hypertension - Ontology Report - Rat Genome Database

RGD

PMID:1570022

RGD:1598531

NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835

Abcc1

ATP binding cassette subfamily C member 1

CTD Direct Evidence: marker/mechanism

PMID:17272743

NCBI chr10:528,961...655,179
Ensembl chr10:531,812...655,114

Abcc8

ATP binding cassette subfamily C member 8

associated with obesity;DNA:polymorphism:exon:

RGD

PMID:11030411

RGD:737749

NCBI chr 1:96,598,663...96,679,495
Ensembl chr 1:96,598,647...96,679,510

Abcc9

ATP binding cassette subfamily C member 9

PMID:15964031 PMID:18471810

protein:decreased expression:aorta

RGD

RGD:1598644, RGD:2301909

NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356

Abo

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

susceptibility

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

RGD

PMID:32379894

RGD:35668862

NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423

Ace

angiotensin I converting enzyme

susceptibility
treatment

ISO
IEP
IMP
IDA

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

CTD
RGD

PMID:15773232 PMID:17473847 PMID:20237592 PMID:27847271 PMID:17283861 More...

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

NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131

Ace2

angiotensin I 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:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977

Acsm3

acyl-CoA synthetase medium-chain family member 3

PMID:8094726 PMID:8507454

RGD

RGD:61050, RGD:634023

NCBI chr 1:174,133,260...174,159,966
Ensembl chr 1:174,133,288...174,160,184

Actc1

actin, alpha, cardiac muscle 1

RGD

PMID:16343576

RGD:1598724

NCBI chr 3:100,811,987...100,817,523
Ensembl chr 3:100,811,987...100,817,523

adenosine deaminase

RGD

NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088

Adamts16

ADAM metallopeptidase with thrombospondin type 1 motif, 16

PMID:12717102 PMID:12717102

RGD

PMID:23185005

RGD:9685162

NCBI chr 1:32,430,436...32,562,481
Ensembl chr 1:32,430,436...32,560,494

Adamts16^em1Bj

ADAM metallopeptidase with thrombospondin type 1 motif, 16; ZFN mutant1,Bj

RGD

adenylate cyclase 5

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

CTD
RGD

RGD:13464134

NCBI chr11:65,471,612...65,618,877
Ensembl chr11:65,471,612...65,618,974

Add1

adducin 1

IAGP
ISO
IDA

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

CTD
RGD

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

RGD:1302895, RGD:631736, RGD:1624953

NCBI chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182

Add2

adducin 2

no_association

PMID:2059221 PMID:24652215 PMID:15118671 PMID:16497648

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

RGD
GAD

RGD:631712, RGD:10047131, RGD:1331525, RGD:1625293

NCBI chr 4:118,444,594...118,538,505
Ensembl chr 4:118,497,416...118,538,505

adducin 3

RGD

NCBI chr 1:252,147,341...252,255,126
Ensembl chr 1:252,147,386...252,255,124

Adipoq

adiponectin, C1Q and collagen domain containing

CTD Direct Evidence: marker/mechanism

PMID:12860835

NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564

Adm

adrenomedullin

PMID:16450076 PMID:16625237

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

RGD

RGD:1625300, RGD:1625298

NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654

Adora1

adenosine A1 receptor

treatment
no_association

IMP
IDA
ISO

associated with diabetes mellitus, experimental

RGD

PMID:8998253 PMID:9597368 PMID:15257174

RGD:1625366, RGD:1625365, RGD:1625367

NCBI chr13:45,658,872...45,695,821
Ensembl chr13:45,658,872...45,695,801

Adora2a

adenosine A2a receptor

no_association

PMID:15257174 PMID:15118671

RGD
GAD

RGD:1625367, RGD:1331525

NCBI chr20:13,315,848...13,333,386
Ensembl chr20:13,315,853...13,333,386

Adra1a

adrenoceptor alpha 1A

PMID:16371063 PMID:19011682

mRNA:decreased expression:aorta

RGD

RGD:1625770, RGD:5688340

NCBI chr15:40,830,125...40,935,902
Ensembl chr15:40,832,534...40,927,500

Adra1b

adrenoceptor alpha 1B

RGD

PMID:16095979

RGD:1625771

NCBI chr10:28,255,025...28,373,418
Ensembl chr10:28,255,025...28,312,919

Adra2a

adrenoceptor alpha 2A

no_association

PMID:10694191 PMID:16636200 PMID:20691504

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

CTD
RGD

RGD:1625183, RGD:6480490

NCBI chr 1:253,061,480...253,064,280
Ensembl chr 1:253,060,218...253,064,365

Adra2b

adrenoceptor alpha 2B

ISO
IMP

DNA:polymorphism (human)

RGD

PMID:18953403 PMID:17070424

RGD:2313541, RGD:2313548

NCBI chr 3:114,585,174...114,589,220
Ensembl chr 3:114,585,169...114,589,355

Adrb1

adrenoceptor beta 1

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

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

CTD
RGD

RGD:5129127, RGD:7241549

NCBI chr 1:255,772,217...255,773,617
Ensembl chr 1:255,771,597...255,807,259

Adrb2

adrenoceptor 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 chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512

Adrb3

adrenoceptor beta 3

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

RGD

PMID:10981554

RGD:2313166

NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552

Ager

advanced glycosylation end product-specific receptor

PMID:32147540 PMID:19018797

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

CTD
RGD

RGD:2325653

NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078

Agt

angiotensinogen

treatment
no_association
susceptibility

IEP
ISO
IDA
IMP

protein:increased expression:plasma, urine
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)
DNA:polymorphism: :p.M268T (human)

ClinVar
CTD
RGD

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

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

NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977

Agtr1a

angiotensin II receptor, type 1a

no_association
susceptibility

IMP
ISO
IEP

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

CTD
RGD

PMID:8952600 PMID:19047579 PMID:23603059 PMID:27292124 PMID:21040717 More...

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

NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946

Agtr1b

angiotensin II receptor, type 1b

PMID:22728133 PMID:27847271 PMID:10994756

CTD Direct Evidence: marker/mechanism

CTD
RGD

RGD:1598885

NCBI chr 2:102,844,969...102,920,232
Ensembl chr 2:102,844,969...102,920,232

Agtr2

angiotensin II receptor, type 2

IMP
ISO
IEP

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:112,119,673...112,124,060
Ensembl chr X:112,120,228...112,124,057

Agtrap

angiotensin II receptor-associated protein

protein:increased expression:kidney

RGD

PMID:18725581

RGD:2314351

NCBI chr 5:158,507,427...158,519,036
Ensembl chr 5:158,508,749...158,519,036

Ahcy

adenosylhomocysteinase

associated with hyperhomocysteinemia

RGD

PMID:16815886

RGD:1601153

NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393

Ahr

aryl hydrocarbon receptor

CTD Direct Evidence: marker/mechanism

PMID:21115475

NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568

Aif1

allograft inflammatory factor 1

CTD Direct Evidence: marker/mechanism

PMID:32147540

NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668

Akt1

AKT serine/threonine kinase 1

protein:increased serine phosphorylation:kidney

RGD

PMID:23323219

RGD:10041025

NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921

Akt2

AKT serine/threonine kinase 2

mRNA:increased expression:cerebral cortex (rat)

RGD

PMID:12902546

RGD:2313350

NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817

Alad

aminolevulinate dehydratase

no_association

PMID:20123609 PMID:11335187

DNA:polymorphism
CTD Direct Evidence: marker/mechanism

CTD
RGD

RGD:1601156

NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474

Alb

albumin

CTD Direct Evidence: therapeutic

PMID:2526952

NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836

Aldh2

aldehyde dehydrogenase 2 family member

susceptibility
no_association

PMID:11510748 PMID:12484509

RGD

RGD:1601164, RGD:1601163

NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521

Alox12

arachidonate 12-lipoxygenase, 12S type

mRNA:decreased expression:medulla oblongata

RGD

PMID:16445702

RGD:5509789

NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542

Alox15

arachidonate 15-lipoxygenase

CTD Direct Evidence: marker/mechanism

PMID:22467300

NCBI chr10:55,060,169...55,068,885
Ensembl chr10:55,060,412...55,068,874

Alox5

arachidonate 5-lipoxygenase

RGD

PMID:16331105

RGD:1626151

NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743

Angpt1

angiopoietin 1

PMID:16942942 PMID:18285514

protein:increased expression:plasma, platelet

RGD

RGD:1626157, RGD:2316068

NCBI chr 7:73,528,345...73,783,953
Ensembl chr 7:73,531,486...73,784,067

Anxa1

annexin A1

PMID:22228705 PMID:16109804

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

CTD
RGD

RGD:1599668

NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343

Aoc1

amine oxidase, copper containing 1

CTD Direct Evidence: marker/mechanism

PMID:6218830

NCBI chr 4:77,812,260...77,831,846
Ensembl chr 4:77,812,260...77,831,840

Aoc3

amine oxidase, copper containing 3

CTD Direct Evidence: marker/mechanism

PMID:23154672

NCBI chr10:86,272,757...86,280,702

Apln

apelin

mRNA:decreased expression:aorta, heart

RGD

PMID:15664402

RGD:1626176

NCBI chr X:127,180,801...127,213,567
Ensembl chr X:127,203,823...127,213,391

Apoa1

apolipoprotein A1

PMID:18224302 PMID:23401751

CTD Direct Evidence: marker/mechanism

CTD
RGD

RGD:7241867

NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035

apolipoprotein B

GAD

NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497

Apoe

apolipoprotein E

onset

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

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

CTD
RGD

RGD:1331525, RGD:6904214

NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932

App

amyloid beta precursor protein

RGD

PMID:29713228

RGD:13703136

NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561

Aqp1

aquaporin 1

PMID:22228705 PMID:20156423

CTD Direct Evidence: marker/mechanism

CTD
RGD

RGD:5148031

NCBI chr 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690

Aqp2

aquaporin 2

PMID:16788141 PMID:16582573

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

RGD

RGD:1601242, RGD:1601243

NCBI chr 7:130,711,433...130,716,468
Ensembl chr 7:130,711,413...130,716,468

aquaporin 4

RGD

NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856

androgen receptor

treatment

IDA
ISO
IMP

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:10523385 PMID:15746697 PMID:12397037

RGD:1601245, RGD:10043316

NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925

Arg1

arginase 1

PMID:18475148 PMID:17223136

mRNA:increased expression:aorta (rat)

RGD

RGD:4142834, RGD:1626296

NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422

Arg2

arginase 2

PMID:18475148 PMID:20039818 PMID:17223136

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

RGD

RGD:4142834, RGD:4143278, RGD:1626296

NCBI chr 6:97,936,002...97,961,379
Ensembl chr 6:97,936,002...97,961,378

Arhgdia

Rho GDP dissociation inhibitor alpha

PMID:19689474 PMID:25164814

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

RGD

RGD:9684972, RGD:9684979

NCBI chr10:105,854,526...105,858,020
Ensembl chr10:105,854,533...105,858,023

Arid1b

AT-rich interaction domain 1B

treatment

RGD

PMID:17489020

RGD:9587762

NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493

Arrb2

arrestin, beta 2

protein:decreased expression:rostral ventrolateral medulla

RGD

PMID:27861247

RGD:13506896

NCBI chr10:55,146,887...55,154,854
Ensembl chr10:55,146,818...55,154,850

Atf2

activating transcription factor 2

RGD

PMID:11358932

RGD:10047414

NCBI chr 3:58,718,323...58,795,280
Ensembl chr 3:58,718,332...58,795,236

Atg7

autophagy related 7

protein:increased expression:skeletal muscle

RGD

PMID:24119246

RGD:11557985

NCBI chr 4:147,718,663...147,925,656
Ensembl chr 4:147,718,752...147,925,593

Atox1

antioxidant 1 copper chaperone

CTD Direct Evidence: therapeutic

PMID:22753205

NCBI chr10:39,564,855...39,579,892
Ensembl chr10:39,564,857...39,579,950

Atp1a1

ATPase Na+/K+ transporting subunit alpha 1

PMID:23416519 PMID:8082931

CTD Direct Evidence: marker/mechanism

CTD
RGD

RGD:1579862

NCBI chr 2:189,020,722...189,048,826
Ensembl chr 2:189,020,722...189,048,837

Atp1a2

ATPase Na+/K+ transporting subunit alpha 2

susceptibility

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

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

CTD
RGD

RGD:1601253, RGD:1601254, RGD:1601251

NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544

Atp2a3

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3

RGD

PMID:11208768

RGD:68726

NCBI chr10:57,581,742...57,612,758
Ensembl chr10:57,582,128...57,612,748

Atp2b1

ATPase plasma membrane Ca2+ transporting 1

PMID:19430479 PMID:20137670

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

CTD
RGD

RGD:2317726

NCBI chr 7:33,735,595...33,845,226
Ensembl chr 7:33,735,871...33,843,295

Atp2b3

ATPase plasma membrane Ca2+ transporting 3

CTD Direct Evidence: marker/mechanism

PMID:23416519

NCBI chr X:151,216,483...151,289,069
Ensembl chr X:151,216,507...151,286,775

Atp5f1a

ATP synthase F1 subunit alpha

protein:decreased expression:heart left ventricle (rat)

RGD

PMID:24388463

RGD:7800726

NCBI chr18:71,292,406...71,300,342
Ensembl chr18:71,292,374...71,300,794

Atp6ap2

ATPase H+ transporting accessory protein 2

RGD

PMID:21321306

RGD:5132599

NCBI chr X:10,183,983...10,210,948
Ensembl chr X:10,183,068...10,210,918

Avp

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 3:117,793,447...117,805,091
Ensembl chr 3:117,793,457...117,795,425

Avpr1a

arginine vasopressin receptor 1A

PMID:15475662 PMID:15657301 PMID:17653244

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

RGD

RGD:2300330, RGD:2300322, RGD:2300319

NCBI chr 7:58,114,306...58,118,230
Ensembl chr 7:58,114,284...58,122,215

Avpr2

arginine vasopressin receptor 2

severity

RGD

PMID:12072411

RGD:1298694

NCBI chr X:151,633,501...151,636,000
Ensembl chr X:151,633,522...151,635,989

B2m

beta-2 microglobulin

protein:increased expression:serum

RGD

PMID:15957539

RGD:1601306

NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766

Bad

BCL2-associated agonist of cell death

treatment

RGD

PMID:20065158

RGD:10053702

NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823

Bax

BCL2 associated X, apoptosis regulator

treatment

RGD

PMID:20065158

RGD:10053702

NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368

Bche

butyrylcholinesterase

RGD

PMID:12387587

RGD:1601322

NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148

Bcl2

BCL2, apoptosis regulator

treatment

PMID:10075388 PMID:20065158

CTD Direct Evidence: marker/mechanism

CTD
RGD

RGD:10053702

NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743

Bdkrb1

bradykinin receptor B1

IMP
IEP
ISO

RGD

PMID:17988733 PMID:12025958 PMID:15643125

RGD:5129214, RGD:704378, RGD:1625732

NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747

Bdkrb2

bradykinin receptor B2

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

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

CTD
RGD

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

NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497

Becn1

beclin 1

protein:increased expression:brain

RGD

PMID:23499735

RGD:11561939

NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742

Bmal2

basic helix-loop-helix ARNT like 2

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

RGD

PMID:17728404

RGD:2314371

NCBI chr 4:179,699,432...179,747,710
Ensembl chr 4:179,699,502...179,746,949

Brca1

BRCA1, DNA repair associated

treatment

RGD

PMID:24239235

RGD:8693672

NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304

Brs3

bombesin receptor subtype 3

RGD

PMID:9367152

RGD:734661

NCBI chr X:134,906,817...134,932,321
Ensembl chr X:134,906,784...134,930,983

complement C3

RGD

PMID:22416803

RGD:11040890

NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429

Cacna1c

calcium voltage-gated channel subunit alpha1 C

CTD Direct Evidence: marker/mechanism

PMID:22949532

NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648

Cacna2d1

calcium voltage-gated channel auxiliary subunit alpha2delta 1

CTD Direct Evidence: marker/mechanism

PMID:22949532

NCBI chr 4:18,950,611...19,374,969
Ensembl chr 4:18,951,002...19,374,969

Cacnb2

calcium voltage-gated channel auxiliary subunit beta 2

susceptibility

DNA:SNP: :rs4373814(human)

RGD

PMID:24338417

RGD:13513987

NCBI chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106

Calca

calcitonin-related polypeptide alpha

CTD Direct Evidence: therapeutic

PMID:1849535 PMID:9887042

NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105

Casp3

caspase 3

treatment

IDA
IEP

RGD

PMID:20065158 PMID:27929425

RGD:10053702, RGD:13782308

NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648

caspase 8

RGD

NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542

caspase 9

RGD

NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626

Cat

catalase

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

CTD Direct Evidence: marker/mechanism

CTD
RGD

RGD:1580833

NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478

Cav1

caveolin 1

PMID:1798635 PMID:17986358

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

CTD
RGD

RGD:2289116

NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705

Cbs

cystathionine beta synthase

CTD Direct Evidence: marker/mechanism

PMID:18224302

NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764

Ccl2

C-C motif chemokine ligand 2

treatment

PMID:20667508 PMID:27292124 PMID:17989143 PMID:17922026 PMID:18459944

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

CTD
RGD

RGD:2307054, RGD:8549771, RGD:2307029

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

Ccl28

C-C motif chemokine ligand 28

no_association

PMID:19829664 PMID:16840655

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

RGD

RGD:4892132, RGD:2298761

NCBI chr 2:51,601,354...51,625,999
Ensembl chr 2:51,601,331...51,625,997

Ccl5

C-C motif chemokine ligand 5

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

RGD

PMID:15668187

RGD:2307105

NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377

Ccn2

cellular communication network factor 2

CTD Direct Evidence: marker/mechanism

PMID:16685210

NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734

Ccne1

cyclin E1

protein:increased expression:vascular associated smooth muscle cell

RGD

PMID:12847112

RGD:2289296

NCBI chr 1:90,781,947...90,791,188
Ensembl chr 1:90,781,949...90,791,101

Ccr5

C-C motif chemokine receptor 5

PMID:20044442 PMID:12680626

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

RGD

RGD:4890416, RGD:1581182

NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260

Cd14

CD14 molecule

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

RGD

PMID:22072187

RGD:7204129

NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261

Cd36

CD36 molecule

PMID:18587397 PMID:18587397

CTD Direct Evidence: marker/mechanism

CTD
RGD

RGD:2300254

NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903

Cd82

Cd82 molecule

mRNA:increased expression:thymus

RGD

PMID:10321446

RGD:2289422

NCBI chr 3:79,387,361...79,431,847
Ensembl chr 3:79,385,887...79,431,809

Cdkn2a

cyclin-dependent kinase inhibitor 2A

protein:increased expression:kidney

RGD

PMID:18504326

RGD:2316082

NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149

Cdo1

cysteine dioxygenase type 1

protein:decreased expression:brain

RGD

PMID:6726227

RGD:2301363

NCBI chr18:39,432,473...39,447,253
Ensembl chr18:39,432,474...39,447,296

Cela2a

chymotrypsin like elastase 2A

PMID:21602471 PMID:31358993

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

CTD
ClinVar

NCBI chr 5:154,126,879...154,136,630
Ensembl chr 5:154,126,878...154,136,632

Chga

chromogranin A

no_association

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

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

RGD

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

NCBI chr 6:121,696,051...121,707,399
Ensembl chr 6:121,696,051...121,707,398

Chi3l1

chitinase 3 like 1

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

RGD

PMID:18703386

RGD:4892597

NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787

Chst12

carbohydrate sulfotransferase 12

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

RGD

PMID:25001272

RGD:8693701

NCBI chr12:14,110,631...14,129,099
Ensembl chr12:14,110,393...14,129,057

Clcnka

chloride voltage-gated channel Ka

CTD Direct Evidence: marker/mechanism

PMID:18480177

NCBI chr 5:153,691,208...153,706,295
Ensembl chr 5:153,691,209...153,706,148

Clcnkb

chloride voltage-gated channel Kb

no_association

PMID:15148291 PMID:16003175

DNA:polymorphism:T481S

RGD

RGD:1600684, RGD:1600683

NCBI chr 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153

Cldn16

claudin 16

Protein:decreased serine phosphorylation:kidney

RGD

PMID:16959063

RGD:1599616

NCBI chr11:74,290,298...74,309,588
Ensembl chr11:74,290,298...74,309,588

Clock

clock circadian regulator

mRNA:altered expression:gastrocnemius muscle (rat)

RGD

PMID:22076133

RGD:9686076

NCBI chr14:31,908,542...31,992,673
Ensembl chr14:31,908,566...31,990,400

Clu

clusterin

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

RGD

PMID:15925890

RGD:1581195

NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315

Cma1

chymase 1

CTD Direct Evidence: marker/mechanism

PMID:14620933

NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233

Cnr1

cannabinoid receptor 1

RGD

PMID:19133994

RGD:2314680

NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099

Col1a1

collagen type I alpha 1 chain

CTD Direct Evidence: marker/mechanism

PMID:11682445

NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624

Col3a1

collagen type III alpha 1 chain

CTD Direct Evidence: marker/mechanism

PMID:11682445

NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547

Col4a5

collagen type IV alpha 5 chain

ClinVar Annotator: match by term: Hypertension

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

PMID:9848783 PMID:11223851 PMID:17396119 PMID:19728970 PMID:19965530 More...

NCBI chr X:105,118,762...105,322,699
Ensembl chr X:105,118,820...105,322,692

Comt

catechol-O-methyltransferase

susceptibility

IEP
IDA
ISO

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

RGD

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

NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642

Corin

corin, serine peptidase

PMID:17485366 PMID:16216958

RGD

RGD:1626338, RGD:1581219

NCBI chr14:35,680,601...35,910,703
Ensembl chr14:35,681,304...35,909,503

Cox5b

cytochrome c oxidase subunit 5B

protein:decreased expression:heart left ventricle

RGD

PMID:16132109

RGD:2301377

NCBI chr 9:38,921,980...38,923,806
Ensembl chr 9:38,921,967...38,925,052

Cps1

carbamoyl-phosphate synthase 1

protein:decreased expression:liver, mitochondrion

RGD

PMID:19135993

RGD:2303405

NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033

Crhr1

corticotropin releasing hormone receptor 1

corticotropin releasing hormone-induced

RGD

PMID:11036160

RGD:1581302

NCBI chr10:89,040,203...89,083,481
Ensembl chr10:89,040,203...89,083,481

Crhr2

corticotropin releasing hormone receptor 2

CTD Direct Evidence: marker/mechanism

PMID:10742107

NCBI chr 4:84,222,897...84,265,924
Ensembl chr 4:84,224,002...84,265,904

Crp

C-reactive protein

RGD:5131461, RGD:9586008, RGD:9491754

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...

NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178

Ctf1

cardiotrophin 1

PMID:15716706 PMID:8604995

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

RGD

RGD:1626411, RGD:69823

NCBI chr 1:182,328,035...182,336,346
Ensembl chr 1:182,328,090...182,333,335

cathepsin C

RGD

NCBI chr 1:142,028,386...142,059,841
Ensembl chr 1:142,028,392...142,060,387

Cxcl2

C-X-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075

Cxcr2

C-X-C motif chemokine receptor 2

CTD Direct Evidence: marker/mechanism

PMID:27678262

NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425

Cyba

cytochrome b-245 alpha chain

RGD:4775206, RGD:1580276, RGD:2317853

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

CTD
RGD

PMID:16685210 PMID:17324946 PMID:20505675 PMID:32147540 PMID:17109653 More...

NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721

Cybb

cytochrome b-245 beta chain

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

CTD
RGD

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

RGD:1599685

NCBI chr X:13,360,583...13,392,517
Ensembl chr X:13,359,430...13,392,586

Cyp11a1

cytochrome P450, family 11, subfamily a, polypeptide 1

PMID:19837774 PMID:7981756

mRNA:increased expression:hypothalamus

RGD

PMID:16116051

RGD:1599701

NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338

Cyp11b1

cytochrome P450, family 11, subfamily b, polypeptide 1

IEP
IAGP

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

RGD

RGD:4891156, RGD:69709

NCBI chr 7:106,772,597...106,780,536
Ensembl chr 7:106,718,274...106,779,278

Cyp11b2

cytochrome P450, family 11, subfamily b, polypeptide 2

ISO
IMP
IEP

DNA:transition:5' utr:-344C>T (human)
mRNA:increased expression:brainstem, hippocampus, cortex (rat)

RGD

PMID:10024332 PMID:18495825 PMID:19837774

RGD:4891152, RGD:2307304, RGD:4891156

NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004

Cyp11b3

cytochrome P450, family 11, subfamily b, polypeptide 3

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

PMID:12213905 PMID:12788845 PMID:17003099

NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048

Cyp19a1

cytochrome P450, family 19, subfamily a, polypeptide 1

mRNA:decreased expression:ovary (rat)

RGD

PMID:19228890

RGD:4761326

NCBI chr 8:54,553,165...54,580,758
Ensembl chr 8:54,553,165...54,580,758

Cyp1a1

cytochrome P450, family 1, subfamily a, polypeptide 1

PMID:20634294 PMID:22995157 PMID:20634294

CTD Direct Evidence: marker/mechanism

CTD
RGD

RGD:7257731

NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125

Cyp2c11

cytochrome P450, subfamily 2, polypeptide 11

PMID:19669737 PMID:18829737

RGD

RGD:6903909, RGD:6903915

NCBI chr 1:236,762,719...236,799,069
Ensembl chr 1:236,762,842...236,799,066

Cyp2j4

cytochrome P450, family 2, subfamily j, polypeptide 4

susceptibility

PMID:17286575 PMID:20501636

DNA:SNP

RGD

RGD:1625379, RGD:7243136

NCBI chr 5:111,179,981...111,207,490
Ensembl chr 5:111,178,703...111,244,794

Cyp4a1

cytochrome P450, family 4, subfamily a, polypeptide 1

PMID:16144986 PMID:16339392 PMID:18952718

mRNA:decreased expression:kidney cortex

RGD

RGD:1625567, RGD:2303383, RGD:2303381

NCBI chr 5:129,123,323...129,137,464
Ensembl chr 5:129,123,336...129,137,464

Cyp4a8

cytochrome P450, family 4, subfamily a, polypeptide 8

PMID:18952718 PMID:16339392

mRNA:decreased expression:kidney cortex

RGD

RGD:2303381, RGD:2303383

NCBI chr 5:128,702,130...128,733,476
Ensembl chr 5:128,702,131...128,733,476

Cyp4f1

cytochrome P450, family 4, subfamily f, polypeptide 1

mRNA:increased expression:kidney

RGD

PMID:16182239

RGD:2301709

NCBI chr 7:12,010,850...12,022,497
Ensembl chr 7:12,010,852...12,022,046

Dars2

aspartyl-tRNA synthetase 2 (mitochondrial)

ClinVar Annotator: match by term: Hypertension

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

NCBI chr13:73,308,726...73,336,558
Ensembl chr13:73,308,726...73,336,934

Dbh

dopamine beta-hydroxylase

resistance

PMID:20596792 PMID:20814407

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

RGD

RGD:5129234, RGD:5129211

NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248

Ddah1

dimethylarginine dimethylaminohydrolase 1

susceptibility

RGD

PMID:16444868

RGD:1625582

NCBI chr 2:234,667,499...234,800,322
Ensembl chr 2:234,667,491...234,799,339

Dio2

iodothyronine deiodinase 2

susceptibility

RGD

PMID:17224473

RGD:1626437

NCBI chr 6:109,665,523...109,679,809
Ensembl chr 6:109,665,523...109,679,809

Drd1

dopamine receptor D1

PMID:10948075 PMID:8636408

RGD

RGD:1580869, RGD:1300303

NCBI chr17:10,540,440...10,544,971
Ensembl chr17:10,540,558...10,545,002

Drd2

dopamine receptor D2

PMID:11566895 PMID:15939106 PMID:11494094

DNA:polymorphism
CTD Direct Evidence: marker/mechanism

CTD
RGD

RGD:1600905, RGD:1580874

NCBI chr 8:49,708,903...49,772,888
Ensembl chr 8:49,708,927...49,772,875

dopamine receptor D3

RGD

NCBI chr11:56,879,689...56,931,901
Ensembl chr11:56,879,689...56,940,596

dopamine receptor D5

RGD

NCBI chr14:72,489,347...72,490,774
Ensembl chr14:72,489,347...72,490,774

Dusp1

dual specificity phosphatase 1

mRNA, protein:increased expression:aorta

RGD

PMID:9231829

RGD:2298678

NCBI chr10:16,680,489...16,683,276

Dusp5

dual specificity phosphatase 5

CTD Direct Evidence: marker/mechanism

PMID:25397684

NCBI chr 1:252,538,408...252,555,320
Ensembl chr 1:252,538,449...252,551,818

Dynll1

dynein light chain LC8-type 1

treatment

RGD

PMID:24035314

RGD:13207430

NCBI chr12:41,312,367...41,314,742
Ensembl chr12:41,312,367...41,314,741

Ece1

endothelin converting enzyme 1

PMID:12566389 PMID:12193123 PMID:10894793

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

CTD
RGD

RGD:1580907, RGD:7244182

NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371

Edn1

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 chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885

Edn2

endothelin 2

PMID:10976780 PMID:10489105 PMID:15007037

mRNA:increased expression:leukocyte

RGD

RGD:1580916, RGD:1580917, RGD:1625402

NCBI chr 5:133,751,316...133,756,814
Ensembl chr 5:133,751,217...133,756,814

Edn3

endothelin 3

CTD Direct Evidence: marker/mechanism

PMID:2059916

NCBI chr 3:163,562,307...163,586,636
Ensembl chr 3:163,562,520...163,585,093

Ednra

endothelin receptor type A

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

associated with Uremia
CTD Direct Evidence: marker/mechanism

CTD
RGD

RGD:4892284, RGD:1580950, RGD:1581830

NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049

Ednrb

endothelin receptor type B

IEP
IMP

associated with Uremia

RGD

PMID:20144075 PMID:10749572

RGD:4892284, RGD:628518

NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115

Egfr

epidermal growth factor receptor

mRNA, protein:increased expression:renal cortex

RGD

PMID:15827348

RGD:1580953

NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382

Egln1

egl-9 family hypoxia-inducible factor 1

RGD

PMID:22686466

RGD:11252087

NCBI chr19:52,867,914...52,907,169
Ensembl chr19:52,869,486...52,907,777

Eif4g2

eukaryotic translation initiation factor 4, gamma 2

mRNA:increased expression:heart left ventricle

RGD

PMID:12708758

RGD:10755511

NCBI chr 1:165,181,433...165,193,583
Ensembl chr 1:165,181,434...165,193,588

Eln

elastin

CTD Direct Evidence: marker/mechanism

PMID:17039479

NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928

Emilin1

elastin microfibril interfacer 1

RGD

PMID:16530041

RGD:1580958

NCBI chr 6:25,455,974...25,463,736
Ensembl chr 6:25,445,298...25,463,698

Eng

endoglin

mRNA:decreased expression:kidney (rat)

RGD

PMID:19829664

RGD:4892132

NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230

enolase 1

RGD

NCBI chr 5:160,719,951...160,731,337
Ensembl chr 5:160,719,951...160,731,336

Eno2

enolase 2

severity

protein:increased expression:serum

RGD

PMID:21130083

RGD:5508770

NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980

Entpd2

ectonucleoside triphosphate diphosphohydrolase 2

RGD

PMID:20655932

RGD:9685529

NCBI chr 3:8,213,575...8,219,094
Ensembl chr 3:8,213,663...8,226,866

Ep300

E1A binding protein p300

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

protein:increased expression:left ventricle (rat)

RGD

PMID:18292809

RGD:2312265

NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088

Ephx2

epoxide hydrolase 2

susceptibility

IDA
IMP
ISO

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

RGD

RGD:1580985, RGD:5688733, RGD:5688730, RGD:5688727

NCBI chr15:40,289,901...40,327,632
Ensembl chr15:40,289,902...40,327,615

Epo

erythropoietin

CTD Direct Evidence: marker/mechanism

PMID:1516988 PMID:10694834

NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946

Epor

erythropoietin receptor

susceptibility

induced by erythropoietin;

RGD

PMID:19458615

RGD:11041646

NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257

Erap1

endoplasmic reticulum aminopeptidase 1

CTD Direct Evidence: marker/mechanism

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

PMID:13678427

NCBI chr 2:3,931,817...3,970,735
Ensembl chr 2:3,931,904...3,972,447

Esr2

estrogen receptor 2

ISO
IMP

RGD

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

NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919

F11

coagulation factor XI

CTD Direct Evidence: marker/mechanism

PMID:6383834

NCBI chr16:46,986,107...47,009,015
Ensembl chr16:46,986,107...47,008,437

F11r

F11 receptor

susceptibility

PMID:18067551 PMID:17420334

DNA:SNPs: :rs790056, rs2774276 (human)

RGD

RGD:7488938, RGD:7488939

NCBI chr13:83,873,797...83,897,388
Ensembl chr13:83,873,797...83,897,402

F12

coagulation factor XII

PMID:6383834 PMID:16638441 PMID:25741868

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

CTD
ClinVar

NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530

F2r

coagulation factor II (thrombin) receptor

RGD

PMID:9168786

RGD:1581034

NCBI chr 2:26,869,343...26,885,856
Ensembl chr 2:26,868,404...26,885,870

coagulation factor III, tissue factor

treatment

RGD

PMID:21423288

RGD:11341709

NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668

coagulation factor VII

PMID:10450539 PMID:8123879 PMID:812575

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

RGD

RGD:2312402, RGD:2312412, RGD:2312323

NCBI chr16:76,489,779...76,500,636
Ensembl chr16:76,489,717...76,500,610

Fabp1

fatty acid binding protein 1

possibly associated with arteriosclerosis (MeSH:D001161)

RGD

PMID:15830271

RGD:1626441

NCBI chr 4:103,191,015...103,194,791
Ensembl chr 4:103,191,006...103,194,788

Fabp3

fatty acid binding protein 3

susceptibility

DNA:SNPs

RGD

PMID:18437121

RGD:2307331

NCBI chr 5:142,651,962...142,658,707
Ensembl chr 5:142,651,956...142,658,718

Fadd

Fas associated via death domain

treatment

RGD

PMID:24355328

RGD:11344883

NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653

Fads1

fatty acid desaturase 1

RGD

PMID:12144877

RGD:1625415

NCBI chr 1:206,827,724...206,842,734
Ensembl chr 1:206,827,765...206,842,734

Fah

fumarylacetoacetate hydrolase

mRNA:decreased expression:kidney

RGD

PMID:15731461

RGD:1559295

NCBI chr 1:138,548,830...138,571,599
Ensembl chr 1:138,548,834...138,571,505

Fbn1

fibrillin 1

protein:increased expression:renal glomerulus (rat)

RGD

PMID:16380460

RGD:7365080

NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889

Fgf2

fibroblast growth factor 2

associated with Aortic Coarctation

RGD

PMID:17562191

RGD:8655614

NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221

Fgf21

fibroblast growth factor 21

CTD Direct Evidence: therapeutic

PMID:29706566

NCBI chr 1:96,083,495...96,084,738
Ensembl chr 1:96,083,441...96,090,454

Fmo3

flavin containing dimethylaniline monoxygenase 3

no_association

PMID:9536088 PMID:16324215

associated with trimethylaminuria, OMIM:602079

RGD

RGD:1626461, RGD:1626466

NCBI chr13:75,309,367...75,334,915
Ensembl chr13:75,309,374...75,328,028

Fn1

fibronectin 1

ISO
IEP
IAGP

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 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678

Fndc5

fibronectin type III domain containing 5

CTD Direct Evidence: therapeutic

PMID:32165127

NCBI chr 5:141,481,593...141,491,257
Ensembl chr 5:141,481,590...141,490,731

Fos

Fos proto-oncogene, AP-1 transcription factor subunit

PMID:12044476 PMID:24039778 PMID:16696897

CTD Direct Evidence: marker/mechanism

CTD
RGD

RGD:7242185

NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036

Foxp3

forkhead box P3

treatment

RGD

PMID:24420551

RGD:38549366

NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838

Fxyd2

FXYD domain-containing ion transport regulator 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:45,712,887...45,720,032
Ensembl chr 8:45,712,903...45,720,203

Gabbr1

gamma-aminobutyric acid type B receptor subunit 1

mRNA:increased expression:brain

RGD

PMID:18338268

RGD:2315462

NCBI chr20:1,464,534...1,494,114
Ensembl chr20:1,464,534...1,493,994

Gad1

glutamate decarboxylase 1

CTD Direct Evidence: marker/mechanism

PMID:32165127

NCBI chr 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333

Gal

galanin and GMAP prepropeptide

PMID:10818254 PMID:15275958

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

CTD
RGD

RGD:1624333

NCBI chr 1:200,650,439...200,655,302
Ensembl chr 1:200,650,439...200,654,959

Gata5

GATA binding protein 5

susceptibility

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

RGD

PMID:26617239

RGD:11343485

NCBI chr 3:167,418,563...167,426,751
Ensembl chr 3:167,418,565...167,426,751

Gcg

glucagon

CTD Direct Evidence: marker/mechanism

NCBI chr 3:47,113,914...47,122,929
Ensembl chr 3:47,113,914...47,122,929

Gch1

GTP cyclohydrolase 1

CTD Direct Evidence: marker/mechanism

PMID:12855421

NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698

Gck

glucokinase

susceptibility

RGD

PMID:9324112

RGD:1581877

NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995

Gclc

glutamate-cysteine ligase, catalytic subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544

Ghsr

growth hormone secretagogue receptor

associated with Obesity

RGD

PMID:24760503

RGD:12910115

NCBI chr 2:110,268,489...110,271,865
Ensembl chr 2:110,268,489...110,271,865

Gja1

gap junction protein, alpha 1

treatment

PMID:16448880 PMID:16448880 PMID:23719203

CTD Direct Evidence: marker/mechanism

CTD
RGD

RGD:7207810, RGD:8662439

NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582

Gja4

gap junction protein, alpha 4

CTD Direct Evidence: marker/mechanism

PMID:16448880

NCBI chr 5:139,633,324...139,635,857
Ensembl chr 5:139,633,287...139,635,925

Gja5

gap junction protein, alpha 5

treatment

PMID:19109587 PMID:19686729 PMID:11821709

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

CTD
RGD

RGD:7207417, RGD:7207848

NCBI chr 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952

Gjc1

gap junction protein, gamma 1

CTD Direct Evidence: therapeutic

PMID:19109587

NCBI chr10:87,758,192...87,785,443
Ensembl chr10:87,760,528...87,785,867

Glp1r

glucagon-like peptide 1 receptor

PMID:22228705 PMID:12093887

CTD Direct Evidence: marker/mechanism

CTD
RGD

RGD:625448

NCBI chr20:8,972,004...9,010,241
Ensembl chr20:8,972,004...9,010,241

Gnai2

G protein subunit alpha i2

treatment

PMID:27912212 PMID:15106810

RGD

RGD:13507308, RGD:13508592

NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979

Gnai3

G protein subunit alpha i3

treatment

RGD

PMID:15106810

RGD:13508592

NCBI chr 2:195,742,765...195,780,720
Ensembl chr 2:195,742,642...195,780,742

Gnas

GNAS complex locus

PMID:9506701 PMID:12215464 PMID:15118671

CTD Direct Evidence: marker/mechanism

CTD
RGD

RGD:1580404, RGD:1331525

NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262

Gnb3

G protein subunit beta 3

susceptibility
no_association

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

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

CTD
RGD

RGD:1580410, RGD:1580408, RGD:2313206

NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173

Gnrh1

gonadotropin releasing hormone 1

CTD Direct Evidence: marker/mechanism

PMID:6350720

NCBI chr15:41,972,482...41,976,690
Ensembl chr15:41,972,905...41,973,581
Ensembl chr15:41,972,905...41,973,581

Gp1ba

glycoprotein Ib platelet subunit alpha

CTD Direct Evidence: marker/mechanism

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

NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774

Gpx1

glutathione peroxidase 1

treatment

ISO
IDA
IEP

CTD Direct Evidence: marker/mechanism

CTD
RGD

RGD:1600704, RGD:11353777, RGD:11352825

NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024

Grk2

G protein-coupled receptor kinase 2

treatment

PMID:11901213 PMID:10642272 PMID:23913704

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

CTD
RGD

RGD:1625788, RGD:13792716

NCBI chr 1:201,581,480...201,601,580
Ensembl chr 1:201,581,480...201,601,582

Grk3

G protein-coupled receptor kinase 3

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

RGD

PMID:26248277

RGD:11535540

NCBI chr12:43,624,778...43,735,375
Ensembl chr12:43,624,897...43,731,262

Grk5

G protein-coupled receptor kinase 5

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

RGD

PMID:26248277

RGD:11535540

NCBI chr 1:260,028,269...260,223,699
Ensembl chr 1:260,028,242...260,218,701

Gsk3b

glycogen synthase kinase 3 beta

treatment

PMID:22982863 PMID:22982863

CTD Direct Evidence: marker/mechanism

CTD
RGD

RGD:10045670

NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646

Gsr

glutathione-disulfide reductase

RGD

PMID:17198913

RGD:1600704

NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661

Gsta5

glutathione S-transferase alpha 5

CTD Direct Evidence: marker/mechanism

NCBI chr 8:79,105,561...79,117,472
Ensembl chr 8:79,105,661...79,117,472

Gstm1

glutathione S-transferase mu 1

mRNA:decreased expression:kidney (rat)

RGD

PMID:15699453

RGD:7495838

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

Gstm2

glutathione S-transferase mu 2

PMID:18008142 PMID:12624007

mRNA:decreased expression:kidney (rat)

RGD

RGD:2302178, RGD:631154

NCBI chr 2:195,624,015...195,628,774
Ensembl chr 2:195,544,426...195,628,961

Gstp1

glutathione S-transferase pi 1

CTD Direct Evidence: marker/mechanism

PMID:24915237

NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226

Gstt1

glutathione S-transferase theta 1

PMID:22228705 PMID:11477481

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

CTD
RGD

RGD:5490587

NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585

Gstt2

glutathione S-transferase, theta 2

CTD Direct Evidence: marker/mechanism

NCBI chr20:12,819,617...12,823,288
Ensembl chr20:12,819,170...12,823,288

Gucy1a1

guanylate cyclase 1 soluble subunit alpha 1

CTD Direct Evidence: marker/mechanism

PMID:18339647

NCBI chr 2:167,418,615...167,482,293
Ensembl chr 2:167,418,640...167,481,671

H2ax

H2A.X variant histone

treatment

RGD

PMID:24239235

RGD:8693672

NCBI chr 8:44,671,927...44,673,257
Ensembl chr 8:44,671,786...44,673,239

Havcr1

hepatitis A virus cellular receptor 1

protein:increased expression:urine

RGD

PMID:23085980

RGD:7245484

NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698

Hdac6

histone deacetylase 6

protein:increased expression, activity:heart:

RGD

PMID:23868068

RGD:9681716

NCBI chr X:14,550,645...14,572,445
Ensembl chr X:14,551,044...14,572,441

Hdac8

histone deacetylase 8

protein:decreased expression:heart (mouse, rat)

RGD

PMID:28567090

RGD:13208602

NCBI chr X:67,385,288...67,593,014
Ensembl chr X:67,385,289...67,592,923

Hgf

hepatocyte growth factor

susceptibility

PMID:15127882 PMID:15127882

DNA:polymorphism:intron13:C/A

RGD

RGD:1642064, RGD:1642064

NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409

Hif1a

hypoxia inducible factor 1 subunit alpha

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

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

CTD
RGD

RGD:1626322, RGD:1626330, RGD:1626317

NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261

Hmgb1

high mobility group box 1

CTD Direct Evidence: marker/mechanism

PMID:32147540

NCBI chr12:5,973,062...5,978,565
Ensembl chr12:5,901,586...5,978,565

Hmox1

heme oxygenase 1

susceptibility
treatment

RGD:1598400, RGD:10755717, RGD:1580453

CTD Direct Evidence: marker/mechanism|therapeutic

CTD
RGD

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

NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079

haptoglobin

susceptibility
onset

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

DNA:polymorphism
CTD Direct Evidence: marker/mechanism

CTD
RGD

RGD:1626351, RGD:7241867, RGD:1626352

NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523

Hrh2

histamine receptor H 2

CTD Direct Evidence: marker/mechanism

PMID:30310171

NCBI chr17:10,368,355...10,407,791
Ensembl chr17:10,368,298...10,407,631

Hrh3

histamine receptor H3

PMID:9050021 PMID:9050021

CTD Direct Evidence: marker/mechanism

CTD
RGD

RGD:1626409

NCBI chr 3:167,191,551...167,196,642
Ensembl chr 3:167,191,558...167,196,642

Hsd11b1

hydroxysteroid 11-beta dehydrogenase 1

CTD Direct Evidence: marker/mechanism

PMID:9683905 PMID:15199296 PMID:21786805

NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687

Hsd11b2

hydroxysteroid 11-beta dehydrogenase 2

IEP
IMP
ISO

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

CTD
RGD

PMID:7670488 PMID:9683905 PMID:9707624 PMID:11082157 PMID:10792625 More...

RGD:2308925, RGD:13800514, RGD:1625078

NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899

Hsd11b2^em1Jmul

hydroxysteroid 11-beta dehydrogenase 2; ZFN induced mutant1, Jmul

RGD

hydroxysteroid (17-beta) dehydrogenase 4

mRNA:decreased expression:renal cortex (rat)

RGD

PMID:18430809

RGD:2292646

NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952

Hsd3b1

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

susceptibility

PMID:19228890 PMID:12054649

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

RGD

RGD:4761326, RGD:1626438

NCBI chr 2:186,169,864...186,175,984
Ensembl chr 2:186,169,863...186,175,999

Hsd3b2

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

mRNA:increased expression:hypothalamus (rat)

RGD

PMID:16116051

RGD:1599701

NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852

Hspa8

heat shock protein family A (Hsp70) member 8

mRNA: increased expression: leukocyte

RGD

PMID:17341625

RGD:6480224

NCBI chr 8:41,183,397...41,187,260
Ensembl chr 8:41,183,264...41,187,259

Hspd1

heat shock protein family D (Hsp60) member 1

PMID:15729290 PMID:18948349

mRNA:increased expression:brain, blood vessel

RGD

RGD:1624213, RGD:10402862

NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662

Hspg2

heparan sulfate proteoglycan 2

mRNA:increased expression:aorta

RGD

PMID:8225534

RGD:1624258

NCBI chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594

Htr1b

5-hydroxytryptamine receptor 1B

protein:increased expression:aorta

RGD

PMID:11882579

RGD:1626447

NCBI chr 8:82,513,572...82,534,892
Ensembl chr 8:82,517,360...82,534,549

Htr2a

5-hydroxytryptamine receptor 2A

susceptibility
no_association

PMID:11378836 PMID:15118671 PMID:15659047

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

RGD
GAD

RGD:1624375, RGD:1331525, RGD:1624371

NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928

Htr2b

5-hydroxytryptamine receptor 2B

CTD Direct Evidence: marker/mechanism

PMID:8627522

NCBI chr 9:86,735,793...86,756,640
Ensembl chr 9:86,742,102...86,755,108

Htra1

HtrA serine peptidase 1

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

RGD

PMID:21682878

RGD:7394697

NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379

Icam1

intercellular adhesion molecule 1

PMID:12149661 PMID:12425201 PMID:18619052

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

CTD
RGD

RGD:2312765

NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438

Ier3

immediate early response 3

CTD Direct Evidence: marker/mechanism

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

PMID:20713914

NCBI chr20:2,928,378...2,929,582
Ensembl chr20:2,928,378...2,929,583

Igf1

insulin-like growth factor 1

severity

ISO
IEP
IAGP

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

CTD
RGD

RGD:1598427, RGD:12904968, RGD:1580474

NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296

Igf1r

insulin-like growth factor 1 receptor

protein:increased expression:aorta:

RGD

PMID:21854769

RGD:10046007

NCBI chr 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777

Igfbp2

insulin-like growth factor binding protein 2

mRNA, protein:decreased expression:liver, plasma

RGD

PMID:9396554

RGD:1626482

NCBI chr 9:74,415,574...74,442,945
Ensembl chr 9:74,415,546...74,442,937

Ikbkb

inhibitor of nuclear factor kappa B kinase subunit beta

treatment

PMID:27659729 PMID:32147540 PMID:19246475

CTD Direct Evidence: marker/mechanism

CTD
RGD

RGD:7495780

NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250

interleukin 10

RGD

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

Il1b

interleukin 1 beta

RGD:1626635, RGD:7175338, RGD:1626638

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

CTD
RGD

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

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

Il1rn

interleukin 1 receptor antagonist

susceptibility

PMID:11585563 PMID:11840488

DNA:polymorphisms

RGD

RGD:1626668, RGD:1626667

NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445

Il6

interleukin 6

susceptibility

associated with end stage renal disease; DNA:polymorphisms:promoter: -174G>C (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:2307283

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

Il6r

interleukin 6 receptor

severity

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

RGD

PMID:11778537

RGD:1625432

NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536

Il6st

interleukin 6 cytokine family signal transducer

severity

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

RGD

PMID:11778537

RGD:1625432

NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936

Inppl1

inositol polyphosphate phosphatase-like 1

PMID:15220217 PMID:15220217

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

CTD
RGD

RGD:1626127

NCBI chr 1:156,183,043...156,197,500
Ensembl chr 1:156,183,059...156,197,500

Ins2

insulin 2

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

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

CTD
RGD

RGD:6902896

NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775

Itga9

integrin subunit alpha 9

susceptibility

DNA:SNP: :rs155524(human)

RGD

PMID:20479155

RGD:13602005

NCBI chr 8:118,307,424...118,615,527
Ensembl chr 8:118,307,381...118,613,754

Itgav

integrin subunit alpha V

protein:increased expression:artery

RGD

PMID:16380536

RGD:1627642

NCBI chr 3:68,838,524...68,926,653
Ensembl chr 3:68,838,189...68,926,639

Itm2b

integral membrane protein 2B

CTD Direct Evidence: marker/mechanism

NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917

Jun

Jun proto-oncogene, AP-1 transcription factor subunit

PMID:24039778 PMID:11358932

CTD Direct Evidence: marker/mechanism

CTD
RGD

RGD:10047414

NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656

Kcna5

potassium voltage-gated channel subfamily A member 5

mRNA:increased expression:heart

RGD

PMID:11358947

RGD:1627659

NCBI chr 4:159,354,689...159,358,173
Ensembl chr 4:159,350,097...159,357,697

Kcnab1

potassium voltage-gated channel subfamily A regulatory beta subunit 1

mRNA:increased expression:aorta, arteries (rat)

RGD

PMID:11358947

RGD:1627659

NCBI chr 2:149,137,025...149,603,540
Ensembl chr 2:149,137,041...149,603,534

Kcnj1

potassium inwardly-rectifying channel, subfamily J, member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:30,779,883...30,808,607
Ensembl chr 8:30,753,617...30,813,796

Kcnj11

potassium inwardly-rectifying channel, subfamily J, member 11

RGD

PMID:15964031

RGD:1598644

NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082

Kcnj8

potassium inwardly-rectifying channel, subfamily J, member 8

RGD

PMID:16051697

RGD:1581698

NCBI chr 4:175,508,908...175,515,829
Ensembl chr 4:175,508,912...175,515,603

Kcnmb1

potassium calcium-activated channel subfamily M regulatory beta subunit 1

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

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

CTD
RGD

RGD:1298970, RGD:10412046, RGD:1581718

NCBI chr10:18,557,510...18,614,824
Ensembl chr10:18,557,904...18,565,798

Kcnq1

potassium voltage-gated channel subfamily Q member 1

DNA:deletion:exon (rat)

RGD

PMID:16368876

RGD:1581602

NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669

Kcnq1^dfk

potassium voltage-gated channel subfamily Q member 1;deafness Kyoto

RGD

kinase insert domain receptor

treatment

PMID:15838270 PMID:20630084

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

RGD

RGD:5684418, RGD:8552374

NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018

Klotho

treatment

IDA
IEP
ISO

mRNA,protein:decreased expression:kidney:

RGD

PMID:10892340 PMID:21051829 PMID:23225045

RGD:1581732, RGD:10403063, RGD:10403062

NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080

Klk1

kallikrein 1

no_association
susceptibility

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

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

RGD
CTD

RGD:1641795, RGD:1581751, RGD:1358144

NCBI chr 1:94,642,722...94,646,714
Ensembl chr 1:94,642,687...94,646,754

Klk1b3

kallikrein 1-related peptidase B3

RGD

PMID:15809361

RGD:1358144

NCBI chr 1:94,709,105...94,713,308
Ensembl chr 1:94,709,105...94,713,308

Klk1c12

kallikrein 1-related peptidase C12

PMID:15905889 PMID:17272402

DNA:polymorphisms

RGD

RGD:1641795, RGD:1641794

NCBI chr 1:94,378,103...94,382,140
Ensembl chr 1:94,378,054...94,382,176

Klkb1

kallikrein B1

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

RGD

PMID:12716755

RGD:7327151

NCBI chr16:46,958,634...46,982,054
Ensembl chr16:46,958,707...46,982,053

Kng2

kininogen 2

CTD Direct Evidence: marker/mechanism

PMID:7027322

NCBI chr11:77,913,876...77,936,247
Ensembl chr11:77,909,612...78,002,971

Kras

KRAS proto-oncogene, GTPase

RGD

PMID:15864294

RGD:1581757

NCBI chr 4:178,185,418...178,218,484

kynureninase

RGD

NCBI chr 3:27,778,646...27,929,470
Ensembl chr 3:27,778,772...27,929,488

Lep

leptin

PMID:22949526 PMID:10999797 PMID:27465994

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 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262

Lepr

leptin receptor

disease_progression

ISO
IMP

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

CTD
RGD

RGD:5129161, RGD:12911217

NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908

Lepr^em2Mcwi

leptin receptor; zinc finger nuclease induced mutant 2, Medical College of Wisconsin

disease_progression

RGD

galectin 3

treatment

RGD

PMID:23117656

RGD:9685203

NCBI chr15:20,620,083...20,632,019
Ensembl chr15:20,607,692...20,632,025

Lhb

luteinizing hormone subunit beta

CTD Direct Evidence: marker/mechanism

PMID:6350720

NCBI chr 1:95,898,269...95,901,973
Ensembl chr 1:95,900,984...95,901,972
Ensembl chr 1:95,900,984...95,901,972

Lipe

lipase E, hormone sensitive type

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

RGD

PMID:17318300

RGD:1625026

NCBI chr 1:80,965,612...80,984,313
Ensembl chr 1:80,965,627...80,984,310

Lipg

lipase G, endothelial type

RGD

PMID:15914124

RGD:1581875

NCBI chr18:68,514,923...68,536,105
Ensembl chr18:68,514,923...68,536,260

Lox

lysyl oxidase

RGD

PMID:8562290 PMID:24127

RGD:1581896, RGD:1581899

NCBI chr18:45,964,311...46,041,477
Ensembl chr18:45,967,343...46,041,477

Lpl

lipoprotein lipase

PMID:22228705 PMID:16132104

CTD Direct Evidence: marker/mechanism

CTD
RGD

RGD:1580535

NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249

Lrp2

LDL receptor related protein 2

protein:altered localization:apical plasma membrane

RGD

PMID:10919857

RGD:1641827

NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708

Lta

lymphotoxin alpha

no_association

RGD

PMID:15533732

RGD:1580415

NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859

Ltf

lactotransferrin

CTD Direct Evidence: therapeutic

PMID:24587916

NCBI chr 8:110,999,948...111,022,795
Ensembl chr 8:110,999,948...111,022,795

Map1lc3a

microtubule-associated protein 1 light chain 3 alpha

RGD

PMID:23499735

RGD:11561939

NCBI chr 3:143,783,024...143,784,670
Ensembl chr 3:143,783,024...143,784,670

Mapk8

mitogen-activated protein kinase 8

RGD

PMID:15302844

RGD:1582315

NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981

Mas1

MAS1 proto-oncogene, G protein-coupled receptor

associated with Sleep Apnea Syndromes

RGD

PMID:21040717

RGD:5129169

NCBI chr 1:47,879,956...47,911,500
Ensembl chr 1:47,880,309...47,911,709

Mc2r

melanocortin 2 receptor

CTD Direct Evidence: marker/mechanism

PMID:11082157

NCBI chr18:62,001,980...62,015,567
Ensembl chr18:62,004,948...62,015,488

Mdh1

malate dehydrogenase 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:95,630,625...95,645,920
Ensembl chr14:95,630,306...95,645,925

Mfn2

mitofusin 2

treatment

PMID:27847271 PMID:25464244

protein:decreased expression:aorta (rat)

RGD

RGD:12910764, RGD:13204764

NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342

Mif

macrophage migration inhibitory factor

RGD

PMID:19799867

RGD:4890974

NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504

Mir145

microRNA 145

miRNA:increased expression:artery wall (human)

RGD

PMID:23339529

RGD:155260305

NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727

Mir214

microRNA 214

treatment

RGD

PMID:30049682

RGD:38500245

NCBI chr13:74,588,374...74,588,481
Ensembl chr13:74,588,372...74,588,481

Mme

membrane metallo-endopeptidase

treatment

RGD

PMID:12011651

RGD:13801039

NCBI chr 2:147,686,913...147,803,808
Ensembl chr 2:147,722,086...147,803,792

Mmp1

matrix metallopeptidase 1

PMID:15363819 PMID:19506087

protein:decreased expression:renal glomerulus (human)

RGD

RGD:1582532, RGD:2312464

NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097

Mmp2

matrix metallopeptidase 2

PMID:18836702 PMID:17977875 PMID:16840178

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

CTD
RGD

RGD:2290351, RGD:1582612

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

Mmp7

matrix metallopeptidase 7

treatment

PMID:19398663 PMID:19398663

RGD

RGD:9685347, RGD:9685347

NCBI chr 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902

Mmp9

matrix metallopeptidase 9

susceptibility

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

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

CTD
RGD

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

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

Mov10

Mov10 RISC complex RNA helicase

susceptibility

DNA:SNP: :rs2932538(human)

RGD

PMID:24338417

RGD:13513987

NCBI chr 2:192,292,041...192,315,142
Ensembl chr 2:192,293,470...192,315,083

Moxd2

monooxygenase, DBH-like 2

CTD Direct Evidence: marker/mechanism

PMID:3814904

NCBI chr 4:69,724,693...69,733,188
Ensembl chr 4:69,724,239...69,733,299

msh homeobox 2

RGD

NCBI chr17:11,097,214...11,102,879
Ensembl chr17:11,097,103...11,102,879

Mtor

mechanistic target of rapamycin kinase

PMID:19289642 PMID:23323219

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

CTD
RGD

RGD:10041025

NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311

Mtpn

myotrophin

IEP
IDA

RGD

PMID:12419325 PMID:12031792

RGD:632799, RGD:1581046

NCBI chr 4:64,159,273...64,186,686
Ensembl chr 4:64,157,641...64,186,724

Mtr

5-methyltetrahydrofolate-homocysteine methyltransferase

RGD

PMID:15148588

RGD:1581050

NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822

Mttp

microsomal triglyceride transfer protein

onset

DNA:polymorphism:promoter:-493G>T

RGD

PMID:16328015

RGD:1625485

NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239

Mybph

myosin binding protein H

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

RGD

PMID:23460292

RGD:12802369

NCBI chr13:45,653,156...45,660,893
Ensembl chr13:45,653,234...45,660,893

Myd88

MYD88, innate immune signal transduction adaptor

CTD Direct Evidence: marker/mechanism

PMID:27292124

NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415

Myh7

myosin heavy chain 7

PMID:32147540 PMID:9686760

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

CTD
RGD

RGD:9835388

NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217

Myo6

myosin VI

protein:altered localization:renal proximal tubule, microvillus

RGD

PMID:16107581

RGD:2314963

NCBI chr 8:81,087,157...81,242,022
Ensembl chr 8:81,087,139...81,239,292

Myod1

myogenic differentiation 1

mRNA:decreased expression:gastrocnemius

RGD

PMID:22076133

RGD:9686076

NCBI chr 1:96,884,864...96,887,574
Ensembl chr 1:96,884,948...96,887,554

Ncf1

neutrophil cytosolic factor 1

CTD Direct Evidence: marker/mechanism

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

NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646

Ncf2

neutrophil cytosolic factor 2

protein:increased expression:heart left ventricle

RGD

PMID:19307699

RGD:2314430

NCBI chr13:64,955,502...64,986,289
Ensembl chr13:64,955,503...64,986,277

Nedd4l

NEDD4 like E3 ubiquitin protein ligase

CTD Direct Evidence: marker/mechanism

PMID:18524855 PMID:23348737

NCBI chr18:58,393,759...58,726,709
Ensembl chr18:58,393,509...58,723,137

Nfe2l2

NFE2 like bZIP transcription factor 2

treatment

PMID:32165127 PMID:23775684

CTD Direct Evidence: marker/mechanism

CTD
RGD

RGD:10412717

NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737

Nfkbia

NFKB inhibitor alpha

treatment

RGD

PMID:19246475

RGD:7495780

NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941

nerve growth factor

RGD

NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452

Ngfr

nerve growth factor receptor

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

RGD

PMID:8762194

RGD:5508800

NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518

Nherf1

NHERF family PDZ scaffold protein 1

RGD

PMID:15311100

RGD:1580741

NCBI chr10:100,403,189...100,420,290
Ensembl chr10:100,403,069...100,420,598

Nherf2

NHERF family PDZ scaffold protein 2

PMID:22228705 PMID:15311100

CTD Direct Evidence: marker/mechanism

CTD
RGD

RGD:1580741

NCBI chr10:13,662,461...13,672,975
Ensembl chr10:13,662,461...13,673,049

nischarin

RGD

NCBI chr16:6,364,370...6,400,675
Ensembl chr16:6,364,374...6,400,668

Nos1

nitric oxide synthase 1

treatment

IEP
IDA
IMP

mRNA:decreased expression:bladder, penis

RGD

PMID:17574276 PMID:23201071 PMID:15913838 PMID:16093913 PMID:15775788 More...

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

NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945

Nos2

nitric oxide synthase 2

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

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

CTD
RGD

RGD:1580264, RGD:1298023

NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210

Nos3

nitric oxide synthase 3

treatment
no_association

IEP
IDA
ISO

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

NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166

Nox4

NADPH oxidase 4

IEP
ISO
IMP

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 1:140,900,886...141,078,844
Ensembl chr 1:140,901,097...141,077,406

Nppa

natriuretic peptide A

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

CTD
RGD

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

RGD:7248593

NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351

Nppb

natriuretic peptide 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 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168

Nppc

natriuretic peptide C

severity

PMID:11775888 PMID:12452325

associated with Pregnancy Complications;protein:increased expression:plasma

RGD

RGD:1642292, RGD:1580150

NCBI chr 9:87,320,051...87,324,251
Ensembl chr 9:87,320,051...87,324,251

Npr1

natriuretic peptide receptor 1

PMID:20881240 PMID:12511524

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

CTD
RGD

RGD:628585

NCBI chr 2:175,934,181...175,950,118
Ensembl chr 2:175,934,181...175,949,505

Npr3

natriuretic peptide receptor 3

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

RGD

PMID:12872042

RGD:1580175

NCBI chr 2:60,865,483...60,933,432
Ensembl chr 2:60,870,594...60,932,955

Nptn

neuroplastin

CTD Direct Evidence: marker/mechanism

PMID:15699473 PMID:18835922 PMID:11689216

NCBI chr 8:58,996,876...59,063,402
Ensembl chr 8:58,996,887...59,063,401

Npy

neuropeptide Y

IMP
IEP
ISO

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

RGD

RGD:1357410, RGD:10448968, RGD:1580177

NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495

Npy1r

neuropeptide Y receptor Y1

RGD

PMID:15699473

RGD:1357410

NCBI chr16:23,037,788...23,047,330
Ensembl chr16:23,037,789...23,046,759

Nqo1

NAD(P)H quinone dehydrogenase 1

treatment

RGD

PMID:21502369

RGD:11035215

NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557

Nr2f2

nuclear receptor subfamily 2, group F, member 2

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

RGD

PMID:25687237

RGD:10401852

NCBI chr 1:124,008,282...124,022,521
Ensembl chr 1:124,009,181...124,022,031

Nr2f2^em1Mcwi

nuclear receptor subfamily 2, group F, member 2; zinc finger nuclease induced mutant 1, Medical College of Wisconsin

RGD

nuclear receptor subfamily 3, group C, member 1

IMP
ISO

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

CTD
RGD

RGD:4892208, RGD:7174714

NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375

nudix hydrolase 1

RGD

NCBI chr12:14,302,514...14,309,559
Ensembl chr12:14,302,694...14,305,826

Olr1

oxidized low density lipoprotein receptor 1

PMID:22352330 PMID:9494115

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

CTD
RGD

RGD:633385

NCBI chr 4:162,926,436...162,949,057
Ensembl chr 4:162,926,439...162,948,523

Opa1

OPA1, mitochondrial dynamin like GTPase

protein:increased expression:heart left ventricle (rat)

RGD

PMID:24388463

RGD:7800726

NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109

Orai1

ORAI calcium release-activated calcium modulator 1

CTD Direct Evidence: marker/mechanism

PMID:19897708

NCBI chr12:33,533,151...33,548,361
Ensembl chr12:33,534,344...33,548,405

Oxsr1

oxidative stress responsive kinase 1

CTD Direct Evidence: therapeutic

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

PMID:22949526

NCBI chr 8:118,972,754...119,062,102
Ensembl chr 8:118,972,754...119,062,027

Oxt

oxytocin/neurophysin I prepropeptide

IMP
ISO
IEP

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

CTD
RGD

RGD:2304105, RGD:2304174

NCBI chr 3:117,782,650...117,783,490
Ensembl chr 3:117,782,650...117,783,490

Oxtr

oxytocin receptor

mRNA:decreased expression:brainstem

RGD

PMID:16157794

RGD:2304174

NCBI chr 4:145,598,549...145,614,674
Ensembl chr 4:145,599,561...145,614,674

Pappa

pappalysin

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

RGD

PMID:12224070

RGD:1642331

NCBI chr 5:78,497,660...78,735,873
Ensembl chr 5:78,498,300...78,730,666

Pdgfb

platelet derived growth factor subunit B

RGD

PMID:8869081

RGD:10449484

NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984

Pdgfra

platelet derived growth factor receptor alpha

RGD

PMID:1657776

RGD:11080972

NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335

Pdgfrb

platelet derived growth factor receptor beta

PMID:12047046 PMID:1657776

protein:increased tyrosine phosphorylation:glomerulus

RGD

RGD:2292214, RGD:11080972

NCBI chr18:54,500,002...54,538,843
Ensembl chr18:54,499,964...54,538,843

Pgf

placental growth factor

PMID:18300869 PMID:19015400

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

RGD

PMID:12808329

RGD:1642387

NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685

Pik3r1

phosphoinositide-3-kinase regulatory subunit 1

IEP
IMP

protein:decreased expression:ventricular myocyte (rat)

RGD

RGD:4108492, RGD:4108483

NCBI chr 2:32,878,942...32,963,611
Ensembl chr 2:32,882,032...32,963,631

Pin1

peptidylprolyl cis/trans isomerase, NIMA-interacting 1

RGD

PMID:21810655

RGD:8693428

NCBI chr 8:19,189,408...19,200,785
Ensembl chr 8:19,189,373...19,200,785

Pkd1

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 chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128

Plat

plasminogen activator, tissue type

CTD Direct Evidence: marker/mechanism

PMID:17198910 PMID:1313006

NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223

Plcd1

phospholipase C, delta 1

IEP
IDA

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

RGD

RGD:2300421, RGD:2300423

NCBI chr 8:118,795,196...118,818,186
Ensembl chr 8:118,795,201...118,818,186

Plekha7

pleckstrin homology domain containing A7

ameliorates

RGD

PMID:25136115

RGD:11079199

NCBI chr 1:170,364,524...170,547,843
Ensembl chr 1:170,365,135...170,547,775

Plekha7^em4Mcwi

pleckstrin homology domain containing, family A member 7; zinc finger nuclease induced mutant 4, Medical College of Wisconsin

ameliorates

RGD

plasminogen

CTD Direct Evidence: marker/mechanism

PMID:6383834

NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786

Pnmt

phenylethanolamine-N-methyltransferase

no_association

PMID:17645789 PMID:20378607 PMID:14553966

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

RGD:5130172, RGD:5130152, RGD:5130164

NCBI chr10:83,383,019...83,386,557
Ensembl chr10:83,384,923...83,386,556

Pomc

proopiomelanocortin

CTD Direct Evidence: marker/mechanism|therapeutic

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

NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664

Postn

periostin

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

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

RGD

PMID:21712488

RGD:10041050

NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099

Ppara

peroxisome proliferator activated receptor alpha

treatment

IEP
ISO
IMP

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

CTD
RGD

RGD:2313778, RGD:1580222

NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346

Pparg

peroxisome proliferator-activated receptor gamma

IMP
ISO
IEP
IDA

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

CTD
RGD

PMID:15199296 PMID:19666838 PMID:27292124 PMID:18437150 PMID:20404217 More...

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

NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468

Ppbp

pro-platelet basic protein

CTD Direct Evidence: marker/mechanism

PMID:6192689 PMID:15513305

NCBI chr14:17,302,326...17,303,130
Ensembl chr14:17,302,326...17,303,130

Ppia

peptidylprolyl isomerase A

mRNA:increased expression:alveolar system (human)

RGD

PMID:32496587

RGD:150383342

NCBI chr14:81,279,292...81,282,960
Ensembl chr14:81,275,091...81,299,601

Prkag2

protein kinase AMP-activated non-catalytic subunit gamma 2

ClinVar Annotator: match by term: Hypertension

PMID:25741868 PMID:28492532

NCBI chr 4:10,010,574...10,252,152
Ensembl chr 4:10,010,890...10,252,142

Prkar1b

protein kinase cAMP-dependent type I regulatory subunit beta

RGD

PMID:11161799

RGD:619653

NCBI chr12:15,492,233...15,624,942
Ensembl chr12:15,511,801...15,624,942

Prkca

protein kinase C, alpha

RGD

PMID:15792354

RGD:1581271

NCBI chr10:92,889,390...93,288,013
Ensembl chr10:92,894,012...93,288,012

Prkcb

protein kinase C, beta

PMID:23973649 PMID:10756122 PMID:15792354

RGD

PMID:15804434

RGD:1625513

NCBI chr 1:176,832,173...177,163,539
Ensembl chr 1:176,832,226...177,163,536

Prkcd

protein kinase C, delta

IEP
ISO
IAGP

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

CTD
RGD

RGD:1642534, RGD:1581271

NCBI chr16:5,769,226...5,807,214
Ensembl chr16:5,769,215...5,799,352

Prkce

protein kinase C, epsilon

RGD

PMID:15792354

RGD:1581271

NCBI chr 6:7,965,048...8,451,966
Ensembl chr 6:7,965,048...8,451,719

Prkg1

protein kinase cGMP-dependent 1

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

RGD

PMID:14512447

RGD:7775067

NCBI chr 1:228,409,883...229,638,794
Ensembl chr 1:228,408,947...229,639,080

Prlhr

prolactin releasing hormone receptor

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

RGD

PMID:14691196

RGD:1641832

NCBI chr 1:259,606,704...259,608,391
Ensembl chr 1:259,606,704...259,608,391

Proc

protein C, inactivator of coagulation factors Va and VIIIa

CTD Direct Evidence: marker/mechanism

NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133

Pten

phosphatase and tensin homolog

CTD Direct Evidence: marker/mechanism

PMID:15646324

NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838

Ptgds

prostaglandin D2 synthase

protein:increased expression:serum, urine

RGD

PMID:11882588

RGD:1642584

NCBI chr 3:8,281,899...8,284,833
Ensembl chr 3:8,281,899...8,284,833

Ptgis

prostaglandin I2 synthase

RGD

PMID:12372404

RGD:1298040

NCBI chr 3:155,928,564...155,964,228
Ensembl chr 3:155,916,412...155,965,451

Ptgs2

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 chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188

Pth

parathyroid hormone

PMID:1930854 PMID:23460043

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

CTD
RGD

RGD:7242420

NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530

Ptk2

protein tyrosine kinase 2

IAGP
IEP

protein:increased expression:aorta

RGD

PMID:12732587 PMID:21068519

RGD:729831, RGD:10041072

NCBI chr 7:105,126,725...105,331,848
Ensembl chr 7:105,126,728...105,331,783

Ptk2b

protein tyrosine kinase 2 beta

susceptibility

PMID:18075463 PMID:21068519

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

RGD

RGD:2292575, RGD:10041072

NCBI chr15:40,360,722...40,481,235
Ensembl chr15:40,360,723...40,481,282

Ptpn1

protein tyrosine phosphatase, non-receptor type 1

CTD Direct Evidence: therapeutic

PMID:28899902

NCBI chr 3:156,638,811...156,687,503
Ensembl chr 3:156,638,769...156,687,504

Ptprj

protein tyrosine phosphatase, receptor type, J

RGD

PMID:15710778

RGD:1357414

NCBI chr 3:76,405,917...76,561,842
Ensembl chr 3:76,405,927...76,562,260

Ptpru

protein tyrosine phosphatase, receptor type, U

susceptibility

RGD

PMID:11086029

RGD:1642652

NCBI chr 5:143,950,542...144,024,791
Ensembl chr 5:143,950,965...144,024,768

Qdpr

quinoid dihydropteridine reductase

protein:decreased expression:aorta smooth muscle (rat)

RGD

PMID:19743417

RGD:5128580

NCBI chr14:65,670,251...65,683,853
Ensembl chr14:65,670,131...65,683,854

Rad51

RAD51 recombinase

treatment

RGD

PMID:24239235

RGD:8693672

NCBI chr 3:106,099,753...106,125,038
Ensembl chr 3:106,100,381...106,125,035

Rag1

recombination activating 1

RGD

PMID:23364523

RGD:7207429

NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291

Ralbp1

ralA binding protein 1

CTD Direct Evidence: marker/mechanism

PMID:23821548

NCBI chr 9:105,456,425...105,492,711
Ensembl chr 9:105,456,425...105,492,707

Ramp2

receptor activity modifying protein 2

susceptibility

PMID:15797661 PMID:11600589 PMID:16450076

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

RGD

RGD:1642679, RGD:1642682, RGD:1625300

NCBI chr10:86,187,366...86,190,692
Ensembl chr10:86,188,812...86,231,829

Rasgrp3

RAS guanyl releasing protein 3

RGD

PMID:19421330

RGD:2314812

NCBI chr 6:19,895,366...19,993,945
Ensembl chr 6:19,895,390...19,958,578

Reg3g

regenerating family member 3 gamma

CTD Direct Evidence: marker/mechanism

PMID:27798352

NCBI chr 4:110,922,805...110,927,803
Ensembl chr 4:110,924,168...110,926,723

Rela

RELA proto-oncogene, NF-kB subunit

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

CTD Direct Evidence: marker/mechanism

CTD
RGD

RGD:2298761

NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484

Ren

renin

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

CTD
RGD

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

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

NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489

Resp18

regulated endocrine-specific protein 18

RGD

PMID:29570433

RGD:14348960

NCBI chr 9:76,765,179...76,771,824
Ensembl chr 9:76,764,590...76,778,722

Resp18^em2Mcwi

regulated endocrine-specific protein 18; zinc finger nuclease induced mutant 2, Medical College of Wisconsin

RGD

resistin

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

RGD

PMID:12629116

RGD:1624968

NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620

Rffl

ring finger and FYVE-like domain containing E3 ubiquitin protein ligase

mRNA,protein:increased expression:heart

RGD

PMID:21357277

RGD:13442502

NCBI chr10:67,740,711...67,803,694
Ensembl chr10:67,740,712...67,824,434

Rgs2

regulator of G-protein signaling 2

PMID:1798635 PMID:14608379 PMID:17986358

CTD Direct Evidence: therapeutic

CTD
RGD

RGD:13524579, RGD:2289116

NCBI chr13:55,799,749...55,802,354
Ensembl chr13:55,798,829...55,802,385

Rgs4

regulator of G-protein signaling 4

treatment

RGD

PMID:21825230

RGD:7207400

NCBI chr13:81,936,775...81,943,103
Ensembl chr13:81,936,775...81,943,068

Rgs5

regulator of G-protein signaling 5

treatment

PMID:1798635 PMID:21825230

CTD Direct Evidence: therapeutic

CTD
RGD

RGD:7207400

NCBI chr13:81,848,254...81,885,053
Ensembl chr13:81,836,304...81,885,518

Rhoa

ras homolog family member A

protein:altered localization:mesenteric artery

RGD

PMID:17620967

RGD:1642801

NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746

Rnls

renalase, FAD-dependent amine oxidase

PMID:21964580 PMID:21178975 PMID:21617193

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

RGD

RGD:7327172, RGD:7327174, RGD:7327173

NCBI chr 1:231,037,481...231,309,855
Ensembl chr 1:231,037,486...231,309,823

Rnpep

arginyl aminopeptidase

IEP
IMP

protein:increased expression:adrenal gland, neurohypophysis

RGD

PMID:9660082 PMID:3001599

RGD:2325942, RGD:2325950

NCBI chr13:46,699,458...46,717,829
Ensembl chr13:46,699,463...46,717,998

Rps6kb1

ribosomal protein S6 kinase B1

CTD Direct Evidence: marker/mechanism

PMID:19289642

NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908

RT1-Ba

RT1 class II, locus Ba

DNA:polymorphisms (human)

RGD

PMID:11798899

RGD:5147807

NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744

S100b

S100 calcium binding protein B

protein:increased expression:serum

RGD

PMID:21130083

RGD:5508770

NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743

S1pr1

sphingosine-1-phosphate receptor 1

disease_progression

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

RGD

PMID:17938382

RGD:1643008

NCBI chr 2:203,624,752...203,629,110
Ensembl chr 2:203,621,587...203,629,681

Scnn1a

sodium channel epithelial 1 subunit alpha

CTD Direct Evidence: marker/mechanism

PMID:11752024 PMID:23348737

NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181

Scnn1b

sodium channel epithelial 1 subunit beta

CTD Direct Evidence: marker/mechanism

PMID:15174897 PMID:15198480 PMID:19344079

NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451

Scnn1g

sodium channel epithelial 1 subunit gamma

CTD Direct Evidence: marker/mechanism

PMID:15198480

NCBI chr 1:176,304,942...176,338,816
Ensembl chr 1:176,304,942...176,338,816

Selp

selectin P

CTD Direct Evidence: marker/mechanism

PMID:15513305

NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845

Serpina1

serpin family A member 1

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

protein:increased expression:urine

RGD

PMID:10353322

RGD:1643147

NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339

Serpine1

serpin family E member 1

treatment

ISO
IEP
IDA

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

CTD
RGD

RGD:8547753, RGD:28912746, RGD:11081003

NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657

Serpine2

serpin family E member 2

mRNA, protein:increased expression:blood vessel

RGD

PMID:12524238

RGD:729767

NCBI chr 9:81,124,746...81,188,866
Ensembl chr 9:81,124,804...81,188,826

Serpinf2

serpin family F member 2

RGD

PMID:9361364

RGD:1625531

NCBI chr10:60,272,400...60,280,506
Ensembl chr10:60,272,400...60,281,243

Sgk1

serum/glucocorticoid regulated kinase 1

no_association
susceptibility

PMID:15304560 PMID:16221215

DNA:snps:exon, intron: (human)

RGD

RGD:1580969, RGD:1580968

NCBI chr 1:22,980,257...23,098,122
Ensembl chr 1:22,980,261...23,098,283

Sh2b3

SH2B adaptor protein 3

RGD

PMID:25776069

RGD:13442483

NCBI chr12:34,749,849...34,753,616
Ensembl chr12:34,731,911...34,753,616

Sh2b3^em1Mcwi

SH2B adaptor protein 3; zinc finger nuclease induced mutant 1, Medical College of Wisconsin

RGD

sirtuin 6

exacerbates

RGD

PMID:30894089

RGD:155260334

NCBI chr 7:8,082,312...8,087,776
Ensembl chr 7:8,082,364...8,098,914

Slc12a2

solute carrier family 12 member 2

PMID:17259435 PMID:15020309 PMID:21814290

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

CTD
RGD

RGD:1580582, RGD:9587757

NCBI chr18:51,348,282...51,416,448
Ensembl chr18:51,348,302...51,416,440

Slc12a3

solute carrier family 12 member 3

CTD Direct Evidence: marker/mechanism

PMID:18480177

NCBI chr19:10,630,649...10,679,250
Ensembl chr19:10,631,393...10,669,091

Slc26a4

solute carrier family 26 member 4

RGD

PMID:17120771

RGD:7411553

NCBI chr 6:48,107,575...48,153,762
Ensembl chr 6:48,107,588...48,145,703

Slc2a1

solute carrier family 2 member 1

protein:increased expression:renal glomerulus

RGD

PMID:12771048

RGD:12879474

NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416

Slc2a3

solute carrier family 2 member 3

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

RGD

PMID:7598707

RGD:1642812

NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472

Slc34a1

solute carrier family 34 member 1

ClinVar Annotator: match by term: Hypertension

PMID:16638441 PMID:25741868

NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852

Slc4a4

solute carrier family 4 member 4

protein:increased expression:kidney cortex

RGD

PMID:15340004

RGD:1600028

NCBI chr14:18,841,289...19,293,297
Ensembl chr14:18,845,159...19,272,883

Slc5a2

solute carrier family 5 member 2

RGD

PMID:14506074

RGD:1599050

NCBI chr 1:182,847,185...182,853,309
Ensembl chr 1:182,847,106...182,853,306

Slc6a18

solute carrier family 6 member 18

CTD Direct Evidence: marker/mechanism

PMID:15121838

NCBI chr 1:29,607,288...29,621,925
Ensembl chr 1:29,608,077...29,621,925

Slc6a19

solute carrier family 6 member 19

mRNA:increased expression

RGD

PMID:17264310

RGD:1600036

NCBI chr 1:29,586,205...29,604,960
Ensembl chr 1:29,586,195...29,604,962

Slc6a2

solute carrier family 6 member 2

PMID:22533655 PMID:17124432

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

CTD
RGD

RGD:1624279

NCBI chr19:14,010,292...14,055,317
Ensembl chr19:14,010,386...14,050,357

Slc6a3

solute carrier family 6 member 3

protein:increased expression:caudate-putamen

RGD

PMID:9074541

RGD:1625656

NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413

Slc8a1

solute carrier family 8 member A1

PMID:16343576 PMID:15785003 PMID:15824464

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

RGD

RGD:1598724, RGD:1580732, RGD:1580586

NCBI chr 6:13,194,609...13,547,369
Ensembl chr 6:13,194,662...13,535,628

Slc9a3

solute carrier family 9 member A3

PMID:11880335 PMID:12372791

RGD

RGD:737665, RGD:727447

NCBI chr 1:29,124,633...29,167,912
Ensembl chr 1:29,124,674...29,167,417

Sod1

superoxide dismutase 1

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:16716903 More...

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

NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249

Sod2

superoxide dismutase 2

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

CTD Direct Evidence: marker/mechanism

CTD
RGD

RGD:1580833

NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189

Sod3

superoxide dismutase 3

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

CTD Direct Evidence: marker/mechanism|therapeutic

CTD
RGD

RGD:1580845, RGD:1581232

NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990

Sqstm1

sequestosome 1

protein:decreased expression:brain

RGD

PMID:23499735

RGD:11561939

NCBI chr10:34,525,517...34,536,685
Ensembl chr10:34,525,519...34,536,673

Src

SRC proto-oncogene, non-receptor tyrosine kinase

RGD

PMID:16157790

RGD:1601372

NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476

Srf

serum response factor

RGD

PMID:16822834

RGD:1580749

NCBI chr 9:14,426,453...14,435,734
Ensembl chr 9:14,426,472...14,435,733

Sst

somatostatin

protein:altered expression:stomach

RGD

PMID:17928643

RGD:2303191

NCBI chr11:76,956,896...76,958,173
Ensembl chr11:76,956,896...76,958,173

Stim1

stromal interaction molecule 1

CTD Direct Evidence: marker/mechanism

PMID:19897708

NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363

Stk11

serine/threonine kinase 11

CTD Direct Evidence: marker/mechanism

PMID:19289642

NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315

Stk39

serine threonine kinase 39

CTD Direct Evidence: therapeutic

PMID:22949526

NCBI chr 3:52,913,583...53,179,060
Ensembl chr 3:52,913,585...53,179,060

Sts

steroid sulfatase

protein:increased expression:multiple organs

RGD

PMID:8539776

RGD:1601393

NCBI chr X:42,225,131...42,233,403
Ensembl chr X:42,225,372...42,233,402

Tac3

tachykinin precursor 3

protein:increased expression:supraoptic nucleus, medulla oblongata

RGD

PMID:2478257

RGD:2305983

NCBI chr 7:63,562,552...63,569,170
Ensembl chr 7:63,562,552...63,569,170

Tacr1

tachykinin receptor 1

CTD Direct Evidence: marker/mechanism

PMID:21294877

NCBI chr 4:114,920,844...115,089,733
Ensembl chr 4:114,920,844...115,089,733

Tacr3

tachykinin receptor 3

RGD

PMID:2471579

RGD:2305984

NCBI chr 2:223,266,536...223,363,791
Ensembl chr 2:223,266,536...223,363,791

Tbxas1

thromboxane A synthase 1

PMID:9370383 PMID:16192456

associated with hyperinsulinism

RGD

RGD:1601472, RGD:1601439

NCBI chr 4:67,664,963...67,837,096
Ensembl chr 4:67,665,007...67,837,096

transferrin

protein:decreased expression

RGD

PMID:14974364

RGD:1601524

NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511

Tgfb1

transforming growth factor, beta 1

IEP
IAGP
ISO

protein:increased expression:vascular associated smooth muscle cell
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:11907153 PMID:11682445 More...

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

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

Tgfb3

transforming growth factor, beta 3

no_association

DNA:polymorphism, SNPs

RGD

PMID:15924806

RGD:1625704

NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564

Tgm2

transglutaminase 2

CTD Direct Evidence: marker/mechanism

PMID:17898543

NCBI chr 3:146,772,684...146,801,924
Ensembl chr 3:146,772,687...146,801,981

tyrosine hydroxylase

susceptibility

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

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

CTD
RGD

RGD:1601630, RGD:1601631

NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767

Thbd

thrombomodulin

treatment

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

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

RGD

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

NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193

Timp1

TIMP metallopeptidase inhibitor 1

PMID:21051829 PMID:19506087 PMID:17977875

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

CTD
RGD

RGD:2312464, RGD:2290351

NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664

Tjp2

tight junction protein 2

protein:decreased expression:brain

RGD

PMID:17234953

RGD:1600163

NCBI chr 1:221,709,745...221,838,383
Ensembl chr 1:221,709,745...221,838,295

Tlr4

toll-like receptor 4

CTD Direct Evidence: marker/mechanism

PMID:27292124 PMID:32147540

NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628

Tnf

tumor necrosis factor

treatment

IAGP
ISO
IMP

CTD Direct Evidence: marker/mechanism

CTD
RGD

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

RGD:1357163, RGD:1580207

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

Tnfrsf11b

TNF receptor superfamily member 11B

severity

protein:increased expression:serum

RGD

PMID:22050177

RGD:7205512

NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538

Tp53

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

Tpm1

tropomyosin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802

Trh

thyrotropin releasing hormone

PMID:6350720 PMID:17227965

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

CTD
RGD

RGD:1600406

NCBI chr 4:124,742,111...124,777,094
Ensembl chr 4:124,742,111...124,744,637

Trhr

thyrotropin releasing hormone receptor

RGD

PMID:7554113

RGD:1580745

NCBI chr 7:75,348,672...75,393,310
Ensembl chr 7:75,348,672...75,393,309

Trpc3

transient receptor potential cation channel, subfamily C, member 3

CTD Direct Evidence: marker/mechanism

PMID:17351372

NCBI chr 2:119,481,313...119,619,333
Ensembl chr 2:119,481,400...119,558,855

Trpc5

transient receptor potential cation channel, subfamily C, member 5

CTD Direct Evidence: marker/mechanism

PMID:17351372

NCBI chr X:107,946,163...108,230,978
Ensembl chr X:107,939,131...108,230,991

Ucn

urocortin

PMID:20237592 PMID:16915033

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

CTD
RGD

RGD:1642775

NCBI chr 6:25,238,120...25,238,950
Ensembl chr 6:25,238,120...25,238,950

Ucn2

urocortin 2

human protein in rat model

RGD

PMID:19204182

RGD:5508437

NCBI chr 8:109,637,624...109,639,173
Ensembl chr 8:109,638,285...109,639,172

Ucp1

uncoupling protein 1

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

RGD

PMID:17635070

RGD:2313626

NCBI chr19:24,808,782...24,816,853
Ensembl chr19:24,808,783...24,816,852

Ucp2

uncoupling protein 2

treatment

PMID:16685210 PMID:15106800 PMID:20404217

CTD Direct Evidence: marker/mechanism

CTD
RGD

RGD:1580794, RGD:7175297

NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611

uncoupling protein 3

RGD

NCBI chr 1:154,815,777...154,828,764
Ensembl chr 1:154,815,777...154,828,762

Umod

uromodulin

CTD Direct Evidence: marker/mechanism

NCBI chr 1:173,816,341...173,829,681
Ensembl chr 1:173,816,339...173,830,302

Uts2

urotensin 2

PMID:16160878 PMID:15201550 PMID:14621188

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

CTD
RGD

RGD:1580808, RGD:1580812

NCBI chr 5:161,450,846...161,456,235
Ensembl chr 5:161,450,846...161,456,237

urotensin 2 receptor

RGD

NCBI chr10:106,438,092...106,439,252
Ensembl chr10:106,438,092...106,439,252

Vav3

vav guanine nucleotide exchange factor 3

CTD Direct Evidence: marker/mechanism

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

PMID:21115475

NCBI chr 2:197,011,901...197,354,321
Ensembl chr 2:197,011,831...197,354,321

Vcam1

vascular cell adhesion molecule 1

disease_progression

IEP
IAGP
ISO

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

RGD:2313107, RGD:1643008, RGD:7241235

NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958

Vdr

vitamin D receptor

CTD Direct Evidence: marker/mechanism

PMID:11335187

NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677

Vegfa

vascular endothelial growth factor A

treatment

PMID:16164572 PMID:20630084

associated with Prostatic Neoplasms

RGD

RGD:1580573, RGD:8552374

NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641

Vhl

von Hippel-Lindau tumor suppressor

RGD

PMID:12500216

RGD:1580371

NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377

Vwf

von Willebrand factor

treatment

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

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

CTD
RGD

RGD:1601646

NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539

Wnk1

WNK lysine deficient protein kinase 1

PMID:22949526 PMID:16301342

CTD Direct Evidence: marker/mechanism

CTD
RGD

RGD:1580829

NCBI chr 4:153,128,334...153,253,905
Ensembl chr 4:153,128,334...153,253,905

Wnk4

WNK lysine deficient protein kinase 4

no_association

PMID:22949526 PMID:12642508 PMID:15110905

CTD Direct Evidence: marker/mechanism

CTD
RGD

RGD:629611, RGD:1580830

NCBI chr10:86,202,552...86,219,655
Ensembl chr10:86,188,812...86,231,829

Xdh

xanthine dehydrogenase

treatment

IDA
IEP
ISO

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 chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268

Ywhaz

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

treatment

RGD

PMID:22984478

RGD:9587480

NCBI chr 7:67,941,353...67,963,651
Ensembl chr 7:67,940,017...67,963,668

angle-closure glaucoma

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Apoe

apolipoprotein E

susceptibility

DNA:polymorphism:exon:

RGD

PMID:17706090

RGD:7771556

NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932

Cat

catalase

severity

DNA:SNP:promoter:g.4760C>T(rs1001179)(human)

RGD

PMID:23961996

RGD:9068947

NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478

Chat

choline O-acetyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr16:7,657,362...7,717,093
Ensembl chr16:7,657,362...7,717,093

Col11a1

collagen type XI alpha 1 chain

CTD Direct Evidence: marker/mechanism

PMID:22922875 PMID:27064256

NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853

Col18a1

collagen type XVIII alpha 1 chain

ClinVar Annotator: match by term: Glaucoma, primary closed-angle

PMID:12415512 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 More...

NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593

Edn1

endothelin 1

protein:increased expression:plasma (human)

RGD

PMID:21946544

RGD:8661736

NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885

Epdr1

ependymin related 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:45,333,677...45,358,597
Ensembl chr17:45,333,956...45,358,594

Fermt2

FERM domain containing kindlin 2

CTD Direct Evidence: marker/mechanism

NCBI chr15:18,682,927...18,751,959
Ensembl chr15:18,682,927...18,751,811

Glis3

GLIS family zinc finger 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:225,976,029...226,395,849
Ensembl chr 1:225,976,326...226,395,899

Gstm1

glutathione S-transferase mu 1

susceptibility

DNA:deletion, haplotype:cds (human)

RGD

PMID:18334963

RGD:7488955

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

Hgf

hepatocyte growth factor

susceptibility

DNA:SNPs,haplotype::rs5745718,rs1742817(human)

RGD

PMID:23585864

RGD:8548548

NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409

Loxl1

lysyl oxidase-like 1

no_association

DNA:SNPs: :rs1048661, rs2165241, rs3825942 (human)

RGD

PMID:18223248

RGD:7394723

NCBI chr 8:58,692,592...58,716,356
Ensembl chr 8:58,692,593...58,716,356

Mmp9

matrix metallopeptidase 9

no_association

PMID:17110919 PMID:23441116 PMID:23441116 PMID:21655354

DNA:SNP: :rs2664538 (human)
DNA:SNP:promoter:-1562C>T (human)
DNA:SNP: :c.836A>G (rs17576) (human)
DNA:SNPs: :rs17576, rs3918249 (human)

RGD

RGD:8547816, RGD:8549724, RGD:8549724, RGD:8547830

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

Mthfr

methylenetetrahydrofolate reductase

susceptibility

DNA:SNPs: :677C>T,1298A>C(human)

RGD

PMID:19936026

RGD:7387250

NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797

Muc5ac

mucin 5AC, oligomeric mucus/gel-forming

associated with Cataract;protein:decreased expression:tear

RGD

PMID:21139981

RGD:7364742

NCBI chr 1:196,864,375...196,896,475
Ensembl chr 1:196,864,336...196,896,475

Nos3

nitric oxide synthase 3

susceptibility

PMID:20069064 PMID:23422825

DNA:duplication:intron:IVS4?-?+27 (human)
DNA:snps:introns:g.IVS5+1182G>A, g.IVS25+11C>A (rs3793342, rs7830) (human)

RGD

RGD:7771573, RGD:7775046

NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166

Plekha7

pleckstrin homology domain containing A7

CTD Direct Evidence: marker/mechanism

PMID:22922875 PMID:27064256

NCBI chr 1:170,364,524...170,547,843
Ensembl chr 1:170,365,135...170,547,775

Prss56

serine protease 56

CTD Direct Evidence: marker/mechanism

PMID:21532570

NCBI chr 9:87,842,806...87,859,978
Ensembl chr 9:87,854,805...87,859,978

Sh3pxd2b

SH3 and PX domains 2B

CTD Direct Evidence: marker/mechanism

PMID:28719234

NCBI chr10:16,918,611...17,027,499
Ensembl chr10:16,918,679...17,005,170

Slc19a1

solute carrier family 19 member 1

ClinVar Annotator: match by term: Glaucoma, primary closed-angle

PMID:12415512 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 More...

NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972

Tfap2b

transcription factor AP-2 beta

NCBI chr 9:21,786,250...21,815,785
Ensembl chr 9:21,786,258...21,814,520

anterior segment dysgenesis 3

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Foxc1

forkhead box C1

ClinVar Annotator: match by term: Anterior segment dysgenesis 3

PMID:9620769 PMID:9792859 PMID:11007653 PMID:11170889 PMID:12036988 More...

NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803

anterior segment dysgenesis 4

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Pitx2

paired-like homeodomain 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 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293

buphthalmos

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Cyp1b1

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
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
RGD

PMID:9097971 PMID:9463332 PMID:9497261 PMID:10227395 PMID:10426814 More...

RGD:7800719, RGD:7800711, RGD:7800707, RGD:7800689, RGD:7800688, RGD:7800680, RGD:7800670, RGD:7800657, RGD:734869

NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917

Foxc1

forkhead box C1

OMIM:231300

NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803

Ltbp2

latent transforming growth factor beta binding protein 2

ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A

PMID:19656777

NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208

Myoc

myocilin

ClinVar Annotator: match by term: Glaucoma 3, primary congenital, a, digenic

PMID:12447164 PMID:15025728 PMID:15723004 PMID:15733270 PMID:16288197 More...

NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127

Tyr

tyrosinase

OMIM:231300

NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207

Charcot-Marie-Tooth disease type 4B2

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Sbf2

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

PMID:9521281 PMID:10932274 PMID:12554688 PMID:12687498 PMID:15304601 More...

NCBI chr 1:164,352,892...164,719,883
Ensembl chr 1:164,353,444...164,719,807

Diastolic Hypertension, Resistance to

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Kcnip1

potassium voltage-gated channel interacting protein 1

ClinVar Annotator: match by term: Hypertension, diastolic, resistance to

PMID:15057310 PMID:16155733

NCBI chr10:18,219,519...18,588,833
Ensembl chr10:18,219,519...18,589,045

Kcnmb1

potassium calcium-activated channel subfamily M regulatory beta subunit 1

ClinVar Annotator: match by term: Hypertension, diastolic, resistance to

PMID:15057310 PMID:16155733

NCBI chr10:18,557,510...18,614,824
Ensembl chr10:18,557,904...18,565,798

eclampsia

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Il6

interleukin 6

treatment

RGD

PMID:27106269

RGD:11062145

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

essential hypertension

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Acsm3

acyl-CoA synthetase medium-chain family member 3

no_association

RGD

PMID:11592044

RGD:1579978

NCBI chr 1:174,133,260...174,159,966
Ensembl chr 1:174,133,288...174,160,184

Add1

adducin 1

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

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

NCBI chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182

Agt

angiotensinogen

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

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

NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977

Agtr1a

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

OMIM
ClinVar
RGD

PMID:8021009 PMID:9084931 PMID:15042429 PMID:25741868 PMID:28492532 More...

RGD:10047396

NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946

Aif1

allograft inflammatory factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668

Atp1b1

ATPase Na+/K+ transporting subunit beta 1

OMIM

NCBI chr13:76,786,580...76,807,096
Ensembl chr13:76,786,578...76,807,459

Atp2a2

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2

susceptibility

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

RGD

PMID:20687374

RGD:13507310

NCBI chr12:34,072,710...34,122,142
Ensembl chr12:34,072,683...34,122,101

Atp5pf

ATP synthase peripheral stalk subunit F6

protein:increased expression:plasma (human)

RGD

PMID:14654753

RGD:13800915

NCBI chr11:23,881,594...23,889,581
Ensembl chr11:23,881,592...23,889,119

Caly

calcyon neuron-specific vesicular protein

CTD Direct Evidence: marker/mechanism

PMID:30753204

NCBI chr 1:194,862,671...194,873,861
Ensembl chr 1:194,862,672...194,873,551

catalase

RGD

NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478

Cdca3

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 4:157,634,775...157,638,799
Ensembl chr 4:157,634,928...157,638,799

Cyba

cytochrome b-245 alpha chain

CTD Direct Evidence: marker/mechanism

NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721

Cybb

cytochrome b-245 beta chain

CTD Direct Evidence: marker/mechanism

NCBI chr X:13,360,583...13,392,517
Ensembl chr X:13,359,430...13,392,586

Cyp3a9

cytochrome P450, family 3, subfamily a, polypeptide 9

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

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

NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422

Ece1

endothelin converting enzyme 1

OMIM

NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371

Eln

elastin

NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928

Ffar2

free fatty acid receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:86,071,860...86,075,049
Ensembl chr 1:86,072,184...86,075,033

Ffar3

free fatty acid receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:86,105,388...86,106,728
Ensembl chr 1:86,104,920...86,106,849

Gata5

GATA binding protein 5

ISS
ISO

MouseDO
RGD

PMID:26617239

RGD:11343485

NCBI chr 3:167,418,563...167,426,751
Ensembl chr 3:167,418,565...167,426,751

Gnb3

G protein subunit beta 3

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

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

NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173

Grk4

G protein-coupled receptor kinase 4

susceptibility

PMID:15097232 PMID:15097232

DNA:SNP,haplotypes:cds:

RGD

RGD:1598505, RGD:1598505

NCBI chr14:75,998,554...76,080,808
Ensembl chr14:76,006,218...76,080,693

Havcr1

hepatitis A virus cellular receptor 1

protein:increased expression:urine:

RGD

PMID:22923545

RGD:7245500

NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698

Hmgb1

high mobility group box 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:5,973,062...5,978,565
Ensembl chr12:5,901,586...5,978,565

Il1b

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

Lcn2

lipocalin 2

protein:increased expression:urine:

RGD

PMID:22923545

RGD:7245500

NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095

Ncf1

neutrophil cytosolic factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646

Nos3

nitric oxide synthase 3

PMID:25741868 PMID:9084930 PMID:11394896

DNA:repeats:intron:IVS13+?-?dupCA (human)
ClinVar Annotator: match by term: Essential hypertension
DNA:snp:cds:p.E298D (human)

ClinVar
OMIM
RGD

RGD:1580277, RGD:1580280

NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166

Nppb

natriuretic peptide B

protein:increased expression:plasma:

RGD

PMID:9350073

RGD:7246914

NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168

Npr2

natriuretic peptide receptor 2

DNA:repeat:intron:IVS2+150(GT)10-11 (human)

RGD

PMID:10082481

RGD:1580772

NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580

Ocln

occludin

CTD Direct Evidence: marker/mechanism

NCBI chr 2:31,657,217...31,707,466
Ensembl chr 2:31,657,220...31,764,150

Ptgis

prostaglandin I2 synthase

ClinVar Annotator: match by term: Essential hypertension

PMID:12372404 PMID:25741868

NCBI chr 3:155,928,564...155,964,228
Ensembl chr 3:155,916,412...155,965,451

Rarres2

retinoic acid receptor responder 2

protein:increased expression:serum:

RGD

PMID:24047472

RGD:15036820

NCBI chr 4:77,522,549...77,525,733
Ensembl chr 4:77,522,535...77,525,556

renin

RGD

NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489

Rgs5

regulator of G-protein signaling 5

OMIM

NCBI chr13:81,848,254...81,885,053
Ensembl chr13:81,836,304...81,885,518

Rnls

renalase, FAD-dependent amine oxidase

DNA:SNPs: :rs2576178, rs2296545,rs2114406 (human)

RGD

PMID:17216203

RGD:7327177

NCBI chr 1:231,037,481...231,309,855
Ensembl chr 1:231,037,486...231,309,823

Slc12a3

solute carrier family 12 member 3

severity

PMID:15480096 PMID:15824464

DNA:missense mutation:cds:p.R904Q (human)
DNA:snp:intron:g.1784C>T (human)

RGD

RGD:1580589, RGD:1580586

NCBI chr19:10,630,649...10,679,250
Ensembl chr19:10,631,393...10,669,091

tyrosine hydroxylase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767

Tjp1

tight junction protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:118,849,838...119,094,492
Ensembl chr 1:118,849,838...119,094,432

Tlr2

toll-like receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630

Tlr4

toll-like receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628

Tnf

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

Umod

uromodulin

ClinVar Annotator: match by term: Essential hypertension

NCBI chr 1:173,816,341...173,829,681
Ensembl chr 1:173,816,339...173,830,302

Zscan25

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 chr12:9,327,347...9,338,206
Ensembl chr12:9,326,404...9,338,221

exfoliation syndrome

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Agpat1

1-acylglycerol-3-phosphate O-acyltransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:4,135,955...4,144,880
Ensembl chr20:4,135,957...4,145,278

Apoe

apolipoprotein E

susceptibility

DNA:polymorphism:exon:

RGD

PMID:15939044

RGD:7771555

NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932

Cacna1a

calcium voltage-gated channel subunit alpha1 A

CTD Direct Evidence: marker/mechanism

PMID:25706626

NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225

Cav1

caveolin 1

no_association

DNA:SNP:promoter:rs4236601 (human)

RGD

PMID:20835238

RGD:8661783

NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705

Clu

clusterin

no_association

PMID:18806885 PMID:25057782 PMID:19182256 PMID:19182256 PMID:16639006

DNA:SNPs, haplotype: :multiple
DNA:SNP:intron:rs2279590 (human)

RGD

RGD:8699505, RGD:9068391, RGD:8887372, RGD:8887372, RGD:8699516

NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315

Edn1

endothelin 1

associated with Cataract;protein:increased expression:aqueous humor (human)

RGD

PMID:15031170

RGD:8661674

NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885

elastin

RGD

NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928

Gstm1

glutathione S-transferase mu 1

susceptibility
no_association

PMID:18334963 PMID:16020292

DNA:deletion, haplotype:cds (human)
DNA:deletion:cds (human)

RGD

RGD:7488955, RGD:7495792

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

Gstt1

glutathione S-transferase theta 1

susceptibility
no_association

PMID:21151336 PMID:18055805 PMID:16020292

DNA:deletion:cds (human)
mRNA:decreased expression:ciliary processes, iris (human)

RGD

RGD:7794822, RGD:7794853, RGD:7495792

NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585

Loxl1

lysyl oxidase-like 1

susceptibility
no_association

DNA:SNP: :p.R141L (rs1048661) (human)
ClinVar Annotator: match by term: Exfoliation syndrome, susceptibility to
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
OMIM
CTD
RGD

PMID:17690259 PMID:18037624 PMID:19343041 PMID:25706626 PMID:28553957 More...

RGD:7387325, RGD:7394726, RGD:7387333, RGD:7387332, RGD:7387331, RGD:7387329, RGD:7387328, RGD:7387327, RGD:7387326

NCBI chr 8:58,692,592...58,716,356
Ensembl chr 8:58,692,593...58,716,356

Ltbp2

latent transforming growth factor beta binding protein 2

ClinVar Annotator: match by term: Pseudoexfoliation glaucoma

PMID:23401661 PMID:28492532

NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208

Lyst

lysosomal trafficking regulator

OMIM:177650

NCBI chr17:86,241,384...86,443,501
Ensembl chr17:86,241,384...86,443,480

Mmp1

matrix metallopeptidase 1

no_association

DNA:insertion:promoter:g.-1607insG rs1799750 (human)

RGD

PMID:20808730

RGD:8549725

NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097

Mmp9

matrix metallopeptidase 9

no_association

DNA:insertion: :p.Q279R (rs17576) (human)

RGD

PMID:20808730

RGD:8549725

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

Optn

optineurin

no_association

DNA:polymorphism: :p.M98K (human)

RGD

PMID:16020311

RGD:6480509

NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251

Pomp

proteasome maturation protein

CTD Direct Evidence: marker/mechanism

NCBI chr12:7,162,098...7,174,737
Ensembl chr12:7,160,714...7,174,715

Pon1

paraoxonase 1

protein:decreased expression:serum (human)

RGD

PMID:19628957

RGD:8547685

NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360

Rbms3

RNA binding motif, single stranded interacting protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr 8:116,308,360...117,625,730
Ensembl chr 8:116,309,882...117,625,423

Sod2

superoxide dismutase 2

PMID:23805041 PMID:18055805

associated with cataract;mRNA:increased expression:lens epithelium:
associated with glaucoma,primary open angle; mRNA:increased expression: ciliary body, iris:

RGD

RGD:8158048, RGD:7794853

NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189

Stra6

signaling receptor and transporter of retinol STRA6

mRNA:decreased expression:iris, retina (human)

RGD

PMID:30986821

RGD:155631292

NCBI chr 8:58,549,743...58,568,861
Ensembl chr 8:58,549,736...58,568,860

Tlcd5

TLC domain containing 5

CTD Direct Evidence: marker/mechanism

NCBI chr 8:43,481,388...43,486,288
Ensembl chr 8:43,479,016...43,486,290

Tlr4

toll-like receptor 4

susceptibility

DNA:haplotype::

RGD

PMID:22831837

RGD:7794768

NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628

glaucoma

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Ace2

angiotensin I converting enzyme 2

treatment

RGD

PMID:23702784

RGD:9685447

NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977

Anxa3

annexin A3

mRNA:increased expression:retina

RGD

PMID:18055803

RGD:2289160

NCBI chr14:12,727,708...12,781,717
Ensembl chr14:12,719,795...12,781,617

Apoa4

apolipoprotein A4

Primary Congenital Glaucoma; protein:increased expression:aqueous humor (human)

RGD

PMID:21078314

RGD:5685641

NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469

apolipoprotein E

GAD

NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932

Atf2

activating transcription factor 2

RGD

PMID:17586494

RGD:10047416

NCBI chr 3:58,718,323...58,795,280
Ensembl chr 3:58,718,332...58,795,236

Bad

BCL2-associated agonist of cell death

protein:decreased serine phosphorylation:retina

RGD

PMID:16103353

RGD:2292690

NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823

Bax

BCL2 associated X, apoptosis regulator

mRNA:increased expression:optic nerve, retina

RGD

PMID:24357921

RGD:10054098

NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368

Bcl2

BCL2, apoptosis regulator

PMID:19422885 PMID:21498611 PMID:10711692

mRNA:decreased expression:optic nerve, retina

RGD

PMID:24357921

RGD:10054098

NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743

Bdnf

brain-derived neurotrophic factor

treatment

ISO
IDA
IEP

protein:decreased expression:eye:

RGD

RGD:8655601, RGD:8655886, RGD:8655608

NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615

Becn1

beclin 1

protein:increased expression:eye

RGD

PMID:22476098

RGD:6483048

NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742

Bex3

brain expressed X-linked 3

mRNA:decreased expression:retina

RGD

PMID:19682984

RGD:9743977

NCBI chr X:99,273,238...99,274,799
Ensembl chr X:99,273,161...99,274,800

Ccnd2

cyclin D2

mRNA:increased expression:retina

RGD

PMID:18055803

RGD:2289160

NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495

Ccr5

C-C motif chemokine receptor 5

RGD

PMID:16159632

RGD:8549757

NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260

Cdkn1b

cyclin-dependent kinase inhibitor 1B

mRNA, protein:decreased expression:retina, Muller cell

RGD

PMID:16707124

RGD:2293623

NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982

Cdkn2a

cyclin-dependent kinase inhibitor 2A

CTD Direct Evidence: marker/mechanism

PMID:21532571

NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149

Cdkn2b

cyclin-dependent kinase inhibitor 2B

CTD Direct Evidence: marker/mechanism

PMID:21532571

NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050

Cfh

complement factor H

protein:decreased expression:retina:

RGD

PMID:20484586

RGD:7364950

NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838

Cntf

ciliary neurotrophic factor

PMID:14725620 PMID:19060281

RGD

RGD:1626115, RGD:8655853

NCBI chr 1:209,887,854...209,889,877
Ensembl chr 1:209,887,854...209,889,877

Crebbp

CREB binding protein

ClinVar Annotator: match by term: Glaucoma

PMID:25741868

NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888

Cx3cr1

C-X3-C motif chemokine receptor 1

RGD

PMID:24989686

RGD:9384823

NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014

Eef2

eukaryotic translation elongation factor 2

associated with Exfoliation Syndrome;

RGD

PMID:20107165

RGD:10401222

NCBI chr 7:8,533,248...8,538,518
Ensembl chr 7:8,533,116...8,559,183

Epo

erythropoietin

PMID:19741249 PMID:17554621 PMID:17554621

protein:increased expression:retina:

RGD

RGD:10401071, RGD:11041649, RGD:11041649

NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946

Epor

erythropoietin receptor

protein:increased expression:retina:

RGD

PMID:17554621

RGD:11041649

NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257

Fas

Fas cell surface death receptor

protein:increased expression:optic nerve head, axon (human)

RGD

PMID:19043361

RGD:8662440

NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

Foxc1

forkhead box C1

associated with Axenfeld-Rieger Syndrome;DNA:mutation:cds:p.Q120X(human)

RGD

PMID:18498376

RGD:12904045

NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803

Foxd3

forkhead box D3

mRNA:increased expression:optic nerve head (human)

RGD

PMID:28990066

RGD:155630605

NCBI chr 5:114,334,693...114,337,788
Ensembl chr 5:114,335,408...114,336,817

Gem

GTP binding protein overexpressed in skeletal muscle

mRNA:decreased expression:optic nerve head (rat)

RGD

PMID:28990066

RGD:155630605

NCBI chr 5:25,214,309...25,225,222
Ensembl chr 5:25,214,309...25,225,222

Hdac1

histone deacetylase 1

PMID:28990066 PMID:28990066

mRNA:increased expression:optic nerve head (human)
mRNA:increased expression:optic nerve head (rat)

RGD

RGD:155630605, RGD:155630605

NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111

Heph

hephaestin