,965
Ensembl chr18:61,780,896...61,780,965

G

microRNA 200c

treatment

RGD

NCBI chr 6:124,695,285...124,695,353
Ensembl chr 6:124,695,285...124,695,353

G

matrix metallopeptidase 9

RGD

NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770

G

mucin 5, subtypes A and C, tracheobronchial/gastric

protein:increased expression:conjunctival epithelial cell

RGD

NCBI chr 7:141,342,695...141,372,964
Ensembl chr 7:141,342,709...141,372,968

G

myosin, light polypeptide kinase

CTD Direct Evidence: marker/mechanism

NCBI chr16:34,565,569...34,822,806
Ensembl chr16:34,565,580...34,822,790

G

myocilin

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glaucoma

PMID:9535666 PMID:9772276 PMID:9804137 PMID:10196380 PMID:10330365 More...

NCBI chr 1:162,466,719...162,477,263
Ensembl chr 1:162,466,724...162,477,262

G

neurofilament, heavy polypeptide

protein:decreased expression:optic nerve:

RGD

NCBI chr11:4,888,754...4,898,064
Ensembl chr11:4,888,754...4,898,064

G

nerve growth factor

protein:decreased expression:cerebrospinal fluid

RGD

NCBI chr 3:102,377,235...102,428,329
Ensembl chr 3:102,377,235...102,428,329

G

nerve growth factor receptor (TNFR superfamily, member 16)

RGD

NCBI chr11:95,459,644...95,478,524
Ensembl chr11:95,459,644...95,478,561

G

nicotinamide nucleotide adenylyltransferase 3

treatment

RGD

NCBI chr 9:98,169,487...98,302,586
Ensembl chr 9:98,169,488...98,302,491

G

neurotrophic tyrosine kinase, receptor, type 1

mRNA,protein:decreased expression:eye

RGD

PMID:18817846 PMID:20943663

RGD:5684379, RGD:5508695

NCBI chr 3:87,685,551...87,702,549
Ensembl chr 3:87,685,551...87,702,469

G

neurotrophic tyrosine kinase, receptor, type 2

protein:increased expression:eye:

RGD

PMID:20357199 PMID:10711692

RGD:5684908, RGD:8655608

NCBI chr13:58,954,363...59,281,782
Ensembl chr13:58,954,383...59,281,784

G

OPA1, mitochondrial dynamin like GTPase

treatment

RGD

PMID:18936150 PMID:20664796

RGD:7800698, RGD:7800720

NCBI chr16:29,398,099...29,481,924
Ensembl chr16:29,398,152...29,473,702

G

optineurin

susceptibility

DNA:SNP:intron:

RGD

NCBI chr 2:5,023,902...5,069,210
Ensembl chr 2:5,025,453...5,068,862

G

pre B cell leukemia homeobox 1

mRNA:increased expression:optic nerve head (human)
mRNA:increased expression:optic nerve head (rat)

RGD

PMID:28990066 PMID:28990066

RGD:155630605, RGD:155630605

NCBI chr 1:167,946,933...168,259,898
Ensembl chr 1:167,946,933...168,259,839

G

paired-like homeodomain transcription factor 2

NCBI chr 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240

G

prostaglandin-endoperoxide synthase 1

protein:increased expression:microglia

RGD

NCBI chr 2:36,106,758...36,142,287
Ensembl chr 2:36,120,438...36,142,284

G

protein tyrosine phosphatase, non-receptor type 11

treatment

protein:increased phosphorylation:retina
protein:increased expression,increased phosphorylation:retina

RGD

PMID:30341011 PMID:30341011 PMID:30341011

RGD:39456090, RGD:39456090, RGD:39456090

NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460

G

raftlin lipid raft linker 1

mRNA:increased expression:optic nerve head (human)
mRNA:increased expression:optic nerve head (rat)

RGD

PMID:28990066 PMID:28990066

RGD:155630605, RGD:155630605

NCBI chr17:50,300,287...50,497,525
Ensembl chr17:50,299,285...50,497,702

G

ryanodine receptor 1, skeletal muscle

ClinVar Annotator: match by term: Glaucoma

PMID:25741868 PMID:28492532

NCBI chr 7:28,702,765...28,824,599
Ensembl chr 7:28,702,769...28,824,604

G

selenium binding protein 1

mRNA:increased expression:optic nerve head (human)

RGD

NCBI chr 3:94,840,394...94,852,069
Ensembl chr 3:94,840,367...94,852,069

G

serine (or cysteine) peptidase inhibitor, clade E, member 1

protein:increased expression:aqueous humor (human)

RGD

NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122

G

SH3 and PX domains 2B

NCBI chr11:32,297,777...32,378,189
Ensembl chr11:32,297,820...32,378,173

G

solute carrier family 4 (anion exchanger), member 4

CTD Direct Evidence: marker/mechanism

NCBI chr 5:88,941,717...89,387,515
Ensembl chr 5:89,034,345...89,387,512

G

synuclein, gamma

mRNA, protein:decreased expression:optic nerve

RGD

PMID:18728752 PMID:11933054

RGD:6218971, RGD:6480100

NCBI chr14:34,092,231...34,096,626
Ensembl chr14:34,092,231...34,096,746

G

sequestosome 1

protein:increased expression:optic nerve

RGD

NCBI chr11:50,090,979...50,105,303
Ensembl chr11:50,090,193...50,101,654

G

tudor domain containing 7

CTD Direct Evidence: marker/mechanism

NCBI chr 4:45,965,335...46,034,766
Ensembl chr 4:45,965,334...46,034,761

G

transforming growth factor, beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:186,354,984...186,441,504
Ensembl chr 1:186,354,989...186,438,186

G

tumor necrosis factor

IEP
IMP
IDA
ISO

protein:increased expression:retina

RGD

PMID:20574020 PMID:17151265 PMID:17151265 PMID:22802951 PMID:20574020

RGD:7394760, RGD:7394785, RGD:7394785, RGD:7394770, RGD:7394760

NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983

G

thioredoxin 1

protein:decreased expression:retinal ganglion cell

RGD

NCBI chr 4:57,943,373...57,956,411
Ensembl chr 4:57,943,373...57,956,411

G

thioredoxin interacting protein

protein:increased expression:retinal ganglion cell

RGD

NCBI chr 3:96,465,273...96,469,173
Ensembl chr 3:96,465,273...96,469,199

G

vascular endothelial growth factor A

protein:increased expression:retina:

RGD

PMID:18728749 PMID:23416159

RGD:7421595, RGD:7421614

NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295

G

WD repeat domain 36

susceptibility

DNA:polymorphism:exon:rs10038177(human)
DNA:polymorphisms:cds:p.I264V,c.1965-30A>G(human)
DNA:haplotype::rs13153937, rs10038177, rs11241095 (human)

RGD

PMID:22025897 PMID:17960130 PMID:19347049

RGD:8548460, RGD:8548462, RGD:8548461

NCBI chr18:32,970,241...33,000,008
Ensembl chr18:32,970,278...33,000,647

G

zinc finger E-box binding homeobox 1

ClinVar Annotator: match by term: Glaucoma

NCBI chr18:5,591,330...5,775,468
Ensembl chr18:5,591,860...5,775,467

Glaucoma 1, Open Angle, B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FAST kinase domains 1

ClinVar Annotator: match by term: Glaucoma 1, open angle, B

NCBI chr 2:69,517,159...69,543,875
Ensembl chr 2:69,517,159...69,543,860

Glaucoma 1, Open Angle, E

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myocilin

ClinVar Annotator: match by term: Glaucoma 1, open angle, E

PMID:9535666 PMID:9804137 PMID:10545602 PMID:10798654 PMID:10980537 More...

NCBI chr 1:162,466,719...162,477,263
Ensembl chr 1:162,466,724...162,477,262

G

optineurin

ClinVar Annotator: match by term: Glaucoma 1, open angle, E | ClinVar Annotator: match by term: Glaucoma 1, open angle, e

PMID:11834836 PMID:11978762 PMID:12208142 PMID:12939304 PMID:14597044 More...

NCBI chr 2:5,023,902...5,069,210
Ensembl chr 2:5,025,453...5,068,862

Glaucoma 1, Open Angle, F

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin repeat and SOCS box-containing 10

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glaucoma 1, open angle, F

OMIM
CTD
ClinVar

PMID:10037570 PMID:22156576 PMID:25741868 PMID:28492532

NCBI chr 5:24,737,695...24,745,976
Ensembl chr 5:24,737,695...24,745,976

Glaucoma 1, Open Angle, G

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

WD repeat domain 36

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glaucoma 1, open angle, G | ClinVar Annotator: match by term: WDR36-related condition

OMIM
CTD
ClinVar

PMID:15677485 PMID:16723468 PMID:17353431 PMID:17563723 PMID:18172102 More...

NCBI chr18:32,970,241...33,000,008
Ensembl chr18:32,970,278...33,000,647

Glaucoma 1, Open Angle, H

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

epidermal growth factor-containing fibulin-like extracellular matrix protein 1

ClinVar Annotator: match by term: Glaucoma 1, open angle, H
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:25741868 PMID:26162006 PMID:28492532 PMID:34923728

NCBI chr11:28,803,154...28,876,743
Ensembl chr11:28,803,204...28,876,743

Glaucoma 1, Open Angle, O

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

neurotrophin 5

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glaucoma 1, open angle, O

OMIM
CTD
ClinVar

PMID:19765683 PMID:20215012 PMID:20463313 PMID:25741868 PMID:27535533

NCBI chr 7:45,063,119...45,066,603
Ensembl chr 7:45,063,119...45,066,603

Glaucoma 1, Open Angle, P

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TANK-binding kinase 1

ClinVar Annotator: match by term: Glaucoma 1, open angle, P

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr10:121,382,360...121,422,699
Ensembl chr10:121,382,360...121,422,692

Glaucoma 3, Primary Infantile, B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytochrome P450, family 1, subfamily b, polypeptide 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary congenital glaucoma type 3B

PMID:9097971 PMID:9463332 PMID:9497261 PMID:10227395 PMID:10426814 More...

NCBI chr17:80,014,369...80,022,490
Ensembl chr17:80,008,966...80,022,490

G

latent transforming growth factor beta binding protein 2

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glaucoma 3, primary infantile, B

PMID:9536098 PMID:16199547 PMID:17576681 PMID:19361779 PMID:22025892 More...

NCBI chr12:84,829,986...84,923,581
Ensembl chr12:84,829,986...84,923,306

G

TEK receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:94,627,322...94,763,213
Ensembl chr 4:94,627,526...94,763,213

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

NCBI chr 3:88,828,110...88,858,504
Ensembl chr 3:88,828,110...88,858,488

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)

RGD

NCBI chr 2:26,863,363...26,899,638
Ensembl chr 2:26,863,428...26,899,640

G

alpha hemoglobin stabilizing protein

mRNA:decreased expression:placenta (human)

RGD

NCBI chr 7:127,902,016...127,902,926
Ensembl chr 7:127,901,969...127,902,930

G

CD40 ligand

protein:increased expression:blood platelet (human)

RGD

NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402

G

erb-b2 receptor tyrosine kinase 2

RGD

NCBI chr11:98,303,310...98,328,542
Ensembl chr11:98,303,296...98,328,542

G

Fas cell surface death receptor

susceptibility

DNA:SNP:promoter:-670A>G(rs1800682)(human)
protein,mRNA:altered expression:placenta, liver:

RGD

PMID:30066360 PMID:28501275

RGD:14700669, RGD:14700673

NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172

G

Fas ligand

susceptibility

DNA:SNP:intron:124A>G(rs5030772)(human)
protein:altered expression:blood, placenta, liver:

RGD

PMID:30066360 PMID:28501275

RGD:14700669, RGD:14700673

NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064

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

NCBI chr 3:108,332,180...108,352,575
Ensembl chr 3:108,332,181...108,352,525

G

seryl-aminoacyl-tRNA synthetase 2

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME | ClinVar Annotator: match by term: Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis
DNA:missense mutation:CDS:p.D390G (human)

OMIM
CTD
ClinVar
RGD

PMID:9536098 PMID:17576681 PMID:21255763 PMID:24034276 PMID:25741868 More...

NCBI chr 7:28,441,393...28,453,304
Ensembl chr 7:28,441,417...28,453,296

hydrophthalmos

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytochrome P450, family 1, subfamily b, polypeptide 1

DNA:insertion, deletions:exons, intron:g.1209_1214insC, g.1410_1422del, g.1389-?-1422+?del (human)

RGD

NCBI chr17:80,014,369...80,022,490
Ensembl chr17:80,008,966...80,022,490

G

FMS-like tyrosine kinase 1

RGD

NCBI chr 5:147,498,414...147,663,419
Ensembl chr 5:147,498,414...147,662,821

G

kinase insert domain protein receptor

RGD

NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118

hypertension and brachydactyly syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphodiesterase 3A, cGMP inhibited

ClinVar Annotator: match by term: Bilginturan syndrome
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:4774535 PMID:25741868 PMID:25961942 PMID:28492532 PMID:29758562 More...

NCBI chr 6:141,194,995...141,452,588
Ensembl chr 6:141,194,995...141,453,174

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)

RGD

NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289

G

nitric oxide synthase 3, endothelial cell

ClinVar Annotator: match by term: Hypertension resistant to conventional therapy

PMID:9737779 PMID:9894802 PMID:10475066 PMID:10510054 PMID:10514107 More...

NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472

G

protein tyrosine phosphatase receptor type D

susceptibility

associated with coronary artery disease;DNA:SNP:intron: (rs324498) (human)

RGD

NCBI chr 4:75,859,474...78,132,282
Ensembl chr 4:75,859,475...78,130,198

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

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy | ClinVar Annotator: match by term: Hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy

OMIM
CTD
ClinVar

PMID:10884226 PMID:15126534 PMID:16757525 PMID:22463955 PMID:25741868 More...

NCBI chr 8:77,626,422...77,971,641
Ensembl chr 8:77,626,070...77,971,641

Hypertensive Nephropathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensinogen

treatment

RGD

NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445

G

angiotensin II receptor, type 1a

treatment

RGD

NCBI chr13:30,520,339...30,566,850
Ensembl chr13:30,520,424...30,566,850

G

cofilin 1, non-muscle

protein:increased phosphorylation:kidney (rat)

RGD

NCBI chr19:5,540,483...5,544,059
Ensembl chr19:5,540,483...5,545,229

G

collagen, type I, alpha 1

mRNA:increased expression:juxtamedullary cortex (rat)

RGD

NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868

G

haptoglobin

treatment

RGD

NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804

G

matrix metallopeptidase 2

ameliorates

RGD

NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048

G

natriuretic peptide type B

RGD

NCBI chr 4:148,070,264...148,071,662
Ensembl chr 4:148,070,245...148,071,662

G

periostin, osteoblast specific factor

disease_progression

mRNA,protein:increased expression:kidney:

RGD

NCBI chr 3:54,266,688...54,298,462
Ensembl chr 3:54,268,530...54,298,458

G

peroxisome proliferator activated receptor alpha

RGD

NCBI chr15:85,619,112...85,691,052
Ensembl chr15:85,619,184...85,687,020

G

recombination activating 1

ameliorates

RGD

PMID:23364523 PMID:23364523

RGD:7207429, RGD:7207429

NCBI chr 2:101,468,597...101,479,877
Ensembl chr 2:101,468,627...101,479,846

G

src homology 2 domain-containing transforming protein C1

protein:increased expression:kidney

RGD

NCBI chr 3:89,325,858...89,337,336
Ensembl chr 3:89,325,750...89,337,334

G

sirtuin 6

protein:decreased expression:kidney

RGD

NCBI chr10:81,457,621...81,463,631
Ensembl chr10:81,457,619...81,463,631

Hypertensive Nephrosclerosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

treatment
severity

protein:increased expression:nephron tubule, kidney interstitium (human)

RGD

PMID:10580398 PMID:21346373

RGD:12879397, RGD:40818408

NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790

G

angiotensin converting enzyme 2

severity

mRNA, protein:decreased expression, increased expression:nephron tubule, kidney interstitium (human)

RGD

NCBI chr X:162,922,338...162,971,414
Ensembl chr X:162,922,328...162,971,416

G

microRNA 214

RNA:increased expression:kidney

RGD

NCBI chr 1:162,050,937...162,051,046
Ensembl chr 1:162,050,937...162,051,046

hypertensive retinopathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-reactive protein, pentraxin-related

protein:increased expression:blood:

RGD

NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598

G

SRY (sex determining region Y)-box 17

treatment

RGD

NCBI chr 1:4,561,154...4,567,624
Ensembl chr 1:4,561,154...4,567,577

Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tRNA isoleucine, mitochondrial

ClinVar Annotator: match by term: Hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial

PMID:15498972 PMID:34607911

NCBI chr MT:3,706...3,774
Ensembl chr MT:3,706...3,774

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 chr12:8,027,629...8,066,839
Ensembl chr12:8,027,648...8,066,835

G

BSCL2 lipid droplet biogenesis associated, seipin

ClinVar Annotator: match by term: Isolated systolic hypertension

PMID:25741868 PMID:28492532

NCBI chr19:8,814,831...8,826,047
Ensembl chr19:8,814,831...8,826,047

juvenile glaucoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytochrome P450, family 1, subfamily b, polypeptide 1

ClinVar Annotator: match by term: Glaucoma of childhood

PMID:9497261 PMID:10227395 PMID:15342693 PMID:16735994 PMID:18227148 More...

NCBI chr17:80,014,369...80,022,490
Ensembl chr17:80,008,966...80,022,490

G

epidermal growth factor-containing fibulin-like extracellular matrix protein 1

ClinVar Annotator: match by term: Glaucoma of childhood

PMID:28492532 PMID:34923728

NCBI chr11:28,803,154...28,876,743
Ensembl chr11:28,803,204...28,876,743

G

forkhead box C1

ClinVar Annotator: match by term: Glaucoma of childhood

NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459

G

latent transforming growth factor beta binding protein 2

ClinVar Annotator: match by term: Glaucoma of childhood

PMID:19361779 PMID:19656777 PMID:22025892 PMID:24033266 PMID:28492532

NCBI chr12:84,829,986...84,923,581
Ensembl chr12:84,829,986...84,923,306

G

myocilin

susceptibility

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glaucoma 1, open angle, A | ClinVar Annotator: match by term: Glaucoma of childhood | ClinVar Annotator: match by term: MYOC-Related Disorders | ClinVar Annotator: match by term: Primary open angle glaucoma juvenile onset 1
DNA:snp:cds:pD380A (human)
DNA:snp:cds:pC245Y (human)
DNA:nonsense mutation, missense mutation, snps:exon, intron, 3' utr:multiple (human)
DNA:missense mutations, nonsense mutation:cds:multiple (human)
DNA:snp:cds:p.D384N (human)
DNA:snp:cds:p.Y371D (human)
DNA:snp:cds:p.N450Y (human)
DNA:snp:cds:p.V251A (human)
DNA:insertion:cds:p.D395_E396insDP (human)
DNA:snps:cds:p.P370L, p.Y437H (human)
DNA:snp:cds:pT377R (human)

OMIM
CTD
ClinVar
RGD

PMID:3756132 PMID:6770678 PMID:8513321 PMID:9005853 PMID:9328473 More...

RGD:7401248, RGD:7401247, RGD:7401192, RGD:7401186, RGD:7394848, RGD:7394834, RGD:7394828, RGD:7394800, RGD:7394798, RGD:7394788, RGD:7394787

NCBI chr 1:162,466,719...162,477,263
Ensembl chr 1:162,466,724...162,477,262

G

paired box 6

NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709

low tension glaucoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adrenergic receptor, beta 1

susceptibility

DNA:polymorphism:cds:p.R389G(human)

RGD

NCBI chr19:56,710,549...56,713,582
Ensembl chr19:56,710,631...56,721,545

G

apolipoprotein E

susceptibility

DNA:polymorphism:exon:

RGD

NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113

G

brain derived neurotrophic factor

protein:increased expression:tear:

RGD

NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352

G

caveolin 1, caveolae protein

no_association

DNA:SNP:promoter:rs4236601 (human)

RGD

NCBI chr 6:17,306,387...17,341,323
Ensembl chr 6:17,306,334...17,341,451

G

caveolin 2

susceptibility

DNA:SNP: :rs1052990 (human)

RGD

NCBI chr 6:17,281,184...17,289,129
Ensembl chr 6:17,281,184...17,289,114

G

C-reactive protein, pentraxin-related

no_association

protein:increased expression:plasma:

RGD

PMID:16148587 PMID:22966842

RGD:9491770, RGD:9491771

NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598

G

endothelin 1

protein:increased expression:plasma (human)

RGD

NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466

G

heat shock protein 1 (chaperonin)

RGD

NCBI chr 1:55,116,992...55,127,402
Ensembl chr 1:55,116,994...55,127,402

G

myocilin

susceptibility

DNA:Haplotype: :

RGD

NCBI chr 1:162,466,719...162,477,263
Ensembl chr 1:162,466,724...162,477,262

G

optineurin

susceptibility

DNA:SNPs:exon,introns:
DNA:polymorphism:exon:p.M98K(human)
DNA:polymorphisms, haplotype:exons:c.412G>A,603T>A(human)

PMID:16148883 PMID:15226658 PMID:15557444

RGD:7771548, RGD:7775043, RGD:7775041

NCBI chr 2:5,023,902...5,069,210
Ensembl chr 2:5,025,453...5,068,862

G

solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1

CTD Direct Evidence: marker/mechanism
OMIM:606657

NCBI chr19:28,812,535...28,891,360
Ensembl chr19:28,812,449...28,891,360

G

solute carrier family 1 (glial high affinity glutamate transporter), member 3

OMIM:606657

NCBI chr15:8,663,608...8,742,648
Ensembl chr15:8,663,608...8,740,248

G

superoxide dismutase 1, soluble

protein:decreased expression:serum (human)
OMIM:606657

NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217

G

toll-like receptor 4

susceptibility
no_association

DNA:polymorphism,haplotype:multiple:
DNA:polymorphisms:multiple:

RGD

PMID:22831837 PMID:21921986

RGD:7794768, RGD:7794769

NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521

G

tumor necrosis factor

DNA:polymorphism, haplotype:promoter: -863C>A (human)

RGD

NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983

G

transformation related protein 53

susceptibility

DNA:polymorphism:cds:p.R72P(rs1042522)(human)

RGD

NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699

malignant hypertension

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adrenomedullin

protein:increased expression:plasma

RGD

NCBI chr 7:110,226,864...110,229,027
Ensembl chr 7:110,226,868...110,229,027

G

angiotensinogen

CTD Direct Evidence: marker/mechanism

PMID:2493837 PMID:27428043

NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445

G

cytochrome P450, family 17, subfamily a, polypeptide 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:46,655,604...46,661,439
Ensembl chr19:46,655,604...46,661,611

G

renin 1 structural

CTD Direct Evidence: marker/mechanism

NCBI chr 1:133,278,412...133,288,058
Ensembl chr 1:133,278,248...133,288,063

G

renin 2 tandem duplication of Ren1

CTD Direct Evidence: marker/mechanism

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

RGD

NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778

Microspherophakia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

latent transforming growth factor beta binding protein 2

DNA:frameshift mutation:CDS:p.H1816PfsX28 (human)
ClinVar Annotator: match by term: Microspherophakia

PMID:19361779 PMID:19656777 PMID:20179738 PMID:20617341 PMID:21081970 More...

NCBI chr12:84,829,986...84,923,581
Ensembl chr12:84,829,986...84,923,306

Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

latent transforming growth factor beta binding protein 2

ClinVar Annotator: match by term: Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:19361779 PMID:19656777 PMID:20179738 PMID:21081970 PMID:22025892 More...

NCBI chr12:84,829,986...84,923,581
Ensembl chr12:84,829,986...84,923,306

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

RGD

NCBI chr11:54,793,680...54,801,213
Ensembl chr11:54,793,279...54,801,203

Nanophthalmos 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myelin regulatory factor

ClinVar Annotator: match by term: Nanophthalmos 1

NCBI chr19:10,185,635...10,218,134
Ensembl chr19:10,185,636...10,218,112

Neonatal Pulmonary Hypertension

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

carbamoyl-phosphate synthetase 1

susceptibility

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pulmonary hypertension, neonatal, susceptibility to

CTD
OMIM
ClinVar

PMID:8486760 PMID:9536098 PMID:9686343 PMID:9711878 PMID:11388595 More...

NCBI chr 1:67,151,294...67,270,426
Ensembl chr 1:67,162,185...67,270,418

neovascular glaucoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

endothelin 1

protein:increased expression:aqueous humor (human)

RGD

NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466

G

interleukin 6

disease_progression

associated with Retinal Vein Occlusion;protein:increased expression:aqueous humor:

RGD

NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979

G

vascular endothelial growth factor A

associated with Diabetes Mellitus, type 2; protein:increased expression:aqueous humor of eyeball:

RGD

NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295

nephrosclerosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin alpha 2, smooth muscle, aorta

CTD Direct Evidence: marker/mechanism

NCBI chr19:34,217,736...34,232,985
Ensembl chr19:34,218,490...34,232,990

G

adrenergic receptor, beta 1

disease_progression

associated with hypertension;DNA:missense mutations, haplotype:cds:p.S49G(rs1801252),p.R389G (rs1801253)(human):

RGD

NCBI chr19:56,710,549...56,713,582
Ensembl chr19:56,710,631...56,721,545

G

arachidonate 5-lipoxygenase

CTD Direct Evidence: marker/mechanism

NCBI chr 6:116,387,030...116,438,139
Ensembl chr 6:116,387,038...116,438,139

G

alpha-kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:127,460,367...127,574,195
Ensembl chr 3:127,463,959...127,574,176

G

collagen, type I, alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868

G

collagen, type III, alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:45,350,698...45,388,866
Ensembl chr 1:45,350,698...45,388,866

G

C-X-C motif chemokine ligand 12

CTD Direct Evidence: marker/mechanism

NCBI chr 6:117,145,496...117,158,329
Ensembl chr 6:117,145,496...117,158,328

G

C-X-C motif chemokine receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030

G

fibroblast growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257

G

homeodomain interacting protein kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:38,664,447...38,853,236
Ensembl chr 6:38,671,325...38,853,099

G

leukotriene B4 receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:56,002,154...56,005,951
Ensembl chr14:56,003,419...56,005,951

G

methylenetetrahydrofolate reductase

DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human)

RGD

NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008

G

prostaglandin D2 synthase (brain)

associated with Hypertension;protein:increased expression:serum, urine

RGD

NCBI chr 2:25,356,723...25,360,080
Ensembl chr 2:25,356,721...25,360,058

G

S100 calcium binding protein A4

CTD Direct Evidence: marker/mechanism

NCBI chr 3:90,511,077...90,513,349
Ensembl chr 3:90,511,078...90,513,352

G

transforming growth factor, beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502

Normal Tension Glaucoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

OPA1, mitochondrial dynamin like GTPase

susceptibility

DNA:polymorphism:intron:IVS8+32T>C (human)
ClinVar Annotator: match by term: GLAUCOMA, NORMAL PRESSURE, SUSCEPTIBILITY TO
CTD Direct Evidence: marker/mechanism
DNA:splice-site mutations, deletion, missense mutation:introns, exon:multiple
DNA:polymorphism:intron:IVS8+4C>T (human)
DNA:SNPs, haplotype:intron:IVS8+4C>T, IVS8+32T>C (human)

OMIM
ClinVar
CTD
RGD

PMID:9490303 PMID:9917792 PMID:11017079 PMID:11440988 PMID:11440989 More...

RGD:7800685, RGD:7800712, RGD:7800710, RGD:7800687

NCBI chr16:29,398,099...29,481,924
Ensembl chr16:29,398,152...29,473,702

G

optineurin

susceptibility

ClinVar Annotator: match by term: Glaucoma, normal tension, susceptibility to
CTD Direct Evidence: marker/mechanism

ClinVar
OMIM
CTD

PMID:11834836 PMID:11978762 PMID:12208142 PMID:15761120 PMID:16619239 More...

NCBI chr 2:5,023,902...5,069,210
Ensembl chr 2:5,025,453...5,068,862

ocular 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

mRNA, protein:increased expression:retina, muller cell

RGD

NCBI chr 7:119,360,106...119,384,119
Ensembl chr 7:119,360,146...119,386,736

G

apolipoprotein A-I

protein:increased expression:retina

RGD

NCBI chr 9:46,139,928...46,141,767
Ensembl chr 9:46,139,878...46,141,764

G

aquaporin 4

RGD

NCBI chr18:15,522,451...15,544,039
Ensembl chr18:15,522,553...15,544,039

G

BCL2-like 1

mRNA:increased expression:retina

RGD

NCBI chr 2:152,600,652...152,673,632
Ensembl chr 2:152,622,588...152,673,648

G

bone morphogenetic protein 4

RGD

NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126

G

complement component 1, q subcomponent, beta polypeptide

mRNA:increase expression:retina

RGD

NCBI chr 4:136,607,437...136,613,511
Ensembl chr 4:136,607,440...136,613,498

G

complement component 3

mRNA, protein:increased expression:retina

RGD

NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136

G

cyclin dependent kinase inhibitor 1A

RGD

NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701

G

collagen, type I, alpha 1

RGD

NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868

G

crystallin, alpha A

protein:decreased expression:retina

RGD

NCBI chr17:31,896,905...31,900,704
Ensembl chr17:31,896,781...31,900,707

G

crystallin, beta A1

mRNA:decreased expression:retina

RGD

NCBI chr11:77,609,440...77,616,119
Ensembl chr11:77,609,441...77,616,109

G

DNA-damage inducible transcript 3

CTD Direct Evidence: therapeutic

NCBI chr10:127,126,662...127,132,160
Ensembl chr10:127,126,643...127,132,157
Ensembl chr10:127,126,643...127,132,157

G

Fas cell surface death receptor

protein:increased expression:retina, microglial cell

RGD

NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172

G

GLI-Kruppel family member GLI1

mRNA, protein:increased expression:retinal ganglion cell

RGD

NCBI chr10:127,165,751...127,177,448
Ensembl chr10:127,165,751...127,177,843

G

matrix metallopeptidase 1a (interstitial collagenase)

treatment

RGD

NCBI chr 9:7,464,141...7,476,870
Ensembl chr 9:7,464,141...7,476,857

G

matrix metallopeptidase 1b (interstitial collagenase)

treatment

CTD Direct Evidence: therapeutic

NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047

G

matrix metallopeptidase 2

mRNA, protein:increased expression:eye

RGD

NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048

G

matrix metallopeptidase 9

mRNA, protein:increased expression:eye

RGD

NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770

G

myocilin

treatment

mRNA:decreased expression:eye, trabecular mesh (mouse)
associated with Glaucoma, Primary Open Angle; DNA:snp:cds:p.T377M (human)
mRNA:increased expression:retina (rat)

RGD

PMID:23322580 PMID:23322580 PMID:20107173 PMID:17102796

RGD:7394804, RGD:7394804, RGD:7394831, RGD:1601004

NCBI chr 1:162,466,719...162,477,263
Ensembl chr 1:162,466,724...162,477,262

G

nuclear receptor subfamily 3, group C, member 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:39,543,598...39,652,485
Ensembl chr18:39,543,598...39,652,474

G

OPA1, mitochondrial dynamin like GTPase

mRNA, protein:increased expression:retina

RGD

NCBI chr16:29,398,099...29,481,924
Ensembl chr16:29,398,152...29,473,702

G

SH3 and PX domains 2B

CTD Direct Evidence: marker/mechanism

NCBI chr11:32,297,777...32,378,189
Ensembl chr11:32,297,820...32,378,173

G

sonic hedgehog

RGD

NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254

G

smoothened, frizzled class receptor

mRNA, protein:increased expression:retinal ganglion cell

RGD

NCBI chr 6:29,735,480...29,761,359
Ensembl chr 6:29,735,502...29,761,364

G

superoxide dismutase 1, soluble

protein:decreased expression:retina

RGD

NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217

G

triosephosphate isomerase 1

protein:decreased expression:retina

RGD

NCBI chr 6:124,787,549...124,791,121
Ensembl chr 6:124,787,549...124,791,259

open-angle glaucoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adrenergic receptor, beta 2

severity

DNA:polymprphism:cds:p.Q27E(human)

RGD

NCBI chr18:62,310,784...62,313,052
Ensembl chr18:62,310,887...62,313,030

G

actin filament associated protein 1

susceptibility

DNA:SNPs: :rs4619890,rs4478172(human)

RGD

NCBI chr 5:36,050,713...36,161,267
Ensembl chr 5:36,050,663...36,161,267

G

apolipoprotein C-III

protein:increased expression: aqueous humor:

RGD

NCBI chr 9:46,144,348...46,146,934
Ensembl chr 9:46,144,231...46,146,934

G

apolipoprotein E

susceptibility

RGD

NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113

G

ataxin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:121,849,794...121,954,372
Ensembl chr 5:121,849,400...121,954,556

G

caveolin 1, caveolae protein

CTD Direct Evidence: marker/mechanism

NCBI chr 6:17,306,387...17,341,323
Ensembl chr 6:17,306,334...17,341,451

G

caveolin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:17,281,184...17,289,129
Ensembl chr 6:17,281,184...17,289,114

G

cyclin dependent kinase inhibitor 2B

disease_progression

DNA:SNP: :rs1063192 (human)

RGD

NCBI chr 4:89,224,526...89,229,269
Ensembl chr 4:89,224,536...89,229,276

G

collagen, type I, alpha 1

RGD

NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868

G

fibronectin type III domain containing 3B

CTD Direct Evidence: marker/mechanism

NCBI chr 3:27,470,284...27,765,469
Ensembl chr 3:27,470,311...27,765,456

G

forkhead box C1

CTD Direct Evidence: marker/mechanism

NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459

G

GDP-mannose 4, 6-dehydratase

susceptibility

DNA:SNPs: :rs11969985,rs2761233(human)

RGD

NCBI chr13:32,003,566...32,522,744
Ensembl chr13:32,003,562...32,522,723

G

interleukin 10

RGD

NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711

G

interleukin 2

protein:decreased expression:aqueous humor

RGD

NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108

G

Meis homeobox 2

susceptibility

DNA:SNP::rs28480457(human)

RGD

NCBI chr 2:115,691,745...115,897,925
Ensembl chr 2:115,693,545...115,896,320

G

methylenetetrahydrofolate reductase

susceptibility
no_association

DNA:SNP: :677C>T(human)
DNA:SNPs: : 677C>T, 1298A>C (human)

RGD

PMID:15808177 PMID:17558844

RGD:7387252, RGD:7387254

NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008

G

myocilin

DNA:missense mutation:cds:p.K423E (human)
OMIM:137750 | OMIM:177700 | OMIM:602429 | OMIM:603383 | OMIM:606689 | OMIM:608695 | OMIM:608696 | OMIM:609745 | OMIM:609887 | OMIM:610535 | OMIM:611274 | OMIM:611276 | OMIM:613100
ClinVar Annotator: match by term: Open-angle glaucoma
CTD Direct Evidence: marker/mechanism

MouseDO
ClinVar
CTD
RGD

PMID:9535666 PMID:9772276 PMID:10196380 PMID:11004290 PMID:11133859 More...

NCBI chr 1:162,466,719...162,477,263
Ensembl chr 1:162,466,724...162,477,262

G

optineurin

no_association

CTD Direct Evidence: marker/mechanism
DNA:missense mutations, SNP: :multiple
DNA:polymorphism: :p.M98K (human)

CTD
RGD

PMID:21059646 PMID:25096716 PMID:11834836 PMID:19096531 PMID:14627677 More...

RGD:1600995, RGD:6480513, RGD:6480510, RGD:6480509

NCBI chr 2:5,023,902...5,069,210
Ensembl chr 2:5,025,453...5,068,862

G

paraoxonase 1

DNA:missense mutations:cds:p.L55M, p.Q192R (human)

RGD

NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978

G

transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)

susceptibility

DNA:SNPs: :p. I333V, D637G (human)

RGD

NCBI chr17:34,406,530...34,416,199
Ensembl chr17:34,406,527...34,416,199

G

transmembrane and coiled-coil domains 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:167,136,239...167,161,547
Ensembl chr 1:167,135,947...167,161,547

G

tumor necrosis factor

susceptibility

DNA:SNP: :-308G>A(rs1800629)(human)

RGD

NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983

G

thioredoxin reductase 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:18,245,167...18,297,823
Ensembl chr16:18,245,134...18,297,823

G

WD repeat domain 36

CTD Direct Evidence: marker/mechanism

NCBI chr18:32,970,241...33,000,008
Ensembl chr18:32,970,278...33,000,647

persistent fetal circulation syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RIKEN cDNA 1190005I06 gene

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 8:121,335,341...121,361,129
Ensembl chr 8:121,335,341...121,374,371

G

RIKEN cDNA 1700018B08 gene

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 8:122,257,515...122,271,077
Ensembl chr 8:122,257,519...122,271,059

G

RIKEN cDNA 6430548M08 gene

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 8:120,840,891...120,892,046
Ensembl chr 8:120,840,891...120,892,045

G

adenosine deaminase domain containing 2

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 8:120,339,449...120,343,665
Ensembl chr 8:120,339,486...120,343,663

G

ATPase, Ca++ transporting, type 2C, member 2

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 8:120,426,748...120,484,457
Ensembl chr 8:120,426,748...120,484,456

G

CBY1 interacting BAR domain containing 2

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 8:120,893,136...120,904,225
Ensembl chr 8:120,893,136...120,904,205

G

coactosin like F-actin binding protein 1

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 8:120,535,953...120,567,318
Ensembl chr 8:120,535,961...120,567,283

G

cytochrome c oxidase subunit 4I1

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 8:121,394,964...121,400,948
Ensembl chr 8:121,394,961...121,400,946

G

carbamoyl-phosphate synthetase 1

CACD, OMIM:265380, DNA:polymorphism:T1405N
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:11407344 PMID:11407344

NCBI chr 1:67,151,294...67,270,426
Ensembl chr 1:67,162,185...67,270,418

G

cysteine-rich secretory protein LCCL domain containing 2

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 8:120,719,177...120,779,533
Ensembl chr 8:120,719,177...120,779,532

G

dynein, axonemal assembly factor 1

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 8:120,301,974...120,325,193
Ensembl chr 8:120,301,974...120,325,193

G

ER membrane protein complex subunit 8

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 8:121,380,653...121,394,826
Ensembl chr 8:121,380,653...121,395,312

G

F-box protein 31

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 8:122,276,182...122,305,607
Ensembl chr 8:122,276,179...122,305,545

G

Foxf1 adjacent non-coding developmental regulatory RNA

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 8:121,781,621...121,809,849
Ensembl chr 8:121,781,621...121,809,849

G

forkhead box C2

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 8:121,842,910...121,845,634
Ensembl chr 8:121,842,910...121,845,634

G

forkhead box F1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS AND OTHER CONGENITAL ANOMALIES | ClinVar Annotator: match by term: Alveolar capillary dysplasia with misalignment of pulmonary veins | ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
OMIM:265380

OMIM
CTD
ClinVar
MouseDO

PMID:15520767 PMID:19500772 PMID:23505205 PMID:24033266 PMID:25741868 More...

NCBI chr 8:121,811,100...121,814,883
Ensembl chr 8:121,811,125...121,814,883

G

forkhead box L1

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 8:121,854,572...121,857,383
Ensembl chr 8:121,854,679...121,857,383

G

GINS complex subunit 2

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 8:121,308,005...121,315,814
Ensembl chr 8:121,305,372...121,316,043

G

genetic suppressor element 1, coiled-coil protein

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 8:120,955,233...121,308,122
Ensembl chr 8:120,955,195...121,308,129

G

hydroxysteroid dehydrogenase like 1

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 8:120,288,717...120,301,930
Ensembl chr 8:120,288,728...120,301,922

G

interferon regulatory factor 8

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 8:121,463,097...121,483,433
Ensembl chr 8:121,463,097...121,483,433

G

integrin alpha M

DNA:missense mutation:CDS:p.E1071D (human)

RGD

NCBI chr 7:127,661,812...127,717,663
Ensembl chr 7:127,661,812...127,717,663

G

junctophilin 3

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 8:122,457,298...122,517,822
Ensembl chr 8:122,456,362...122,521,015

G

potassium voltage-gated channel, subfamily G, member 4

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 8:120,350,593...120,362,497
Ensembl chr 8:120,350,593...120,362,419

G

kelch-like 36

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 8:120,588,970...120,603,728
Ensembl chr 8:120,589,005...120,603,734

G

microtubule-associated protein 1 light chain 3 beta

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 8:122,317,177...122,325,499
Ensembl chr 8:122,317,100...122,325,499

G

membrane-bound transcription factor peptidase, site 1

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 8:120,234,890...120,285,603
Ensembl chr 8:120,234,895...120,285,474

G

MTOR associated protein, eak-7 homolog

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 8:120,486,802...120,505,173
Ensembl chr 8:120,486,815...120,505,155

G

malonyl-CoA decarboxylase

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 8:120,121,591...120,148,577
Ensembl chr 8:120,121,617...120,137,841

G

methenyltetrahydrofolate synthetase domain containing

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 8:121,818,367...121,835,152
Ensembl chr 8:121,818,367...121,835,131

G

N-terminal EF-hand calcium binding protein 2

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 8:120,173,431...120,199,379
Ensembl chr 8:120,173,458...120,199,379

G

nitric oxide synthase 3, endothelial cell

OMIM:265380

NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472

G

oxidative stress induced growth inhibitor 1

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 8:120,160,874...120,172,996
Ensembl chr 8:120,160,863...120,172,995

G

phosphatase and tensin homolog

OMIM:265380

NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560

G

solute carrier family 38, member 8

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 8:120,206,313...120,228,503
Ensembl chr 8:120,206,341...120,228,437

G

stimulated by retinoic acid gene 6

CTD Direct Evidence: marker/mechanism

NCBI chr 9:57,971,076...58,061,287
Ensembl chr 9:57,971,071...58,061,279

G

TATA-box binding protein associated factor, RNA polymerase I, C

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 8:120,324,713...120,331,945
Ensembl chr 8:120,324,610...120,331,961

G

ubiquitin specific peptidase 10

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 8:120,637,099...120,684,299
Ensembl chr 8:120,637,099...120,684,299

G

WAP four-disulfide core domain 1

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 8:120,393,104...120,414,759
Ensembl chr 8:120,393,104...120,414,961

G

zinc finger, CCHC domain containing 14

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 8:122,325,442...122,379,662
Ensembl chr 8:122,325,442...122,379,640

G

zinc finger, DHHC domain containing 7

ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia

NCBI chr 8:120,807,834...120,828,211
Ensembl chr 8:120,807,629...120,828,221

pigment dispersion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen, type XVIII, alpha 1

OMIM:600510

NCBI chr10:76,888,013...77,002,351
Ensembl chr10:76,888,012...77,002,382

G

glycoprotein (transmembrane) nmb

OMIM:600510

NCBI chr 6:49,013,449...49,044,413
Ensembl chr 6:49,013,480...49,047,863

pre-eclampsia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

onset

CTD Direct Evidence: marker/mechanism
DNA:insertion/deletion:intron 16:

CTD
RGD

PMID:17114810 PMID:20044877

NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790

G

activin receptor IIB

protein:increased expression:placenta (human)

RGD

NCBI chr 9:119,231,081...119,271,214
Ensembl chr 9:119,231,184...119,264,061

G

adducin 1

mRNA:increased expression:blood

RGD

NCBI chr 5:34,731,008...34,789,652
Ensembl chr 5:34,731,008...34,789,652

G

angiotensinogen

DNA:polymorphism: :p.M235T (human)
ClinVar Annotator: match by term: Preeclampsia, susceptibility to
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

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

RGD:1300394, RGD:13432363

NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445

G

aldo-keto reductase family 1, member C18

treatment

mRNA:decreased expression:blood:

RGD

PMID:19681734 PMID:25876805

RGD:10053633, RGD:11541124

NCBI chr13:4,182,614...4,200,645
Ensembl chr13:4,182,614...4,200,653

G

albumin

severity

RGD

NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461

G

alkB homolog 5, RNA demethylase

CTD Direct Evidence: marker/mechanism

NCBI chr11:60,428,509...60,449,338
Ensembl chr11:60,427,207...60,449,338

G

annexin A5

CTD Direct Evidence: therapeutic

NCBI chr 3:36,503,072...36,530,036
Ensembl chr 3:36,503,072...36,530,043

G

apelin receptor early endogenous ligand

OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592

NCBI chr 8:65,481,069...65,489,970
Ensembl chr 8:65,481,069...65,489,988

G

Rho GTPase activating protein 45

CTD Direct Evidence: marker/mechanism

NCBI chr10:79,852,505...79,867,305
Ensembl chr10:79,852,487...79,867,306

G

AT-rich interaction domain 1A

disease_progression

associated with Fetal Growth Retardation; protein:increased expression:placenta, nucleus (human)

RGD

NCBI chr 4:133,406,319...133,484,682
Ensembl chr 4:133,406,319...133,484,080

G

ankyrin repeat and SOCS box-containing 4

OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592

NCBI chr 6:5,383,386...5,433,022
Ensembl chr 6:5,383,386...5,433,022

G

ATPase, Ca++ transporting, plasma membrane 1

mRNA:decreased expression:placenta (human)

RGD

NCBI chr10:98,750,243...98,862,005
Ensembl chr10:98,750,268...98,862,005

G

ATPase, Ca++ transporting, plasma membrane 2

mRNA:decreased expression:placenta (human)

RGD

NCBI chr 6:113,720,803...114,019,574
Ensembl chr 6:113,720,792...114,019,574

G

ATPase, Ca++ transporting, plasma membrane 3

mRNA:decreased expression:placenta (human)

RGD

NCBI chr X:72,546,356...72,632,267
Ensembl chr X:72,546,692...72,614,611

G

ATPase, Ca++ transporting, plasma membrane 4

mRNA:decreased expression:placenta (human)

RGD

NCBI chr 1:133,630,416...133,728,755
Ensembl chr 1:133,627,195...133,728,779

G

complement component 3

treatment

RGD

NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136

G

calbindin 1

mRNA:decreased expression:placenta (human)

RGD

NCBI chr 4:15,881,264...15,906,709
Ensembl chr 4:15,881,264...15,908,064

G

C-C motif chemokine ligand 5

protein:increased secretion:serum (rat)

RGD

NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344

G

cellular communication network factor 3

protein:decreased expression:placenta (human)

RGD

NCBI chr15:54,609,306...54,617,158
Ensembl chr15:54,609,098...54,617,435

G

CD274 antigen

treatment

RGD

NCBI chr19:29,339,428...29,365,495
Ensembl chr19:29,344,855...29,365,495

G

CD40 antigen

protein:increased expression:blood, monocyte (human)

RGD

NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868

G

CD40 ligand

treatment

protein:increased expression:blood platelet (human)

RGD

PMID:26310940 PMID:23241952

RGD:11056772, RGD:11522719

NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402

G

CD46 antigen, complement regulatory protein

susceptibility
no_association

DNA:missense mutation:cds:p.A304V (human)

RGD

PMID:21445332 PMID:25710174

RGD:6483459, RGD:11352807

NCBI chr 1:194,721,279...194,781,149
Ensembl chr 1:194,719,134...194,774,557

G

cyclin dependent kinase inhibitor 1C

OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592

NCBI chr 7:143,012,076...143,014,735
Ensembl chr 7:143,012,076...143,014,787

G

CCAAT/enhancer binding protein alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 7:34,818,718...34,821,353
Ensembl chr 7:34,818,718...34,821,353

G

chitinase 3 like 1

protein:increased secretion:umbilical cord, serum (human)

RGD

NCBI chr 1:134,109,894...134,117,769
Ensembl chr 1:134,109,914...134,117,919

G

clusterin

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

RGD

NCBI chr14:66,206,093...66,218,992
Ensembl chr14:66,205,932...66,218,996

G

chemerin chemokine-like receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:113,750,415...113,792,971
Ensembl chr 5:113,750,415...113,788,487

G

catechol-O-methyltransferase

OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592

NCBI chr16:18,225,632...18,247,006
Ensembl chr16:18,225,636...18,245,602

G

corin, serine peptidase

CTD Direct Evidence: marker/mechanism

NCBI chr 5:72,457,291...72,661,884
Ensembl chr 5:72,457,368...72,661,816

G

ceruloplasmin

CTD Direct Evidence: marker/mechanism

NCBI chr 3:20,011,097...20,063,914
Ensembl chr 3:20,011,218...20,063,309

G

CREB binding protein

mRNA:decreased expression:placenta (human)

RGD

NCBI chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861

G

cystatin C

protein:increased expression:plasma (human)

RGD

NCBI chr 2:148,713,642...148,717,432
Ensembl chr 2:148,713,642...148,717,612

G

cubilin

associated with late term delivery; mRNA:decreased expression:placenta (human)

RGD

NCBI chr 2:13,281,149...13,496,687
Ensembl chr 2:13,281,149...13,496,624

G

cytochrome P450, family 11, subfamily b, polypeptide 2

DNA:missense mutation:cds:p.V386A (human)

RGD

NCBI chr15:74,722,467...74,728,080
Ensembl chr15:74,722,859...74,728,167

G

cytochrome P450, family 24, subfamily a, polypeptide 1

associated with hypoxia; protein:increased expression:placenta (human)
mRNA:increased expression:placenta (human)

RGD

PMID:22871339 PMID:36477942

RGD:401901075, RGD:401901174

NCBI chr 2:170,324,877...170,339,065
Ensembl chr 2:170,324,628...170,339,065

G

cytochrome P450, family 27, subfamily b, polypeptide 1

associated with hypoxia; protein:increased expression:placenta (human)
mRNA:increased expression:placenta (human)

RGD

PMID:22871339 PMID:36477942

RGD:401901075, RGD:401901174

NCBI chr10:126,884,115...126,891,897
Ensembl chr10:126,884,119...126,888,875

G

cytochrome P450, family 2, subfamily j, polypeptide 6

mRNA:increased expression:placenta, decidua

RGD

PMID:23155181 PMID:23155181

RGD:7243127, RGD:7243127

NCBI chr 4:96,404,375...96,449,835
Ensembl chr 4:96,404,375...96,441,898

G

cytochrome P450, family 2, subfamily j, polypeptide 9

mRNA:increased expression:placenta, decidua

NCBI chr 4:96,456,661...96,480,748
Ensembl chr 4:96,456,666...96,479,815

G

cytochrome P450, family 2, subfamily r, polypeptide 1

associated with hypoxia; protein:decreased expression:placenta (human)
mRNA:decreased expression:placenta (human)

RGD

PMID:22871339 PMID:36477942 PMID:32682061

RGD:401901075, RGD:401901174, RGD:401901078

NCBI chr 7:114,149,358...114,162,283
Ensembl chr 7:114,148,917...114,162,207

G

disabled 2 interacting protein

mRNA, protein:decreased expression:placenta (human)

RGD

NCBI chr 2:35,448,285...35,621,006
Ensembl chr 2:35,448,278...35,621,006

G

DDAH family member 2, ADMA independent

CTD Direct Evidence: marker/mechanism

NCBI chr17:35,278,011...35,281,075
Ensembl chr17:35,278,011...35,281,071

G

dynein, axonemal, heavy chain 8

mRNA:decreased expression:placenta (human)

RGD

NCBI chr17:30,845,909...31,094,736
Ensembl chr17:30,843,328...31,096,339

G

estrogen receptor-binding fragment-associated gene 9

protein:increased expression:decidua

RGD

NCBI chr15:44,482,574...44,504,916
Ensembl chr15:44,482,571...44,504,911

G

Epstein-Barr virus induced gene 3

ameliorates

RGD

NCBI chr17:56,259,623...56,264,022
Ensembl chr17:56,259,640...56,264,022

G

endothelin 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466

G

endothelin 2

RGD

NCBI chr 4:120,018,403...120,024,557
Ensembl chr 4:120,018,403...120,024,557

G

eukaryotic translation initiation factor 3, subunit D

CTD Direct Evidence: marker/mechanism

NCBI chr15:77,843,201...77,855,006
Ensembl chr15:77,843,198...77,855,013

G

endoglin

severity
treatment

protein:increased expression:serum (human)
protein:increased expression:serum (rat)
protein:increased expression:plasma (mouse)

RGD

PMID:23460287 PMID:22763474 PMID:22308016 PMID:20351341 PMID:23357179

RGD:7248767, RGD:7257530, RGD:7257524, RGD:7248777, RGD:7248768

NCBI chr 2:32,536,607...32,572,681
Ensembl chr 2:32,536,607...32,572,681

G

ectonucleoside triphosphate diphosphohydrolase 1

protein:decreased expression:abdominal fascia:

RGD

NCBI chr19:40,600,810...40,730,046
Ensembl chr19:40,600,810...40,730,046

G

endothelial PAS domain protein 1

RGD

NCBI chr17:87,061,292...87,140,838
Ensembl chr17:87,061,128...87,140,838

G

epoxide hydrolase 1, microsomal

DNA:polymorphism
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:11283205 PMID:12173035 PMID:11283205

NCBI chr 1:180,817,121...180,845,134
Ensembl chr 1:180,803,775...180,848,469

G

erb-b2 receptor tyrosine kinase 2

RGD

NCBI chr11:98,303,310...98,328,542
Ensembl chr11:98,303,296...98,328,542

G

estrogen receptor 2 (beta)

RGD

NCBI chr12:76,167,193...76,224,033
Ensembl chr12:76,167,193...76,224,033

G

coagulation factor II

severity

DNA:polymorphism: :20210G>A(human)

RGD

NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759

G

coagulation factor II thrombin receptor

RGD

NCBI chr13:95,738,288...95,754,974
Ensembl chr13:95,738,311...95,754,995

G

coagulation factor III

associated with Fetal Death;protein:increased expression:plasma

RGD

NCBI chr 3:121,517,186...121,528,701
Ensembl chr 3:121,517,186...121,528,697

G

coagulation factor V

severity

DNA:mutation: :1691G>A(human)

RGD

NCBI chr 1:163,979,396...164,048,539
Ensembl chr 1:163,979,407...164,047,846

G

fatty acid binding protein 4, adipocyte

protein:increased expression:blood serum (human)

RGD

NCBI chr 3:10,269,406...10,273,653
Ensembl chr 3:10,269,148...10,273,636

G

Fas cell surface death receptor

susceptibility

DNA:SNP:promoter:-670A>G (human)
DNA:SNP:promoter:-670A>G(rs1800682)(human)

RGD

PMID:15695771 PMID:30066360

RGD:12903973, RGD:14700669

NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172

G

Fas ligand

susceptibility

DNA:SNP:intron:124A>G(rs5030772)(human)

RGD

NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064

G

FMS-like tyrosine kinase 1

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

CTD
RGD

PMID:18679377 PMID:28628106 PMID:15472115 PMID:22262697

RGD:1582493, RGD:243048428

NCBI chr 5:147,498,414...147,663,419
Ensembl chr 5:147,498,414...147,662,821

G

guanidinoacetate methyltransferase

mRNA:increased expression:placenta

RGD

NCBI chr10:80,093,985...80,096,846
Ensembl chr10:80,093,985...80,096,846

G

GATA binding protein 2

onset

RGD

NCBI chr 6:88,170,873...88,184,014
Ensembl chr 6:88,170,873...88,184,014

G

glycine amidinotransferase (L-arginine:glycine amidinotransferase)

mRNA:increased expression:placenta

RGD

NCBI chr 2:122,424,954...122,441,758
Ensembl chr 2:122,424,948...122,441,784

G

vitamin D binding protein

mRNA:decreased expression:placenta (human)

RGD

NCBI chr 5:89,565,370...89,605,757
Ensembl chr 5:89,565,381...89,605,757

G

glutathione peroxidase 1

protein:decreased expression:placenta
mRNA:decreased expression:placenta

RGD

PMID:20303587 PMID:18852388 PMID:28705740

RGD:401827170, RGD:401827849, RGD:401827825

NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542

G

glutathione peroxidase 3

protein:decreased expression:placenta
mRNA:decreased expression:placenta

RGD

PMID:20303587 PMID:18852388 PMID:28705740

RGD:401827170, RGD:401827849, RGD:401827825

NCBI chr11:54,793,680...54,801,213
Ensembl chr11:54,793,279...54,801,203

G

glutathione peroxidase 4

protein:decreased expression:placenta
mRNA:decreased expression:placenta

RGD

PMID:20303587 PMID:18852388

RGD:401827170, RGD:401827849

NCBI chr10:79,883,000...79,892,273
Ensembl chr10:79,883,000...79,892,273

G

gelsolin

disease_progression

protein:decreased expression:blood plasma (human)

RGD

NCBI chr 2:35,146,371...35,197,914
Ensembl chr 2:35,146,392...35,197,904

G

glutathione S-transferase, pi 1

susceptibility

DNA:missense mutation:cds:p.I105V (human)

RGD

NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985

G

H19, imprinted maternally expressed transcript

ameliorates

RNA:increased expression:placenta (human)

RGD

PMID:31203154 PMID:29522949

RGD:213230155, RGD:242905198

NCBI chr 7:142,129,267...142,131,883
Ensembl chr 7:142,129,262...142,131,917

G

histocompatibility 2, class II antigen A, beta 1

susceptibility

DNA:polymorphism:cds:HLA-DQB1*04 (human)

RGD

NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393

G

histocompatibility 2, Q region locus 1

susceptibility

DNA:SNPs::multiple
DNA:polymorphism::HLA-A24:02(human)

PMID:19727231 PMID:33126849

RGD:401827097 RGD:401827098

NCBI chr17:35,539,503...35,547,118
Ensembl chr17:35,539,381...35,544,075

G

hypoxia inducible factor 1, alpha subunit

protein:increased expression:chorionic villus (human)

RGD

NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304

G

heme oxygenase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217

G

HNF1 homeobox A

susceptibility

associated with gestational diabetes;DNA:SNP:cd: p.I27L (rs1169288) (human)

RGD

NCBI chr 5:115,087,039...115,109,121
Ensembl chr 5:115,087,039...115,109,153

G

haptoglobin

severity

protein:increased expression
DNA:polymorphism

RGD

PMID:17220952 PMID:16879055

RGD:1626337, RGD:1626343

NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804

G

hydroxysteroid 11-beta dehydrogenase 1

susceptibility

DNA:SNPs,haplotype: (rs2235543,rs846910) (human)

RGD

NCBI chr 1:192,903,917...192,946,345
Ensembl chr 1:192,903,942...192,946,383

G

intercellular adhesion molecule 1

treatment

RGD

NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113

G

indoleamine 2,3-dioxygenase 1

OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592

NCBI chr 8:25,074,148...25,086,987
Ensembl chr 8:25,074,152...25,087,025

G

interleukin 1 receptor antagonist

protein:increased expression:serum (human)

RGD

NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506

G

interleukin 6

ameliorates

RGD

NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979

G

inhibin beta-A

CTD Direct Evidence: marker/mechanism

NCBI chr13:16,178,841...16,206,194
Ensembl chr13:16,186,436...16,206,206

G

iron-sulfur cluster assembly enzyme

mRNA:decreased expression:chorionic villus (human)

RGD

NCBI chr 5:113,910,479...113,916,349
Ensembl chr 5:113,910,809...113,916,349

G

integrin alpha 4

protein:increased expression:blood, granulocyte (rat)

RGD

NCBI chr 2:79,084,767...79,163,458
Ensembl chr 2:79,085,770...79,163,467

G

integrin alpha M

DNA:missense mutations:CDS:p.M441K (rs1143680), p.T1000N (rs41321249) (human)
protein:increased expression:neutrophil (human)
associated with Fetal Growth Retardation;mRNA:decreased expression:placenta (human)

RGD

PMID:33539617 PMID:18437152 PMID:32014817

RGD:329853770, RGD:329901825, RGD:329901659

NCBI chr 7:127,661,812...127,717,663
Ensembl chr 7:127,661,812...127,717,663

G

inositol 1,4,5-trisphosphate receptor 1

mRNA:decreased expression:placenta (human)

RGD

NCBI chr 6:108,190,044...108,528,077
Ensembl chr 6:108,190,057...108,528,070

G

inositol 1,4,5-triphosphate receptor 2

mRNA:decreased expression:placenta (human)

RGD

NCBI chr 6:146,009,797...146,403,757
Ensembl chr 6:146,009,797...146,403,721

G

inositol 1,4,5-triphosphate receptor 3

mRNA:decreased expression:placenta (human)

RGD

NCBI chr17:27,275,976...27,341,197
Ensembl chr17:27,276,278...27,341,197

G

potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4

protein:decreased expression:umbilical artery,umbilical vein (human)

RGD

NCBI chr 7:24,069,750...24,084,635
Ensembl chr 7:24,069,688...24,086,115

G

KiSS-1 metastasis-suppressor

RGD

NCBI chr 1:133,249,625...133,257,460
Ensembl chr 1:133,237,565...133,257,460
Ensembl chr 1:133,237,565...133,257,460

G

lipocalin 2

protein:increased expression:serum,urine

RGD

NCBI chr 2:32,274,649...32,277,751
Ensembl chr 2:32,274,645...32,278,264

G

leptin

protein:decreased expression:plasma

RGD

NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876

G

leptin receptor

protein:increased expression:placenta

RGD

NCBI chr 4:101,574,393...101,676,375
Ensembl chr 4:101,574,601...101,672,549

G

microRNA 126a

RNA:decreased expression:blood

RGD

NCBI chr 2:26,481,369...26,481,441
Ensembl chr 2:26,481,369...26,481,441

G

microRNA 144

miRNA:decreased expression:blood serum (human)

RGD

NCBI chr11:77,963,831...77,963,896
Ensembl chr11:77,963,831...77,963,896

G

microRNA 148a

ameliorates

RGD

NCBI chr 6:51,246,792...51,246,890
Ensembl chr 6:51,246,792...51,246,890

G

microRNA 152

miRNA:increased expression:placenta

RGD

NCBI chr11:96,741,219...96,741,291
Ensembl chr11:96,741,219...96,741,291

G

microRNA 155

miRNA:increased expression:blood serum (human)

RGD

NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092

G

microRNA 15b

miRNA:decreased expression:blood serum (human)

NCBI chr 3:68,917,105...68,917,168
Ensembl chr 3:68,917,105...68,917,168

G

microRNA 193a

miRNA:increased expression:blood serum (human)

NCBI chr11:79,602,795...79,602,860
Ensembl chr11:79,602,795...79,602,860

G

microRNA 204

miRNA:increased expression:blood serum (human)

NCBI chr19:22,727,969...22,728,036
Ensembl chr19:22,727,969...22,728,036

G

microRNA 210

disease_progression
severity

miRNA:increased expression:placenta (human)
miRNA:increased expression:blood serum (human)
miRNA:increased expression:chorionic villus (human)
miRNA:increased expression:blood plasma (human)

RGD

PMID:27746364 PMID:25017274 PMID:28700503 PMID:22840297 PMID:21388517

RGD:155260325, RGD:155882496, RGD:155882490, RGD:155631283, RGD:155269044

NCBI chr 7:140,801,297...140,801,406
Ensembl chr 7:140,801,297...140,801,406

G

microRNA 216a

ameliorates

RGD

NCBI chr11:28,707,012...28,707,083
Ensembl chr11:28,707,012...28,707,083

G

microRNA 25

miRNA:increased expression:blood serum (human)

NCBI chr 5:138,163,583...138,163,666
Ensembl chr 5:138,163,583...138,163,666

G

microRNA 296

miRNA:increased expression:blood serum (human)

NCBI chr 2:174,108,840...174,108,918
Ensembl chr 2:174,108,840...174,108,918

G

microRNA 32

miRNA:increased expression:blood serum (human)

NCBI chr 4:56,895,229...56,895,298
Ensembl chr 4:56,895,229...56,895,298

G

microRNA 335

miRNA:decreased expression:blood serum (human)

NCBI chr 6:30,741,298...30,741,395
Ensembl chr 6:30,741,298...30,741,395

G

microRNA 423

miRNA:increased expression:plasma

RGD

NCBI chr11:76,968,890...76,968,998
Ensembl chr11:76,968,890...76,968,998

G

microRNA 668

miRNA:decreased expression:blood serum (human)

NCBI chr12:109,701,166...109,701,231
Ensembl chr12:109,701,166...109,701,231

G

matrix metallopeptidase 2

mRNA, protein:decreased expression:placenta

RGD

NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048

G

matrix metallopeptidase 9

mRNA, protein:decreased expression:placenta

RGD

PMID:17083831 PMID:23776237

RGD:2290399, RGD:13204787

NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770

G

nitric oxide synthase 3, endothelial cell

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472

G

notch 2

OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592

NCBI chr 3:97,920,854...98,057,683
Ensembl chr 3:97,920,843...98,057,677

G

nuclear receptor subfamily 1, group H, member 3

exacerbates

mRNA, protein:increased expression:placenta (human)
mRNA:altered expression:placenta, adipose tissue (human)

RGD

PMID:28352810 PMID:20655109

RGD:401842369, RGD:401850787

NCBI chr 2:91,014,406...91,033,189
Ensembl chr 2:91,014,406...91,033,179

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 chr13:55,357,595...55,466,138
Ensembl chr13:55,357,595...55,466,138

G

8-oxoguanine DNA-glycosylase 1

mRNA:increased expression:placenta (human)

RGD

NCBI chr 6:113,303,959...113,311,149
Ensembl chr 6:113,303,933...113,312,029

G

programmed cell death 1

treatment

protein:increased expression:Treg cell

RGD

PMID:27277012 PMID:27277012

RGD:40886269, RGD:40886269

NCBI chr 1:93,966,027...93,980,278
Ensembl chr 1:93,966,027...93,980,278

G

phosphodiesterase 5A, cGMP-specific

RGD

NCBI chr 3:122,522,822...122,653,023
Ensembl chr 3:122,522,596...122,653,023

G

paternally expressed 10

onset

mRNA, protein:decreased expression:placenta (human)
mRNA, protein:increased expression:placenta (human)

RGD

PMID:37464405 PMID:25526181 PMID:22137777

RGD:401851069, RGD:401851074, RGD:401851073

NCBI chr 6:4,747,306...4,760,517
Ensembl chr 6:4,747,306...4,760,517

G

placental growth factor

RGD

PMID:21756887 PMID:20720407

RGD:6483577, RGD:6483779

NCBI chr12:85,213,413...85,224,087
Ensembl chr12:85,213,409...85,224,564

G

plasminogen activator, urokinase receptor

protein:increased expression:plasma

RGD

NCBI chr 7:24,161,857...24,175,393
Ensembl chr 7:24,161,909...24,175,393

G

promyelocytic leukemia

mRNA:decreased expression:placenta (human)

RGD

NCBI chr 9:58,125,359...58,157,077
Ensembl chr 9:58,125,359...58,157,069

G

peroxisome proliferator activated receptor gamma

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:34995009 PMID:15562025

NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360

G

protein C

RGD

NCBI chr18:32,256,179...32,272,623
Ensembl chr18:32,256,179...32,272,623

G

prostaglandin-endoperoxide synthase 1

OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592

NCBI chr 2:36,106,758...36,142,287
Ensembl chr 2:36,120,438...36,142,284

G

protein tyrosine phosphatase, non-receptor type 2

disease_progression

mRNA:decreased expression:placenta (human)

RGD

NCBI chr18:67,798,571...67,857,697
Ensembl chr18:67,798,581...67,857,665

G

retinoic acid receptor responder (tazarotene induced) 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:48,546,630...48,549,778
Ensembl chr 6:48,546,630...48,549,723

G

retinol binding protein 4, plasma

disease_progression

protein:increased expression:blood serum (human)
protein:decreased expression:umbilical cord,blood serum (human)

RGD

PMID:21173508 PMID:21299359

RGD:329845578, RGD:329845866

NCBI chr19:38,105,068...38,113,769
Ensembl chr19:38,105,077...38,113,729

G

roundabout guidance receptor 1

mRNA,protein:increased expression:placenta

RGD

NCBI chr16:71,824,406...72,844,379
Ensembl chr16:72,105,194...72,842,983

G

roundabout guidance receptor 4

mRNA,protein:increased expression:placenta

RGD

NCBI chr 9:37,313,198...37,325,319
Ensembl chr 9:37,313,193...37,326,411

G

ryanodine receptor 1, skeletal muscle

mRNA:decreased expression:placenta (human)

RGD

NCBI chr 7:28,702,765...28,824,599
Ensembl chr 7:28,702,769...28,824,604

G

ryanodine receptor 2, cardiac

mRNA:decreased expression:placenta (human)

RGD

NCBI chr13:11,567,985...12,121,831
Ensembl chr13:11,567,988...12,121,831

G

ryanodine receptor 3

mRNA:decreased expression:placenta (human)

RGD

NCBI chr 2:112,461,699...113,047,755
Ensembl chr 2:112,461,700...113,047,441

G

S100 calcium binding protein G

mRNA:decreased expression:placenta (human)

RGD

NCBI chr X:161,744,988...161,747,595
Ensembl chr X:161,744,988...161,747,595

G

sodium channel, nonvoltage-gated 1 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 6:125,286,657...125,321,906
Ensembl chr 6:125,297,622...125,321,906

G

serine (or cysteine) peptidase inhibitor, clade E, member 1

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

CTD
RGD

PMID:18679377 PMID:16952198

NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122

G

serine (or cysteine) peptidase inhibitor, clade F, member 2

protein:increased expression:urine

RGD

NCBI chr11:75,322,562...75,330,327
Ensembl chr11:75,322,558...75,330,417

G

solute carrier family 2 (facilitated glucose transporter), member 1

mRNA:decreased expression:chorionic villus (human)

RGD

NCBI chr 4:118,966,001...118,994,527
Ensembl chr 4:118,965,908...118,995,180

G

storkhead box 1

no_association

DNA:missense mutation:cds:p.Y153H (human)
human fetally expressed gene in a mouse model

RGD

PMID:15806103 PMID:23357179 PMID:17617193

RGD:11553888, RGD:7248768, RGD:11553890

NCBI chr10:62,494,822...62,561,907
Ensembl chr10:62,494,822...62,561,907

G

tissue factor pathway inhibitor

protein:increased expression:plasma:

RGD

NCBI chr 2:84,263,199...84,307,119
Ensembl chr 2:84,263,199...84,307,119

G

tissue inhibitor of metalloproteinase 1

mRNA, protein:increased expression:placenta

RGD

NCBI chr X:20,736,524...20,740,972
Ensembl chr X:20,736,405...20,740,974

G

toll-like receptor 3

protein:increased expression:placenta (rat)

RGD

NCBI chr 8:45,848,702...45,864,112
Ensembl chr 8:45,848,702...45,864,117

G

toll-like receptor 4

RGD

NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521

G

tumor necrosis factor

ameliorates

RGD

PMID:15901845 PMID:31203154

RGD:1580314, RGD:213230155

NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983

G

tumor necrosis factor receptor superfamily, member 1b

human protein in rat model

RGD

NCBI chr 4:144,938,938...144,973,453
Ensembl chr 4:144,940,033...144,973,440

G

transient receptor potential cation channel, subfamily V, member 5

mRNA:decreased expression:placenta (human)

RGD

NCBI chr 6:41,628,595...41,658,158
Ensembl chr 6:41,629,107...41,657,703

G

transient receptor potential cation channel, subfamily V, member 6

mRNA:decreased expression:placenta (human)

RGD

NCBI chr 6:41,597,553...41,613,339
Ensembl chr 6:41,597,558...41,613,339

G

urotensin 2

RGD

NCBI chr 4:151,081,554...151,086,267
Ensembl chr 4:151,081,554...151,086,267

G

vitamin D (1,25-dihydroxyvitamin D3) receptor

protein:decreased expression:placenta (human)
mRNA:decreased expression:placenta (human)
associated with Premature Birth; mRNA:increased expression:placenta (human)

RGD

PMID:22871339 PMID:36477942 PMID:32682061

RGD:401901075, RGD:401901174, RGD:401901078

NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511

G

vascular endothelial growth factor A

mRNA:decreased expression:chorionic villus (human)

RGD

PMID:16517614 PMID:22840297

RGD:1580566, RGD:155631283

NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295

Preeclampsia/Eclampsia 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

storkhead box 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Preeclampsia/eclampsia 4

OMIM
CTD
ClinVar

PMID:15806103 PMID:17325670 PMID:33116287

NCBI chr10:62,494,822...62,561,907
Ensembl chr10:62,494,822...62,561,907

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 chr 5:72,457,291...72,661,884
Ensembl chr 5:72,457,368...72,661,816

Preeclamptic Toxemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

platelet/endothelial cell adhesion molecule 1

RGD

NCBI chr11:106,545,039...106,606,107
Ensembl chr11:106,545,043...106,641,454

G

renin 1 structural

protein:increased activity:blood plasma (human)

RGD

NCBI chr 1:133,278,412...133,288,058
Ensembl chr 1:133,278,248...133,288,063

Pregnancy-Induced Hypertension

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

RGD

NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790

G

angiotensin converting enzyme 2

RGD

NCBI chr X:162,922,338...162,971,414
Ensembl chr X:162,922,328...162,971,416

G

angiotensinogen

RGD

NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445

G

endothelin 1

no_association

DNA:transversion:exon:p.K198N rs5370 (human)

RGD

PMID:19730395 PMID:11593097

RGD:4145063, RGD:4145070

NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466

G

glutathione peroxidase 3

protein:increased expression:plasma

RGD

NCBI chr11:54,793,680...54,801,213
Ensembl chr11:54,793,279...54,801,203

G

heme oxygenase 1

treatment

RGD

NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217

G

haptoglobin

CTD Direct Evidence: marker/mechanism

NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804

G

nitric oxide synthase 3, endothelial cell

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypertension, pregnancy-induced, susceptibility to

PMID:9737779 PMID:9894802 PMID:10475066 PMID:10510054 PMID:10514107 More...

NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472

G

retinol binding protein 4, plasma

protein:increased expression, decreased expression:blood serum, umbilical cord blood (human)

RGD

NCBI chr19:38,105,068...38,113,769
Ensembl chr19:38,105,077...38,113,729

G

tissue factor pathway inhibitor

mRNA:decreased expression:aorta:

RGD

NCBI chr 2:84,263,199...84,307,119
Ensembl chr 2:84,263,199...84,307,119

G

tumor necrosis factor

treatment

RGD

NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983

primary angle-closure glaucoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activin A receptor, type 1

sexual_dimorphism

DNA:missense mutation:SNP:rs12997 (human)

RGD

NCBI chr 2:58,336,450...58,456,840
Ensembl chr 2:58,278,656...58,457,169

G

anaphase promoting complex subunit 2

protein:increased expression:aqueous humor of eyeball (human)

RGD

NCBI chr 2:25,162,469...25,175,928
Ensembl chr 2:25,162,490...25,175,927

G

collagen, type XVIII, alpha 1

NCBI chr10:76,888,013...77,002,351
Ensembl chr10:76,888,012...77,002,382

G

myelin regulatory factor

DNA:mutations:multiple:

RGD

NCBI chr19:10,185,635...10,218,134
Ensembl chr19:10,185,636...10,218,112

primary congenital glaucoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytochrome P450, family 1, subfamily b, polypeptide 1

ClinVar Annotator: match by term: Primary congenital glaucoma

PMID:9463332 PMID:9497261 PMID:10227395 PMID:10655546 PMID:11184479 More...

NCBI chr17:80,014,369...80,022,490
Ensembl chr17:80,008,966...80,022,490

G

Cyp1b1 5' regulatory region

ClinVar Annotator: match by term: Primary congenital glaucoma

NCBI chr17:80,022,357...80,028,601

G

latent transforming growth factor beta binding protein 2

ClinVar Annotator: match by term: Primary congenital glaucoma

NCBI chr12:84,829,986...84,923,581
Ensembl chr12:84,829,986...84,923,306

Primary Congenital Glaucoma 3, D

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

latent transforming growth factor beta binding protein 2

ClinVar Annotator: match by term: Glaucoma 3, primary congenital, D | ClinVar Annotator: match by term: Glaucoma 3, primary congenital, d
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutations, nonsense mutations:CDS:multiple (human)
DNA:nonsense mutation:CDS:p.W807X (human)
DNA:missense mutations, frameshift mutation:CDS:p.D1010N, p.C1757Y, p.Q1143fs*35 (human)
DNA:frameshift mutations:CDS:p.S472fsX3, p.Y1793fsX55 (human)

OMIM
ClinVar
CTD
RGD

PMID:9536098 PMID:17576681 PMID:19361779 PMID:19656777 PMID:20179738 More...

RGD:156451378, RGD:156451372, RGD:156431215, RGD:156431212

NCBI chr12:84,829,986...84,923,581
Ensembl chr12:84,829,986...84,923,306

Primary Congenital Glaucoma 3, E

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TEK receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glaucoma 3, primary congenital, E | ClinVar Annotator: match by term: TEK-related condition

OMIM
CTD
ClinVar

PMID:25741868 PMID:27270174 PMID:28492532

NCBI chr 4:94,627,322...94,763,213
Ensembl chr 4:94,627,526...94,763,213

primary open angle glaucoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activin A receptor, type 1

DNA:SNP:3'utr: (rs12997)

RGD

NCBI chr 2:58,336,450...58,456,840
Ensembl chr 2:58,278,656...58,457,169

G

ADAM metallopeptidase with thrombospondin type 1 motif 10

Glaucoma, primary open angle, ADAMTS10-related

PMID:924743 PMID:1428571 PMID:2764345 PMID:2764346 PMID:2925324 More...

NCBI chr17:33,742,620...33,772,756
Ensembl chr17:33,743,178...33,772,756

G

ADAM metallopeptidase with thrombospondin type 1 motif 17

Glaucoma, primary open angle, ADAMTS17-related

PMID:26277300 PMID:26456751 PMID:26474315 PMID:26683476 PMID:26945802 More...

NCBI chr 7:66,487,387...66,802,373
Ensembl chr 7:66,489,483...66,802,919

G

adiponectin, C1Q and collagen domain containing

DNA:SNP: :rs2241766 (human)

RGD

NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778

G

adrenergic receptor, beta 2

onset

DNA:polymprphism:cds:p.R16G(human)

RGD

NCBI chr18:62,310,784...62,313,052
Ensembl chr18:62,310,887...62,313,030

G

apolipoprotein E

no_association
susceptibility

DNA:polymorphisms:promoter:
DNA:polymorphism:exon:

RGD

PMID:15525904 PMID:17706090

RGD:7495787, RGD:7771556

NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113

G

brain derived neurotrophic factor

protein:decreased expression:serum:

RGD

NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352

G

calcium/calmodulin-dependent protein kinase ID

ClinVar Annotator: match by term: Primary open angle glaucoma

NCBI chr 2:5,298,268...5,719,665
Ensembl chr 2:5,298,268...5,719,326

G

caspase recruitment domain family, member 10

ClinVar Annotator: match by term: Primary open angle glaucoma

NCBI chr15:78,659,323...78,687,261
Ensembl chr15:78,659,338...78,687,242

G

caveolin 1, caveolae protein

no_association

DNA:SNPs: :multiple
DNA:SNP:promoter:rs4236601 (human)

RGD

PMID:24572674 PMID:20835238 PMID:22876122

RGD:8661770, RGD:8661783, RGD:8661776

NCBI chr 6:17,306,387...17,341,323
Ensembl chr 6:17,306,334...17,341,451

G

caveolin 2

DNA:SNPs: :rs10278782, rs1052990 (human)

RGD

NCBI chr 6:17,281,184...17,289,129
Ensembl chr 6:17,281,184...17,289,114

G

coiled-coil domain containing 3

ClinVar Annotator: match by term: Primary open angle glaucoma

NCBI chr 2:5,142,587...5,235,682
Ensembl chr 2:5,142,587...5,235,689

G

cyclin dependent kinase inhibitor 1A

susceptibility
no_association

DNA:polymorphism:cds:p.S31R(human)

RGD

PMID:14738489 PMID:15807891

RGD:8661807, RGD:8661806

NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701

G

collagen, type VI, alpha 3

DNA:SNP:CDS:D563, rs112913396 (human)

RGD

NCBI chr 1:90,694,582...90,771,710
Ensembl chr 1:90,693,645...90,771,693

G

cytochrome P450, family 1, subfamily b, polypeptide 1

susceptibility
severity

DNA:snp:cds:p.L432V (human)
ClinVar Annotator: match by term: Primary open angle glaucoma
DNA:snp, missense mutations, haplotype:promoter, cds:multiple (human)
DNA:missense mutations:exons:p.P193L, p.E229K, p.M292K (human)
DNA:snp:cds:p.N453S (human)

PMID:10655546 PMID:15342693 PMID:18470941 PMID:19234632 PMID:22004014 More...

RGD:7800658, RGD:7800696, RGD:7800695, RGD:7800664

NCBI chr17:80,014,369...80,022,490
Ensembl chr17:80,008,966...80,022,490

G

endothelin 1

protein:increased expression:plasma (human)

RGD

NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466

G

elastin

RGD

NCBI chr 5:134,731,449...134,776,300
Ensembl chr 5:134,731,447...134,776,177

G

estrogen receptor 2 (beta)

severity

DNA:SNPs, haplotypes
DNA:snps:introns: IVS3 T>C, IVS8 A>G (rs1256031, rs4986938) (human)

RGD

PMID:18195227 PMID:20399928

RGD:8553056, RGD:8694092

NCBI chr12:76,167,193...76,224,033
Ensembl chr12:76,167,193...76,224,033

G

glutamate-ammonia ligase

protein:increases expression:aqueous humor

RGD

NCBI chr 1:153,775,692...153,785,469
Ensembl chr 1:153,775,690...153,785,469

G

glutathione S-transferase, mu 1

susceptibility
no_association

DNA:deletion:cds (human)

RGD

PMID:11040079 PMID:12873455

RGD:7488947, RGD:7488948

NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289

G

glutathione S-transferase, theta 1

susceptibility
no_association

DNA:deletion, haplotype:cds (human)
DNA:deletion:cds (human)

RGD

PMID:23747403 PMID:23206929 PMID:23827458

RGD:7794820, RGD:7794825, RGD:7794823

NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418

G

guanylate cyclase 1, soluble, alpha 1

OMIM:137760

NCBI chr 3:81,999,734...82,053,253
Ensembl chr 3:81,999,734...82,053,096

G

laminin, beta 2

DNA:SNP:CDS:E987K, rs34759087 (human)

RGD

NCBI chr 9:108,357,080...108,367,729
Ensembl chr 9:108,356,935...108,367,729

G

lysyl oxidase-like 1

no_association

DNA:SNP, haplotype: :rs1048661, rs2165241, rs3825942 (human)
DNA:SNPs: :rs1048661, rs2165241, rs3825942 (human)

RGD

PMID:19098994 PMID:18223248

RGD:7387330, RGD:7394723

NCBI chr 9:58,195,006...58,220,495
Ensembl chr 9:58,195,021...58,220,469

G

latent transforming growth factor beta binding protein 2

ClinVar Annotator: match by term: Primary open angle glaucoma

PMID:23401661 PMID:25741868 PMID:26425313 PMID:28492532

NCBI chr12:84,829,986...84,923,581
Ensembl chr12:84,829,986...84,923,306

G

mannose-binding lectin (protein C) 2

protein:increased expression:serum:

RGD

NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087

G

minichromosome maintenance 10 replication initiation factor

ClinVar Annotator: match by term: Primary open angle glaucoma

NCBI chr 2:4,995,535...5,017,602
Ensembl chr 2:4,994,525...5,017,602

G

matrix metallopeptidase 1a (interstitial collagenase)

no_association

DNA:SNP:promoter:rs1799750 (human)
DNA:insertion:promoter:g.-1607insG rs1799750 (human)

RGD

PMID:23441116 PMID:20808730

RGD:8549724, RGD:8549725

NCBI chr 9:7,464,141...7,476,870
Ensembl chr 9:7,464,141...7,476,857

G

matrix metallopeptidase 1b (interstitial collagenase)

no_association

DNA:insertion:promoter:g.-1607insG rs1799750 (human)
DNA:SNP:promoter:rs1799750 (human)

PMID:20808730 PMID:23441116

RGD:8549724 RGD:8549725

NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047

G

matrix metallopeptidase 9

no_association

DNA:insertion: :p.Q279R (rs17576) (human)

RGD

NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770

G

myocilin

severity
no_association
susceptibility

DNA:snp:promoter:g.-1000C>G (human)
ClinVar Annotator: match by term: Primary open angle glaucoma
protein:increased expression:aqueous humor
DNA:snps:cds:p.A363T (human)
DNA:snp:cds:pT377M (human)
DNA:snps:cds:multiple (human)
DNA:snps:promoter:g.-126T>G, g.-78T>G, g.-77G>A (human)
DNA:snp:cds:p.G367R (human)
DNA:snps, deletion:cds:p.G326S, p.T286R, p.Y453MfsX11 (human)
DNA:snp:cds:p.G252R (human)
DNA:snps:cds:p.G12R, p.V53A, p.T353I (human)
DNA:snp:cds:p.Q48H (human)
DNA:silent mutation, deletion:cds:p.F336F, c.1084delG (human)
DNA:mutations:multiple (human)
DNA:snps:cds:p.T209N, p.L215Q (human)
Y437H;human gene in mouse model
DNA:snps:cds:p.G357V, p.Q361X, p.Y430H (human)

PMID:9005853 PMID:9639450 PMID:10815160 PMID:11004290 PMID:11292420 More...

RGD:1600842, RGD:7401171, RGD:7401254, RGD:7401251, RGD:7401245, RGD:7401240, RGD:7401189, RGD:7401175, RGD:7401170, RGD:7401168, RGD:7401164, RGD:7401163, RGD:7394843, RGD:7394841, RGD:7394816, RGD:7394814, RGD:7394801, RGD:7394792, RGD:7394791, RGD:7394789, RGD:1600838, RGD:1600840

NCBI chr 1:162,466,719...162,477,263
Ensembl chr 1:162,466,724...162,477,262

G

nitric oxide synthase 3, endothelial cell

susceptibility
no_association

associated with Hypertension;DNA:snp:promoter:g.-786T>C (rs2070744) (human)
DNA:snps, haplotype:promoter, cds:g.-786T>C, p.E298D (human)
DNA:snp:intron:g.IVS15+1759C>A (rs3918188) (human)
DNA:snps, haplotype:promoter, intron:g.-457C>T, g.IVS5+1182G>A (rs11771443, rs3793342) (human)
DNA:snp:promoter:g.-690C>T (human)
DNA:duplication:intron:IVS4?-?+27 (human)
High Tension;DNA:snps:promoter, intron:g.-786T>C, g.IVS15+1759C>A (rs3918188) (human)

RGD

PMID:21670344 PMID:22561696 PMID:21245953 PMID:21245953 PMID:9493554 More...

RGD:7771542, RGD:7775055, RGD:7775039, RGD:7775039, RGD:7771575, RGD:7771573, RGD:7771543

NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472

G

8-oxoguanine DNA-glycosylase 1

DNA:SNP: :p.S326C (human)

RGD

NCBI chr 6:113,303,959...113,311,149
Ensembl chr 6:113,303,933...113,312,029

G

OPA1, mitochondrial dynamin like GTPase

no_association

DNA:polymorphism:intron:IVS8+4C>T (human)
DNA:SNPs: :rs166850, rs10451941 (human)
mRNA:decreased expression:blood, leukocyte
DNA:SNPs:exons, introns:multiple

RGD

PMID:17188046 PMID:18079692 PMID:21552501 PMID:16785854

RGD:7800685, RGD:7800721, RGD:7800718, RGD:7800713

NCBI chr16:29,398,099...29,481,924
Ensembl chr16:29,398,152...29,473,702

G

optineurin

susceptibility
no_association

DNA:polymorphisms, haplotype:exons:c.412G>A,603T>A(human)
ClinVar Annotator: match by term: Primary open angle glaucoma
DNA:SNPs:cds:p.T34T,E50K,M98K,R545Q, 691_692insAG,
DNA:polymorphism:exon:p.M98K(human)

OMIM
ClinVar
RGD

PMID:9536098 PMID:11834836 PMID:11978762 PMID:12208142 PMID:12789137 More...

RGD:7775041, RGD:7775049, RGD:7775043

NCBI chr 2:5,023,902...5,069,210
Ensembl chr 2:5,025,453...5,068,862

G

paraoxonase 1

susceptibility

DNA:snp:cds:p.Q192R (rs662) (human)

RGD

NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946

G

superoxide dismutase 2, mitochondrial

susceptibility

DNA:polymorphism: :rs2842980(human)

RGD

NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950

G

TANK-binding kinase 1

ClinVar Annotator: match by term: Primary open angle glaucoma

PMID:25700176 PMID:25741868 PMID:25803835 PMID:26476236 PMID:26581300 More...

NCBI chr10:121,382,360...121,422,699
Ensembl chr10:121,382,360...121,422,692

G

thrombospondin 1

DNA:SNP:CDS:N700S, rs2228262 (human)

RGD

NCBI chr 2:117,942,357...117,957,614
Ensembl chr 2:117,942,357...117,957,614

G

toll-like receptor 4

susceptibility

DNA:polymorphism,haplotype:multiple:

RGD

NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521

G

tumor necrosis factor

DNA:polymorphisms, haplotype:promoter:-857C>T, -863C>A (human)

RGD

NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983

G

transformation related protein 53

susceptibility

DNA:polymorphism:cds:p.R72P(human)

RGD

NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699

G

WD repeat domain 36

no_association
susceptibility

ClinVar Annotator: match by term: Primary open angle glaucoma
DNA:polymorphism:cds:p.D658G
DNA:polymorphisms:cds:p.D658G, N355S, A449T and R529Q (human)

PMID:25741868 PMID:28492532 PMID:16723468 PMID:16876519 PMID:15677485

RGD:8548463, RGD:8548466, RGD:8548465

NCBI chr18:32,970,241...33,000,008
Ensembl chr18:32,970,278...33,000,647

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 chr 1:60,444,927...60,521,104
Ensembl chr 1:60,448,778...60,520,317

G

acyl-Coenzyme A dehydrogenase, long-chain

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 1:66,869,998...66,902,468
Ensembl chr 1:66,869,998...66,902,436

G

activin A receptor, type II-like 1

ClinVar Annotator: match by term: Heritable pulmonary arterial hypertension

PMID:25741868 PMID:28492532 PMID:31727138

NCBI chr15:101,026,403...101,043,217
Ensembl chr15:101,026,403...101,043,217

G

a disintegrin and metallopeptidase domain 23

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 1:63,484,880...63,635,263
Ensembl chr 1:63,485,050...63,635,435

G

adenosine A2a receptor

OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344

NCBI chr10:75,152,711...75,170,626
Ensembl chr10:75,152,711...75,170,618

G

alsin Rho guanine nucleotide exchange factor

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074

NCBI chr 1:59,201,915...59,276,390
Ensembl chr 1:59,202,085...59,276,390

G

bone morphogenetic protein receptor, type 1B

ClinVar Annotator: match by term: Idiopathic pulmonary arterial hypertension

PMID:22374147 PMID:25741868 PMID:25758993 PMID:28492532

NCBI chr 3:141,540,230...141,875,335
Ensembl chr 3:141,542,897...141,875,186

G

bone morphogenetic protein receptor type 2

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Idiopathic and/or familial pulmonary arterial hypertension | ClinVar Annotator: match by term: Primary pulmonary hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, dexfenfluramine-associated | ClinVar Annotator: match by term: Pulmonary hypertension, primary, fenfluramine-associated
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344

CTD
ClinVar
MouseDO

PMID:3291115 PMID:9536098 PMID:10903931 PMID:10973254 PMID:11015450 More...

NCBI chr 1:59,802,721...59,917,240
Ensembl chr 1:59,802,559...59,918,173

G

calcium response factor

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 1:60,137,380...60,193,112
Ensembl chr 1:60,137,406...60,193,112

G

caveolin 1, caveolae protein

CTD Direct Evidence: marker/mechanism

NCBI chr 6:17,306,387...17,341,323
Ensembl chr 6:17,306,334...17,341,451

G

cyclin Y-like 1

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 1:64,729,963...64,764,805
Ensembl chr 1:64,729,614...64,764,803

G

CD28 antigen

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 1:60,785,547...60,812,521
Ensembl chr 1:60,755,959...60,812,518

G

cyclin dependent kinase 15

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074

NCBI chr 1:59,296,029...59,391,656
Ensembl chr 1:59,296,065...59,392,152

G

chemerin chemokine-like receptor 2

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 1:63,221,737...63,253,714
Ensembl chr 1:63,221,850...63,253,702

G

carbamoyl-phosphate synthetase 1

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 1:67,151,294...67,270,426
Ensembl chr 1:67,162,185...67,270,418

G

cAMP responsive element binding protein 1

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 1:64,571,963...64,643,707
Ensembl chr 1:64,571,804...64,643,707

G

crystallin, gamma A

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 1:65,139,552...65,142,532
Ensembl chr 1:65,139,548...65,142,532

G

crystallin, gamma B

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 1:65,119,381...65,121,449
Ensembl chr 1:65,119,378...65,121,447

G

crystallin, gamma C

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 1:65,110,684...65,112,691
Ensembl chr 1:65,110,684...65,112,848

G

crystallin, gamma D

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 1:65,101,001...65,102,598
Ensembl chr 1:65,101,031...65,102,611

G

cytotoxic T-lymphocyte-associated protein 4

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991

G

cytochrome P450, family 20, subfamily a, polypeptide 1

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 1:60,382,459...60,427,219
Ensembl chr 1:60,382,482...60,427,219

G

RIKEN cDNA D630023F18 gene

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 1:65,144,443...65,162,509
Ensembl chr 1:65,144,444...65,162,373

G

dystrotelin

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 1:63,662,010...63,726,086
Ensembl chr 1:63,662,010...63,726,086

G

eukaryotic translation elongation factor 1 beta 2

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 1:63,215,990...63,219,645
Ensembl chr 1:63,215,984...63,219,645

G

family with sequence similarity 117, member B

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 1:59,952,165...60,024,507
Ensembl chr 1:59,952,165...60,024,505

G

FAST kinase domains 2

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 1:63,769,758...63,792,544
Ensembl chr 1:63,769,773...63,793,814

G

F-box protein 32

mRNA:increased expression:vastus lateralis

RGD

NCBI chr15:58,039,275...58,078,288
Ensembl chr15:58,039,275...58,078,328

G

fibroblast growth factor receptor 2

protein:increased expression:lung (human)

RGD

NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079

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 8:121,811,100...121,814,883
Ensembl chr 8:121,811,125...121,814,883

G

frizzled class receptor 5

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 1:64,769,717...64,776,907
Ensembl chr 1:64,769,717...64,776,910

G

frizzled class receptor 7

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074

NCBI chr 1:59,521,306...59,526,114
Ensembl chr 1:59,521,583...59,526,114

G

predicted gene 13754

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 1:63,957,040...63,973,947
Ensembl chr 1:63,957,007...63,975,091

G

histone deacetylase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:129,409,897...129,436,516
Ensembl chr 4:129,409,897...129,436,506

G

histone deacetylase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 1:91,856,501...92,123,424
Ensembl chr 1:91,856,501...92,123,421

G

histone deacetylase 5

CTD Direct Evidence: marker/mechanism

NCBI chr11:102,085,244...102,120,968
Ensembl chr11:102,085,258...102,120,992

G

islet cell autoantigen 1-like

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 1:60,024,955...60,082,646
Ensembl chr 1:60,021,649...60,082,343

G

inducible T cell co-stimulator

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 1:60,999,909...61,039,481
Ensembl chr 1:61,017,086...61,039,479

G

inhibitor of DNA binding 1, HLH protein

protein:decreased expression:lung, wall of arteriole (human)

RGD

NCBI chr 2:152,578,171...152,579,330
Ensembl chr 2:152,578,171...152,579,330

G

isocitrate dehydrogenase 1 (NADP+), soluble

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 1:65,197,775...65,225,638
Ensembl chr 1:65,197,775...65,225,659

G

INO80 complex subunit D

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 1:63,086,960...63,153,693
Ensembl chr 1:62,997,577...63,153,849

G

KAT8 regulatory NSL complex subunit 1-like

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 1:66,758,402...66,856,754
Ensembl chr 1:66,758,407...66,856,721

G

potassium channel, subfamily K, member 3

CTD Direct Evidence: marker/mechanism

NCBI chr 5:30,745,514...30,782,614
Ensembl chr 5:30,745,514...30,782,615

G

Kruppel-like transcription factor 7 (ubiquitous)

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 1:64,068,607...64,161,504
Ensembl chr 1:64,068,606...64,161,441

G

LanC (bacterial lantibiotic synthetase component C)-like 1

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 1:67,039,676...67,078,049
Ensembl chr 1:67,039,676...67,078,031

G

microtubule-associated protein 2

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 1:66,214,337...66,481,742
Ensembl chr 1:66,214,432...66,481,742

G

malate dehydrogenase 1B, NAD (soluble)

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 1:63,726,732...63,769,707
Ensembl chr 1:63,737,978...63,769,477

G

methyltransferase 21A, HSPA lysine

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 1:64,645,632...64,661,926
Ensembl chr 1:64,645,632...64,656,401

G

mitofusin 1

protein:decreased expression:vastus lateralis

RGD

NCBI chr 3:32,583,594...32,633,384
Ensembl chr 3:32,583,614...32,633,388

G

mitofusin 2

protein:decreased expression:vastus lateralis

RGD

NCBI chr 4:147,958,043...147,989,527
Ensembl chr 4:147,958,056...147,989,161

G

microRNA 23a

RNA:increased expression:serum

RGD

NCBI chr 8:84,935,147...84,935,221
Ensembl chr 8:84,935,147...84,935,221

G

myosin, light polypeptide 1

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 1:66,963,454...66,987,091
Ensembl chr 1:66,963,454...66,984,563

G

neurobeachin like 1

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 1:60,217,910...60,377,487
Ensembl chr 1:60,219,758...60,377,487

G

NADH:ubiquinone oxidoreductase core subunit S1

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 1:63,182,751...63,215,981
Ensembl chr 1:63,182,755...63,215,992

G

NOP58 ribonucleoprotein

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074

NCBI chr 1:59,724,165...59,751,352
Ensembl chr 1:59,724,130...59,758,203

G

neuropilin 2

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 1:62,742,476...62,857,851
Ensembl chr 1:62,742,444...62,857,854

G

par-3 family cell polarity regulator beta

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 1:61,677,825...62,681,443
Ensembl chr 1:61,677,983...62,681,443

G

phosphoinositide kinase, FYVE type zinc finger containing

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 1:65,225,796...65,317,855
Ensembl chr 1:65,225,842...65,317,854

G

pleckstrin homology domain containing, family M, member 3

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 1:64,828,279...64,995,983
Ensembl chr 1:64,825,142...64,995,983

G

peroxisome proliferator activated receptor gamma

OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344

NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360

G

prostaglandin I2 (prostacyclin) 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)

RGD

NCBI chr 2:167,045,114...167,095,069
Ensembl chr 2:167,033,725...167,082,524

G

parathyroid hormone 2 receptor

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 1:65,317,921...65,428,784
Ensembl chr 1:65,321,215...65,428,403

G

Ras association (RalGDS/AF-6) and pleckstrin homology domains 1

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 1:60,509,997...60,606,233
Ensembl chr 1:60,521,451...60,606,263

G

replication factor C (activator 1) 1

mRNA:increased expression:lung (human)

RGD

NCBI chr 5:65,419,195...65,492,988
Ensembl chr 5:65,419,193...65,493,013

G

ribulose-5-phosphate-3-epimerase

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 1:66,739,957...66,758,964
Ensembl chr 1:66,739,990...66,758,964

G

ryanodine receptor 1, skeletal muscle

protein:increased phosphorylation:vastus lateralis

RGD

NCBI chr 7:28,702,765...28,824,599
Ensembl chr 7:28,702,769...28,824,604

G

SMAD family member 9

CTD Direct Evidence: marker/mechanism
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344

NCBI chr 3:54,662,873...54,709,162
Ensembl chr 3:54,663,003...54,708,678

G

SRY (sex determining region Y)-box 17

protein:decreased expression:pulmonary artery (human)

RGD

NCBI chr 1:4,561,154...4,567,624
Ensembl chr 1:4,561,154...4,567,577

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 chr 1:59,678,593...59,709,993
Ensembl chr 1:59,625,717...59,709,993

G

tumor necrosis factor (ligand) superfamily, member 4

OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344

NCBI chr 1:161,223,009...161,245,777
Ensembl chr 1:161,222,980...161,245,981

G

tripartite motif-containing 63

mRNA, protein:increased expression:vastus lateralis

RGD

NCBI chr 4:134,042,431...134,056,940
Ensembl chr 4:134,042,431...134,056,940

G

unc-80, NALCN activator

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 1:66,507,093...66,738,309
Ensembl chr 1:66,507,526...66,738,307

G

vasoactive intestinal polypeptide

OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344

NCBI chr10:5,589,131...5,597,617
Ensembl chr10:5,589,218...5,597,617

G

WD repeat domain 12

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 1:60,110,520...60,137,659
Ensembl chr 1:60,108,944...60,137,804

G

zinc finger, DBF-type containing 2

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 1:63,239,517...63,353,735
Ensembl chr 1:63,312,424...63,353,735

Primary Pulmonary Hypertension, 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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 chr17:24,570,997...24,629,178
Ensembl chr17:24,570,924...24,629,175

G

ATP-binding cassette, sub-family C member 8

ClinVar Annotator: match by term: Pulmonary arterial hypertension

PMID:25117148 PMID:25741868

NCBI chr 7:45,753,952...45,829,441
Ensembl chr 7:45,753,947...45,829,457

G

abl interactor 2

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:60,444,927...60,521,104
Ensembl chr 1:60,448,778...60,520,317

G

activin A receptor, type II-like 1

ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1

PMID:9245985 PMID:11484689 PMID:12700602 PMID:14684682 PMID:15024723 More...

NCBI chr15:101,026,403...101,043,217
Ensembl chr15:101,026,403...101,043,217

G

alsin Rho guanine nucleotide exchange factor

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:59,201,915...59,276,390
Ensembl chr 1:59,202,085...59,276,390

G

aldehyde oxidase 1

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:58,068,963...58,145,569
Ensembl chr 1:58,069,090...58,145,572

G

ATPase type 13A3

ClinVar Annotator: match by term: Pulmonary arterial hypertension

PMID:25741868 PMID:28492532 PMID:30679663 PMID:31727138 PMID:34493544 More...

NCBI chr16:30,131,241...30,207,674
Ensembl chr16:30,131,241...30,224,793

G

bone morphogenetic protein receptor, type 1A

ClinVar Annotator: match by term: Pulmonary arterial hypertension

PMID:24121792 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31727138

NCBI chr14:34,133,018...34,225,335
Ensembl chr14:34,132,691...34,225,298

G

bone morphogenetic protein receptor type 2

ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia

PMID:3291115 PMID:9536098 PMID:10903931 PMID:10973254 PMID:11015450 More...

NCBI chr 1:59,802,721...59,917,240
Ensembl chr 1:59,802,559...59,918,173

G

basic leucine zipper and W2 domains 1

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:58,432,057...58,446,513
Ensembl chr 1:58,432,057...58,446,512

G

C2 calcium dependent domain containing 6

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:59,036,275...59,134,283
Ensembl chr 1:59,036,275...59,134,059

G

caspase 8

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:58,834,553...58,886,663
Ensembl chr 1:58,834,533...58,886,662

G

CD28 antigen

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:60,785,547...60,812,521
Ensembl chr 1:60,755,959...60,812,518

G

cyclin dependent kinase 15

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:59,296,029...59,391,656
Ensembl chr 1:59,296,065...59,392,152

G

CASP8 and FADD-like apoptosis regulator

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:58,750,353...58,798,043
Ensembl chr 1:58,750,667...58,798,043

G

CDC-like kinase 1

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:58,451,147...58,463,247
Ensembl chr 1:58,449,348...58,463,225

G

cytotoxic T-lymphocyte-associated protein 4

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991

G

cytochrome P450, family 20, subfamily a, polypeptide 1

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:60,382,459...60,427,219
Ensembl chr 1:60,382,482...60,427,219

G

eukaryotic translation initiation factor 2 alpha kinase 4

ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1

PMID:25741868 PMID:28492532 PMID:32581362

NCBI chr 2:118,219,065...118,305,715
Ensembl chr 2:118,219,099...118,305,715

G

endoglin

ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1

PMID:10625079 PMID:15517393 PMID:15521985 PMID:15879500 PMID:16690726 More...

NCBI chr 2:32,536,607...32,572,681
Ensembl chr 2:32,536,607...32,572,681

G

family with sequence similarity 117, member B

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:59,952,165...60,024,507
Ensembl chr 1:59,952,165...60,024,505

G

flagellum associated containing coiled-coil domains 1

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:58,696,085...58,735,167
Ensembl chr 1:58,686,062...58,735,148

G

frizzled class receptor 7

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:59,521,306...59,526,114
Ensembl chr 1:59,521,583...59,526,114

G

growth differentiation factor 2

ClinVar Annotator: match by term: Pulmonary arterial hypertension

PMID:25741868 PMID:26801773 PMID:28492532 PMID:31661308 PMID:31727138

NCBI chr14:33,662,996...33,669,155
Ensembl chr14:33,662,996...33,669,155

G

gap junction protein, beta 2

ClinVar Annotator: match by term: Pulmonary arterial hypertension

PMID:17666888 PMID:25741868 PMID:30755392

NCBI chr14:57,336,059...57,342,159
Ensembl chr14:57,336,057...57,342,159

G

predicted gene, 26287

ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1

NCBI chr 1:59,743,417...59,743,497
Ensembl chr 1:59,743,417...59,743,497

G

predicted gene, 26293

ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1

NCBI chr 1:59,731,668...59,731,751
Ensembl chr 1:59,731,668...59,731,751

G

hyccin PI4KA lipid kinase complex subunit 2

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:58,561,965...58,625,492
Ensembl chr 1:58,561,965...58,625,482

G

HYDIN, axonemal central pair apparatus protein

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 8:110,993,600...111,336,885
Ensembl chr 8:110,993,609...111,336,885

G

islet cell autoantigen 1-like

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:60,024,955...60,082,646
Ensembl chr 1:60,021,649...60,082,343

G

inducible T cell co-stimulator

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:60,999,909...61,039,481
Ensembl chr 1:61,017,086...61,039,479

G

potassium voltage-gated channel, shaker-related subfamily, member 5

ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1

PMID:20018952 PMID:21685056 PMID:23861362 PMID:24068186 PMID:25076992 More...

NCBI chr 6:126,509,514...126,512,518
Ensembl chr 6:126,509,514...126,512,375

G

potassium channel, subfamily K, member 3

ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1

PMID:23883380 PMID:32581362

NCBI chr 5:30,745,514...30,782,614
Ensembl chr 5:30,745,514...30,782,615

G

potassium channel tetramerisation domain containing 18

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:57,994,260...58,009,298
Ensembl chr 1:57,994,260...58,058,115

G

membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:59,160,094...59,202,548
Ensembl chr 1:59,160,094...59,202,548

G

neurobeachin like 1

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:60,217,910...60,377,487
Ensembl chr 1:60,219,758...60,377,487

G

NADH:ubiquinone oxidoreductase subunit B3

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:58,625,556...58,635,123
Ensembl chr 1:58,625,543...58,635,123

G

Ngg1 interacting factor 3-like 1 (S. pombe)

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:58,484,310...58,501,435
Ensembl chr 1:58,484,310...58,520,975

G

NOP58 ribonucleoprotein

ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1

PMID:23579436 PMID:32581362

NCBI chr 1:59,724,165...59,751,352
Ensembl chr 1:59,724,130...59,758,203

G

notch 1

ClinVar Annotator: match by term: Pulmonary arterial hypertension

PMID:15472075 PMID:16614245 PMID:18593716 PMID:19245433 PMID:19635999 More...

NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675

G

notch 3

ClinVar Annotator: match by term: Pulmonary arterial hypertension

PMID:22006983 PMID:22153900 PMID:22159056 PMID:24086431 PMID:25741868 More...

NCBI chr17:32,339,794...32,385,869
Ensembl chr17:32,339,794...32,385,826

G

origin recognition complex, subunit 2

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:58,501,933...58,544,114
Ensembl chr 1:58,501,930...58,544,268

G

phenylalanine hydroxylase

ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1

PMID:1301187 PMID:1682234 PMID:1769645 PMID:2044609 PMID:2574153 More...

NCBI chr10:87,357,657...87,419,999
Ensembl chr10:87,357,657...87,419,998

G

PHD finger protein 6

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr X:52,001,091...52,045,838
Ensembl chr X:52,001,143...52,045,820

G

PMS1 homolog2, mismatch repair system component

ClinVar Annotator: match by term: Pulmonary arterial hypertension

PMID:6144131 PMID:16144131 PMID:16283678 PMID:18602922 PMID:19283792 More...

NCBI chr 5:143,846,379...143,922,538
Ensembl chr 5:143,846,782...143,870,786
Ensembl chr 5:143,846,782...143,870,786

G

peptidylprolyl isomerase (cyclophilin)-like 3

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:58,470,152...58,484,878
Ensembl chr 1:58,470,153...58,484,645

G

Ras association (RalGDS/AF-6) and pleckstrin homology domains 1

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:60,509,997...60,606,233
Ensembl chr 1:60,521,451...60,606,263

G

shugoshin 2A

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:58,024,499...58,065,436
Ensembl chr 1:58,035,130...58,065,058

G

SMAD family member 1

ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1

NCBI chr 8:80,065,024...80,126,057
Ensembl chr 8:80,065,024...80,126,147

G

SMAD family member 4

ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1

PMID:21898662 PMID:24728327 PMID:25502805 PMID:25559809 PMID:25741868 More...

NCBI chr18:73,767,861...73,836,862
Ensembl chr18:73,772,080...73,836,851

G

SMAD family member 9

ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1

NCBI chr 3:54,662,873...54,709,162
Ensembl chr 3:54,663,003...54,708,678

G

small nucleolar RNA, C/D box 11

ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1

NCBI chr 1:59,743,967...59,744,029
Ensembl chr 1:59,743,949...59,744,032

G

small nucleolar RNA, C/D box 70

ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1

NCBI chr 1:59,731,117...59,731,169
Ensembl chr 1:59,731,093...59,731,179

G

SRY (sex determining region Y)-box 17

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:4,561,154...4,567,624
Ensembl chr 1:4,561,154...4,567,577

G

spermatogenesis associated, serine-rich 2-like

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:57,813,261...57,987,557
Ensembl chr 1:57,813,321...57,987,553

G

STE20-related kinase adaptor beta

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:59,012,681...59,034,281
Ensembl chr 1:59,012,681...59,034,874

G

small ubiquitin-like modifier 1

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:59,678,593...59,709,993
Ensembl chr 1:59,625,717...59,709,993

G

T-box 4

ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1

PMID:9536098 PMID:15106123 PMID:16199547 PMID:17576681 PMID:23592887 More...

NCBI chr11:85,777,193...85,806,923
Ensembl chr11:85,777,248...85,806,923

G

transmembrane protein 237

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:59,139,743...59,159,567
Ensembl chr 1:59,139,749...59,159,567

G

topoisomerase (DNA) II binding protein 1

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 9:103,182,351...103,227,627
Ensembl chr 9:103,182,414...103,227,627

G

trafficking protein, kinesin binding 2

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:58,939,608...59,013,509
Ensembl chr 1:58,939,608...59,012,589

G

WD repeat domain 12

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:60,110,520...60,137,659
Ensembl chr 1:60,108,944...60,137,804

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

PMID:9536098 PMID:16199547 PMID:17576681 PMID:19211612 PMID:19419974 More...

NCBI chr 3:54,662,873...54,709,162
Ensembl chr 3:54,663,003...54,708,678

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

NCBI chr 3:141,540,230...141,875,335
Ensembl chr 3:141,542,897...141,875,186

G

caveolin 1, caveolae protein

ClinVar Annotator: match by term: Pulmonary hypertension, primary, 3

PMID:22474227 PMID:25741868 PMID:28492532 PMID:29231014 PMID:31727138

NCBI chr 6:17,306,387...17,341,323
Ensembl chr 6:17,306,334...17,341,451

Primary Pulmonary Hypertension, 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

potassium 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 chr 5:30,745,514...30,782,614
Ensembl chr 5:30,745,514...30,782,615

Primary Pulmonary Hypertension, 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase type 13A3

ClinVar Annotator: match by term: Pulmonary hypertension, primary, autosomal recessive

PMID:25741868 PMID:28492532 PMID:30679663 PMID:31727138 PMID:34493544 More...

NCBI chr16:30,131,241...30,207,674
Ensembl chr16:30,131,241...30,224,793

Progressive Renal Failure with Hypertension

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcitonin/calcitonin-related polypeptide, alpha

RGD

NCBI chr 7:114,225,223...114,236,145
Ensembl chr 7:114,230,713...114,235,592

Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 4 (anion exchanger), member 4

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: RTA, PROXIMAL, AUTOSOMAL RECESSIVE

OMIM
CTD
ClinVar

PMID:10545938 PMID:11274232 PMID:18658147 PMID:20197274 PMID:21234596 More...

NCBI chr 5:88,941,717...89,387,515
Ensembl chr 5:89,034,345...89,387,512

Pulmonary Arterial Hypertension

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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 chr17:24,570,997...24,629,178
Ensembl chr17:24,570,924...24,629,175

G

ATP-binding cassette, sub-family C member 8

ClinVar Annotator: match by term: Pulmonary arterial hypertension

PMID:25117148 PMID:25741868

NCBI chr 7:45,753,952...45,829,441
Ensembl chr 7:45,753,947...45,829,457

G

abl interactor 2

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:60,444,927...60,521,104
Ensembl chr 1:60,448,778...60,520,317

G

activin A receptor, type II-like 1

ClinVar Annotator: match by term: Pulmonary arterial hypertension

PMID:11484689 PMID:15024723 PMID:15517393 PMID:15687131 PMID:16429404 More...

NCBI chr15:101,026,403...101,043,217
Ensembl chr15:101,026,403...101,043,217

G

aryl-hydrocarbon receptor

severity

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

CTD
RGD

PMID:33836606 PMID:33836606

NCBI chr12:35,547,978...35,584,988
Ensembl chr12:35,547,973...35,585,037

G

alpha hemoglobin stabilizing protein

mRNA:altered expression: (human)

RGD

NCBI chr 7:127,902,016...127,902,926
Ensembl chr 7:127,901,969...127,902,930

G

alsin Rho guanine nucleotide exchange factor

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:59,201,915...59,276,390
Ensembl chr 1:59,202,085...59,276,390

G

aldehyde oxidase 1

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:58,068,963...58,145,569
Ensembl chr 1:58,069,090...58,145,572

G

apelin

treatment

RGD

NCBI chr X:47,114,023...47,123,730
Ensembl chr X:47,114,023...47,123,730

G

ATPase type 13A3

ClinVar Annotator: match by term: Pulmonary arterial hypertension

PMID:25741868 PMID:28492532 PMID:30679663 PMID:31727138 PMID:34493544 More...

NCBI chr16:30,131,241...30,207,674
Ensembl chr16:30,131,241...30,224,793

G

axin 2

exacerbates

RGD

NCBI chr11:108,808,687...108,841,609
Ensembl chr11:108,811,175...108,841,609

G

bone morphogenetic protein 7

protein:increased expression:lung, pulmonary artery (rat)

RGD

NCBI chr 2:172,709,805...172,782,114
Ensembl chr 2:172,709,805...172,782,114

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 chr14:34,133,018...34,225,335
Ensembl chr14:34,132,691...34,225,298

G

bone morphogenetic protein receptor, type 1B

ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease

PMID:25741868 PMID:30029678

NCBI chr 3:141,540,230...141,875,335
Ensembl chr 3:141,542,897...141,875,186

G

bone morphogenetic protein receptor type 2

treatment

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease

CTD
ClinVar
RGD

PMID:3291115 PMID:10903931 PMID:10973254 PMID:11015450 PMID:11115378 More...

NCBI chr 1:59,802,721...59,917,240
Ensembl chr 1:59,802,559...59,918,173

G

basic leucine zipper and W2 domains 1

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:58,432,057...58,446,513
Ensembl chr 1:58,432,057...58,446,512

G

C2 calcium dependent domain containing 6

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:59,036,275...59,134,283
Ensembl chr 1:59,036,275...59,134,059

G

calcium response factor

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:60,137,380...60,193,112
Ensembl chr 1:60,137,406...60,193,112

G

caspase 8

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:58,834,553...58,886,663
Ensembl chr 1:58,834,533...58,886,662

G

caveolin 1, caveolae protein

ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease

PMID:25741868 PMID:30029678

NCBI chr 6:17,306,387...17,341,323
Ensembl chr 6:17,306,334...17,341,451

G

CD28 antigen

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:60,785,547...60,812,521
Ensembl chr 1:60,755,959...60,812,518

G

cadherin 2

mRNA:increased expression:lung

RGD

NCBI chr18:16,721,934...16,942,303
Ensembl chr18:16,721,934...16,942,303

G

cyclin dependent kinase 15

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:59,296,029...59,391,656
Ensembl chr 1:59,296,065...59,392,152

G

CASP8 and FADD-like apoptosis regulator

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:58,750,353...58,798,043
Ensembl chr 1:58,750,667...58,798,043

G

CDC-like kinase 1

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:58,451,147...58,463,247
Ensembl chr 1:58,449,348...58,463,225

G

ceruloplasmin

associated with systemic scleroderma;protein:increased expression:serum

RGD

NCBI chr 3:20,011,097...20,063,914
Ensembl chr 3:20,011,218...20,063,309

G

cAMP responsive element binding protein 1

treatment

RGD

NCBI chr 1:64,571,963...64,643,707
Ensembl chr 1:64,571,804...64,643,707

G

cytotoxic T-lymphocyte-associated protein 4

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991

G

catenin delta 1

protein:decreased expression:lung

RGD

NCBI chr 2:84,417,440...84,489,321
Ensembl chr 2:84,430,415...84,481,109
Ensembl chr 2:84,430,415...84,481,109

G

cytochrome P450, family 20, subfamily a, polypeptide 1

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:60,382,459...60,427,219
Ensembl chr 1:60,382,482...60,427,219

G

dimethylarginine dimethylaminohydrolase 1

exacerbates

compared to wild type

RGD

NCBI chr 3:145,464,447...145,600,032
Ensembl chr 3:145,464,430...145,600,032

G

eukaryotic translation initiation factor 2 alpha kinase 4

ClinVar Annotator: match by term: Pulmonary arterial hypertension

PMID:25741868 PMID:28492532 PMID:32581362

NCBI chr 2:118,219,065...118,305,715
Ensembl chr 2:118,219,099...118,305,715

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 chr 2:32,536,607...32,572,681
Ensembl chr 2:32,536,607...32,572,681

G

family with sequence similarity 117, member B

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:59,952,165...60,024,507
Ensembl chr 1:59,952,165...60,024,505

G

fragile histidine triad gene

RGD

NCBI chr14:11,307,718...12,919,681
Ensembl chr14:11,307,738...12,919,681

G

flagellum associated containing coiled-coil domains 1

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:58,696,085...58,735,167
Ensembl chr 1:58,686,062...58,735,148

G

FTO alpha-ketoglutarate dependent dioxygenase

protein:decreased expression:lung

RGD

NCBI chr 8:92,039,995...92,395,061
Ensembl chr 8:92,040,153...92,395,067

G

frizzled class receptor 7

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:59,521,306...59,526,114
Ensembl chr 1:59,521,583...59,526,114

G

growth differentiation factor 2

ClinVar Annotator: match by term: Pulmonary arterial hypertension

PMID:25741868 PMID:26801773 PMID:28492532 PMID:31661308 PMID:31727138

NCBI chr14:33,662,996...33,669,155
Ensembl chr14:33,662,996...33,669,155

G

gap junction protein, beta 2

ClinVar Annotator: match by term: Pulmonary arterial hypertension

PMID:17666888 PMID:25741868 PMID:30755392

NCBI chr14:57,336,059...57,342,159
Ensembl chr14:57,336,057...57,342,159

G

glutathione peroxidase 3

associated with systemic scleroderma;protein:decreased expression:serum

RGD

NCBI chr11:54,793,680...54,801,213
Ensembl chr11:54,793,279...54,801,203

G

H19, imprinted maternally expressed transcript

ameliorates
treatment

RGD

PMID:30547791 PMID:30240970

RGD:155882573, RGD:156430315

NCBI chr 7:142,129,267...142,131,883
Ensembl chr 7:142,129,262...142,131,917

G

5-hydroxytryptamine (serotonin) receptor 1B

protein:increased expression:endothelium, smooth muscle, pulmonary artery

RGD

NCBI chr 9:81,510,344...81,515,885
Ensembl chr 9:81,510,344...81,515,881

G

hyccin PI4KA lipid kinase complex subunit 2

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:58,561,965...58,625,492
Ensembl chr 1:58,561,965...58,625,482

G

HYDIN, axonemal central pair apparatus protein

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 8:110,993,600...111,336,885
Ensembl chr 8:110,993,609...111,336,885

G

islet cell autoantigen 1-like

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:60,024,955...60,082,646
Ensembl chr 1:60,021,649...60,082,343

G

inducible T cell co-stimulator

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:60,999,909...61,039,481
Ensembl chr 1:61,017,086...61,039,479

G

interferon gamma

treatment

RGD

NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797

G

insulin-like growth factor I receptor

treatment

RGD

NCBI chr 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416

G

interleukin 2

treatment

RGD

NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108

G

inositol (myo)-1(or 4)-monophosphatase 1

RGD

NCBI chr 3:10,377,016...10,396,499
Ensembl chr 3:10,377,016...10,396,499

G

integrin alpha 5 (fibronectin receptor alpha)

mRNA:increased expression:lung

RGD

NCBI chr15:103,252,713...103,275,218
Ensembl chr15:103,252,713...103,275,190

G

potassium voltage-gated channel, shaker-related subfamily, member 5

ClinVar Annotator: match by term: Pulmonary arterial hypertension

PMID:23861362 PMID:25741868 PMID:28492532

NCBI chr 6:126,509,514...126,512,518
Ensembl chr 6:126,509,514...126,512,375

G

potassium channel, subfamily K, member 3

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 5:30,745,514...30,782,614
Ensembl chr 5:30,745,514...30,782,615

G

potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4

ameliorates

RGD

NCBI chr 7:24,069,750...24,084,635
Ensembl chr 7:24,069,688...24,086,115

G

potassium channel tetramerisation domain containing 18

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:57,994,260...58,009,298
Ensembl chr 1:57,994,260...58,058,115

G

mitogen-activated protein kinase kinase kinase 7

treatment

RGD

NCBI chr 4:31,963,659...32,023,470
Ensembl chr 4:31,964,097...32,023,467

G

microRNA 140

severity

miRNA:decreased expression:blood (human)

RGD

NCBI chr 8:108,277,876...108,277,945
Ensembl chr 8:108,277,876...108,277,945

G

microRNA 143

ameliorates

RNA:increased expression:pulmonary smooth muscle cell:

RGD

PMID:26311719 PMID:26311719

RGD:11537224, RGD:11537224

NCBI chr18:61,782,267...61,782,329
Ensembl chr18:61,782,267...61,782,329

G

microRNA 17

severity

miRNA:increased expression:blood

RGD

NCBI chr14:115,281,103...115,281,186
Ensembl chr14:115,281,103...115,281,186

G

microRNA 200a

treatment

RGD

NCBI chr 4:156,139,353...156,139,442
Ensembl chr 4:156,139,353...156,139,442

G

microRNA 221

ameliorates

RNA:increased expression:lung,pulmonary artery smooth muscle cell

RGD

PMID:28694128 PMID:28694128 PMID:28694128

RGD:151356920, RGD:151356920, RGD:151356920

NCBI chr X:19,012,533...19,012,627
Ensembl chr X:19,012,533...19,012,627

G

microRNA 675

treatment

RGD

NCBI chr 7:142,130,801...142,130,884
Ensembl chr 7:142,130,801...142,130,884

G

membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:59,160,094...59,202,548
Ensembl chr 1:59,160,094...59,202,548

G

neurobeachin like 1

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:60,217,910...60,377,487
Ensembl chr 1:60,219,758...60,377,487

G

NADH:ubiquinone oxidoreductase subunit B3

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:58,625,556...58,635,123
Ensembl chr 1:58,625,543...58,635,123

G

Ngg1 interacting factor 3-like 1 (S. pombe)

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:58,484,310...58,501,435
Ensembl chr 1:58,484,310...58,520,975

G

nicotinamide N-methyltransferase

protein:increased activity,altered activity:lung, liver (rat)

RGD

NCBI chr 9:48,448,905...48,518,958
Ensembl chr 9:48,503,177...48,516,453

G

NOP58 ribonucleoprotein

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:59,724,165...59,751,352
Ensembl chr 1:59,724,130...59,758,203

G

nitric oxide synthase 3, endothelial cell

treatment

RGD

NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472

G

notch 1

protein:decreased expression:endothelial cell, nucleus:
ClinVar Annotator: match by term: Pulmonary arterial hypertension

PMID:15472075 PMID:16614245 PMID:18593716 PMID:19245433 PMID:19635999 More...

NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675

G

notch 3

ClinVar Annotator: match by term: Pulmonary arterial hypertension

PMID:22006983 PMID:22153900 PMID:22159056 PMID:24086431 PMID:25741868 More...

NCBI chr17:32,339,794...32,385,869
Ensembl chr17:32,339,794...32,385,826

G

origin recognition complex, subunit 2

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:58,501,933...58,544,114
Ensembl chr 1:58,501,930...58,544,268

G

Parkinson disease (autosomal recessive, early onset) 7

exacerbates

RGD

NCBI chr 4:150,981,590...150,994,378
Ensembl chr 4:150,981,590...150,998,894

G

programmed cell death 4

treatment

RGD

NCBI chr19:53,880,662...53,926,024
Ensembl chr19:53,880,662...53,918,291

G

PHD finger protein 6

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr X:52,001,091...52,045,838
Ensembl chr X:52,001,143...52,045,820

G

PMS1 homolog2, mismatch repair system component

ClinVar Annotator: match by term: Pulmonary arterial hypertension

PMID:6144131 PMID:16144131 PMID:16283678 PMID:18602922 PMID:19283792 More...

NCBI chr 5:143,846,379...143,922,538
Ensembl chr 5:143,846,782...143,870,786
Ensembl chr 5:143,846,782...143,870,786

G

peptidylprolyl isomerase (cyclophilin)-like 3

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:58,470,152...58,484,878
Ensembl chr 1:58,470,153...58,484,645

G

prostaglandin I2 (prostacyclin) synthase

treatment
susceptibility

human gene in a rat model
DNA:repeat, SNPs:promoter, intron: , 185C>T, 325C>A ( , rs5582, rs116939356) (human)

RGD

PMID:17635855 PMID:23841984 PMID:24605778 PMID:11034952 PMID:18612919

RGD:401901195, RGD:401959742, RGD:401959406, RGD:401959335, RGD:401901264

NCBI chr 2:167,045,114...167,095,069
Ensembl chr 2:167,033,725...167,082,524

G

protein tyrosine phosphatase receptor type D

mRNA:decreased expression:blood, pulmonary artery (human)

RGD

NCBI chr 4:75,859,474...78,132,282
Ensembl chr 4:75,859,475...78,130,198

G

Ras association (RalGDS/AF-6) and pleckstrin homology domains 1

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:60,509,997...60,606,233
Ensembl chr 1:60,521,451...60,606,263

G

selenoprotein P

associated with systemic scleroderma;protein:decreased expression:serum

RGD

NCBI chr15:3,300,249...3,309,992
Ensembl chr15:3,298,029...3,309,990

G

shugoshin 2A

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:58,024,499...58,065,436
Ensembl chr 1:58,035,130...58,065,058

G

SMAD family member 4

ClinVar Annotator: match by term: Pulmonary arterial hypertension

PMID:25559809 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29684080

NCBI chr18:73,767,861...73,836,862
Ensembl chr18:73,772,080...73,836,851

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 3:54,662,873...54,709,162
Ensembl chr 3:54,663,003...54,708,678

G

superoxide dismutase 2, mitochondrial

protein:decreased expression:pulmonary artery
protein:decreased expression:small pulmonary artery

RGD

PMID:20529999 PMID:20529999

RGD:27095884, RGD:27095884

NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950

G

superoxide dismutase 3, extracellular

exacerbates

RGD

NCBI chr 5:52,521,146...52,527,080
Ensembl chr 5:52,521,133...52,528,760

G

SRY (sex determining region Y)-box 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)
DNA:nonsense mutation:CDS:p.Q127* (human)
protein:decreased expression:lung endothelium (human)
associated with congenital heart disease;DNA:mutations:multiple (human)

PMID:30527955 PMID:29650961 PMID:33952808 PMID:36913491 PMID:30029678

RGD:329955464, RGD:329853735, RGD:329853326, RGD:329853317, RGD:329853313

NCBI chr 1:4,561,154...4,567,624
Ensembl chr 1:4,561,154...4,567,577

G

spermatogenesis associated, serine-rich 2-like

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:57,813,261...57,987,557
Ensembl chr 1:57,813,321...57,987,553

G

STE20-related kinase adaptor beta

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:59,012,681...59,034,281
Ensembl chr 1:59,012,681...59,034,874

G

small ubiquitin-like modifier 1

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:59,678,593...59,709,993
Ensembl chr 1:59,625,717...59,709,993

G

T-box 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 chr11:85,777,193...85,806,923
Ensembl chr11:85,777,248...85,806,923

G

transforming growth factor, beta receptor I

mRNA:increased expression:lung

RGD

NCBI chr 4:47,353,258...47,414,926
Ensembl chr 4:47,353,222...47,414,931

G

transmembrane protein 237

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:59,139,743...59,159,567
Ensembl chr 1:59,139,749...59,159,567

G

topoisomerase (DNA) II binding protein 1

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 9:103,182,351...103,227,627
Ensembl chr 9:103,182,414...103,227,627

G

trafficking protein, kinesin binding 2

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:58,939,608...59,013,509
Ensembl chr 1:58,939,608...59,012,589

G

transient receptor potential cation channel, subfamily C, member 4

ameliorates

RGD

NCBI chr 3:54,063,441...54,225,892
Ensembl chr 3:54,063,456...54,225,892

G

twist basic helix-loop-helix transcription factor 1

mRNA, protein:increased expression: pulmonary artery,lung:

RGD

NCBI chr12:34,007,670...34,009,830
Ensembl chr12:34,007,670...34,009,828

G

vimentin

protein:increased phosphorylation:lung

RGD

NCBI chr 2:13,579,122...13,587,637
Ensembl chr 2:13,578,738...13,587,637

G

WD repeat domain 12

ClinVar Annotator: match by term: Pulmonary arterial hypertension

NCBI chr 1:60,110,520...60,137,659
Ensembl chr 1:60,108,944...60,137,804

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, type II-like 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 chr15:101,026,403...101,043,217
Ensembl chr15:101,026,403...101,043,217

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 chr 2:32,536,607...32,572,681
Ensembl chr 2:32,536,607...32,572,681

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)

RGD

NCBI chr16:16,130,092...16,176,863
Ensembl chr16:16,130,094...16,176,823

G

fission, mitochondrial 1

mRNA:increased expression:lung (rat)

RGD

NCBI chr 5:136,982,129...136,995,088
Ensembl chr 5:136,982,129...136,995,088

G

guanylate cyclase 1, soluble, alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:81,999,734...82,053,253
Ensembl chr 3:81,999,734...82,053,096

G

heme oxygenase 1

protein:increased expression:lung

RGD

NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217

G

mitofusin 2

mRNA:decreased expression:lung (rat)

RGD

NCBI chr 4:147,958,043...147,989,527
Ensembl chr 4:147,958,056...147,989,161

pulmonary hypertension

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP-binding cassette, sub-family A member 3

CTD Direct Evidence: marker/mechanism

NCBI chr17:24,570,997...24,629,178
Ensembl chr17:24,570,924...24,629,175

G

angiotensin I converting enzyme

CTD Direct Evidence: marker/mechanism

NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790

G

angiotensin converting enzyme 2

treatment

CTD Direct Evidence: therapeutic
human protein in a rat model

CTD
RGD

PMID:31931441 PMID:25225206

NCBI chr X:162,922,338...162,971,414
Ensembl chr X:162,922,328...162,971,416

G

activin A receptor, type II-like 1

disease_progression
susceptibility

mRNA:increased expression:lung
DNA:mutations (human)
associated with hereditary haemorrhagic telangiectasia;DNA:missense mutations
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:26540443 PMID:17392319 PMID:20056902 PMID:14684682

RGD:1601116, RGD:5128837, RGD:1601117

NCBI chr15:101,026,403...101,043,217
Ensembl chr15:101,026,403...101,043,217

G

alcohol dehydrogenase 5 (class III), chi polypeptide

RGD

NCBI chr 3:138,142,961...138,161,260
Ensembl chr 3:138,148,854...138,161,260

G

adiponectin, C1Q and collagen domain containing

RGD

NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778

G

adrenomedullin

RGD

NCBI chr 7:110,226,864...110,229,027
Ensembl chr 7:110,226,868...110,229,027

G

advanced glycosylation end product-specific receptor

protein:increased expression:lung (human)

RGD

NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910

G

angiotensinogen

RGD

NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445

G

angiotensin II receptor, type 1a

onset

DNA:polymorphism:3' utr:1166A>C (human)

RGD

NCBI chr13:30,520,339...30,566,850
Ensembl chr13:30,520,424...30,566,850

G

aryl-hydrocarbon receptor

ameliorates

6-formylindolo[3,2-b]carbazole (FICZ)|semaxanib (CHEBI:91083)
compared to wild type littermates

RGD

PMID:33836606 PMID:33836606

RGD:401940192, RGD:401940192

NCBI chr12:35,547,978...35,584,988
Ensembl chr12:35,547,973...35,585,037

G

aminolevulinic acid synthase 1

mRNA:increased expression:lung (rat)

RGD

NCBI chr 9:106,110,654...106,125,153
Ensembl chr 9:106,110,654...106,125,853

G

arachidonate 5-lipoxygenase

treatment

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

CTD
RGD

PMID:14726295 PMID:9445303 PMID:31462075 PMID:31462075 PMID:8647941 More...

RGD:1626154, RGD:14975304, RGD:14975304, RGD:734558, RGD:4890418

NCBI chr 6:116,387,030...116,438,139
Ensembl chr 6:116,387,038...116,438,139

G

arachidonate 5-lipoxygenase activating protein

protein:increased expression:artery

RGD

PMID:9445303 PMID:8647941

RGD:1626154, RGD:734558

NCBI chr 5:149,201,814...149,224,963
Ensembl chr 5:149,201,577...149,224,963

G

angiopoietin 1

protein:decreased expression:pulmonary artery

RGD

NCBI chr15:42,288,063...42,540,373
Ensembl chr15:42,288,119...42,540,373

G

angiopoietin 2

protein:increased expression:pulmonary artery (rat)

RGD

NCBI chr 8:18,740,279...18,791,578
Ensembl chr 8:18,740,279...18,791,578

G

apelin

protein:decreased expression:plasma

RGD

NCBI chr X:47,114,023...47,123,730
Ensembl chr X:47,114,023...47,123,730

G

arginase type II

CTD Direct Evidence: marker/mechanism

NCBI chr12:79,177,562...79,203,075
Ensembl chr12:79,177,551...79,203,075

G

ATPase, Ca++ transporting, cardiac muscle, slow twitch 2

treatment

RGD

PMID:27144451 PMID:23804254

RGD:13782086, RGD:13782089

NCBI chr 5:122,591,576...122,640,288
Ensembl chr 5:122,591,576...122,640,288

G

ATP synthase F1 subunit alpha

treatment

chronic thromboembolic pulmonary hypertension

RGD

NCBI chr18:77,861,468...77,870,569
Ensembl chr18:77,861,429...77,870,569

G

ATP synthase peripheral stalk subunit F6

treatment

mRNA, protein:increased expression:lung, plasma (rat)

RGD

PMID:27916219 PMID:27491388

RGD:13800892, RGD:13800894

NCBI chr16:84,624,754...84,632,495
Ensembl chr16:84,624,754...84,632,513

G

ATPase, Cu++ transporting, alpha polypeptide

CTD Direct Evidence: marker/mechanism

NCBI chr X:105,070,830...105,171,766
Ensembl chr X:105,070,882...105,168,532

G

B cell leukemia/lymphoma 2

protein:decreased expression:heart right ventricle

RGD

NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004

G

BCL2-like 1

treatment

RGD

NCBI chr 2:152,600,652...152,673,632
Ensembl chr 2:152,622,588...152,673,648

G

bradykinin receptor, beta 2

RGD

NCBI chr12:105,529,431...105,561,503
Ensembl chr12:105,529,485...105,561,496

G

baculoviral IAP repeat-containing 5

protein:increased expression:pulmonary artery

RGD

PMID:15931388 PMID:15931388

RGD:2293135, RGD:2293135

NCBI chr11:117,740,063...117,746,569
Ensembl chr11:117,740,077...117,746,569

G

bone morphogenetic protein receptor, type 1A

RGD

NCBI chr14:34,133,018...34,225,335
Ensembl chr14:34,132,691...34,225,298

G

bone morphogenetic protein receptor, type 1B

RGD

NCBI chr 3:141,540,230...141,875,335
Ensembl chr 3:141,542,897...141,875,186

G

bone morphogenetic protein receptor type 2

treatment
disease_progression

DNA:mutations: :multiple (human)
induced by human ad-ALOX5
protein:decreased expression:lung
CTD Direct Evidence: marker/mechanism
DNA:missense mutations (human)

CTD
RGD

PMID:11590841 PMID:11893684 PMID:12358323 PMID:16297860 PMID:20496075 More...

RGD:5129237, RGD:14975304, RGD:38500243, RGD:38500244, RGD:5129474, RGD:1580076, RGD:5129239, RGD:5129472, RGD:5129238

NCBI chr 1:59,802,721...59,917,240
Ensembl chr 1:59,802,559...59,918,173

G

bromodomain containing 4

CTD Direct Evidence: therapeutic

NCBI chr17:32,415,246...32,503,717
Ensembl chr17:32,415,248...32,503,696

G

calcitonin/calcitonin-related polypeptide, alpha

CTD Direct Evidence: therapeutic

NCBI chr 7:114,225,223...114,236,145
Ensembl chr 7:114,230,713...114,235,592

G

carbonic anhydrase 9

CTD Direct Evidence: marker/mechanism

NCBI chr 4:43,507,026...43,513,729
Ensembl chr 4:43,506,966...43,513,729

G

calcium-sensing receptor

protein:increased expression:pulmonary artery (rat)

RGD

NCBI chr16:36,310,947...36,382,605
Ensembl chr16:36,314,058...36,382,503

G

caveolin 1, caveolae protein

treatment

idiopathic pulmonary arterial hypertension (IPAH)

RGD

PMID:17470567 PMID:23538027 PMID:15353500

RGD:1625360, RGD:8662276, RGD:1581153

NCBI chr 6:17,306,387...17,341,323
Ensembl chr 6:17,306,334...17,341,451

G

caveolae associated 1

OMIM:615371

NCBI chr11:100,847,562...100,861,443
Ensembl chr11:100,847,559...100,861,713

G

cerebellin 2 precursor protein

CTD Direct Evidence: marker/mechanism

NCBI chr18:86,727,226...86,736,410
Ensembl chr18:86,729,235...86,736,408

G

C-C motif chemokine ligand 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:82,067,492...82,070,638
Ensembl chr11:82,067,483...82,196,516

G

C-C motif chemokine ligand 2

protein:increased expression:lung, plasma
CTD Direct Evidence: marker/mechanism
protein:increased expression:bronchoalveolar lavage fluid (rat)

CTD
RGD

PMID:15302794 PMID:30418988 PMID:19087668 PMID:9605182

RGD:2307003, RGD:8549547

NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279

G

C-C motif chemokine ligand 5

protein:increased secretion:serum (human)

RGD

NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344

G

cellular communication network factor 2

protein:increased expression:pulmonary artery (rat)

RGD

NCBI chr10:24,471,340...24,474,581
Ensembl chr10:24,471,340...24,474,581

G

CD209a antigen

RGD

NCBI chr 8:3,793,395...3,798,984
Ensembl chr 8:3,793,397...3,798,984

G

CD28 antigen

RGD

NCBI chr 1:60,785,547...60,812,521
Ensembl chr 1:60,755,959...60,812,518

G

CD40 antigen

treatment

RGD

NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868

G

CD40 ligand

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

CTD
RGD

PMID:15302794 PMID:25998782

NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402

G

CD86 antigen

protein:decreased expression:blood, myeloid dendritic cell (human)

RGD

NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443

G

cadherin 5

protein:decreased expression:lung

RGD

NCBI chr 8:104,828,247...104,871,136
Ensembl chr 8:104,828,257...104,871,143

G

cyclin dependent kinase inhibitor 1A

treatment

RGD

PMID:24334871 PMID:24412385 PMID:24334871

RGD:10043360, RGD:10043361, RGD:10043360

NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701

G

cyclin dependent kinase inhibitor 1B

treatment

RGD

NCBI chr 6:134,897,364...134,902,488
Ensembl chr 6:134,897,364...134,902,476

G

clusterin

RGD

NCBI chr14:66,206,093...66,218,992
Ensembl chr14:66,205,932...66,218,996

G

collagen, type I, alpha 1

treatment

RGD

NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868

G

collagen, type IV, alpha 1

treatment

RGD

NCBI chr 8:11,248,423...11,362,889
Ensembl chr 8:11,248,423...11,362,826

G

C-reactive protein, pentraxin-related

associated with Pulmonary Disease, Chronic Obstructive

RGD

NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598

G

colony stimulating factor 3 (granulocyte)

treatment

RGD

PMID:17186992 PMID:12524378

RGD:11039432, RGD:11039539

NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455

G

catenin delta 1

treatment

RGD

NCBI chr 2:84,417,440...84,489,321
Ensembl chr 2:84,430,415...84,481,109
Ensembl chr 2:84,430,415...84,481,109

G

C-X3-C motif chemokine ligand 1

mRNA, protein:increased expression:lung
associated with Heart Defects, Congenital

RGD

PMID:18630689 PMID:20869263 PMID:19948918

RGD:4891889, RGD:4891883, RGD:4891887

NCBI chr 8:95,498,808...95,509,055
Ensembl chr 8:95,498,637...95,509,055

G

C-X3-C motif chemokine receptor 1

mRNA, protein:increased expression:lung
associated with Scleroderma, Systemic;DNA:polymorphisms: :p.V249I, p.T280M (human)

RGD

PMID:17182651 PMID:16584113

RGD:4891893, RGD:4891896

NCBI chr 9:119,877,749...119,897,362
Ensembl chr 9:119,877,749...119,898,945

G

C-X-C motif chemokine ligand 15

CTD Direct Evidence: marker/mechanism

NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926

G

C-X-C motif chemokine receptor 4

treatment

RGD

NCBI chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030

G

cytochrome b-245, alpha polypeptide

associated with Anoxia;mRNA, protein:increased expression:lung

RGD

PMID:18424632 PMID:18952568

RGD:4773907, RGD:4762683

NCBI chr 8:123,151,510...123,159,679
Ensembl chr 8:123,151,515...123,159,669

G

cytochrome b-245, beta polypeptide

treatment

associated with Anoxia

RGD

PMID:18952568 PMID:18424632

RGD:4762683, RGD:4773907

NCBI chr X:9,301,493...9,354,005
Ensembl chr X:9,301,491...9,354,010

G

cytochrome P450, family 1, subfamily a, polypeptide 1

mRNA,protein:increased expression:lung

RGD

NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107

G

cytochrome P450, family 2, subfamily j, polypeptide 6

RGD

NCBI chr 4:96,404,375...96,449,835
Ensembl chr 4:96,404,375...96,441,898

G

cytochrome P450, family 2, subfamily j, polypeptide 9

NCBI chr 4:96,456,661...96,480,748
Ensembl chr 4:96,456,666...96,479,815

G

cysteinyl leukotriene receptor 1

associated with Anoxia

RGD

NCBI chr X:105,617,952...105,647,329
Ensembl chr X:105,617,952...105,647,285

G

delta like canonical Notch ligand 4

RGD

NCBI chr 2:119,156,286...119,166,145
Ensembl chr 2:119,156,265...119,166,443

G

endothelin converting enzyme 1

associated with Anoxia;

RGD

NCBI chr 4:137,589,548...137,692,540
Ensembl chr 4:137,589,548...137,692,540

G

endothelin 1

associated with Pulmonary Disease, Chronic Obstructive; protein:increased secretion:plasma (human)
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:lung (rat)
Hypertension, Portopulmonary; protein:increased secretion:plasma (human)
Hypertension, Heritable Pulmonary Artery; mRNA:increased expression:bone marrow, macrophage (mouse)

CTD
RGD

PMID:7549228 PMID:9918753 PMID:12391278 PMID:20929026 PMID:20967148 More...

RGD:4144865, RGD:4144128, RGD:4144882, RGD:4144877

NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466

G

endothelin 2

RGD

NCBI chr 4:120,018,403...120,024,557
Ensembl chr 4:120,018,403...120,024,557

G

endothelin receptor type A

RGD

PMID:20531217 PMID:15243299 PMID:20562228 PMID:18506008

RGD:4892283, RGD:1580949, RGD:4144877, RGD:4892320

NCBI chr 8:78,389,658...78,451,081
Ensembl chr 8:78,389,660...78,451,093

G

endothelin receptor type B

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:15927975 PMID:20562228 PMID:15243299 PMID:18091567

RGD:4144877, RGD:1580949, RGD:4892289

NCBI chr14:104,052,055...104,081,764
Ensembl chr14:104,052,061...104,081,838

G

epidermal growth factor receptor

protein:increased expression:lung, arteriole (human)

RGD

PMID:12896876 PMID:21492463

RGD:5131639, RGD:5131626

NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158

G

early growth response 1

mRNA, protein:increased expression:lung (mouse)
protein:increased expression:lung (human)
mRNA, protein:increased expression:lung (rat)

RGD

PMID:18599502 PMID:21924231 PMID:20889906 PMID:20889906 PMID:20023177

RGD:5131890, RGD:10395308, RGD:5131875, RGD:5131875, RGD:5131883

NCBI chr18:34,994,260...34,998,009
Ensembl chr18:34,992,876...34,998,037

G

eukaryotic translation initiation factor 2 alpha kinase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 2:118,219,065...118,305,715
Ensembl chr 2:118,219,099...118,305,715

G

endoglin

RGD

NCBI chr 2:32,536,607...32,572,681
Ensembl chr 2:32,536,607...32,572,681

G

endothelial PAS domain protein 1

DNA:missense mutation:cds: 2097G>A,p.G537R(human)

RGD

PMID:16215633 PMID:18650473

RGD:10395375, RGD:11041573

NCBI chr17:87,061,292...87,140,838
Ensembl chr17:87,061,128...87,140,838

G

epoxide hydrolase 2, cytoplasmic

RGD

NCBI chr14:66,321,821...66,361,971
Ensembl chr14:66,321,823...66,361,949

G

erythropoietin

treatment

RGD

NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504

G

estrogen receptor 1 (alpha)

RGD

NCBI chr10:4,561,989...4,955,633
Ensembl chr10:4,561,593...4,955,614

G

estrogen receptor 2 (beta)

RGD

NCBI chr12:76,167,193...76,224,033
Ensembl chr12:76,167,193...76,224,033

G

coagulation factor V

Chronic thromboembolic pulmonary hypertension (CTEPH)

RGD

NCBI chr 1:163,979,396...164,048,539
Ensembl chr 1:163,979,407...164,047,846

G

fibulin 5

CTD Direct Evidence: marker/mechanism

NCBI chr12:101,712,820...101,785,541
Ensembl chr12:101,712,824...101,785,314

G

fibroblast growth factor 2

mRNA:increased expression:lung

RGD

PMID:19197140 PMID:19197140

RGD:2315911, RGD:2315911

NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257

G

fibroblast growth factor receptor 1

RGD

NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734

G

forkhead box O1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:52,175,758...52,257,530
Ensembl chr 3:52,175,757...52,260,642

G

GATA binding protein 4

protein:increased expression:heart right ventricle

RGD

NCBI chr14:63,436,363...63,509,161
Ensembl chr14:63,436,371...63,509,141

G

GATA binding protein 6

mRNA, protein:decreased expression:lung
protein:decreased expression:lung, arteriole, venule (human)

RGD

PMID:19842842 PMID:23583651 PMID:23583651

RGD:2314194, RGD:13208869, RGD:13208869

NCBI chr18:11,052,510...11,085,636
Ensembl chr18:11,052,064...11,085,635

G

glucosylceramidase beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:89,110,235...89,119,944
Ensembl chr 3:89,110,235...89,116,273

G

growth differentiation factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:33,662,996...33,669,155
Ensembl chr14:33,662,996...33,669,155

G

gap junction protein, alpha 1

treatment

mRNA:increased expression:pulmonary artery

RGD

PMID:21414209 PMID:23321332

RGD:7207411, RGD:8662411

NCBI chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609

G

G protein-coupled receptor 182

mRNA:increased expression:lung

RGD

NCBI chr10:127,585,471...127,587,667
Ensembl chr10:127,583,145...127,587,601

G

hyaluronan synthase 1

RGD

NCBI chr17:18,063,588...18,075,450
Ensembl chr17:18,063,585...18,075,467

G

hyaluronan synthase 2

mRNA:increased expression:lung

RGD

NCBI chr15:56,529,023...56,557,942
Ensembl chr15:56,529,023...56,557,935

G

hyaluronan synthase 3

mRNA:decreased expression:lung

RGD

NCBI chr 8:107,596,874...107,609,534
Ensembl chr 8:107,596,874...107,611,198

G

histone deacetylase 1

protein:increased expression:lung:

RGD

PMID:22711276 PMID:22711276

RGD:9590133, RGD:9590133

NCBI chr 4:129,409,897...129,436,516
Ensembl chr 4:129,409,897...129,436,506

G

histone deacetylase 2

protein:decreased expression:lung:

RGD

NCBI chr10:36,850,293...36,877,885
Ensembl chr10:36,850,540...36,877,885

G

histone deacetylase 3

protein:decreased expression:lung:

RGD

NCBI chr18:38,070,024...38,088,073
Ensembl chr18:38,068,897...38,088,069

G

histone deacetylase 4

protein:increased expression:lung:

RGD

NCBI chr 1:91,856,501...92,123,424
Ensembl chr 1:91,856,501...92,123,421

G

histone deacetylase 5

protein:increased expression:lung:

RGD

PMID:22711276 PMID:22711276

RGD:9590133, RGD:9590133

NCBI chr11:102,085,244...102,120,968
Ensembl chr11:102,085,258...102,120,992

G

hairy/enhancer-of-split related with YRPW motif 1

mRNA:decreased expression:lung:

RGD

NCBI chr 3:8,728,419...8,732,098
Ensembl chr 3:8,728,419...8,732,316

G

hypoxia inducible factor 1, alpha subunit

associated with Anoxia;protein:increased expression:pulmonary artery
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:20110409 PMID:17213961 PMID:16215633

RGD:1601553, RGD:10395375

NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304

G

hypoxia inducible factor 3, alpha subunit

RGD

NCBI chr 7:16,764,918...16,796,352
Ensembl chr 7:16,765,432...16,796,352

G

hexokinase 1

mRNA:increased expression:lung

RGD

NCBI chr10:62,104,634...62,215,699
Ensembl chr10:62,104,634...62,215,687

G

high mobility group box 1

treatment

RGD

NCBI chr 5:148,983,512...148,989,867
Ensembl chr 5:148,983,512...149,121,299

G

3-hydroxy-3-methylglutaryl-Coenzyme A reductase

RGD

NCBI chr13:96,785,470...96,807,444
Ensembl chr13:96,785,475...96,807,444

G

heme oxygenase 1

RGD

PMID:14970910 PMID:20957739 PMID:20957739 PMID:19409105

RGD:1582715, RGD:4145325, RGD:4145325, RGD:4145307

NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217

G

haptoglobin

treatment

protein:decreased expression:serum

RGD

PMID:2043024 PMID:25656991 PMID:19023114 PMID:19703762

RGD:1626353, RGD:11041794, RGD:5147440, RGD:5147420

NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804

G

hydroxyprostaglandin dehydrogenase 15 (NAD)

mRNA, protein:increased expression:lung

RGD

NCBI chr 8:56,747,587...56,774,081
Ensembl chr 8:56,747,620...56,774,078

G

5-hydroxytryptamine (serotonin) receptor 1B

ameliorates

RGD

NCBI chr 9:81,510,344...81,515,885
Ensembl chr 9:81,510,344...81,515,881

G

5-hydroxytryptamine (serotonin) receptor 2B

CTD Direct Evidence: marker/mechanism

NCBI chr 1:86,025,268...86,043,960
Ensembl chr 1:86,026,748...86,039,692

G

hyaluronoglucosaminidase 1

mRNA:decreased expression:lung

RGD

NCBI chr 9:107,454,149...107,458,898
Ensembl chr 9:107,454,126...107,458,909

G

hyaluronoglucosaminidase 2

mRNA:decreased expression:lung

RGD

NCBI chr 9:107,445,096...107,449,975
Ensembl chr 9:107,445,144...107,449,978

G

intercellular adhesion molecule 1

associated with Heart Defects, Congenital; protein:increased secretion:serum (human)

RGD

NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113

G

inhibitor of DNA binding 1, HLH protein

RGD

NCBI chr 2:152,578,171...152,579,330
Ensembl chr 2:152,578,171...152,579,330

G

interferon gamma receptor 1

mRNA: increased expression

RGD

NCBI chr10:19,467,697...19,485,977
Ensembl chr10:19,467,697...19,485,977

G

interleukin 10

disease_progression

protein:increased expression:serum

RGD

NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711

G

interleukin 13

associated with sclerosis; protein:increased expression:plasma (human)
associated with Scleroderma, Limited;protein:increased expression:plasma

RGD

PMID:19799786 PMID:21425123

RGD:4145600, RGD:8549528

NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529

G

interleukin 13 receptor, alpha 1

RGD

PMID:20671265 PMID:20808962

RGD:4892611, RGD:4892610

NCBI chr X:35,375,761...35,434,915
Ensembl chr X:35,375,763...35,434,912

G

interleukin 13 receptor, alpha 2

mRNA:increased expression:lung

RGD

NCBI chr X:146,166,474...146,214,982
Ensembl chr X:146,166,472...146,212,188

G

interleukin 18

RGD

NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140

G

interleukin 1 beta

associated with Scleroderma, Limited;protein:increased expression:serum

RGD

PMID:20808962 PMID:20713898

RGD:4892610, RGD:4142530

NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059

G

interleukin 1 receptor antagonist

RGD

NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506

G

interleukin 23 receptor

associated with Scleroderma, Systemic;DNA:SNPs: :rs11209026, rs11465804 (human)

RGD

NCBI chr 6:67,399,906...67,468,838
Ensembl chr 6:67,399,916...67,468,839

G

interleukin 4

RGD

NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496

G

interleukin 6

disease_progression

RGD

PMID:20713898 PMID:20693255

RGD:4142530, RGD:4143246

NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979

G

potassium voltage-gated channel, shaker-related subfamily, member 5

DNA:SNPs:promoter, cds
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:27522126 PMID:17267549 PMID:20303989 PMID:17596340

RGD:1627654, RGD:7242752, RGD:1627651

NCBI chr 6:126,509,514...126,512,518
Ensembl chr 6:126,509,514...126,512,375

G

potassium channel, subfamily K, member 3

severity

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:30365877 PMID:31347976

NCBI chr 5:30,745,514...30,782,614
Ensembl chr 5:30,745,514...30,782,615

G

potassium large conductance calcium-activated channel, subfamily M, alpha member 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:23,342,356...24,055,173
Ensembl chr14:23,339,499...24,064,559

G

lysine demethylase 5B

associated with Hypoxia;protein:increased expression:pulmonary artery,smooth muscle tissue (mouse)

RGD

NCBI chr 1:134,487,916...134,560,621
Ensembl chr 1:134,487,909...134,563,023

G

lipocalin 2

mRNA,protein:increased expression:lung
associated with congenital heart disease; protein:increased expression:plasma

RGD

PMID:25076856 PMID:25076856

RGD:126781744, RGD:126781744

NCBI chr 2:32,274,649...32,277,751
Ensembl chr 2:32,274,645...32,278,264

G

leptin receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 4:101,574,393...101,676,375
Ensembl chr 4:101,574,601...101,672,549

G

lysyl oxidase

CTD Direct Evidence: marker/mechanism

NCBI chr18:52,649,132...52,662,939
Ensembl chr18:52,649,139...52,662,939

G

mitogen-activated protein kinase 1

treatment

RGD

NCBI chr16:16,801,246...16,865,317
Ensembl chr16:16,801,246...16,865,317

G

mitogen-activated protein kinase 3

treatment

RGD

NCBI chr 7:126,358,798...126,364,988
Ensembl chr 7:126,358,773...126,364,991

G

mitofusin 1

protein:decreased expression:heart right ventricle (rat)

RGD

NCBI chr 3:32,583,594...32,633,384
Ensembl chr 3:32,583,614...32,633,388

G

macrophage migration inhibitory factor (glycosylation-inhibiting factor)

associated with sclerodema, systemic; protein:increased expression:serum

RGD

NCBI chr10:75,695,187...75,696,111
Ensembl chr10:75,695,187...75,696,074

G

microRNA 125a

treatment

RGD

NCBI chr17:18,051,074...18,051,141
Ensembl chr17:18,051,074...18,051,141

G

microRNA 145a

mRNA:decreased expression:pulmonary artery (rat)

RGD

NCBI chr18:61,780,896...61,780,965
Ensembl chr18:61,780,896...61,780,965

G

microRNA 204

CTD Direct Evidence: marker/mechanism

NCBI chr19:22,727,969...22,728,036
Ensembl chr19:22,727,969...22,728,036

G

microRNA 21a

RNA:increased expression:lung

RGD

NCBI chr11:86,474,893...86,474,984
Ensembl chr11:86,474,893...86,474,984

G

microRNA 223

treatment

Chronic Intermittent Hypoxia
RNA:decreased expression:lung, pulmonary aorta, pulmonary aorta smooth muscle

RGD

PMID:30246291 PMID:30507047 PMID:26084306 PMID:26084306

RGD:25823198, RGD:25824849, RGD:25824847, RGD:25824847

NCBI chr X:95,286,423...95,286,532
Ensembl chr X:95,286,423...95,286,532

G

matrix metallopeptidase 1a (interstitial collagenase)

RGD

NCBI chr 9:7,464,141...7,476,870
Ensembl chr 9:7,464,141...7,476,857

G

matrix metallopeptidase 1b (interstitial collagenase)

NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047

G

matrix metallopeptidase 9

severity

associated with Heart Failure, Congestive;protein:decreased expression:monocyte
associated with Pulmonary Embolism;protein:increased expression:lung, plasma

RGD

PMID:21063214 PMID:23087098 PMID:16867026 PMID:17133179 PMID:18355767

RGD:5129210, RGD:7207217, RGD:1642028, RGD:1642053, RGD:5130155

NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770

G

mechanistic target of rapamycin kinase

RGD

NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140

G

myelocytomatosis oncogene

treatment

RGD

NCBI chr15:61,857,190...61,862,210
Ensembl chr15:61,857,240...61,862,223

G

nicotinamide phosphoribosyltransferase

susceptibility

mRNA,protein:increased expression:lung,pulmonary arterial endothelial cell:
protein:increased expression:lung:

RGD

PMID:28202489 PMID:28202489 PMID:28202489

RGD:13781882, RGD:13781882, RGD:13781882

NCBI chr12:32,870,334...32,903,368
Ensembl chr12:32,869,544...32,903,348

G

nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 2

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:27522126 PMID:17596340

NCBI chr 2:168,318,330...168,443,900
Ensembl chr 2:168,318,330...168,443,577

G

nitric oxide synthase 2, inducible

onset

associated with Anoxia; mouse gene in rat model
associated with Anoxia; protein:increased expression:pulmonary artery
associated with Congenital diaphragmatic hernia; protein:decreased expression:pulmonary artery, endothelium
associated with heart disease; protein:increased expression:endothelial cell
associated with Scleroderma, Systemic; DNA:repeats, SNPs:promoter:(CCTTT), c.-1026C>T, c.-277A>G (human)

RGD

PMID:11104748 PMID:16113050 PMID:16456243 PMID:19912632 PMID:16813666

RGD:4891468, RGD:1580936, RGD:1580940, RGD:5132602, RGD:4891462

NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080

G

nitric oxide synthase 3, endothelial cell

treatment
susceptibility

DNA:polymorphism:cds:p.E298D (human)
CTD Direct Evidence: marker/mechanism
associated with Beta-Thalassemia;DNA:repeats:intron:
mRNA, protein:increased expression:pulmonary endothelial cell
associated with heart disease; protein:increased expression:endothelial cell
RNA:increased expression:lung
protein:increased expression:arteriole
associated with chronic obstructive pulmonary disease; DNA:polymorphism:cds:p.G894T (human)

CTD
RGD

PMID:21144100 PMID:21144100 PMID:29151278 PMID:25699607 PMID:20724942 More...

RGD:4892009, RGD:13504742, RGD:11533642, RGD:4892004, RGD:5132602, RGD:5132631, RGD:4892010, RGD:4892043, RGD:4892039, RGD:4892038, RGD:4892042

NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472

G

notch 1

ameliorates

RGD

NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675

G

NADPH oxidase 1

treatment
ameliorates

mRNA,protein:increased expression:lung

RGD

PMID:24233492 PMID:23706097 PMID:27401289 PMID:24233492

RGD:329955359, RGD:329955579, RGD:329955361, RGD:329955359

NCBI chr X:132,987,170...133,038,455
Ensembl chr X:132,987,170...133,122,705

G

NADPH oxidase 4

associated with Anoxia;mRNA, protein:increased expression:lung

RGD

NCBI chr 7:86,893,638...87,047,918
Ensembl chr 7:86,895,304...87,047,918

G

natriuretic peptide type A

RGD

NCBI chr 4:148,085,179...148,086,531
Ensembl chr 4:148,085,179...148,086,536

G

natriuretic peptide type B

severity

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

CTD
RGD

PMID:20408845 PMID:21351102 PMID:16893710 PMID:16936438

RGD:1642205, RGD:1642203

NCBI chr 4:148,070,264...148,071,662
Ensembl chr 4:148,070,245...148,071,662

G

phosphodiesterase 3A, cGMP inhibited

mRNA:increased expression:pulmonary artery

RGD

NCBI chr 6:141,194,995...141,452,588
Ensembl chr 6:141,194,995...141,453,174

G

phosphodiesterase 5A, cGMP-specific

RGD

NCBI chr 3:122,522,822...122,653,023
Ensembl chr 3:122,522,596...122,653,023

G

platelet derived growth factor, alpha

RGD

NCBI chr 5:138,961,761...138,986,336
Ensembl chr 5:138,961,769...138,983,125

G

platelet derived growth factor, B polypeptide

RGD

PMID:8447423 PMID:21819559 PMID:22523431

RGD:1580847, RGD:6482859, RGD:6482831

NCBI chr15:79,880,066...79,899,178
Ensembl chr15:79,880,075...79,899,178

G

protein disulfide isomerase associated 3

protein:increased expression:lung:

RGD

NCBI chr 2:121,244,383...121,269,168
Ensembl chr 2:121,244,256...121,269,168

G

platelet/endothelial cell adhesion molecule 1

treatment

RGD

NCBI chr11:106,545,039...106,606,107
Ensembl chr11:106,545,043...106,641,454

G

placental growth factor

associated with Anemia, Sickle Cell;protein:increased expression:plasma
associated with Heart Defects, Congenital

RGD

PMID:20040765 PMID:20195855

RGD:6483588, RGD:6483610

NCBI chr12:85,213,413...85,224,087
Ensembl chr12:85,213,409...85,224,564

G

protein kinase, cGMP-dependent, type I

CTD Direct Evidence: marker/mechanism

NCBI chr19:30,541,887...31,742,675
Ensembl chr19:30,541,889...31,742,433

G

prostaglandin I2 (prostacyclin) synthase

treatment
susceptibility

protein:decreased expression:pulmonary artery (human)
human gene in a rat model
rat gene in a mouse model

RGD

PMID:15684702 PMID:32673988 PMID:12019369 PMID:10359560

RGD:1580695, RGD:401960100, RGD:401959405, RGD:727270

NCBI chr 2:167,045,114...167,095,069
Ensembl chr 2:167,033,725...167,082,524

G

prostaglandin-endoperoxide synthase 2

anoxia associated;

RGD

PMID:18542928 PMID:19577709

RGD:2300276, RGD:5135495

NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978

G

PTK2 protein tyrosine kinase 2

RGD

NCBI chr15:73,076,951...73,297,192
Ensembl chr15:73,076,951...73,295,129

G

receptor (calcitonin) activity modifying protein 2

mRNA:increased expression:heart right ventricle

RGD

NCBI chr11:101,137,160...101,139,076
Ensembl chr11:101,136,854...101,150,372

G

v-rel reticuloendotheliosis viral oncogene homolog A (avian)

protein:altered localization:nucleus, blood vessel endothelial cell, lung
associated with Hypoxia;protein:increased expression:pulmonary artery,smooth muscle tissue (mouse)

RGD

PMID:17934115 PMID:30172777

RGD:2298843, RGD:329955443

NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158

G

resistin like alpha

CTD Direct Evidence: marker/mechanism

NCBI chr16:48,662,972...48,664,824
Ensembl chr16:48,662,914...48,664,824

G

ras homolog family member A

protein:altered localization:pulmonary artery
protein:altered localization:membrane, artery, lung

RGD

PMID:16322374 PMID:18091588

RGD:1642819, RGD:2298877

NCBI chr 9:108,183,359...108,215,142
Ensembl chr 9:108,183,328...108,215,133

G

ryanodine receptor 1, skeletal muscle

protein:altered localization: :

RGD

NCBI chr 7:28,702,765...28,824,599
Ensembl chr 7:28,702,769...28,824,604

G

ryanodine receptor 2, cardiac

protein:increased expression:pulmonary artery

RGD

NCBI chr13:11,567,985...12,121,831
Ensembl chr13:11,567,988...12,121,831

G

ryanodine receptor 3

protein:altered localization: :

RGD

NCBI chr 2:112,461,699...113,047,755
Ensembl chr 2:112,461,700...113,047,441

G

serine (or cysteine) peptidase inhibitor, clade E, member 1

treatment

mRNA, protein:decreased expression:lung
DNA:polymorphism:3'utr

RGD

PMID:18337154 PMID:27115515 PMID:20300292

RGD:4143529, RGD:11073610, RGD:4143527

NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122

G

solute carrier family 1 (neutral amino acid transporter), member 5

protein:increased expression:myocytes plasma membrane, right ventricle

RGD

NCBI chr 7:16,515,259...16,532,199
Ensembl chr 7:16,515,265...16,532,199

G

solute carrier family 2 (facilitated glucose transporter), member 4

RGD

NCBI chr11:69,833,112...69,839,040
Ensembl chr11:69,833,365...69,839,014

G

solute carrier family 31, member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:62,278,821...62,310,006
Ensembl chr 4:62,278,964...62,310,006

G

solute carrier family 6 (neurotransmitter transporter, serotonin), member 4

onset
severity
no_association

DNA:repeat:promoter (human)
CTD Direct Evidence: marker/mechanism
associated with Heart Septal Defects, Ventricular;DNA:polymorphisms (human)
associated with Anoxia
associated with Pulmonary Disease, Chronic Obstructive;DNA:polymorphism (human)
DNA:polymorphism, repeat:promoter, intron (human)

CTD
RGD

PMID:18506000 PMID:16339917 PMID:19886858 PMID:19736308 PMID:11259539 More...

RGD:4889442, RGD:4889430, RGD:4889432, RGD:4889445, RGD:4889434, RGD:4889440, RGD:4889432, RGD:4889435, RGD:4889437

NCBI chr11:76,889,423...76,923,169
Ensembl chr11:76,889,429...76,923,166

G

solute carrier family 8 (sodium/calcium exchanger), member 1

protein:increased expression:pulmonary artery, smooth muscle cell

RGD

NCBI chr17:81,680,534...82,045,816
Ensembl chr17:81,680,534...82,045,806

G

SMAD family member 1

protein:decreased phosphorylation:lung, vascular associated smooth muscle cell
protein:decreased expression, increased phosphorylation:lung

RGD

PMID:17347486 PMID:18367643

RGD:1643222, RGD:12903274

NCBI chr 8:80,065,024...80,126,057
Ensembl chr 8:80,065,024...80,126,147

G

SMAD family member 4

RGD

PMID:17347486 PMID:18367643

RGD:1643222, RGD:12903274

NCBI chr18:73,767,861...73,836,862
Ensembl chr18:73,772,080...73,836,851

G

SMAD family member 6

mRNA:decreased expression:lung

RGD

NCBI chr 9:63,860,358...63,929,374
Ensembl chr 9:63,860,358...63,929,341

G

SMAD family member 7

RGD

NCBI chr18:75,500,436...75,529,006
Ensembl chr18:75,500,600...75,529,006

G

SMAD family member 9

RGD

NCBI chr 3:54,662,873...54,709,162
Ensembl chr 3:54,663,003...54,708,678

G

sphingomyelin phosphodiesterase 3, neutral

treatment

NCBI chr 8:106,979,180...107,064,597
Ensembl chr 8:106,979,180...107,064,620

G

superoxide dismutase 2, mitochondrial

CTD Direct Evidence: marker/mechanism

NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950

G

SRY (sex determining region Y)-box 17

protein:decreased expression:lung (rat)

RGD

NCBI chr 1:4,561,154...4,567,624
Ensembl chr 1:4,561,154...4,567,577

G

tachykinin 1

RGD

NCBI chr 6:7,555,061...7,562,978
Ensembl chr 6:7,554,879...7,565,834

G

tachykinin receptor 1

RGD

NCBI chr 6:82,378,990...82,537,085
Ensembl chr 6:82,379,315...82,537,085

G

tachykinin receptor 2

RGD

NCBI chr10:62,088,217...62,101,769
Ensembl chr10:62,088,217...62,101,769

G

TEK receptor tyrosine kinase

mRNA, protein:increased expression:lung

RGD

NCBI chr 4:94,627,322...94,763,213
Ensembl chr 4:94,627,526...94,763,213

G

telomerase reverse transcriptase

treatment

RGD

PMID:24376652 PMID:24376652

RGD:11038675, RGD:11038675

NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962

G

transforming growth factor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 6:86,172,020...86,252,726
Ensembl chr 6:86,172,205...86,252,701

G

transforming growth factor, beta 1

onset

DNA:SNPs: :multiple (human)
protein:increased expression:blood

RGD

PMID:18496036 PMID:19324949

RGD:4145273, RGD:4145138

NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502

G

transforming growth factor, beta receptor I

RGD

NCBI chr 4:47,353,258...47,414,926
Ensembl chr 4:47,353,222...47,414,931

G

transforming growth factor, beta receptor II

mRNA:decreased expression:lung

RGD

NCBI chr 9:115,916,763...116,004,431
Ensembl chr 9:115,913,361...116,004,428

G

thrombomodulin

associated with Mixed Connective Tissue Disease

RGD

NCBI chr 2:148,246,391...148,250,108
Ensembl chr 2:148,246,386...148,250,108

G

thrombopoietin

protein:increased expression:pulmonary artery, plasma

RGD

NCBI chr16:20,543,204...20,553,261
Ensembl chr16:20,543,204...20,553,261

G

toll-like receptor 4

associated with anoxia

RGD

NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521

G

tenascin C

severity

protein:increased expression:plasma

RGD

PMID:20528622 PMID:16782755 PMID:15879421 PMID:19288153

RGD:4889562, RGD:4889567, RGD:4889570, RGD:4889564

NCBI chr 4:63,878,022...63,965,554
Ensembl chr 4:63,878,022...63,965,252

G

tumor necrosis factor

associated with pulmonary disease, chronic obstructive; protein:increased expression:serum
CTD Direct Evidence: therapeutic
associated with Pulmonary Edema; protein:increased expression:Bronchoalveolar Lavage Fluid

CTD
RGD

PMID:2518282 PMID:16899829 PMID:9628235 PMID:12391106

RGD:4143280, RGD:4142833, RGD:4143422

NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983

G

tryptophan hydroxylase 1

severity

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:18506000 PMID:17675372

NCBI chr 7:46,294,065...46,321,961
Ensembl chr 7:46,294,065...46,321,961

G

tryptophan hydroxylase 2

severity

DNA:SNP: :1473C>G (mouse)

RGD

NCBI chr10:114,914,546...115,020,927
Ensembl chr10:114,914,546...115,020,927

G

transformation related protein 53

treatment

RGD

NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699

G

transformation related protein 53 binding protein 1

protein:increased expression:lung

RGD

NCBI chr 2:121,025,316...121,126,830
Ensembl chr 2:121,023,762...121,101,888

G

transient receptor potential cation channel, subfamily C, member 3

RGD

NCBI chr 3:36,674,626...36,744,276
Ensembl chr 3:36,674,631...36,744,316

G

transient receptor potential cation channel, subfamily C, member 6

RGD

NCBI chr 9:8,543,868...8,680,753
Ensembl chr 9:8,544,143...8,680,742

G

transient receptor potential cation channel, subfamily V, member 4

protein:increased expression:pulmonary artery

RGD

NCBI chr 5:114,760,213...114,796,497
Ensembl chr 5:114,760,213...114,796,482

G

twist basic helix-loop-helix transcription factor 1

treatment

RGD

NCBI chr12:34,007,670...34,009,830
Ensembl chr12:34,007,670...34,009,828

G

urotensin 2

RGD

NCBI chr 4:151,081,554...151,086,267
Ensembl chr 4:151,081,554...151,086,267

G

vascular cell adhesion molecule 1

protein:increased expression:blood vessel endothelium

RGD

NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337

G

vascular endothelial growth factor A

associated with Hypoxia;protein:increased expression:pulmonary artery,smooth muscle tissue (mouse)

RGD

NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295

G

vascular endothelial growth factor B

RGD

NCBI chr19:6,959,840...6,965,019
Ensembl chr19:6,959,841...6,965,019

G

vimentin

protein:increased expression, increased phosphorylation:lung

RGD

NCBI chr 2:13,579,122...13,587,637
Ensembl chr 2:13,578,738...13,587,637

G

vasoactive intestinal polypeptide

RGD

NCBI chr10:5,589,131...5,597,617
Ensembl chr10:5,589,218...5,597,617

G

Von Willebrand factor

RGD

NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642

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

RGD

NCBI chr12:35,547,978...35,584,988
Ensembl chr12:35,547,973...35,585,037

G

cytochrome P450, family 1, subfamily a, polypeptide 1

mRNA:increased expression:lung (rat)

RGD

NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107

G

epidermal growth factor receptor

treatment

RGD

NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158

G

egl-9 family hypoxia-inducible factor 1

RGD

NCBI chr 8:125,635,325...125,676,063
Ensembl chr 8:125,635,326...125,676,063

G

egl-9 family hypoxia-inducible factor 3

RGD

NCBI chr12:54,225,767...54,250,660
Ensembl chr12:54,225,767...54,250,646

G

glucose-6-phosphate dehydrogenase X-linked

treatment

RGD

NCBI chr X:73,453,089...73,472,486
Ensembl chr X:73,453,089...73,472,800

G

glutamic-oxaloacetic transaminase 1, soluble

mRNA:decreased expression:lung (rat)

RGD

NCBI chr19:43,488,191...43,514,743
Ensembl chr19:43,488,191...43,513,044

G

glutamatic-oxaloacetic transaminase 2, mitochondrial

mRNA:decreased expression:lung (rat)

RGD

NCBI chr 8:96,590,761...96,615,029
Ensembl chr 8:96,590,762...96,615,175

G

hydroxyprostaglandin dehydrogenase 15 (NAD)

mRNA, protein:increased expression:lung

RGD

NCBI chr 8:56,747,587...56,774,081
Ensembl chr 8:56,747,620...56,774,078

G

mitofusin 2

mRNA, protein:decreased expression:lung (rat)

RGD

NCBI chr 4:147,958,043...147,989,527
Ensembl chr 4:147,958,056...147,989,161

G

noggin

mRNA,protein:decreased expression:lung:

RGD

NCBI chr11:89,191,464...89,193,385
Ensembl chr11:89,191,464...89,193,158

G

nitric oxide synthase 3, endothelial cell

mRNA,protein:increased expression:pulmonary artery

RGD

NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472

G

proliferating cell nuclear antigen

protein:increased expression:lung (rat)

RGD

NCBI chr 2:132,091,206...132,095,100
Ensembl chr 2:132,091,082...132,095,234

G

prostaglandin I2 (prostacyclin) synthase

treatment

RGD

NCBI chr 2:167,045,114...167,095,069
Ensembl chr 2:167,033,725...167,082,524

G

protein tyrosine phosphatase receptor type D

mRNA, protein:decreased expression:pulmonary artery (rat)

RGD

NCBI chr 4:75,859,474...78,132,282
Ensembl chr 4:75,859,475...78,130,198

G

solute carrier family 39 (zinc transporter), member 12

severity

RGD

PMID:26258299 PMID:26258299

RGD:10401832, RGD:10401832

NCBI chr 2:14,345,476...14,499,787
Ensembl chr 2:14,393,127...14,499,788

G

SRY (sex determining region Y)-box 17

exacerbates

protein:decreased expression:pulmonary artery endothelium (mouse)

RGD

PMID:37066790 PMID:36919784 PMID:36205124 PMID:36913491

RGD:329853316, RGD:329853737, RGD:329853734, RGD:329853317

NCBI chr 1:4,561,154...4,567,624
Ensembl chr 1:4,561,154...4,567,577

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

RGD

NCBI chr15:80,139,385...80,141,746
Ensembl chr15:80,139,385...80,141,742

G

bone morphogenetic protein receptor type 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:59,802,721...59,917,240
Ensembl chr 1:59,802,559...59,918,173

G

DNA-damage inducible transcript 3

protein:increased expression:lung, endothelial cell

RGD

PMID:32209028 PMID:32209028

RGD:38549370, RGD:38549370

NCBI chr10:127,126,662...127,132,160
Ensembl chr10:127,126,643...127,132,157
Ensembl chr10:127,126,643...127,132,157

G

eukaryotic translation initiation factor 2-alpha kinase 2

protein:increased expression:lung

RGD

NCBI chr17:79,157,933...79,190,001
Ensembl chr17:79,159,993...79,190,002

G

eukaryotic translation initiation factor 2 alpha kinase 3

protein:increased expression:lung

RGD

NCBI chr 6:70,821,468...70,882,225
Ensembl chr 6:70,821,499...70,882,229

G

eukaryotic translation initiation factor 2 alpha kinase 4

disease_progression

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

CTD
RGD

PMID:24292273 PMID:32209028 PMID:32209028

RGD:38549370, RGD:38549370

NCBI chr 2:118,219,065...118,305,715
Ensembl chr 2:118,219,099...118,305,715

G

ETS transcription factor

protein:decreased expression:lung

RGD

PMID:32209028 PMID:32209028

RGD:38549370, RGD:38549370

NCBI chr16:95,160,028...95,387,452
Ensembl chr16:95,160,028...95,387,452

G

heme oxygenase 1

protein:increased expression:lung, endothelial cell

RGD

PMID:32209028 PMID:32209028

RGD:38549370, RGD:38549370

NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217

G

potassium channel, subfamily K, member 3

RGD

NCBI chr 5:30,745,514...30,782,614
Ensembl chr 5:30,745,514...30,782,615

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: BMPR2-related condition | ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1

PMID:3291115 PMID:10903931 PMID:11115378 PMID:11502704 PMID:12045205 More...

NCBI chr 1:59,802,721...59,917,240
Ensembl chr 1:59,802,559...59,918,173

G

eukaryotic translation initiation factor 2 alpha kinase 4

ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1

NCBI chr 2:118,219,065...118,305,715
Ensembl chr 2:118,219,099...118,305,715

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 chr 1:59,802,721...59,917,240
Ensembl chr 1:59,802,559...59,918,173

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 chr 2:118,219,065...118,305,715
Ensembl chr 2:118,219,099...118,305,715

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 chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445

G

angiotensin II receptor, type 1a

mRNA:decreased expression:kidney:

RGD

NCBI chr13:30,520,339...30,566,850
Ensembl chr13:30,520,424...30,566,850

G

cyclin dependent kinase inhibitor 1A

protein:decreased expression:vascular associated smooth muscle cell

RGD

NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701

G

C-reactive protein, pentraxin-related

protein:increased expression:serum

RGD

NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598

G

cytochrome P450, family 2, subfamily c, polypeptide 29

NCBI chr19:39,275,541...39,319,157
Ensembl chr19:39,257,849...39,319,157

G

cytochrome P450, family 2, subfamily c, polypeptide 66

RGD

NCBI chr19:39,102,342...39,175,200
Ensembl chr19:39,102,342...39,175,516

G

cytochrome P450, family 2, subfamily j, polypeptide 6

protein:increased expression:kidney

RGD

PMID:10779386 PMID:20495177

RGD:1625381, RGD:7243143

NCBI chr 4:96,404,375...96,449,835
Ensembl chr 4:96,404,375...96,441,898

G

cytochrome P450, family 2, subfamily j, polypeptide 9

protein:increased expression:kidney

PMID:10779386 PMID:20495177

RGD:1625381 RGD:7243143

NCBI chr 4:96,456,661...96,480,748
Ensembl chr 4:96,456,666...96,479,815

G

heme oxygenase 1

RGD

NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217

G

heat shock protein 8

DNA: snp: 5'utr: -110A>C

RGD

NCBI chr 9:40,712,572...40,716,498
Ensembl chr 9:40,712,280...40,721,383

G

interleukin 6

protein:increased expression:serum

RGD

NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979

G

microRNA 214

ameliorates

RGD

NCBI chr 1:162,050,937...162,051,046
Ensembl chr 1:162,050,937...162,051,046

G

matrix metallopeptidase 2

RGD

NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048

G

matrix metallopeptidase 7

protein:increased expression:kidney medulla

RGD

NCBI chr 9:7,692,095...7,699,587
Ensembl chr 9:7,692,091...7,699,587

G

matrix metallopeptidase 9

RGD

NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770

G

NADH dehydrogenase 1, mitochondrial

DNA:missense mutation

RGD

NCBI chr MT:2,751...3,707
Ensembl chr MT:2,751...3,707

G

myosin, heavy polypeptide 9, non-muscle

CTD Direct Evidence: marker/mechanism

NCBI chr15:77,644,788...77,726,315
Ensembl chr15:77,644,787...77,726,375

G

nitric oxide synthase 2, inducible

RGD

NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080

G

nitric oxide synthase 3, endothelial cell

RGD

NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472

G

natriuretic peptide type A

protein:increased expression:plasma:
CTD Direct Evidence: marker/mechanism
associated with Hypertension;protein:increased expression:plasma

CTD
RGD

PMID:8763405 PMID:20139323 PMID:12697975 PMID:15241786

RGD:7248593, RGD:7248660, RGD:7248617

NCBI chr 4:148,085,179...148,086,531
Ensembl chr 4:148,085,179...148,086,536

G

natriuretic peptide type B

protein:increased expression:serum
associated with Hypertension;protein:increased expression:plasma
protein:increased expression:plasma:

RGD

PMID:22188107 PMID:12697975 PMID:20139323

RGD:6907405, RGD:7248660, RGD:7248593

NCBI chr 4:148,070,264...148,071,662
Ensembl chr 4:148,070,245...148,071,662

G

tissue inhibitor of metalloproteinase 4

protein:increased expression:kidney medulla

RGD

NCBI chr 6:115,221,405...115,229,166
Ensembl chr 6:115,218,853...115,229,166

G

tumor necrosis factor

protein:increased expression:serum

RGD

NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983

Renoprival Hypertension

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

catalase

RGD

NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505

renovascular hypertension

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

treatment

RGD

PMID:22342460 PMID:20630208

RGD:6893471, RGD:8157609

NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790

G

adrenomedullin

protein:increased expression:plasma

RGD

NCBI chr 7:110,226,864...110,229,027
Ensembl chr 7:110,226,868...110,229,027

G

adrenergic receptor, beta 1

RGD

PMID:17278011 PMID:15592645

RGD:7241568, RGD:7241580

NCBI chr19:56,710,549...56,713,582
Ensembl chr19:56,710,631...56,721,545

G

angiotensin II receptor, type 1a

mRNA:decreased expression:kidney:

RGD

PMID:21326341 PMID:9644212 PMID:16796846

RGD:5129177, RGD:10047119, RGD:5147455

NCBI chr13:30,520,339...30,566,850
Ensembl chr13:30,520,424...30,566,850

G

angiotensin II receptor, type 1b

treatment

mRNA:increased expression:kidney:

RGD

NCBI chr 3:20,368,637...20,421,341
Ensembl chr 3:20,368,637...20,421,341

G

angiotensin II receptor, type 2

RGD

PMID:21189405 PMID:18158356

RGD:6903867, RGD:6903868

NCBI chr X:21,350,863...21,355,072
Ensembl chr X:21,350,783...21,355,403

G

arginine vasopressin receptor 1A

mRNA:altered expression:brain

RGD

NCBI chr10:122,284,404...122,289,358
Ensembl chr10:122,284,404...122,289,357

G

calcium/calmodulin-dependent protein kinase II, delta

treatment

RGD

NCBI chr 3:126,389,136...126,639,975
Ensembl chr 3:126,389,951...126,639,975

G

cyclin D2

protein:increased expression:left ventricle:

RGD

NCBI chr 6:127,102,125...127,131,913
Ensembl chr 6:127,102,125...127,129,156

G

chymase 1, mast cell

protein:increased activity:kidney (rat)

RGD

NCBI chr14:56,178,908...56,182,132
Ensembl chr14:56,178,908...56,182,132

G

C-X-C motif chemokine ligand 10

RGD

NCBI chr 5:92,494,497...92,496,748
Ensembl chr 5:92,494,497...92,496,748

G

C-X-C motif chemokine receptor 3

RGD

NCBI chr X:100,775,141...100,777,753
Ensembl chr X:100,775,141...100,777,875

G

dual-specificity tyrosine phosphorylation regulated kinase 1a

treatment

RGD

NCBI chr16:94,370,770...94,496,378
Ensembl chr16:94,370,869...94,496,376

G

eukaryotic translation initiation factor 4, gamma 2

mRNA:increased expression:heart left ventricle

RGD

NCBI chr 7:110,667,192...110,682,237
Ensembl chr 7:110,666,957...110,682,237

G

fibronectin 1

RGD

NCBI chr 1:71,624,632...71,692,439
Ensembl chr 1:71,624,679...71,692,359

G

glucose-6-phosphate dehydrogenase X-linked

treatment

RGD

NCBI chr X:73,453,089...73,472,486
Ensembl chr X:73,453,089...73,472,800

G

gap junction protein, alpha 1

RGD

NCBI chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609

G

gap junction protein, alpha 5

RGD

NCBI chr 3:96,939,718...96,960,950
Ensembl chr 3:96,812,009...96,984,732

G

hepatitis A virus cellular receptor 1

protein:increased expression:urine:

RGD

NCBI chr11:46,630,644...46,670,405
Ensembl chr11:46,625,907...46,670,405

G

histone deacetylase 8

treatment

RGD

NCBI chr X:101,328,244...101,549,005
Ensembl chr X:101,328,245...101,548,965

G

laminin, alpha 2

mRNA:decreased expression:heart

RGD

NCBI chr10:26,857,281...27,493,021
Ensembl chr10:26,856,032...27,495,754

G

lipocalin 2

protein:increased expression:urine,plasma

RGD

NCBI chr 2:32,274,649...32,277,751
Ensembl chr 2:32,274,645...32,278,264

G

myeloperoxidase

protein:increased activity:heart, brain, kidney

RGD

NCBI chr11:87,684,610...87,695,238
Ensembl chr11:87,684,407...87,695,239

G

nitric oxide synthase 1, neuronal

RGD

NCBI chr 5:118,004,904...118,096,905
Ensembl chr 5:117,919,097...118,096,905

G

nitric oxide synthase 3, endothelial cell

CTD Direct Evidence: therapeutic

NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472

G

platelet derived growth factor, alpha

mRNA:increased expression:vascular associated smooth muscle cell

RGD

NCBI chr 5:138,961,761...138,986,336
Ensembl chr 5:138,961,769...138,983,125

G

prolactin

protein:increased expression:plasma

RGD

NCBI chr13:27,241,553...27,249,187
Ensembl chr13:27,241,553...27,249,188

G

prostaglandin E receptor 3 (subtype EP3)

protein:increased expression:kidney (rat)

RGD

NCBI chr 3:157,272,459...157,350,392
Ensembl chr 3:157,272,529...157,351,525

G

prostaglandin-endoperoxide synthase 1

RGD

NCBI chr 2:36,106,758...36,142,287
Ensembl chr 2:36,120,438...36,142,284

G

v-rel reticuloendotheliosis viral oncogene homolog A (avian)

protein:increased expression:nucleus, kidney

RGD

NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158

G

renin 1 structural

mRNA:increased expression:renal cortex (mouse)
protein:increased activity:blood plasma (human)

RGD

PMID:22378822 PMID:2240003

RGD:6892688, RGD:125097504

NCBI chr 1:133,278,412...133,288,058
Ensembl chr 1:133,278,248...133,288,063

G

solute carrier family 9 (sodium/hydrogen exchanger), member 1

treatment

RGD

NCBI chr 4:133,097,022...133,151,013
Ensembl chr 4:133,097,017...133,151,013

G

solute carrier family 9 (sodium/hydrogen exchanger), member 3

treatment

RGD

NCBI chr13:74,234,374...74,317,561
Ensembl chr13:74,269,576...74,317,561

G

secreted phosphoprotein 1

RGD

NCBI chr 5:104,582,977...104,588,919
Ensembl chr 5:104,582,984...104,588,916

G

serine and arginine-rich splicing factor 1

treatment

RGD

NCBI chr11:87,937,325...87,944,583
Ensembl chr11:87,938,199...87,944,581

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)

RGD

NCBI chr 2:58,336,450...58,456,840
Ensembl chr 2:58,278,656...58,457,169

G

apurinic/apyrimidinic endonuclease 1

susceptibility

DNA:polymorphism::p.D148E (human)

RGD

NCBI chr14:51,162,406...51,164,645
Ensembl chr14:51,162,425...51,164,596

G

collagen, type IV, alpha 2

severity

mRNA:increased expression:decidua basalis (human)

RGD

NCBI chr 8:11,362,878...11,499,287
Ensembl chr 8:11,362,805...11,499,287

G

endoplasmic reticulum aminopeptidase 1

severity

mRNA:increased expression:decidua basalis (human)

RGD

NCBI chr13:74,787,692...74,841,321
Ensembl chr13:74,787,687...74,841,320

G

glutathione peroxidase 3

protein:increased expression:plasma

RGD

NCBI chr11:54,793,680...54,801,213
Ensembl chr11:54,793,279...54,801,203

G

H19, imprinted maternally expressed transcript

severity

DNA:promoter:exon 1:hypermethylation

RGD

NCBI chr 7:142,129,267...142,131,883
Ensembl chr 7:142,129,262...142,131,917

G

leucyl/cystinyl aminopeptidase

severity

mRNA:increased expression:decidua basalis (human)

RGD

NCBI chr17:17,747,985...17,846,303
Ensembl chr17:17,741,672...17,845,312

G

microRNA 155

severity

miRNA:increased expression:blood serum (human)

RGD

NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092

G

microRNA 210

severity

miRNA:increased expression:blood serum (human)
miRNA:increased expression:blood plasma (human)

RGD

PMID:31487655 PMID:33778218

RGD:155582220, RGD:155582221

NCBI chr 7:140,801,297...140,801,406
Ensembl chr 7:140,801,297...140,801,406

G

retinol binding protein 4, plasma

severity

protein:decreased expression:blood serum (human)
protein:increased expression:blood serum (human)

RGD

PMID:31949674 PMID:27279411 PMID:19573524

RGD:329845847, RGD:329845859, RGD:329845853

NCBI chr19:38,105,068...38,113,769
Ensembl chr19:38,105,077...38,113,729

Weill-Marchesani Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibrillin 1

ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant | ClinVar Annotator: match by term: Weill-Marchesani syndrome 2

PMID:627879 PMID:948948 PMID:1852208 PMID:2005308 PMID:2254511 More...

NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913

Term paths to the root

Path 1
Term	Annotations
disease	16109
disease of anatomical entity	15665
cardiovascular system disease	4567
vascular disease	3242
artery disease	2112
hypertension	1060
Adams Nance Syndrome	0
Diastolic Hypertension, Resistance to	2
Faye-Petersen Ward Carey Syndrome	0
Grange Syndrome	1
Hypertension Resistant to Conventional Therapy	3
Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy	1
Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial	1
Idiopathic Intracranial Hypertension with Papilledema	0
Isolated Systolic Hypertension	2
Kallikrein Hypertension	0
Masked Hypertension	1
Pregnancy-Induced Hypertension +	163
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 +	51
hypertension and brachydactyly syndrome	1
hypertensive retinopathy	2
malignant hypertension +	5
ocular hypertension +	188
pulmonary hypertension +	393
secondary hypertension +	81

paths to the root