abnormal vascular development - Ontology Report

activin A receptor, type II-like 1

PMID:12970115

NCBI chr15:101,026,403...101,043,217
Ensembl chr15:101,026,403...101,043,217

Aggf1

angiogenic factor with G patch and FHA domains 1

PMID:27522498

NCBI chr13:95,487,191...95,511,865
Ensembl chr13:95,487,191...95,511,860

Ahdc1

AT hook, DNA binding motif, containing 1

PMID:35585237

NCBI chr 4:132,738,797...132,805,421
Ensembl chr 4:132,738,571...132,805,421

Aldh1a2

aldehyde dehydrogenase family 1, subfamily A2

PMID:21305688

NCBI chr 9:71,123,071...71,203,525
Ensembl chr 9:71,123,071...71,203,525

Angpt1

angiopoietin 1

PMID:8980224 PMID:21606590

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

Ankrd17

ankyrin repeat domain 17

PMID:19619540

NCBI chr 5:90,375,025...90,517,133
Ensembl chr 5:90,375,025...90,514,436

annexin A2

NCBI chr 9:69,360,978...69,399,074
Ensembl chr 9:69,360,902...69,399,077

apelin receptor early endogenous ligand

NCBI chr 8:65,481,069...65,489,970
Ensembl chr 8:65,481,069...65,489,988

Arhgap31

Rho GTPase activating protein 31

PMID:27270835

NCBI chr16:38,418,705...38,533,397
Ensembl chr16:38,418,702...38,533,636

Arhgef11

Rho guanine nucleotide exchange factor 11

PMID:23467409

NCBI chr 3:87,524,855...87,645,346
Ensembl chr 3:87,524,866...87,645,341

Arhgef12

Rho guanine nucleotide exchange factor 12

PMID:23467409

NCBI chr 9:42,875,138...43,017,069
Ensembl chr 9:42,875,138...43,018,534

AT-rich interaction domain 1A

PMID:23129809

NCBI chr 4:133,406,319...133,484,682
Ensembl chr 4:133,406,319...133,484,080

Atp2a2

ATPase, Ca++ transporting, cardiac muscle, slow twitch 2

PMID:24920669

NCBI chr 5:122,591,576...122,640,288
Ensembl chr 5:122,591,576...122,640,288

Bcas3

BCAS3 microtubule associated cell migration factor

PMID:29618843

NCBI chr11:85,243,611...85,716,884
Ensembl chr11:85,243,993...85,716,884

Bmp10

bone morphogenetic protein 10

PMID:23812757

NCBI chr 6:87,405,976...87,411,494
Ensembl chr 6:87,405,976...87,414,659

Bmp2

bone morphogenetic protein 2

PMID:23843612

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

Bmpr1a

bone morphogenetic protein receptor, type 1A

PMID:16887829

NCBI chr14:34,133,018...34,225,335
Ensembl chr14:34,132,691...34,225,298

calpain 2

NCBI chr 1:182,294,818...182,345,175
Ensembl chr 1:182,294,825...182,345,173

Ccdc134

coiled-coil domain containing 134

PMID:29115376

NCBI chr15:82,012,101...82,026,404
Ensembl chr15:82,012,123...82,026,404

cadherin 5

NCBI chr 8:104,828,247...104,871,136
Ensembl chr 8:104,828,257...104,871,143

Crebbp

CREB binding protein

PMID:9949198 PMID:10216070

NCBI chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861

cullin 7

NCBI chr17:46,961,264...46,975,290
Ensembl chr17:46,961,263...46,975,290

Disp1

dispatched RND transporter family member 1

PMID:15576405

NCBI chr 1:182,867,828...183,010,257
Ensembl chr 1:182,867,830...183,003,086

delta like canonical Notch ligand 4

PMID:15466159 PMID:15520367

NCBI chr 2:119,156,286...119,166,145
Ensembl chr 2:119,156,265...119,166,443

Dmp1

dentin matrix protein 1

PMID:21542006

NCBI chr 5:104,345,441...104,361,968
Ensembl chr 5:104,350,479...104,361,968

E2f1

E2F transcription factor 1

PMID:25759071

NCBI chr 2:154,401,320...154,411,812
Ensembl chr 2:154,401,327...154,411,812

Edil3

EGF-like repeats and discoidin I-like domains 3

PMID:24043815

NCBI chr13:88,969,591...89,471,344
Ensembl chr13:88,969,591...89,471,342

ephrin B2

PMID:11880349 PMID:15466160

NCBI chr 8:8,667,235...8,711,242
Ensembl chr 8:8,667,434...8,711,242

EGF-like domain 7

NCBI chr 2:26,471,095...26,482,694
Ensembl chr 2:26,470,026...26,483,132

Elp1

elongator complex protein 1

PMID:19015235

NCBI chr 4:56,746,547...56,802,565
Ensembl chr 4:56,749,680...56,802,331

endoglin

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

Eph receptor A2

NCBI chr 4:141,028,532...141,056,695
Ensembl chr 4:141,028,551...141,056,695

Eps15

epidermal growth factor receptor pathway substrate 15

PMID:30692166

NCBI chr 4:109,137,372...109,245,014
Ensembl chr 4:109,137,465...109,245,014

Eps15l1

epidermal growth factor receptor pathway substrate 15-like 1

PMID:30692166

NCBI chr 8:73,094,834...73,175,410
Ensembl chr 8:73,094,839...73,175,304

Erg

ETS transcription factor

PMID:22932696

NCBI chr16:95,160,028...95,387,452
Ensembl chr16:95,160,028...95,387,452

ets variant 2

NCBI chr 7:30,333,041...30,335,934
Ensembl chr 7:30,333,041...30,335,277

Fbxw7

F-box and WD-40 domain protein 7

PMID:14672936 PMID:17984302

NCBI chr 3:84,721,901...84,886,505
Ensembl chr 3:84,722,575...84,886,505

Fgfr1

fibroblast growth factor receptor 1

PMID:18832392

NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734

Fgfr2

fibroblast growth factor receptor 2

PMID:18832392

NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079

Fgfrl1

fibroblast growth factor receptor-like 1

PMID:19383940

NCBI chr 5:108,842,051...108,854,816
Ensembl chr 5:108,840,248...108,854,790

Fli1

Friend leukemia integration 1

PMID:10981960

NCBI chr 9:32,333,500...32,454,292
Ensembl chr 9:32,333,500...32,454,157

FMS-like tyrosine kinase 1

PMID:7596436 PMID:15601855

NCBI chr 5:147,498,414...147,663,419
Ensembl chr 5:147,498,414...147,662,821

FMS-like tyrosine kinase 4

NCBI chr11:49,500,506...49,543,566
Ensembl chr11:49,500,090...49,543,566

Flvcr1

feline leukemia virus subgroup C cellular receptor 1

PMID:23187127

NCBI chr 1:190,738,029...190,758,387
Ensembl chr 1:190,738,044...190,758,355

Flvcr2

feline leukemia virus subgroup C cellular receptor 2

PMID:32369453

NCBI chr12:85,793,313...85,860,359
Ensembl chr12:85,793,313...85,860,359

fibronectin 1

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

forkhead box A2

NCBI chr 2:147,884,797...147,888,889
Ensembl chr 2:147,884,797...147,888,889

forkhead box C1

NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459

forkhead box C2

NCBI chr 8:121,842,910...121,845,634
Ensembl chr 8:121,842,910...121,845,634

Fzd4

frizzled class receptor 4

PMID:16093361

NCBI chr 7:89,053,574...89,062,341
Ensembl chr 7:89,053,563...89,062,342

gene trap ROSA 26, Philippe Soriano

PMID:21505259 PMID:26774483 PMID:35477278

NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,055,336

Hacd2

3-hydroxyacyl-CoA dehydratase 2

PMID:36693621

NCBI chr16:34,842,791...34,929,560
Ensembl chr16:34,842,798...34,929,547

hypoxia inducible factor 1, alpha subunit

PMID:9436976

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

Il11ra1

interleukin 11 receptor subunit alpha 1

PMID:15499555

NCBI chr 4:41,760,443...41,769,473
Ensembl chr 4:41,699,989...41,769,474

Jag1

jagged 1

PMID:10196361 PMID:20720151

NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564

Kank4

KN motif and ankyrin repeat domains 4

PMID:35477278

NCBI chr 4:98,643,129...98,706,295
Ensembl chr 4:98,643,135...98,705,774

Kat6a

K(lysine) acetyltransferase 6A

PMID:24646517

NCBI chr 8:23,349,458...23,433,275
Ensembl chr 8:23,349,551...23,433,275

kinase insert domain protein receptor

PMID:16887829 PMID:20065093 PMID:21606590

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

KRIT1, ankyrin repeat containing

PMID:24990152

NCBI chr 5:3,853,156...3,894,515
Ensembl chr 5:3,853,184...3,895,564

LIM domain binding 1

NCBI chr19:46,019,963...46,036,584
Ensembl chr19:46,020,009...46,033,653

Lemd3

LEM domain containing 3

PMID:16943282

NCBI chr10:120,759,316...120,815,491
Ensembl chr10:120,759,318...120,815,237

leptin receptor

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

Map3k3

mitogen-activated protein kinase kinase kinase 3

PMID:10700190

NCBI chr11:105,975,358...106,047,482
Ensembl chr11:105,975,439...106,046,272

mitogen-activated protein kinase kinase kinase 7

PMID:16556914 PMID:22972987

NCBI chr 4:31,963,659...32,023,470
Ensembl chr 4:31,964,097...32,023,467

mitogen-activated protein kinase 7

PMID:12093914 PMID:12221099

NCBI chr11:61,379,638...61,385,101
Ensembl chr11:61,379,638...61,385,232

Med23

mediator complex subunit 23

PMID:19417216

NCBI chr10:24,745,889...24,789,358
Ensembl chr10:24,745,884...24,789,579

myocyte enhancer factor 2C

NCBI chr13:83,652,136...83,815,197
Ensembl chr13:83,652,153...83,815,199

Metap2

methionine aminopeptidase 2

PMID:16790550

NCBI chr10:93,694,351...93,732,952
Ensembl chr10:93,694,351...93,732,955

Mgat1

mannoside acetylglucosaminyltransferase 1

PMID:8187759

NCBI chr11:49,135,018...49,153,854
Ensembl chr11:49,135,018...49,153,857

Mpi

mannose phosphate isomerase

PMID:16339137

NCBI chr 9:57,448,744...57,460,095
Ensembl chr 9:57,451,539...57,460,046

Ncoa6

nuclear receptor coactivator 6

PMID:15143190

NCBI chr 2:155,232,585...155,315,741
Ensembl chr 2:155,232,576...155,315,814

Ndst1

N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1

PMID:24355925

NCBI chr18:60,817,566...60,907,465
Ensembl chr18:60,817,566...60,881,722

Notch1

notch 1

PMID:17229764 PMID:21305688

NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675

neuropilin 1

NCBI chr 8:129,085,553...129,231,957
Ensembl chr 8:129,085,085...129,229,844

neuropilin 2

NCBI chr 1:62,742,476...62,857,851
Ensembl chr 1:62,742,444...62,857,854

Nus1

NUS1 dehydrodolichyl diphosphate synthase subunit

PMID:26746789 PMID:26755743

NCBI chr10:52,293,643...52,316,288
Ensembl chr10:52,293,643...52,316,279

Pcnt

pericentrin (kendrin)

PMID:25220058

NCBI chr10:76,187,098...76,279,988
Ensembl chr10:76,187,097...76,278,620

Pfkfb3

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3

PMID:32492393

NCBI chr 2:11,476,241...11,558,882
Ensembl chr 2:11,476,244...11,558,888

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635

protein kinase N2

NCBI chr 3:142,496,663...142,587,765
Ensembl chr 3:142,496,663...142,587,765

Poglut1

protein O-glucosyltransferase 1

PMID:21490058

NCBI chr16:38,345,420...38,370,619
Ensembl chr16:38,345,499...38,370,620

presenilin 1

NCBI chr12:83,734,926...83,781,869
Ensembl chr12:83,734,926...83,781,973

patched 1

NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412

Pten

phosphatase and tensin homolog

PMID:23023706

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

PTK2 protein tyrosine kinase 2

PMID:12595342 PMID:20442405

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

Ptprj

protein tyrosine phosphatase receptor type J

PMID:12588999

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

Rapgef2

Rap guanine nucleotide exchange factor (GEF) 2

PMID:17826737 PMID:20595512

NCBI chr 3:78,969,818...79,194,681
Ensembl chr 3:78,969,823...79,193,824

Ras interacting protein 1

PMID:21396893

NCBI chr 7:45,276,961...45,288,516
Ensembl chr 7:45,276,912...45,288,517

recombination signal binding protein for immunoglobulin kappa J region

NCBI chr 5:53,713,121...53,814,787
Ensembl chr 5:53,623,494...53,814,704

Rhob

ras homolog family member B

PMID:14597666

NCBI chr12:8,547,661...8,550,009
Ensembl chr12:8,547,661...8,550,009

Robo4

roundabout guidance receptor 4

PMID:24355925

NCBI chr 9:37,313,198...37,325,319
Ensembl chr 9:37,313,193...37,326,411

Runx2

runt related transcription factor 2

PMID:11438701

NCBI chr17:44,806,873...45,125,518
Ensembl chr17:44,806,874...45,125,684

Samd1

sterile alpha motif domain containing 1

PMID:36810619

NCBI chr 8:84,724,145...84,727,044
Ensembl chr 8:84,724,130...84,727,038

Senp1

SUMO1/sentrin specific peptidase 1

PMID:20457756

NCBI chr15:97,936,625...97,991,625
Ensembl chr15:97,936,625...97,991,625

Setd5

SET domain containing 5

PMID:27864380

NCBI chr 6:113,054,326...113,130,393
Ensembl chr 6:113,054,326...113,130,396

schlafen 14

NCBI chr11:83,165,936...83,177,552
Ensembl chr11:83,165,936...83,177,552

SMAD family member 5

NCBI chr13:56,850,804...56,890,191
Ensembl chr13:56,850,823...56,890,190

Tab2

TGF-beta activated kinase 1/MAP3K7 binding protein 2

PMID:22972987

NCBI chr10:7,781,412...7,832,039
Ensembl chr10:7,781,417...7,831,994

T-box 20

NCBI chr 9:24,632,108...24,685,580
Ensembl chr 9:24,629,434...24,685,599

T-box 6

NCBI chr 7:126,380,655...126,384,720
Ensembl chr 7:126,380,655...126,384,732

TEK receptor tyrosine kinase

PMID:10498691

NCBI chr 4:94,627,322...94,763,213
Ensembl chr 4:94,627,526...94,763,213

Tie1

tyrosine kinase with immunoglobulin-like and EGF-like domains 1

PMID:10498691

NCBI chr 4:118,328,388...118,347,046
Ensembl chr 4:118,328,388...118,347,258

tropomodulin 1

NCBI chr 4:46,038,940...46,116,032
Ensembl chr 4:46,038,935...46,116,032

Tnfrsf1a

tumor necrosis factor receptor superfamily, member 1a

PMID:22972987

NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447

Trp53

transformation related protein 53

PMID:16790550

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

Tsc2

TSC complex subunit 2

PMID:19357198

NCBI chr17:24,814,788...24,851,607
Ensembl chr17:24,814,790...24,851,604

Twist2

twist basic helix-loop-helix transcription factor 2

PMID:23023706

NCBI chr 1:91,729,183...91,775,756
Ensembl chr 1:91,729,183...91,775,750

vascular endothelial growth factor A

PMID:8602241 PMID:25759071

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

Wdr83

WD repeat domain containing 83

PMID:19726548

NCBI chr 8:85,801,664...85,807,375
Ensembl chr 8:85,801,664...85,807,935

zinc finger, MIZ-type containing 1

NCBI chr14:25,458,299...25,667,167
Ensembl chr14:25,459,609...25,667,167

abnormal angiogenesis

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

activin A receptor, type II-like 1

PMID:10716993 PMID:11062473

NCBI chr15:101,026,403...101,043,217
Ensembl chr15:101,026,403...101,043,217

Adgra2

adhesion G protein-coupled receptor A2

PMID:21071672 PMID:21282641

NCBI chr 8:27,575,546...27,613,464
Ensembl chr 8:27,575,611...27,613,464

Ager

advanced glycosylation end product-specific receptor

PMID:16873687

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

angiomotin

NCBI chr X:144,229,420...144,288,145
Ensembl chr X:144,229,421...144,288,177

angiopoietin 2

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

annexin A2

NCBI chr 9:69,360,978...69,399,074
Ensembl chr 9:69,360,902...69,399,077

apelin receptor early endogenous ligand

NCBI chr 8:65,481,069...65,489,970
Ensembl chr 8:65,481,069...65,489,988

Arap3

ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3

PMID:20978237

NCBI chr18:38,105,676...38,132,583
Ensembl chr18:38,105,681...38,132,022

Arid2

AT-rich interaction domain 2

PMID:25299188

NCBI chr15:96,185,403...96,303,344
Ensembl chr15:96,185,399...96,302,873

Arnt

aryl hydrocarbon receptor nuclear translocator

PMID:9121557

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

Birc6

baculoviral IAP repeat-containing 6

PMID:15300255

NCBI chr17:74,835,247...75,010,351
Ensembl chr17:74,835,290...75,010,351

Bmp4

bone morphogenetic protein 4

PMID:16100039

NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126

C1galt1

core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1

PMID:17374637

NCBI chr 6:7,845,224...7,872,042
Ensembl chr 6:7,844,842...7,875,687

cerebral cavernous malformation 2

NCBI chr11:6,496,887...6,546,761
Ensembl chr11:6,496,887...6,546,744

Ccn2

cellular communication network factor 2

PMID:19131512

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

Cdc42ep1

CDC42 effector protein 1

PMID:24451259

NCBI chr15:78,726,847...78,735,102
Ensembl chr15:78,726,824...78,735,097

cadherin 5

NCBI chr 8:104,828,247...104,871,136
Ensembl chr 8:104,828,257...104,871,143

Cep20

centrosomal protein 20

PMID:33686659

NCBI chr16:14,117,105...14,136,093
Ensembl chr16:14,117,108...14,135,269

Clic4

chloride intracellular channel 4

PMID:19197003

NCBI chr 4:134,941,280...135,000,071
Ensembl chr 4:134,941,280...135,000,125

Cxcl12

C-X-C motif chemokine ligand 12

PMID:9634237

NCBI chr 6:117,145,496...117,158,329
Ensembl chr 6:117,145,496...117,158,328

Cxcr4

C-X-C motif chemokine receptor 4

PMID:9634237

NCBI chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030

Dicer1

dicer 1, ribonuclease type III

PMID:15613470 PMID:17613256

NCBI chr12:104,654,001...104,718,331
Ensembl chr12:104,654,001...104,718,211

delta like canonical Notch ligand 4

PMID:23918385

NCBI chr 2:119,156,286...119,166,145
Ensembl chr 2:119,156,265...119,166,443

Edil3

EGF-like repeats and discoidin I-like domains 3

PMID:19837032

NCBI chr13:88,969,591...89,471,344
Ensembl chr13:88,969,591...89,471,342

ephrin B2

PMID:9630219 PMID:11163240 PMID:11880349 PMID:15223333 PMID:19571816

NCBI chr 8:8,667,235...8,711,242
Ensembl chr 8:8,667,434...8,711,242

Eogt

EGF domain specific O-linked N-acetylglucosamine transferase

PMID:28395734

NCBI chr 6:97,086,977...97,128,445
Ensembl chr 6:97,086,985...97,126,143

Epas1

endothelial PAS domain protein 1

PMID:10880563 PMID:12053176

NCBI chr17:87,061,292...87,140,838
Ensembl chr17:87,061,128...87,140,838

Eph receptor A2

NCBI chr 4:141,028,532...141,056,695
Ensembl chr 4:141,028,551...141,056,695

Eph receptor B4

NCBI chr 5:137,348,371...137,372,784
Ensembl chr 5:137,348,371...137,376,931

ets variant 2

NCBI chr 7:30,333,041...30,335,934
Ensembl chr 7:30,333,041...30,335,277

filamin, alpha

NCBI chr X:73,267,067...73,293,787
Ensembl chr X:73,267,067...73,293,426

filamin, beta

NCBI chr14:14,518,185...14,651,852
Ensembl chr14:14,518,185...14,651,816

folate hydrolase 1

NCBI chr 7:86,365,733...86,425,171
Ensembl chr 7:86,368,185...86,425,151

Fzd4

frizzled class receptor 4

PMID:19837032

NCBI chr 7:89,053,574...89,062,341
Ensembl chr 7:89,053,563...89,062,342

Gna13

guanine nucleotide binding protein, alpha 13

PMID:8999798

NCBI chr11:109,253,620...109,292,195
Ensembl chr11:109,253,657...109,292,195

Gpr4

G protein-coupled receptor 4

PMID:17145776

NCBI chr 7:18,946,463...18,958,101
Ensembl chr 7:18,946,463...18,958,099

gene trap ROSA 26, Philippe Soriano

NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,055,336

H2A.Z histone variant 2

PMID:18188448

NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443

hypoxia inducible factor 1, alpha subunit

PMID:11691837 PMID:14659802

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

integrin beta 8

NCBI chr12:119,121,757...119,202,891
Ensembl chr12:119,121,757...119,202,537

jagged 1

NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564

potassium channel tetramerisation domain containing 10

NCBI chr 5:114,501,633...114,518,566
Ensembl chr 5:114,501,628...114,518,569

kinase insert domain protein receptor

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

Klf15

Kruppel-like transcription factor 15

PMID:20375365

NCBI chr 6:90,437,785...90,468,785
Ensembl chr 6:90,439,558...90,452,220

Lrp5

low density lipoprotein receptor-related protein 5

PMID:19837032

NCBI chr19:3,634,825...3,736,574
Ensembl chr19:3,634,828...3,736,564

Maml1

mastermind like transcriptional coactivator 1

PMID:22069191

NCBI chr11:50,146,461...50,183,163
Ensembl chr11:50,146,461...50,183,138

Maml3

mastermind like transcriptional coactivator 3

PMID:22069191

NCBI chr 3:51,595,032...52,012,740
Ensembl chr 3:51,593,328...52,012,497

Map2k1

mitogen-activated protein kinase kinase 1

PMID:10209122

NCBI chr 9:64,093,066...64,160,887
Ensembl chr 9:64,093,052...64,160,913

Mapk14

mitogen-activated protein kinase 14

PMID:10973481

NCBI chr17:28,910,316...28,967,379
Ensembl chr17:28,910,303...28,967,380

mitogen-activated protein kinase 7

PMID:14675480

NCBI chr11:61,379,638...61,385,101
Ensembl chr11:61,379,638...61,385,232

Meis homeobox 1

NCBI chr11:18,830,428...18,968,992
Ensembl chr11:18,829,817...18,968,985

Mib1

MIB E3 ubiquitin protein ligase 1

PMID:16000382

NCBI chr18:10,725,523...10,822,969
Ensembl chr18:10,725,548...10,818,704

Mmp2

matrix metallopeptidase 2

PMID:14551157

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

Mmp9

matrix metallopeptidase 9

PMID:14551157 PMID:14670843

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

Mpi

mannose phosphate isomerase

PMID:16339137

NCBI chr 9:57,448,744...57,460,095
Ensembl chr 9:57,451,539...57,460,046

Mycn

v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived

PMID:9635194

NCBI chr12:12,986,094...12,991,837
Ensembl chr12:12,986,094...12,991,915

myocardin

NCBI chr11:65,064,434...65,160,821
Ensembl chr11:65,067,387...65,160,815

Ncf1

neutrophil cytosolic factor 1

PMID:18779779

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

neurofibromin 1

NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438

Nfatc1

nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 1

NCBI chr18:80,649,418...80,756,286
Ensembl chr18:80,649,420...80,756,286

Nos1

nitric oxide synthase 1, neuronal

PMID:11920687

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

Nos2

nitric oxide synthase 2, inducible

PMID:11920687

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

Nos3

nitric oxide synthase 3, endothelial cell

PMID:11920687 PMID:15016731

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

notch 1

NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675

Ovol2

ovo like zinc finger 2

PMID:17573777

NCBI chr 2:144,147,095...144,174,000
Ensembl chr 2:144,147,095...144,174,066

programmed cell death 10

NCBI chr 3:75,423,797...75,464,159
Ensembl chr 3:75,423,797...75,464,163

Pdgfrb

platelet derived growth factor receptor, beta polypeptide

PMID:16690964

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

Pfkm

phosphofructokinase, muscle

PMID:19696889

NCBI chr15:97,990,470...98,030,328
Ensembl chr15:97,990,470...98,030,332

Pgf

placental growth factor

PMID:11329059

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

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635

Plekhg5

pleckstrin homology domain containing, family G (with RhoGef domain) member 5

PMID:18757825

NCBI chr 4:152,156,890...152,199,855
Ensembl chr 4:152,156,955...152,199,857

Ppp3r1

protein phosphatase 3, regulatory subunit B, alpha isoform (calcineurin B, type I)

PMID:11439183 PMID:15030770

NCBI chr11:17,109,298...17,150,380
Ensembl chr11:17,109,263...17,150,375

Prdm6

PR domain containing 6

PMID:24278461

NCBI chr18:53,597,027...53,708,976
Ensembl chr18:53,596,655...53,708,979

presenilin 1

NCBI chr12:83,734,926...83,781,869
Ensembl chr12:83,734,926...83,781,973

parathyroid hormone

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

Pthlh

parathyroid hormone-like peptide

PMID:11994406

NCBI chr 6:147,153,607...147,165,511
Ensembl chr 6:147,153,599...147,165,681

Qki

quaking, KH domain containing RNA binding

PMID:16470614

NCBI chr17:10,425,480...10,538,706
Ensembl chr17:10,421,530...10,538,783

Reck

reversion-inducing-cysteine-rich protein with kazal motifs

PMID:11747814

NCBI chr 4:43,875,521...43,944,806
Ensembl chr 4:43,875,530...43,944,806

Rnf7

ring finger protein 7

PMID:22118770

NCBI chr 9:96,352,990...96,360,728
Ensembl chr 9:96,352,990...96,360,728

Robo4

roundabout guidance receptor 4

PMID:18345009

NCBI chr 9:37,313,198...37,325,319
Ensembl chr 9:37,313,193...37,326,411

R-spondin 3

NCBI chr10:29,329,102...29,411,863
Ensembl chr10:29,328,412...29,411,863

Runx1

runt related transcription factor 1

PMID:10943840

NCBI chr16:92,398,354...92,622,962
Ensembl chr16:92,398,354...92,623,037

S1pr1

sphingosine-1-phosphate receptor 1

PMID:15138255

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

S1pr2

sphingosine-1-phosphate receptor 2

PMID:15138255

NCBI chr 9:20,877,248...20,888,089
Ensembl chr 9:20,873,657...20,888,077

S1pr3

sphingosine-1-phosphate receptor 3

PMID:15138255

NCBI chr13:51,562,654...51,576,833
Ensembl chr13:51,562,675...51,576,833

Serpinf1

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

PMID:18602915

NCBI chr11:75,300,855...75,313,449
Ensembl chr11:75,300,595...75,313,527

Sharpin

SHANK-associated RH domain interacting protein

PMID:8362989

NCBI chr15:76,231,240...76,235,310
Ensembl chr15:76,231,240...76,235,311

Snai1

snail family zinc finger 1

PMID:24894949

NCBI chr 2:167,380,115...167,384,734
Ensembl chr 2:167,380,115...167,384,734

Sox9

SRY (sex determining region Y)-box 9

PMID:19261698

NCBI chr11:112,673,036...112,678,583
Ensembl chr11:112,673,050...112,678,586

Stat3

signal transducer and activator of transcription 3

PMID:17289576

NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366

Stk3

serine/threonine kinase 3

NCBI chr15:34,875,645...35,155,990
Ensembl chr15:34,875,642...35,179,067

Stk4

serine/threonine kinase 4

NCBI chr 2:163,916,033...163,997,444
Ensembl chr 2:163,912,242...163,997,444

Strap

serine/threonine kinase receptor associated protein

PMID:14981515

NCBI chr 6:137,712,080...137,728,928
Ensembl chr 6:137,712,076...137,728,930

Tdg

thymine DNA glycosylase

PMID:21722948

NCBI chr10:82,465,649...82,486,633
Ensembl chr10:82,465,662...82,486,633

TEK receptor tyrosine kinase

PMID:7596437 PMID:9683559

NCBI chr 4:94,627,322...94,763,213
Ensembl chr 4:94,627,526...94,763,213

Terc

telomerase RNA component

PMID:11809709

NCBI chr 3:96,321,753...96,322,149
Ensembl chr 3:96,321,753...96,322,149

Tgfbr1

transforming growth factor, beta receptor I

PMID:11285230

NCBI chr 4:47,353,258...47,414,926
Ensembl chr 4:47,353,222...47,414,931

thrombospondin 2

NCBI chr17:14,885,762...14,914,524
Ensembl chr17:14,885,762...14,914,497

titin

NCBI chr 2:76,534,324...76,812,901
Ensembl chr 2:76,534,324...76,812,891

Ubp1

upstream binding protein 1

PMID:15282311

NCBI chr 9:113,760,002...113,807,095
Ensembl chr 9:113,760,002...113,806,270

Ubr5

ubiquitin protein ligase E3 component n-recognin 5

PMID:15282321

NCBI chr15:37,966,421...38,084,103
Ensembl chr15:37,967,572...38,079,098

vav 3 oncogene

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

vascular endothelial growth factor A

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

Vezf1

vascular endothelial zinc finger 1

PMID:15882861

NCBI chr11:87,959,084...87,975,555
Ensembl chr11:87,959,105...87,975,555

Vhl

von Hippel-Lindau tumor suppressor

PMID:14500363 PMID:22464323

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

vimentin

NCBI chr 2:13,579,122...13,587,637
Ensembl chr 2:13,578,738...13,587,637

WASP family, member 2

NCBI chr 4:132,857,843...132,927,067
Ensembl chr 4:132,857,816...132,927,067

WNK lysine deficient protein kinase 1

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

Zfp36l1

zinc finger protein 36, C3H type-like 1

PMID:17013884

NCBI chr12:80,154,534...80,159,787
Ensembl chr12:80,154,528...80,159,787

abnormal anterior cardinal vein morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

activin A receptor, type II-like 1

PMID:12941632

NCBI chr15:101,026,403...101,043,217
Ensembl chr15:101,026,403...101,043,217

delta like canonical Notch ligand 4

PMID:15466159 PMID:15466160

NCBI chr 2:119,156,286...119,166,145
Ensembl chr 2:119,156,265...119,166,443

ephrin B2

PMID:11163240 PMID:11880349

NCBI chr 8:8,667,235...8,711,242
Ensembl chr 8:8,667,434...8,711,242

Eph receptor B4

NCBI chr 5:137,348,371...137,372,784
Ensembl chr 5:137,348,371...137,376,931

FMS-like tyrosine kinase 4

NCBI chr11:49,500,506...49,543,566
Ensembl chr11:49,500,090...49,543,566

forkhead box A2

NCBI chr 2:147,884,797...147,888,889
Ensembl chr 2:147,884,797...147,888,889

Gli3

GLI-Kruppel family member GLI3

PMID:6049666

NCBI chr13:15,638,308...15,904,611
Ensembl chr13:15,637,820...15,904,611

goosecoid homeobox

NCBI chr12:104,437,468...104,439,495
Ensembl chr12:104,437,468...104,439,589

Mycn

v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived

PMID:1459450

NCBI chr12:12,986,094...12,991,837
Ensembl chr12:12,986,094...12,991,915

Notch1

notch 1

PMID:10837027 PMID:15809373

NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675

notch 4

NCBI chr17:34,783,257...34,807,517
Ensembl chr17:34,783,242...34,807,477

Nr2f2

nuclear receptor subfamily 2, group F, member 2

PMID:10215630

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

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

PMID:15687236

NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635

recombination signal binding protein for immunoglobulin kappa J region

NCBI chr 5:53,713,121...53,814,787
Ensembl chr 5:53,623,494...53,814,704

WASP family, member 2

NCBI chr 4:132,857,843...132,927,067
Ensembl chr 4:132,857,816...132,927,067

abnormal aortic arch development

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

cyclin E1

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

cyclin E2

NCBI chr 4:11,190,489...11,204,781
Ensembl chr 4:11,191,351...11,204,779

Dicer1

dicer 1, ribonuclease type III

PMID:21098571

NCBI chr12:104,654,001...104,718,331
Ensembl chr12:104,654,001...104,718,211

Fgf15

fibroblast growth factor 15

PMID:15789410

NCBI chr 7:144,450,269...144,454,690
Ensembl chr 7:144,450,268...144,454,690

fibroblast growth factor 8

PMID:12223416

NCBI chr19:45,724,930...45,731,380
Ensembl chr19:45,725,237...45,731,354

H2A.Z histone variant 2

PMID:21098571

NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443

Paxip1

PAX interacting (with transcription-activation domain) protein 1

PMID:18710940

NCBI chr 5:27,947,044...27,999,326
Ensembl chr 5:27,945,078...27,996,689

Tbx1

T-box 1

PMID:12223416 PMID:15789410

NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421

Tfap2a

transcription factor AP-2, alpha

PMID:11744375

NCBI chr13:40,867,278...40,891,715
Ensembl chr13:40,868,778...40,891,852

abnormal artery development

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Abra

actin-binding Rho activating protein

PMID:19778941

NCBI chr15:41,728,689...41,733,116
Ensembl chr15:41,727,472...41,733,116

Atf2

activating transcription factor 2

PMID:17717295

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

cerebral cavernous malformation 2

NCBI chr11:6,496,887...6,546,761
Ensembl chr11:6,496,887...6,546,744

delta like canonical Notch ligand 4

PMID:15520367

NCBI chr 2:119,156,286...119,166,145
Ensembl chr 2:119,156,265...119,166,443

elastin

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

filamin, beta

NCBI chr14:14,518,185...14,651,852
Ensembl chr14:14,518,185...14,651,816

H2-Ab1

histocompatibility 2, class II antigen A, beta 1

PMID:17717295

NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393

Hey1

hairy/enhancer-of-split related with YRPW motif 1

PMID:15680351

NCBI chr 3:8,728,419...8,732,098
Ensembl chr 3:8,728,419...8,732,316

Hey2

hairy/enhancer-of-split related with YRPW motif 2

PMID:15680351

NCBI chr10:30,708,355...30,718,779
Ensembl chr10:30,708,355...30,718,797

Plekhg5

pleckstrin homology domain containing, family G (with RhoGef domain) member 5

PMID:18757825

NCBI chr 4:152,156,890...152,199,855
Ensembl chr 4:152,156,955...152,199,857

SMAD family member 7

NCBI chr18:75,500,436...75,529,006
Ensembl chr18:75,500,600...75,529,006

T-box 1

NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421

abnormal blood vessel lumen formation

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Dock4

dedicator of cytokinesis 4

PMID:26129894

NCBI chr12:40,495,956...40,896,873
Ensembl chr12:40,495,951...40,896,873

abnormal cardinal vein morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

activin A receptor, type II-like 1

PMID:12941632

NCBI chr15:101,026,403...101,043,217
Ensembl chr15:101,026,403...101,043,217

Bmp10

bone morphogenetic protein 10

PMID:23812757

NCBI chr 6:87,405,976...87,411,494
Ensembl chr 6:87,405,976...87,414,659

Braf

Braf transforming gene

PMID:9207797

NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397

cerebral cavernous malformation 2

PMID:19151727 PMID:19259391

NCBI chr11:6,496,887...6,546,761
Ensembl chr11:6,496,887...6,546,744

Cxadr

coxsackie virus and adenovirus receptor

PMID:16079292 PMID:16543498

NCBI chr16:78,098,114...78,156,673
Ensembl chr16:78,098,377...78,156,662

delta like canonical Notch ligand 4

PMID:15466159 PMID:15520367

NCBI chr 2:119,156,286...119,166,145
Ensembl chr 2:119,156,265...119,166,443

ephrin B2

PMID:9630219 PMID:11163240

NCBI chr 8:8,667,235...8,711,242
Ensembl chr 8:8,667,434...8,711,242

Elp1

elongator complex protein 1

PMID:22046433

NCBI chr 4:56,746,547...56,802,565
Ensembl chr 4:56,749,680...56,802,331

Furin

furin, paired basic amino acid cleaving enzyme

PMID:9811571

NCBI chr 7:80,038,942...80,055,188
Ensembl chr 7:80,038,333...80,055,184

Hdac7

histone deacetylase 7

PMID:16873063

NCBI chr15:97,690,542...97,742,383
Ensembl chr15:97,690,545...97,742,383

heart development protein with EGF-like domains 1

NCBI chr16:33,504,754...33,591,946
Ensembl chr16:33,504,740...33,591,946

Hey1

hairy/enhancer-of-split related with YRPW motif 1

PMID:15107403

NCBI chr 3:8,728,419...8,732,098
Ensembl chr 3:8,728,419...8,732,316

Hey2

hairy/enhancer-of-split related with YRPW motif 2

PMID:15107403

NCBI chr10:30,708,355...30,718,779
Ensembl chr10:30,708,355...30,718,797

Hspb7

heat shock protein family, member 7 (cardiovascular)

PMID:29078393

NCBI chr 4:141,148,090...141,152,621
Ensembl chr 4:141,148,090...141,152,622

Hspg2

perlecan (heparan sulfate proteoglycan 2)

PMID:12142349

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

potassium channel tetramerisation domain containing 10

NCBI chr 5:114,501,633...114,518,566
Ensembl chr 5:114,501,628...114,518,569

myosin XVIIIb

NCBI chr 5:112,836,742...113,044,311
Ensembl chr 5:112,836,742...113,044,228

programmed cell death 10

PMID:20371769 PMID:21490399

NCBI chr 3:75,423,797...75,464,159
Ensembl chr 3:75,423,797...75,464,163

Pip5k1c

phosphatidylinositol-4-phosphate 5-kinase, type 1 gamma

PMID:17609388

NCBI chr10:81,128,669...81,155,808
Ensembl chr10:81,128,797...81,155,807

Ptprb

protein tyrosine phosphatase receptor type B

PMID:17360632

NCBI chr10:116,111,407...116,225,443
Ensembl chr10:116,111,428...116,225,440

tolloid-like

NCBI chr 8:64,466,132...64,659,043
Ensembl chr 8:64,467,965...64,659,305

WNK lysine deficient protein kinase 1

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

abnormal common cardinal vein morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

delta like canonical Notch ligand 4

NCBI chr 2:119,156,286...119,166,145
Ensembl chr 2:119,156,265...119,166,443

recombination signal binding protein for immunoglobulin kappa J region

NCBI chr 5:53,713,121...53,814,787
Ensembl chr 5:53,623,494...53,814,704

T-box18

NCBI chr 9:87,584,853...87,613,313
Ensembl chr 9:87,584,853...87,613,313

abnormal developmental vascular remodeling

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

activin A receptor, type II-like 1

PMID:22783020

NCBI chr15:101,026,403...101,043,217
Ensembl chr15:101,026,403...101,043,217

Arap3

ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3

PMID:20978237

NCBI chr18:38,105,676...38,132,583
Ensembl chr18:38,105,681...38,132,022

cerebral cavernous malformation 2

NCBI chr11:6,496,887...6,546,761
Ensembl chr11:6,496,887...6,546,744

Cep20

centrosomal protein 20

PMID:33686659

NCBI chr16:14,117,105...14,136,093
Ensembl chr16:14,117,108...14,135,269

Cxcl12

C-X-C motif chemokine ligand 12

PMID:23395391

NCBI chr 6:117,145,496...117,158,329
Ensembl chr 6:117,145,496...117,158,328

Cxcr4

C-X-C motif chemokine receptor 4

PMID:23395391

NCBI chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030

ephrin B2

NCBI chr 8:8,667,235...8,711,242
Ensembl chr 8:8,667,434...8,711,242

epsin 1

NCBI chr 7:5,083,207...5,101,178
Ensembl chr 7:5,083,234...5,101,177

epsin 2

NCBI chr11:61,406,709...61,470,560
Ensembl chr11:61,408,075...61,470,513

Erg

ETS transcription factor

PMID:22932696

NCBI chr16:95,160,028...95,387,452
Ensembl chr16:95,160,028...95,387,452

gene trap ROSA 26, Philippe Soriano

PMID:21248239

NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,055,336

programmed cell death 10

NCBI chr 3:75,423,797...75,464,159
Ensembl chr 3:75,423,797...75,464,163

Piezo1

piezo-type mechanosensitive ion channel component 1

PMID:24958852

NCBI chr 8:123,208,437...123,278,068
Ensembl chr 8:123,208,437...123,278,068

Reck

reversion-inducing-cysteine-rich protein with kazal motifs

PMID:20691046

NCBI chr 4:43,875,521...43,944,806
Ensembl chr 4:43,875,530...43,944,806

Slc13a4

solute carrier family 13 (sodium/sulfate symporters), member 4

PMID:26292834

NCBI chr 6:35,244,888...35,285,061
Ensembl chr 6:35,244,892...35,285,066

Snai1

snail family zinc finger 1

PMID:24894949

NCBI chr 2:167,380,115...167,384,734
Ensembl chr 2:167,380,115...167,384,734

Tjp1

tight junction protein 1

PMID:18353970

NCBI chr 7:64,945,913...65,177,629
Ensembl chr 7:64,945,913...65,177,529

Tmem100

transmembrane protein 100

PMID:22783020

NCBI chr11:89,921,174...89,927,334
Ensembl chr11:89,921,174...89,927,334

abnormal dorsal aorta morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

activin A receptor, type II-like 1

PMID:12941632 PMID:17911384 PMID:22783020

NCBI chr15:101,026,403...101,043,217
Ensembl chr15:101,026,403...101,043,217

apelin receptor early endogenous ligand

NCBI chr 8:65,481,069...65,489,970
Ensembl chr 8:65,481,069...65,489,988

Bcas3

BCAS3 microtubule associated cell migration factor

PMID:29618843

NCBI chr11:85,243,611...85,716,884
Ensembl chr11:85,243,993...85,716,884

Bmi1

Bmi1 polycomb ring finger oncogene

PMID:11290297

NCBI chr 2:18,681,953...18,691,440
Ensembl chr 2:18,681,829...18,691,440

cerebral cavernous malformation 2

PMID:19151727 PMID:19259391 PMID:21596842

NCBI chr11:6,496,887...6,546,761
Ensembl chr11:6,496,887...6,546,744

Ccn1

cellular communication network factor 1

PMID:12446788

NCBI chr 3:145,352,726...145,355,740
Ensembl chr 3:145,352,731...145,355,736

Commd9

COMM domain containing 9

PMID:26553930

NCBI chr 2:101,716,607...101,731,984
Ensembl chr 2:101,716,592...101,731,991

delta like canonical Notch ligand 4

PMID:15466159 PMID:15466160 PMID:15520367

NCBI chr 2:119,156,286...119,166,145
Ensembl chr 2:119,156,265...119,166,443

endothelin receptor type A

PMID:9449664 PMID:15664398

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

Elp1

elongator complex protein 1

PMID:22046433

NCBI chr 4:56,746,547...56,802,565
Ensembl chr 4:56,749,680...56,802,331

Eng

endoglin

PMID:10348742 PMID:10625534

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

ets variant 2

NCBI chr 7:30,333,041...30,335,934
Ensembl chr 7:30,333,041...30,335,277

coagulation factor VII

PMID:10749569

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

FMS-like tyrosine kinase 1

PMID:7596436 PMID:15601855

NCBI chr 5:147,498,414...147,663,419
Ensembl chr 5:147,498,414...147,662,821

FMS-like tyrosine kinase 4

NCBI chr11:49,500,506...49,543,566
Ensembl chr11:49,500,090...49,543,566

fibronectin 1

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

forkhead box A2

NCBI chr 2:147,884,797...147,888,889
Ensembl chr 2:147,884,797...147,888,889

forkhead box C1

NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459

Foxc2

forkhead box C2

PMID:10364424 PMID:11562355 PMID:15664398

NCBI chr 8:121,842,910...121,845,634
Ensembl chr 8:121,842,910...121,845,634

Foxo1

forkhead box O1

PMID:15184386 PMID:22055502

NCBI chr 3:52,175,758...52,257,530
Ensembl chr 3:52,175,757...52,260,642

goosecoid homeobox

NCBI chr12:104,437,468...104,439,495
Ensembl chr12:104,437,468...104,439,589

gene trap ROSA 26, Philippe Soriano

PMID:19415626

NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,055,336

H2A.Z histone variant 2

PMID:16332365

NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443

Hdac7

histone deacetylase 7

PMID:16873063

NCBI chr15:97,690,542...97,742,383
Ensembl chr15:97,690,545...97,742,383

heart development protein with EGF-like domains 1

NCBI chr16:33,504,754...33,591,946
Ensembl chr16:33,504,740...33,591,946

Hey1

hairy/enhancer-of-split related with YRPW motif 1

PMID:15107403 PMID:15680351

NCBI chr 3:8,728,419...8,732,098
Ensembl chr 3:8,728,419...8,732,316

Hey2

hairy/enhancer-of-split related with YRPW motif 2

PMID:15107403 PMID:15680351

NCBI chr10:30,708,355...30,718,779
Ensembl chr10:30,708,355...30,718,797

hypoxia inducible factor 1, alpha subunit

PMID:9436976 PMID:9606183 PMID:14659802

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

Isl1

ISL1 transcription factor, LIM/homeodomain

PMID:8565076

NCBI chr13:116,434,806...116,446,224
Ensembl chr13:116,434,817...116,446,225

Itga5

integrin alpha 5 (fibronectin receptor alpha)

PMID:7508365

NCBI chr15:103,252,713...103,275,218
Ensembl chr15:103,252,713...103,275,190

potassium channel tetramerisation domain containing 10

NCBI chr 5:114,501,633...114,518,566
Ensembl chr 5:114,501,628...114,518,569

kinase insert domain protein receptor

PMID:15644447

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

KRIT1, ankyrin repeat containing

PMID:14993192

NCBI chr 5:3,853,156...3,894,515
Ensembl chr 5:3,853,184...3,895,564

Lemd3

LEM domain containing 3

PMID:16943282

NCBI chr10:120,759,316...120,815,491
Ensembl chr10:120,759,318...120,815,237

LIM domain only 2

NCBI chr 2:103,788,309...103,812,223
Ensembl chr 2:103,788,331...103,812,223

mitogen-activated protein kinase kinase kinase 7

PMID:16556914

NCBI chr 4:31,963,659...32,023,470
Ensembl chr 4:31,964,097...32,023,467

mitogen-activated protein kinase 7

PMID:12093914 PMID:12221099

NCBI chr11:61,379,638...61,385,101
Ensembl chr11:61,379,638...61,385,232

Med24

mediator complex subunit 24

PMID:12093747

NCBI chr11:98,595,423...98,620,245
Ensembl chr11:98,595,417...98,620,261

myocyte enhancer factor 2C

NCBI chr13:83,652,136...83,815,197
Ensembl chr13:83,652,153...83,815,199

Metap2

methionine aminopeptidase 2

PMID:16790550

NCBI chr10:93,694,351...93,732,952
Ensembl chr10:93,694,351...93,732,955

Mib1

MIB E3 ubiquitin protein ligase 1

PMID:16000382 PMID:18043734

NCBI chr18:10,725,523...10,822,969
Ensembl chr18:10,725,548...10,818,704

Mycn

v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived

PMID:1459449

NCBI chr12:12,986,094...12,991,837
Ensembl chr12:12,986,094...12,991,915

myocardin

NCBI chr11:65,064,434...65,160,821
Ensembl chr11:65,067,387...65,160,815

Nfatc3

nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 3

PMID:12750314

NCBI chr 8:106,785,450...106,857,169
Ensembl chr 8:106,785,472...106,857,169

Nfatc4

nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 4

PMID:12750314

NCBI chr14:56,062,252...56,071,400
Ensembl chr14:56,060,601...56,071,400

NK2 homeobox 5

NCBI chr17:27,057,638...27,063,962
Ensembl chr17:27,057,638...27,063,983

notch 1

NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675

notch 4

NCBI chr17:34,783,257...34,807,517
Ensembl chr17:34,783,242...34,807,477

Nrp1

neuropilin 1

PMID:10518505 PMID:11891274

NCBI chr 8:129,085,553...129,231,957
Ensembl chr 8:129,085,085...129,229,844

neuropilin 2

NCBI chr 1:62,742,476...62,857,851
Ensembl chr 1:62,742,444...62,857,854

paired box 1

NCBI chr 2:147,203,850...147,216,972
Ensembl chr 2:147,203,845...147,235,215

Pcgf2

polycomb group ring finger 2

PMID:11290297

NCBI chr11:97,579,647...97,593,260
Ensembl chr11:97,579,649...97,591,323

programmed cell death 10

NCBI chr 3:75,423,797...75,464,159
Ensembl chr 3:75,423,797...75,464,163

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635

Poglut1

protein O-glucosyltransferase 1

PMID:21490058

NCBI chr16:38,345,420...38,370,619
Ensembl chr16:38,345,499...38,370,620

Prdm1

PR domain containing 1, with ZNF domain

PMID:15750184

NCBI chr10:44,313,170...44,404,579
Ensembl chr10:44,313,173...44,404,497

protein C

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

PTK2 protein tyrosine kinase 2

PMID:7566154 PMID:12595342

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

Ptprj

protein tyrosine phosphatase receptor type J

PMID:12588999

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

paxillin

NCBI chr 5:115,630,035...115,694,046
Ensembl chr 5:115,644,735...115,694,046

Rasa1

RAS p21 protein activator 1

PMID:7477259 PMID:25283357

NCBI chr13:85,362,893...85,437,487
Ensembl chr13:85,362,899...85,437,249

Ras interacting protein 1

PMID:21396893 PMID:23886837

NCBI chr 7:45,276,961...45,288,516
Ensembl chr 7:45,276,912...45,288,517

recombination signal binding protein for immunoglobulin kappa J region

NCBI chr 5:53,713,121...53,814,787
Ensembl chr 5:53,623,494...53,814,704

Rdh10

retinol dehydrogenase 10 (all-trans)

PMID:21305688

NCBI chr 1:16,176,106...16,202,774
Ensembl chr 1:16,175,998...16,203,958

Robo1

roundabout guidance receptor 1

PMID:23328398

NCBI chr16:71,824,406...72,844,379
Ensembl chr16:72,105,194...72,842,983

Robo2

roundabout guidance receptor 2

PMID:23328398

NCBI chr16:73,688,725...75,244,331
Ensembl chr16:73,688,727...74,889,765

Runx1

runt related transcription factor 1

PMID:20139099

NCBI chr16:92,398,354...92,622,962
Ensembl chr16:92,398,354...92,623,037

SMAD family member 2

NCBI chr18:76,369,898...76,444,819
Ensembl chr18:76,374,651...76,444,034

SMAD family member 5

NCBI chr13:56,850,804...56,890,191
Ensembl chr13:56,850,823...56,890,190

sphingosine kinase 1

NCBI chr11:116,421,662...116,427,502
Ensembl chr11:116,421,751...116,427,501

sphingosine kinase 2

NCBI chr 7:45,358,887...45,367,426
Ensembl chr 7:45,358,891...45,367,426

Stk11

serine/threonine kinase 11

PMID:11509733

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

brachyury, T-box transcription factor T

NCBI chr17:8,653,255...8,661,328
Ensembl chr17:8,653,255...8,661,328

T-box 1

NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421

Tdg

thymine DNA glycosylase

PMID:21722948

NCBI chr10:82,465,649...82,486,633
Ensembl chr10:82,465,662...82,486,633

TEK receptor tyrosine kinase

PMID:7477259

NCBI chr 4:94,627,322...94,763,213
Ensembl chr 4:94,627,526...94,763,213

Tgfbr2

transforming growth factor, beta receptor II

PMID:16332365

NCBI chr 9:115,916,763...116,004,431
Ensembl chr 9:115,913,361...116,004,428

Tmem100

transmembrane protein 100

PMID:22783020

NCBI chr11:89,921,174...89,927,334
Ensembl chr11:89,921,174...89,927,334

titin

NCBI chr 2:76,534,324...76,812,901
Ensembl chr 2:76,534,324...76,812,891

vascular endothelial growth factor A

PMID:8602241 PMID:8602242 PMID:11934854

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

WASP family, member 2

NCBI chr 4:132,857,843...132,927,067
Ensembl chr 4:132,857,816...132,927,067

WNK lysine deficient protein kinase 1

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

Zfp36l1

zinc finger protein 36, C3H type-like 1

PMID:17013884

NCBI chr12:80,154,534...80,159,787
Ensembl chr12:80,154,528...80,159,787

zinc finger, MIZ-type containing 1

NCBI chr14:25,458,299...25,667,167
Ensembl chr14:25,459,609...25,667,167

abnormal fetal ductus arteriosus morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Prrx1

paired related homeobox 1

PMID:10664157

NCBI chr 1:163,072,688...163,142,714
Ensembl chr 1:163,072,688...163,141,279

Prrx2

paired related homeobox 2

PMID:10664157

NCBI chr 2:30,735,076...30,771,263
Ensembl chr 2:30,724,984...30,771,263

Ripply3

ripply transcriptional repressor 3

PMID:21177346

NCBI chr16:94,129,281...94,137,794
Ensembl chr16:94,129,279...94,137,794

Tfap2b

transcription factor AP-2 beta

PMID:29804851

NCBI chr 1:19,279,132...19,309,071
Ensembl chr 1:19,279,138...19,308,800

abnormal first pharyngeal arch artery morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

cerebral cavernous malformation 2

PMID:19151728

NCBI chr11:6,496,887...6,546,761
Ensembl chr11:6,496,887...6,546,744

forkhead box A2

NCBI chr 2:147,884,797...147,888,889
Ensembl chr 2:147,884,797...147,888,889

Gata3

GATA binding protein 3

PMID:18955134

NCBI chr 2:9,861,889...9,894,845
Ensembl chr 2:9,861,889...9,894,845

goosecoid homeobox

NCBI chr12:104,437,468...104,439,495
Ensembl chr12:104,437,468...104,439,589

Hand2

heart and neural crest derivatives expressed 2

PMID:9171826

NCBI chr 8:57,774,018...57,777,552
Ensembl chr 8:57,774,018...57,777,668

Kat7

K(lysine) acetyltransferase 7

PMID:21149574

NCBI chr11:95,162,683...95,201,030
Ensembl chr11:95,165,085...95,201,072

msh homeobox 1

NCBI chr 5:37,977,835...37,981,929
Ensembl chr 5:37,977,829...37,981,927

neuropilin 1

NCBI chr 8:129,085,553...129,231,957
Ensembl chr 8:129,085,085...129,229,844

paired box 9

NCBI chr12:56,738,478...56,759,609
Ensembl chr12:56,738,552...56,759,607

abnormal fourth pharyngeal arch artery morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

AT-rich interaction domain 1A

PMID:26806701

NCBI chr 4:133,406,319...133,484,682
Ensembl chr 4:133,406,319...133,484,080

Chd7

chromodomain helicase DNA binding protein 7

PMID:19855134

NCBI chr 4:8,690,345...8,868,449
Ensembl chr 4:8,690,406...8,867,659

Ece1

endothelin converting enzyme 1

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

endothelin 1

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

endothelin receptor type A

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

fibroblast growth factor 10

NCBI chr13:118,851,199...118,928,651
Ensembl chr13:118,806,327...118,928,651

fibroblast growth factor 8

PMID:12223416 PMID:14623825 PMID:19855134 PMID:20035084

NCBI chr19:45,724,930...45,731,380
Ensembl chr19:45,725,237...45,731,354

forkhead box C1

NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459

Foxc2

forkhead box C2

PMID:9409679 PMID:10479458

NCBI chr 8:121,842,910...121,845,634
Ensembl chr 8:121,842,910...121,845,634

Gbx2

gastrulation brain homeobox 2

PMID:15996652

NCBI chr 1:89,855,684...89,858,898
Ensembl chr 1:89,855,678...89,858,901

H2A.Z histone variant 2

PMID:16332365 PMID:19855134 PMID:26806701

NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443

homeobox A3

NCBI chr 6:52,146,039...52,190,316
Ensembl chr 6:52,146,042...52,190,316

Kat6a

K(lysine) acetyltransferase 6A

PMID:22921202

NCBI chr 8:23,349,458...23,433,275
Ensembl chr 8:23,349,551...23,433,275

Ltbp1

latent transforming growth factor beta binding protein 1

PMID:17804598

NCBI chr17:75,312,475...75,699,507
Ensembl chr17:75,312,563...75,699,507

Mesp1

mesoderm posterior 1

PMID:19855134 PMID:20035084

NCBI chr 7:79,441,989...79,443,338
Ensembl chr 7:79,441,989...79,443,536

Mrtfb

myocardin related transcription factor B

PMID:16204380

NCBI chr16:13,073,913...13,235,393
Ensembl chr16:13,074,345...13,235,393

msh homeobox 1

NCBI chr 5:37,977,835...37,981,929
Ensembl chr 5:37,977,829...37,981,927

neuropilin 1

NCBI chr 8:129,085,553...129,231,957
Ensembl chr 8:129,085,085...129,229,844

paired box 9

NCBI chr12:56,738,478...56,759,609
Ensembl chr12:56,738,552...56,759,607

plexin D1

NCBI chr 6:115,931,772...115,972,300
Ensembl chr 6:115,931,772...115,971,966

Rara

retinoic acid receptor, alpha

NCBI chr11:98,818,626...98,865,768
Ensembl chr11:98,818,644...98,865,768

Rarb

retinoic acid receptor, beta

NCBI chr14:5,387,365...6,038,924
Ensembl chr14:5,650,540...6,038,924

Rarg

retinoic acid receptor, gamma

NCBI chr15:102,143,373...102,165,891
Ensembl chr15:102,143,373...102,165,952

SMAD family member 7

NCBI chr18:75,500,436...75,529,006
Ensembl chr18:75,500,600...75,529,006

Tbx1

T-box 1

PMID:11242049 PMID:11242110 PMID:12223416 PMID:12858556 PMID:23011393

NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421

Tfap2a

transcription factor AP-2, alpha

PMID:14623825

NCBI chr13:40,867,278...40,891,715
Ensembl chr13:40,868,778...40,891,852

Tgfbr2

transforming growth factor, beta receptor II

PMID:16332365

NCBI chr 9:115,916,763...116,004,431
Ensembl chr 9:115,913,361...116,004,428

vascular endothelial growth factor A

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

abnormal intersomitic artery morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

apelin receptor early endogenous ligand

NCBI chr 8:65,481,069...65,489,970
Ensembl chr 8:65,481,069...65,489,988

KRIT1, ankyrin repeat containing

PMID:14993192

NCBI chr 5:3,853,156...3,894,515
Ensembl chr 5:3,853,184...3,895,564

NK2 homeobox 5

NCBI chr17:27,057,638...27,063,962
Ensembl chr17:27,057,638...27,063,983

Rasa1

RAS p21 protein activator 1

PMID:25283357

NCBI chr13:85,362,893...85,437,487
Ensembl chr13:85,362,899...85,437,249

T-box 6

NCBI chr 7:126,380,655...126,384,720
Ensembl chr 7:126,380,655...126,384,732

abnormal perineural vascular plexus morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Adgra2

adhesion G protein-coupled receptor A2

PMID:21071672

NCBI chr 8:27,575,546...27,613,464
Ensembl chr 8:27,575,611...27,613,464

endoglin

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

FMS-like tyrosine kinase 4

NCBI chr11:49,500,506...49,543,566
Ensembl chr11:49,500,090...49,543,566

Gne

glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase

PMID:38237079

NCBI chr 4:44,034,075...44,084,177
Ensembl chr 4:44,034,075...44,084,177

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635

zinc finger, MIZ-type containing 1

NCBI chr14:25,458,299...25,667,167
Ensembl chr14:25,459,609...25,667,167

abnormal pharyngeal arch artery morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

activin A receptor, type 1

NCBI chr 2:58,336,450...58,456,840
Ensembl chr 2:58,278,656...58,457,169

Aldh1a2

aldehyde dehydrogenase family 1, subfamily A2

PMID:12563036

NCBI chr 9:71,123,071...71,203,525
Ensembl chr 9:71,123,071...71,203,525

Bmp2

bone morphogenetic protein 2

PMID:12464426

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

Bmp4

bone morphogenetic protein 4

PMID:15070745

NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126

cerebral cavernous malformation 2

PMID:19151728 PMID:22898778

NCBI chr11:6,496,887...6,546,761
Ensembl chr11:6,496,887...6,546,744

Chd7

chromodomain helicase DNA binding protein 7

PMID:19855134

NCBI chr 4:8,690,345...8,868,449
Ensembl chr 4:8,690,406...8,867,659

chordin

NCBI chr16:20,551,528...20,561,132
Ensembl chr16:20,551,877...20,561,134

endothelin 1

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

endothelin receptor type A

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

fibroblast growth factor 10

NCBI chr13:118,851,199...118,928,651
Ensembl chr13:118,806,327...118,928,651

fibroblast growth factor 8

PMID:14623825 PMID:15996652 PMID:20035084

NCBI chr19:45,724,930...45,731,380
Ensembl chr19:45,725,237...45,731,354

Foxc1

forkhead box C1

PMID:10479458 PMID:11562355

NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459

Foxc2

forkhead box C2

PMID:10479458 PMID:11562355

NCBI chr 8:121,842,910...121,845,634
Ensembl chr 8:121,842,910...121,845,634

forkhead box H1

NCBI chr15:76,552,029...76,554,286
Ensembl chr15:76,552,425...76,554,148

Gata3

GATA binding protein 3

PMID:18955134

NCBI chr 2:9,861,889...9,894,845
Ensembl chr 2:9,861,889...9,894,845

Gbx2

gastrulation brain homeobox 2

PMID:15996652

NCBI chr 1:89,855,684...89,858,898
Ensembl chr 1:89,855,678...89,858,901

H2A.Z histone variant 2

NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443

Hand2

heart and neural crest derivatives expressed 2

PMID:9171826 PMID:20386744

NCBI chr 8:57,774,018...57,777,552
Ensembl chr 8:57,774,018...57,777,668

Hdac7

histone deacetylase 7

PMID:16873063

NCBI chr15:97,690,542...97,742,383
Ensembl chr15:97,690,545...97,742,383

heart development protein with EGF-like domains 1

PMID:22898778

NCBI chr16:33,504,754...33,591,946
Ensembl chr16:33,504,740...33,591,946

homeobox A3

NCBI chr 6:52,146,039...52,190,316
Ensembl chr 6:52,146,042...52,190,316

Isl1

ISL1 transcription factor, LIM/homeodomain

PMID:23437302

NCBI chr13:116,434,806...116,446,224
Ensembl chr13:116,434,817...116,446,225

jun proto-oncogene

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

KRIT1, ankyrin repeat containing

PMID:24990152

NCBI chr 5:3,853,156...3,894,515
Ensembl chr 5:3,853,184...3,895,564

mitogen-activated protein kinase kinase kinase 7

PMID:16556914

NCBI chr 4:31,963,659...32,023,470
Ensembl chr 4:31,964,097...32,023,467

myocyte enhancer factor 2C

NCBI chr13:83,652,136...83,815,197
Ensembl chr13:83,652,153...83,815,199

Mesp1

mesoderm posterior 1

PMID:16914493 PMID:20035084

NCBI chr 7:79,441,989...79,443,338
Ensembl chr 7:79,441,989...79,443,536

Mrtfb

myocardin related transcription factor B

PMID:15951419 PMID:16204380

NCBI chr16:13,073,913...13,235,393
Ensembl chr16:13,074,345...13,235,393

msh homeobox 1

NCBI chr 5:37,977,835...37,981,929
Ensembl chr 5:37,977,829...37,981,927

Nkx2-5

NK2 homeobox 5

PMID:15070745 PMID:15175244

NCBI chr17:27,057,638...27,063,962
Ensembl chr17:27,057,638...27,063,983

neuropilin 1

NCBI chr 8:129,085,553...129,231,957
Ensembl chr 8:129,085,085...129,229,844

paired box 3

NCBI chr 1:78,077,904...78,173,773
Ensembl chr 1:78,077,904...78,173,771

paired box 9

NCBI chr12:56,738,478...56,759,609
Ensembl chr12:56,738,552...56,759,607

Pitx2

paired-like homeodomain transcription factor 2

PMID:12397115

NCBI chr 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240

Rxra

retinoid X receptor alpha

PMID:19255444

NCBI chr 2:27,566,457...27,653,331
Ensembl chr 2:27,566,452...27,652,969

SMAD family member 7

NCBI chr18:75,500,436...75,529,006
Ensembl chr18:75,500,600...75,529,006

Tbx1

T-box 1

PMID:11242049 PMID:11242110 PMID:12464426 PMID:15175244 PMID:16914493 More...

NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421

Tfap2a

transcription factor AP-2, alpha

PMID:14623825

NCBI chr13:40,867,278...40,891,715
Ensembl chr13:40,868,778...40,891,852

vascular endothelial growth factor A

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

Vezf1

vascular endothelial zinc finger 1

PMID:15882861

NCBI chr11:87,959,084...87,975,555
Ensembl chr11:87,959,105...87,975,555

zinc finger, MIZ-type containing 1

NCBI chr14:25,458,299...25,667,167
Ensembl chr14:25,459,609...25,667,167

abnormal physiological neovascularization

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Atp2a2

ATPase, Ca++ transporting, cardiac muscle, slow twitch 2

PMID:24920669

NCBI chr 5:122,591,576...122,640,288
Ensembl chr 5:122,591,576...122,640,288

B4galt1

UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1

PMID:15039218

NCBI chr 4:40,804,602...40,855,711
Ensembl chr 4:40,804,602...40,854,005

Ccl2

C-C motif chemokine ligand 2

PMID:15718500

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

CD44 antigen

NCBI chr 2:102,641,486...102,732,014
Ensembl chr 2:102,641,486...102,732,010

Cd47

CD47 antigen (Rh-related antigen, integrin-associated signal transducer)

PMID:17293482

NCBI chr16:49,671,691...49,732,799
Ensembl chr16:49,620,896...49,735,373

Clic4

chloride intracellular channel 4

PMID:19197003

NCBI chr 4:134,941,280...135,000,071
Ensembl chr 4:134,941,280...135,000,125

Creg1

cellular repressor of E1A-stimulated genes 1

PMID:24896341

NCBI chr 1:165,591,327...165,602,878
Ensembl chr 1:165,591,315...165,602,877

Cxcl12

C-X-C motif chemokine ligand 12

PMID:23035208

NCBI chr 6:117,145,496...117,158,329
Ensembl chr 6:117,145,496...117,158,328

Cxcr3

C-X-C motif chemokine receptor 3

PMID:15718500

NCBI chr X:100,775,141...100,777,753
Ensembl chr X:100,775,141...100,777,875

Ddah1

dimethylarginine dimethylaminohydrolase 1

PMID:25910799

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

Elavl1

ELAV like RNA binding protein 1

PMID:22322302

NCBI chr 8:4,334,781...4,375,104
Ensembl chr 8:4,335,382...4,375,413

Epas1

endothelial PAS domain protein 1

PMID:12606578

NCBI chr17:87,061,292...87,140,838
Ensembl chr17:87,061,128...87,140,838

Epor

erythropoietin receptor

PMID:12606578

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

FMS-like tyrosine kinase 1

PMID:18583712

NCBI chr 5:147,498,414...147,663,419
Ensembl chr 5:147,498,414...147,662,821

H2ax

H2A.X variant histone

PMID:19377486

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

lysine demethylase and nuclear receptor corepressor

PMID:24845637

NCBI chr14:70,789,644...70,810,988
Ensembl chr14:70,789,652...70,810,988

integrin beta 3

NCBI chr11:104,498,826...104,561,302
Ensembl chr11:104,498,826...104,561,302

lamin A

NCBI chr 3:88,388,455...88,413,842
Ensembl chr 3:88,387,454...88,417,263

lysophospholipase 1

NCBI chr 1:4,878,046...4,916,958
Ensembl chr 1:4,878,011...4,918,633

lysozyme 2

NCBI chr10:117,113,446...117,118,177
Ensembl chr10:117,113,236...117,118,226

Mfge8

milk fat globule EGF and factor V/VIII domain containing

PMID:15834428

NCBI chr 7:78,783,516...78,798,808
Ensembl chr 7:78,783,516...78,798,808

microRNA 409

NCBI chr12:109,709,592...109,709,670
Ensembl chr12:109,709,592...109,709,670

Mmp9

matrix metallopeptidase 9

PMID:16126817

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

myc target 1

NCBI chr10:5,543,728...5,556,789
Ensembl chr10:5,543,775...5,556,904

Nos2

nitric oxide synthase 2, inducible

PMID:15546953

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

Ptk2b

PTK2 protein tyrosine kinase 2 beta

PMID:17698736

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

Rnf213

ring finger protein 213

PMID:25446450

NCBI chr11:119,280,778...119,378,245
Ensembl chr11:119,283,926...119,378,244

Rras

related RAS viral (r-ras) oncogene

PMID:16286923

NCBI chr 7:44,665,686...44,671,070
Ensembl chr 7:44,667,385...44,671,071

sonic hedgehog

NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254

Spp1

secreted phosphoprotein 1

PMID:11181551

NCBI chr 5:104,582,977...104,588,919
Ensembl chr 5:104,582,984...104,588,916

thrombospondin 1

NCBI chr 2:117,942,357...117,957,614
Ensembl chr 2:117,942,357...117,957,614

Xbp1

X-box binding protein 1

PMID:23529610

NCBI chr11:5,470,641...5,475,993
Ensembl chr11:5,470,659...5,475,893

abnormal posterior cardinal vein morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Hacd2

3-hydroxyacyl-CoA dehydratase 2

PMID:36693621

NCBI chr16:34,842,791...34,929,560
Ensembl chr16:34,842,798...34,929,547

Nr2f2

nuclear receptor subfamily 2, group F, member 2

PMID:10215630

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

abnormal second pharyngeal arch artery morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

cerebral cavernous malformation 2

PMID:19151728

NCBI chr11:6,496,887...6,546,761
Ensembl chr11:6,496,887...6,546,744

Gata3

GATA binding protein 3

PMID:18955134

NCBI chr 2:9,861,889...9,894,845
Ensembl chr 2:9,861,889...9,894,845

msh homeobox 1

NCBI chr 5:37,977,835...37,981,929
Ensembl chr 5:37,977,829...37,981,927

neuropilin 1

NCBI chr 8:129,085,553...129,231,957
Ensembl chr 8:129,085,085...129,229,844

paired box 9

NCBI chr12:56,738,478...56,759,609
Ensembl chr12:56,738,552...56,759,607

Rdh10

retinol dehydrogenase 10 (all-trans)

PMID:21305688

NCBI chr 1:16,176,106...16,202,774
Ensembl chr 1:16,175,998...16,203,958

Ripply3

ripply transcriptional repressor 3

PMID:21177346

NCBI chr16:94,129,281...94,137,794
Ensembl chr16:94,129,279...94,137,794

T-box 1

NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421

abnormal sixth pharyngeal arch artery morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

activin A receptor, type 1

NCBI chr 2:58,336,450...58,456,840
Ensembl chr 2:58,278,656...58,457,169

AT-rich interaction domain 1A

PMID:26806701

NCBI chr 4:133,406,319...133,484,682
Ensembl chr 4:133,406,319...133,484,080

Chd7

chromodomain helicase DNA binding protein 7

PMID:19855134

NCBI chr 4:8,690,345...8,868,449
Ensembl chr 4:8,690,406...8,867,659

Ece1

endothelin converting enzyme 1

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

endothelin receptor type A

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

fibroblast growth factor 10

NCBI chr13:118,851,199...118,928,651
Ensembl chr13:118,806,327...118,928,651

fibroblast growth factor 8

NCBI chr19:45,724,930...45,731,380
Ensembl chr19:45,725,237...45,731,354

H2A.Z histone variant 2

PMID:15226263 PMID:26806701

NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443

Isl1

ISL1 transcription factor, LIM/homeodomain

PMID:16687132

NCBI chr13:116,434,806...116,446,224
Ensembl chr13:116,434,817...116,446,225

Mesp1

mesoderm posterior 1

PMID:19855134 PMID:20035084

NCBI chr 7:79,441,989...79,443,338
Ensembl chr 7:79,441,989...79,443,536

Mrtfb

myocardin related transcription factor B

PMID:16204380

NCBI chr16:13,073,913...13,235,393
Ensembl chr16:13,074,345...13,235,393

neuropilin 1

NCBI chr 8:129,085,553...129,231,957
Ensembl chr 8:129,085,085...129,229,844

paired box 3

NCBI chr 1:78,077,904...78,173,773
Ensembl chr 1:78,077,904...78,173,771

Pitx2

paired-like homeodomain transcription factor 2

PMID:17994097

NCBI chr 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240

plexin D1

NCBI chr 6:115,931,772...115,972,300
Ensembl chr 6:115,931,772...115,971,966

Rara

retinoic acid receptor, alpha

NCBI chr11:98,818,626...98,865,768
Ensembl chr11:98,818,644...98,865,768

Rarb

retinoic acid receptor, beta

NCBI chr14:5,387,365...6,038,924
Ensembl chr14:5,650,540...6,038,924

Rarg

retinoic acid receptor, gamma

NCBI chr15:102,143,373...102,165,891
Ensembl chr15:102,143,373...102,165,952

Smo

smoothened, frizzled class receptor

PMID:16687132

NCBI chr 6:29,735,480...29,761,359
Ensembl chr 6:29,735,502...29,761,364

T-box 1

NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421

vascular endothelial growth factor A

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

abnormal third pharyngeal arch artery morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

activin A receptor, type 1

NCBI chr 2:58,336,450...58,456,840
Ensembl chr 2:58,278,656...58,457,169

Aldh1a2

aldehyde dehydrogenase family 1, subfamily A2

PMID:12563036

NCBI chr 9:71,123,071...71,203,525
Ensembl chr 9:71,123,071...71,203,525

AT-rich interaction domain 1A

PMID:26806701

NCBI chr 4:133,406,319...133,484,682
Ensembl chr 4:133,406,319...133,484,080

cerebral cavernous malformation 2

PMID:19151728

NCBI chr11:6,496,887...6,546,761
Ensembl chr11:6,496,887...6,546,744

Ece1

endothelin converting enzyme 1

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

endothelin receptor type A

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

fibroblast growth factor 10

NCBI chr13:118,851,199...118,928,651
Ensembl chr13:118,806,327...118,928,651

fibroblast growth factor 8

NCBI chr19:45,724,930...45,731,380
Ensembl chr19:45,725,237...45,731,354

forkhead box C2

NCBI chr 8:121,842,910...121,845,634
Ensembl chr 8:121,842,910...121,845,634

H2A.Z histone variant 2

PMID:15226263 PMID:26806701

NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443

mesoderm posterior 1

NCBI chr 7:79,441,989...79,443,338
Ensembl chr 7:79,441,989...79,443,536

msh homeobox 1

NCBI chr 5:37,977,835...37,981,929
Ensembl chr 5:37,977,829...37,981,927

neuropilin 1

NCBI chr 8:129,085,553...129,231,957
Ensembl chr 8:129,085,085...129,229,844

paired box 9

NCBI chr12:56,738,478...56,759,609
Ensembl chr12:56,738,552...56,759,607

T-box 1

NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421

vascular endothelial growth factor A

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

abnormal tumor vascularization

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Adamts12

ADAM metallopeptidase with thrombospondin type 1 motif 12

PMID:20208563

NCBI chr15:11,064,781...11,349,321
Ensembl chr15:11,064,876...11,349,317

Adgrl4

adhesion G protein-coupled receptor L4

PMID:34347079

NCBI chr 3:151,143,519...151,250,718
Ensembl chr 3:151,143,524...151,250,723

Aggf1

angiogenic factor with G patch and FHA domains 1

PMID:27522498

NCBI chr13:95,487,191...95,511,865
Ensembl chr13:95,487,191...95,511,860

angiomotin-like 1

NCBI chr 9:14,453,262...14,574,408
Ensembl chr 9:14,453,262...14,556,352

annexin A1

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

Apc

APC, WNT signaling pathway regulator

PMID:19893577 PMID:29844172

NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605

Arhgef4

Rho guanine nucleotide exchange factor 4

PMID:19893577 PMID:19897489

NCBI chr 1:34,717,263...34,851,819
Ensembl chr 1:34,717,269...34,852,390

caveolin 2

NCBI chr 6:17,281,184...17,289,129
Ensembl chr 6:17,281,184...17,289,114

Ccm2l

cerebral cavernous malformation 2-like

PMID:22898778

NCBI chr 2:152,907,857...152,923,655
Ensembl chr 2:152,907,875...152,923,655

CD82 antigen

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

cadherin 1

NCBI chr 8:107,329,982...107,396,879
Ensembl chr 8:107,329,983...107,396,878

cadherin 13

NCBI chr 8:119,010,150...120,051,668
Ensembl chr 8:119,010,472...120,051,660

checkpoint kinase 1

NCBI chr 9:36,619,935...36,637,897
Ensembl chr 9:36,619,778...36,638,361

Dock4

dedicator of cytokinesis 4

PMID:26129894

NCBI chr12:40,495,956...40,896,873
Ensembl chr12:40,495,951...40,896,873

epsin 1

NCBI chr 7:5,083,207...5,101,178
Ensembl chr 7:5,083,234...5,101,177

epsin 2

NCBI chr11:61,406,709...61,470,560
Ensembl chr11:61,408,075...61,470,513

Esm1

endothelial cell-specific molecule 1

PMID:25057127

NCBI chr13:113,346,193...113,354,638
Ensembl chr13:113,346,193...113,354,632

F2rl1

F2R like trypsin receptor 1

PMID:18757438

NCBI chr13:95,648,226...95,661,748
Ensembl chr13:95,648,240...95,661,735

Fkbpl

FK506 binding protein-like

PMID:25767277

NCBI chr17:34,863,788...34,865,791
Ensembl chr17:34,863,738...34,865,298

Gpr4

G protein-coupled receptor 4

PMID:22045552

NCBI chr 7:18,946,463...18,958,101
Ensembl chr 7:18,946,463...18,958,099

gene trap ROSA 26, Philippe Soriano

PMID:20407033 PMID:23077666 PMID:24280485

NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,055,336

H2ax

H2A.X variant histone

PMID:19377486

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

hexokinase 2

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

Id1

inhibitor of DNA binding 1, HLH protein

PMID:10537105

NCBI chr 2:152,578,171...152,579,330
Ensembl chr 2:152,578,171...152,579,330

Id3

inhibitor of DNA binding 3

PMID:10537105

NCBI chr 4:135,871,133...135,872,703
Ensembl chr 4:135,870,808...135,873,066

Idh2

isocitrate dehydrogenase 2 (NADP+), mitochondrial

PMID:24240089

NCBI chr 7:79,744,594...79,768,356
Ensembl chr 7:79,744,594...79,765,140

Ifngr1

interferon gamma receptor 1

PMID:10894167

NCBI chr10:19,467,697...19,485,977
Ensembl chr10:19,467,697...19,485,977

Il12rb2

interleukin 12 receptor, beta 2

PMID:17360466

NCBI chr 6:67,263,914...67,353,277
Ensembl chr 6:67,268,302...67,353,172

interleukin 1 alpha

NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892

interleukin 1 beta

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

integrin alpha 6

NCBI chr 2:71,617,236...71,688,761
Ensembl chr 2:71,575,960...71,688,760

integrin beta 3

NCBI chr11:104,498,826...104,561,302
Ensembl chr11:104,498,826...104,561,302

integrin beta 5

NCBI chr16:33,650,021...33,769,708
Ensembl chr16:33,650,035...33,769,708

Jcad

junctional cadherin 5 associated

PMID:28705794

NCBI chr18:4,590,775...4,682,869
Ensembl chr18:4,634,878...4,682,869

Mapkapk2

MAP kinase-activated protein kinase 2

PMID:29844172

NCBI chr 1:130,981,437...131,025,580
Ensembl chr 1:130,981,437...131,025,563

multimerin 2

NCBI chr14:34,097,461...34,126,244
Ensembl chr14:34,097,422...34,126,244

myc target 1

NCBI chr10:5,543,728...5,556,789
Ensembl chr10:5,543,775...5,556,904

Peak1

pseudopodium-enriched atypical kinase 1

PMID:29872538

NCBI chr 9:56,108,410...56,325,972
Ensembl chr 9:56,108,410...56,325,351

phospholipase D1

NCBI chr 3:27,992,636...28,187,388
Ensembl chr 3:27,992,844...28,187,511

Rhoj

ras homolog family member J

PMID:24434213

NCBI chr12:75,355,087...75,448,229
Ensembl chr12:75,355,096...75,448,230

Rras

related RAS viral (r-ras) oncogene

PMID:16286923

NCBI chr 7:44,665,686...44,671,070
Ensembl chr 7:44,667,385...44,671,071

S1pr2

sphingosine-1-phosphate receptor 2

PMID:20068174

NCBI chr 9:20,877,248...20,888,089
Ensembl chr 9:20,873,657...20,888,077

Spata13

spermatogenesis associated 13

PMID:19893577

NCBI chr14:60,722,617...61,002,005
Ensembl chr14:60,871,450...61,002,005

Stard13

StAR related lipid transfer domain containing 13

PMID:20208559

NCBI chr 5:150,960,975...151,351,780
Ensembl chr 5:150,960,975...151,157,301

Trp53

transformation related protein 53

PMID:17097565 PMID:20473325

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

abnormal umbilical artery morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

1700067K01Rik

RIKEN cDNA 1700067K01 gene

NCBI chr 8:84,727,145...84,731,399
Ensembl chr 8:84,728,131...84,731,399

Bmp5

bone morphogenetic protein 5

PMID:5692092

NCBI chr 9:75,682,647...75,807,598
Ensembl chr 9:75,682,646...75,807,592

cadherin 5

NCBI chr 8:104,828,247...104,871,136
Ensembl chr 8:104,828,257...104,871,143

delta like canonical Notch ligand 4

PMID:15466159

NCBI chr 2:119,156,286...119,166,145
Ensembl chr 2:119,156,265...119,166,443

homeobox A13

NCBI chr 6:52,235,833...52,237,865
Ensembl chr 6:52,234,674...52,237,788

potassium channel tetramerisation domain containing 10

NCBI chr 5:114,501,633...114,518,566
Ensembl chr 5:114,501,628...114,518,569

Ramp2

receptor (calcitonin) activity modifying protein 2

PMID:18097473

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

T-box 4

NCBI chr11:85,777,193...85,806,923
Ensembl chr11:85,777,248...85,806,923

abnormal umbilical vein topology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

1700067K01Rik

RIKEN cDNA 1700067K01 gene

NCBI chr 8:84,727,145...84,731,399
Ensembl chr 8:84,728,131...84,731,399

Adcy9

adenylate cyclase 9

NCBI chr16:4,102,750...4,255,094
Ensembl chr16:4,105,393...4,238,362

Atp11a

ATPase, class VI, type 11A

NCBI chr 8:12,807,016...12,918,728
Ensembl chr 8:12,807,014...12,918,728

B9d2

B9 protein domain 2

NCBI chr 7:25,380,205...25,385,987
Ensembl chr 7:25,380,205...25,385,983

Brd2

bromodomain containing 2

NCBI chr17:34,330,993...34,341,581
Ensembl chr17:34,330,997...34,341,608

Cert1

ceramide transporter 1

NCBI chr13:96,679,243...96,782,362
Ensembl chr13:96,679,243...96,776,675

Gm5544

predicted gene 5544

NCBI chr 3:97,837,489...97,874,334
Ensembl chr 3:97,837,487...97,874,440

H13

histocompatibility 13

NCBI chr 2:152,511,292...152,550,590
Ensembl chr 2:152,511,381...152,550,590

Rpgrip1l

Rpgrip1-like

NCBI chr 8:91,943,658...92,039,919
Ensembl chr 8:91,943,658...92,039,890

Tcf7l2

transcription factor 7 like 2, T cell specific, HMG box

NCBI chr19:55,730,227...55,922,091
Ensembl chr19:55,730,252...55,922,086

Xpnpep1

X-prolyl aminopeptidase (aminopeptidase P) 1, soluble

NCBI chr19:52,919,710...53,027,093
Ensembl chr19:52,920,357...53,028,645

abnormal vascular branching morphogenesis

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Adgra2

adhesion G protein-coupled receptor A2

PMID:21071672 PMID:21421844

NCBI chr 8:27,575,546...27,613,464
Ensembl chr 8:27,575,611...27,613,464

Aph1a

aph1 homolog A, gamma secretase subunit

PMID:15665098

NCBI chr 3:95,801,233...95,805,904
Ensembl chr 3:95,801,281...95,805,600

Arap3

ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3

PMID:20978237

NCBI chr18:38,105,676...38,132,583
Ensembl chr18:38,105,681...38,132,022

Baiap2

brain-specific angiogenesis inhibitor 1-associated protein 2

PMID:28067313

NCBI chr11:119,833,762...119,897,608
Ensembl chr11:119,833,589...119,897,608

Bcas3

BCAS3 microtubule associated cell migration factor

PMID:29618843

NCBI chr11:85,243,611...85,716,884
Ensembl chr11:85,243,993...85,716,884

Bmpr1a

bone morphogenetic protein receptor, type 1A

PMID:16887829

NCBI chr14:34,133,018...34,225,335
Ensembl chr14:34,132,691...34,225,298

C1galt1

core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1

PMID:14745002

NCBI chr 6:7,845,224...7,872,042
Ensembl chr 6:7,844,842...7,875,687

cerebral cavernous malformation 2

NCBI chr11:6,496,887...6,546,761
Ensembl chr11:6,496,887...6,546,744

delta like canonical Notch ligand 4

PMID:15466159

NCBI chr 2:119,156,286...119,166,145
Ensembl chr 2:119,156,265...119,166,443

Ephx2

epoxide hydrolase 2, cytoplasmic

PMID:24446488

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

Ets1

E26 avian leukemia oncogene 1, 5' domain

PMID:19411629

NCBI chr 9:32,547,501...32,669,116
Ensembl chr 9:32,547,517...32,669,116

Ets2

E26 avian leukemia oncogene 2, 3' domain

PMID:19411629

NCBI chr16:95,503,274...95,522,093
Ensembl chr16:95,502,942...95,522,095

Fkbpl

FK506 binding protein-like

PMID:25767277

NCBI chr17:34,863,788...34,865,791
Ensembl chr17:34,863,738...34,865,298

forkhead box F1

NCBI chr 8:121,811,100...121,814,883
Ensembl chr 8:121,811,125...121,814,883

Gipc1

GIPC PDZ domain containing family, member 1

PMID:16740480

NCBI chr 8:84,376,037...84,391,418
Ensembl chr 8:84,379,306...84,391,323

Hacd2

3-hydroxyacyl-CoA dehydratase 2

PMID:36693621

NCBI chr16:34,842,791...34,929,560
Ensembl chr16:34,842,798...34,929,547

jagged 1

NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564

kinase insert domain protein receptor

PMID:16887829

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

Meis homeobox 1

NCBI chr11:18,830,428...18,968,992
Ensembl chr11:18,829,817...18,968,985

Myh9

myosin, heavy polypeptide 9, non-muscle

PMID:20679233

NCBI chr15:77,644,788...77,726,315
Ensembl chr15:77,644,787...77,726,375

myosin X

NCBI chr15:25,622,636...25,813,759
Ensembl chr15:25,622,611...25,813,759

Nos3

nitric oxide synthase 3, endothelial cell

PMID:15016731

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

notch 1

NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675

programmed cell death 10

NCBI chr 3:75,423,797...75,464,159
Ensembl chr 3:75,423,797...75,464,163

PTK2 protein tyrosine kinase 2

PMID:15967814

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

Ptpn12

protein tyrosine phosphatase, non-receptor type 12

PMID:17070019

NCBI chr 5:21,191,643...21,261,009
Ensembl chr 5:21,191,643...21,260,909

Ptprj

protein tyrosine phosphatase receptor type J

PMID:12588999

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

Runx1

runt related transcription factor 1

PMID:10943840

NCBI chr16:92,398,354...92,622,962
Ensembl chr16:92,398,354...92,623,037

S1pr1

sphingosine-1-phosphate receptor 1

PMID:22975327

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

Sema5a

sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A

PMID:15743826

NCBI chr15:32,244,959...32,696,487
Ensembl chr15:32,244,956...32,696,487

Snai1

snail family zinc finger 1

PMID:24894949

NCBI chr 2:167,380,115...167,384,734
Ensembl chr 2:167,380,115...167,384,734

Stk3

serine/threonine kinase 3

NCBI chr15:34,875,645...35,155,990
Ensembl chr15:34,875,642...35,179,067

Stk4

serine/threonine kinase 4

NCBI chr 2:163,916,033...163,997,444
Ensembl chr 2:163,912,242...163,997,444

TEK receptor tyrosine kinase

PMID:7596437

NCBI chr 4:94,627,322...94,763,213
Ensembl chr 4:94,627,526...94,763,213

Tie1

tyrosine kinase with immunoglobulin-like and EGF-like domains 1

PMID:9683559

NCBI chr 4:118,328,388...118,347,046
Ensembl chr 4:118,328,388...118,347,258

Timp3

tissue inhibitor of metalloproteinase 3

PMID:18408187

NCBI chr10:86,136,276...86,185,369
Ensembl chr10:86,136,236...86,185,370

vascular endothelial growth factor A

PMID:14550787 PMID:19261698

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

WNK lysine deficient protein kinase 1

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

zinc finger, MIZ-type containing 1

NCBI chr14:25,458,299...25,667,167
Ensembl chr14:25,459,609...25,667,167

abnormal vascular endothelial cell development

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

cerebral cavernous malformation 2

NCBI chr11:6,496,887...6,546,761
Ensembl chr11:6,496,887...6,546,744

cadherin 5

NCBI chr 8:104,828,247...104,871,136
Ensembl chr 8:104,828,257...104,871,143

CREB binding protein

NCBI chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861

heart development protein with EGF-like domains 1

NCBI chr16:33,504,754...33,591,946
Ensembl chr16:33,504,740...33,591,946

mitogen-activated protein kinase 7

PMID:12221099

NCBI chr11:61,379,638...61,385,101
Ensembl chr11:61,379,638...61,385,232

Med1

mediator complex subunit 1

PMID:11724781

NCBI chr11:98,042,980...98,084,121
Ensembl chr11:98,042,980...98,084,119

myocyte enhancer factor 2C

NCBI chr13:83,652,136...83,815,197
Ensembl chr13:83,652,153...83,815,199

Plcg1

phospholipase C, gamma 1

PMID:11744703

NCBI chr 2:160,573,230...160,617,680
Ensembl chr 2:160,573,220...160,617,680

Ppp3r1

protein phosphatase 3, regulatory subunit B, alpha isoform (calcineurin B, type I)

PMID:19710169

NCBI chr11:17,109,298...17,150,380
Ensembl chr11:17,109,263...17,150,375

PTK2 protein tyrosine kinase 2

PMID:12595342

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

Rasa3

RAS p21 protein activator 3

PMID:17179160

NCBI chr 8:13,617,218...13,727,590
Ensembl chr 8:13,616,948...13,727,603

Ras interacting protein 1

PMID:21396893

NCBI chr 7:45,276,961...45,288,516
Ensembl chr 7:45,276,912...45,288,517

Tie1

tyrosine kinase with immunoglobulin-like and EGF-like domains 1

PMID:9683559

NCBI chr 4:118,328,388...118,347,046
Ensembl chr 4:118,328,388...118,347,258

WASP family, member 2

NCBI chr 4:132,857,843...132,927,067
Ensembl chr 4:132,857,816...132,927,067

abnormal vascular endothelial cell differentiation

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

activin A receptor, type 1

PMID:16140292

NCBI chr 2:58,336,450...58,456,840
Ensembl chr 2:58,278,656...58,457,169

FMS-like tyrosine kinase 1

NCBI chr 5:147,498,414...147,663,419
Ensembl chr 5:147,498,414...147,662,821

Gbx2

gastrulation brain homeobox 2

PMID:15996652

NCBI chr 1:89,855,684...89,858,898
Ensembl chr 1:89,855,678...89,858,901

kinase insert domain protein receptor

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

Pofut2

protein O-fucosyltransferase 2

PMID:20637190

NCBI chr10:77,095,056...77,105,420
Ensembl chr10:77,095,052...77,105,409

Ras interacting protein 1

PMID:21396893

NCBI chr 7:45,276,961...45,288,516
Ensembl chr 7:45,276,912...45,288,517

Tgfb1

transforming growth factor, beta 1

PMID:7600998

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

vascular endothelial growth factor A

PMID:8602241

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

abnormal vascular endothelial cell migration

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Adamts7

ADAM metallopeptidase with thrombospondin type 1 motif 7

PMID:25712208

NCBI chr 9:90,041,420...90,082,155
Ensembl chr 9:90,045,122...90,090,124

annexin A1

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

Arhgef4

Rho guanine nucleotide exchange factor 4

PMID:19897489

NCBI chr 1:34,717,263...34,851,819
Ensembl chr 1:34,717,269...34,852,390

Atp2a2

ATPase, Ca++ transporting, cardiac muscle, slow twitch 2

PMID:24920669

NCBI chr 5:122,591,576...122,640,288
Ensembl chr 5:122,591,576...122,640,288

CD151 antigen

NCBI chr 7:141,047,275...141,051,394
Ensembl chr 7:141,047,305...141,051,386

CD82 antigen

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

Dock1

dedicator of cytokinesis 1

PMID:20829512

NCBI chr 7:134,272,416...134,775,376
Ensembl chr 7:134,272,383...134,775,368

Ecscr

endothelial cell surface expressed chemotaxis and apoptosis regulator

PMID:21593423

NCBI chr18:35,846,139...35,855,460
Ensembl chr18:35,846,139...35,855,409

epsin 1

NCBI chr 7:5,083,207...5,101,178
Ensembl chr 7:5,083,234...5,101,177

epsin 2

NCBI chr11:61,406,709...61,470,560
Ensembl chr11:61,408,075...61,470,513

Epor

erythropoietin receptor

PMID:16534010

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

Fgf2

fibroblast growth factor 2

PMID:17071606

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

FMS-like tyrosine kinase 1

NCBI chr 5:147,498,414...147,663,419
Ensembl chr 5:147,498,414...147,662,821

hypoxia inducible factor 1, alpha subunit

PMID:15542432

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

Hprt1

hypoxanthine phosphoribosyltransferase 1

PMID:22733797

NCBI chr X:52,076,955...52,110,537
Ensembl chr X:52,077,014...52,110,536

kinase insert domain protein receptor

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

Map2k1

mitogen-activated protein kinase kinase 1

PMID:10209122

NCBI chr 9:64,093,066...64,160,887
Ensembl chr 9:64,093,052...64,160,913

Nostrin

nitric oxide synthase trafficker

PMID:22751148

NCBI chr 2:68,966,144...69,019,674
Ensembl chr 2:68,966,144...69,019,674

Otulin

OTU deubiquitinase with linear linkage specificity

PMID:23708998

NCBI chr15:27,606,005...27,630,793
Ensembl chr15:27,542,721...27,630,779

programmed cell death 10

PMID:21321212

NCBI chr 3:75,423,797...75,464,159
Ensembl chr 3:75,423,797...75,464,163

profilin 1

NCBI chr11:70,542,670...70,547,625
Ensembl chr11:70,542,676...70,545,470

Plxnd1

plexin D1

PMID:18992737 PMID:34791216

NCBI chr 6:115,931,772...115,972,300
Ensembl chr 6:115,931,772...115,971,966

Ptk2b

PTK2 protein tyrosine kinase 2 beta

PMID:17698736

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

vav 2 oncogene

NCBI chr 2:27,152,116...27,317,620
Ensembl chr 2:27,152,116...27,317,045

vav 3 oncogene

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

abnormal vascular plexus formation

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

insulin receptor

NCBI chr 8:3,200,922...3,329,649
Ensembl chr 8:3,172,061...3,329,617

Lrp5

low density lipoprotein receptor-related protein 5

PMID:27524797

NCBI chr19:3,634,825...3,736,574
Ensembl chr19:3,634,828...3,736,564

notch 1

NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675

notch 3

NCBI chr17:32,339,794...32,385,869
Ensembl chr17:32,339,794...32,385,826

protein kinase N2

NCBI chr 3:142,496,663...142,587,765
Ensembl chr 3:142,496,663...142,587,765

Setd5

SET domain containing 5

PMID:27864380

NCBI chr 6:113,054,326...113,130,393
Ensembl chr 6:113,054,326...113,130,396

Sh3pxd2a

SH3 and PX domains 2A

NCBI chr19:47,248,613...47,453,053
Ensembl chr19:47,248,613...47,452,840

abnormal vascular regression

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

angiopoietin 2

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

Arhgef15

Rho guanine nucleotide exchange factor 15

PMID:22535667

NCBI chr11:68,819,726...68,847,760
Ensembl chr11:68,833,981...68,848,306

Arid3b

AT-rich interaction domain 3B

PMID:16530748

NCBI chr 9:57,697,636...57,744,130
Ensembl chr 9:57,697,636...57,744,076

arginyltransferase 1

NCBI chr 7:129,993,219...130,122,349
Ensembl chr 7:129,993,223...130,122,099

catenin beta 1

NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573

delta like canonical Notch ligand 4

PMID:15466159 PMID:15466160 PMID:15520367 PMID:21498671

NCBI chr 2:119,156,286...119,166,145
Ensembl chr 2:119,156,265...119,166,443

filamin, alpha

NCBI chr X:73,267,067...73,293,787
Ensembl chr X:73,267,067...73,293,426

Fzd5

frizzled class receptor 5

PMID:18791178

NCBI chr 1:64,769,717...64,776,907
Ensembl chr 1:64,769,717...64,776,910

gene trap ROSA 26, Philippe Soriano

PMID:21498671

NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,055,336

hypoxia inducible factor 1, alpha subunit

PMID:14659802

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

Hpgd

hydroxyprostaglandin dehydrogenase 15 (NAD)

PMID:11821873

NCBI chr 8:56,747,587...56,774,081
Ensembl chr 8:56,747,620...56,774,078

Lef1

lymphoid enhancer binding factor 1

PMID:19154719

NCBI chr 3:130,903,972...131,018,006
Ensembl chr 3:130,904,120...131,018,005

mitogen-activated protein kinase kinase kinase 7

PMID:16556914

NCBI chr 4:31,963,659...32,023,470
Ensembl chr 4:31,964,097...32,023,467

Mib1

MIB E3 ubiquitin protein ligase 1

PMID:16000382 PMID:18043734

NCBI chr18:10,725,523...10,822,969
Ensembl chr18:10,725,548...10,818,704

Myh11

myosin, heavy polypeptide 11, smooth muscle

PMID:10854329

NCBI chr16:14,012,392...14,109,227
Ensembl chr16:14,012,399...14,109,236

Nrarp

Notch-regulated ankyrin repeat protein

PMID:19154719

NCBI chr 2:25,070,770...25,073,351
Ensembl chr 2:25,070,770...25,073,351

Numb

NUMB endocytic adaptor protein

PMID:11412999

NCBI chr12:83,840,808...83,968,708
Ensembl chr12:83,840,808...83,968,708

Ptger4

prostaglandin E receptor 4 (subtype EP4)

PMID:9363893

NCBI chr15:5,262,880...5,273,668
Ensembl chr15:5,236,142...5,273,668

PTK2 protein tyrosine kinase 2

PMID:16391003

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

Ptprb

protein tyrosine phosphatase receptor type B

PMID:17360632

NCBI chr10:116,111,407...116,225,443
Ensembl chr10:116,111,428...116,225,440