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ONTOLOGY REPORT - ANNOTATIONS


Term:aortic disease
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Accession:DOID:520 term browser browse the term
Definition:Pathological processes involving any part of the AORTA.
Synonyms:exact_synonym: Aortopathy;   Familial Aortopathy;   aortic diseases;   aortic disorder;   disorder of the aorta
 primary_id: MESH:D001018
 alt_id: RDO:0003170
 xref: NCI:C101253
For additional species annotation, visit the Alliance of Genome Resources.


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aortic disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acta2 actin alpha 2, smooth muscle JBrowse link 1 252,537,614 252,550,394 RGD:8554872
G Ager advanced glycosylation end product-specific receptor JBrowse link 20 4,363,152 4,366,079 RGD:7245538
G Cat catalase JBrowse link 3 93,379,872 93,412,058 RGD:11554173
G Col3a1 collagen type III alpha 1 chain JBrowse link 9 52,023,295 52,059,221 RGD:8554872
G Col5a2 collagen type V alpha 2 chain JBrowse link 9 52,091,088 52,238,735 RGD:8554872
G Lamc1 laminin subunit gamma 1 JBrowse link 13 70,656,727 70,783,515 RGD:11554173
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:11554173
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:11554173
G Myh11 myosin heavy chain 11 JBrowse link 10 764,421 859,184 RGD:8554872
G Nde1 nudE neurodevelopment protein 1 JBrowse link 10 860,513 904,624 RGD:8554872
G Smad3 SMAD family member 3 JBrowse link 8 68,569,530 68,678,349 RGD:8554872
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:11062588
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:11554173
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
G Vcam1 vascular cell adhesion molecule 1 JBrowse link 2 219,071,193 219,090,931 RGD:2313112
abdominal aortic aneurysm term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:11039028
G Ace2 angiotensin I converting enzyme 2 JBrowse link X 32,050,734 32,095,860 RGD:11554173
G Adm adrenomedullin JBrowse link 1 175,443,189 175,447,260 RGD:1625299
G Agt angiotensinogen JBrowse link 19 57,321,594 57,333,460 RGD:11554173
G Agtr1a angiotensin II receptor, type 1a JBrowse link 17 35,907,102 35,958,136 RGD:5147451
RGD:11554173
G Apoe apolipoprotein E JBrowse link 1 80,612,894 80,616,820 RGD:1578483
RGD:6903247
G Cav1 caveolin 1 JBrowse link 4 44,597,123 44,630,206 RGD:8661789
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:2307015
G Col11a1 collagen type XI alpha 1 chain JBrowse link 2 216,863,423 217,056,523 RGD:8554872
G Crp C-reactive protein JBrowse link 13 91,080,448 91,081,358 RGD:13782270
G Csf2 colony stimulating factor 2 JBrowse link 10 39,602,089 39,604,070 RGD:10450246
G Dab2ip DAB2 interacting protein JBrowse link 3 14,889,263 15,060,286 RGD:11554173
G Ehf ets homologous factor JBrowse link 3 93,176,257 93,216,484 RGD:1581123
G Eln elastin JBrowse link 12 24,978,478 25,021,864 RGD:1580157
RGD:9585668
G Ftl1 ferritin light chain 1 JBrowse link 1 101,448,190 101,450,034 RGD:8554872
G Gys1 glycogen synthase 1 JBrowse link 1 101,427,195 101,447,092 RGD:8554872
G Hmox1 heme oxygenase 1 JBrowse link 19 14,508,634 14,515,455 RGD:1580455
G Itgav integrin subunit alpha V JBrowse link 3 71,113,269 71,205,958 RGD:1582446
G Lox lysyl oxidase JBrowse link 18 47,500,320 47,577,819 RGD:1581887
G Mapk8 mitogen-activated protein kinase 8 JBrowse link 16 9,620,854 9,709,342 RGD:1582313
G Mmp1 matrix metallopeptidase 1 JBrowse link 8 5,703,206 5,723,593 RGD:1582519
G Mmp12 matrix metallopeptidase 12 JBrowse link 8 5,594,717 5,616,494 RGD:1582355
RGD:1582356
G Mmp13 matrix metallopeptidase 13 JBrowse link 8 5,522,739 5,533,018 RGD:1580157
RGD:1582548
G Mmp14 matrix metallopeptidase 14 JBrowse link 15 33,074,441 33,083,666 RGD:1582579
RGD:11554173
RGD:1582584
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:2325698
RGD:13207313
RGD:8657104
RGD:1302825
RGD:1582621
RGD:1582579
G Mmp3 matrix metallopeptidase 3 JBrowse link 8 5,676,608 5,698,579 RGD:1302825
G Mmp8 matrix metallopeptidase 8 JBrowse link 8 5,768,808 5,777,741 RGD:1582641
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:1582641
RGD:13207313
RGD:11554173
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:6893584
G Myh11 myosin heavy chain 11 JBrowse link 10 764,421 859,184 RGD:13782270
G Mylk myosin light chain kinase JBrowse link 11 69,013,060 69,260,039 RGD:8554872
G Ncf1 neutrophil cytosolic factor 1 JBrowse link 12 25,497,104 25,506,300 RGD:11554173
G Nos2 nitric oxide synthase 2 JBrowse link 10 66,188,290 66,221,621 RGD:1580261
G P2ry12 purinergic receptor P2Y12 JBrowse link 2 149,440,807 149,482,592 RGD:6480528
G Parp1 poly (ADP-ribose) polymerase 1 JBrowse link 13 98,857,255 98,889,444 RGD:11554173
G Pla2g7 phospholipase A2 group VII JBrowse link 9 19,935,754 19,978,013 RGD:1581024
G Postn periostin JBrowse link 2 143,656,820 143,688,087 RGD:10041046
G Ptgs2 prostaglandin-endoperoxide synthase 2 JBrowse link 13 67,351,230 67,356,920 RGD:11554173
G RT1-Ba RT1 class II, locus Ba JBrowse link 20 4,066,133 4,070,726 RGD:5147824
G RT1-Db1 RT1 class II, locus Db1 JBrowse link 20 4,087,621 4,097,190 RGD:5147825
G Sell selectin L JBrowse link 13 82,369,820 82,387,774 RGD:5685707
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:4144856
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:1625699
RGD:11554173
G Timp4 TIMP metallopeptidase inhibitor 4 JBrowse link 4 147,156,948 147,163,467 RGD:1302825
aortic aneurysm term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agt angiotensinogen JBrowse link 19 57,321,594 57,333,460 RGD:11554173
G Alox5 arachidonate 5-lipoxygenase JBrowse link 4 148,398,004 148,446,308 RGD:1626150
G Aoc3 amine oxidase, copper containing 3 JBrowse link 10 89,251,370 89,259,313 RGD:2313928
G Atp7a ATPase copper transporting alpha JBrowse link X 77,076,085 77,193,644 RGD:13592920
G Col3a1 collagen type III alpha 1 chain JBrowse link 9 52,023,295 52,059,221 RGD:8554872
G Col5a1 collagen type V alpha 1 chain JBrowse link 3 6,430,180 6,581,010 RGD:8554872
G Efemp2 EGF containing fibulin extracellular matrix protein 2 JBrowse link 1 220,853,695 220,861,420 RGD:13592920
G Eln elastin JBrowse link 12 24,978,478 25,021,864 RGD:9585744
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:1300362
RGD:8554872
RGD:7365039
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:8554872
G Hdac4 histone deacetylase 4 JBrowse link 9 99,052,945 99,299,715 RGD:9681448
G Klf15 Kruppel-like factor 15 JBrowse link 4 122,364,688 122,377,690 RGD:13592920
G Lox lysyl oxidase JBrowse link 18 47,500,320 47,577,819 RGD:1581885
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:11554173
G Myh11 myosin heavy chain 11 JBrowse link 10 764,421 859,184 RGD:8554872
G Mylk myosin light chain kinase JBrowse link 11 69,013,060 69,260,039 RGD:8554872
G Nde1 nudE neurodevelopment protein 1 JBrowse link 10 860,513 904,624 RGD:8554872
G Ptger4 prostaglandin E receptor 4 JBrowse link 2 54,951,625 54,966,470 RGD:6483518
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:8547863
G Ski SKI proto-oncogene JBrowse link 5 172,556,196 172,623,878 RGD:11554173
G Smad3 SMAD family member 3 JBrowse link 8 68,569,530 68,678,349 RGD:11554173
G Tgfb2 transforming growth factor, beta 2 JBrowse link 13 105,039,639 105,142,010 RGD:8554872
G Tgfbr1 transforming growth factor, beta receptor 1 JBrowse link 5 63,056,071 63,119,635 RGD:2299005
G Tgfbr2 transforming growth factor, beta receptor 2 JBrowse link 8 124,310,288 124,399,345 RGD:2299005
RGD:11554173
Aortic Aneurysm, Familial Abdominal 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mylk myosin light chain kinase JBrowse link 11 69,013,060 69,260,039 RGD:8554872
Aortic Aneurysm, Giant Congenital term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link 4 67,389,331 67,520,549 RGD:8554872
aortic atherosclerosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apoe apolipoprotein E JBrowse link 1 80,612,894 80,616,820 RGD:13703129
G Capn1 calpain 1 JBrowse link 1 221,346,081 221,370,965 RGD:13792498
Aortic Dissections term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:8554872
G Foxe3 forkhead box E3 JBrowse link 5 133,724,796 133,725,656 RGD:8554872
G Ldlr low density lipoprotein receptor JBrowse link 8 22,750,425 22,773,305 RGD:8554872
G Lox lysyl oxidase JBrowse link 18 47,500,320 47,577,819 RGD:8554872
G Mylk myosin light chain kinase JBrowse link 11 69,013,060 69,260,039 RGD:8554872
G Srfbp1 serum response factor binding protein 1 JBrowse link 18 47,456,406 47,478,967 RGD:8554872
Aortic Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcmt1 protein-L-isoaspartate (D-aspartate) O-methyltransferase 1 JBrowse link 1 1,734,863 1,767,759 RGD:10448925
G Vwf von Willebrand factor JBrowse link 4 158,085,059 158,219,525 RGD:11079230
Aortic Rupture term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp7a ATPase copper transporting alpha JBrowse link X 77,076,085 77,193,644 RGD:11554173
G Edn2 endothelin 2 JBrowse link 5 139,098,472 139,106,396 RGD:1580915
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:11554173
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:11554173
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:11554173
G Npr1 natriuretic peptide receptor 1 JBrowse link 2 189,840,403 189,857,032 RGD:737701
G Vkorc1 vitamin K epoxide reductase complex, subunit 1 JBrowse link 1 199,338,785 199,341,306 RGD:11554173
aortic valve disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col5a1 collagen type V alpha 1 chain JBrowse link 3 6,430,180 6,581,010 RGD:8554872
G Dsg1 desmoglein 1 JBrowse link 18 12,008,301 12,040,337 RGD:8554872
G Egfr epidermal growth factor receptor JBrowse link 14 99,919,485 100,104,136 RGD:13592920
G Eln elastin JBrowse link 12 24,978,478 25,021,864 RGD:13592920
G Gata5 GATA binding protein 5 JBrowse link 3 175,701,278 175,709,465 RGD:8554872
G Hey2 hes-related family bHLH transcription factor with YRPW motif 2 JBrowse link 1 29,191,170 29,201,257 RGD:13592920
G Mybpc3 myosin binding protein C3 JBrowse link 3 79,940,509 79,958,731 RGD:8554872
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
G Nos3 nitric oxide synthase 3 JBrowse link 4 7,321,908 7,342,404 RGD:13592920
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:8554872
G Rbpj recombination signal binding protein for immunoglobulin kappa J region JBrowse link 14 59,657,738 59,865,427 RGD:13592920
G Robo4 roundabout guidance receptor 4 JBrowse link 8 39,082,693 39,093,344 RGD:8554872
G Smad6 SMAD family member 6 JBrowse link 8 68,897,746 68,967,221 RGD:8554872
G Tbx20 T-box transcription factor 20 JBrowse link 8 25,849,394 25,904,570 RGD:8554872
G Tnni3 troponin I3, cardiac type JBrowse link 1 72,882,806 72,886,490 RGD:8554872
G Tpm1 tropomyosin 1 JBrowse link 8 72,814,737 72,841,496 RGD:8554872
aortic valve disease 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col5a1 collagen type V alpha 1 chain JBrowse link 3 6,430,180 6,581,010 RGD:8554872
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 JBrowse link 1 21,748,201 21,813,205 RGD:12914785
G Gata5 GATA binding protein 5 JBrowse link 3 175,701,278 175,709,465 RGD:8554872
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:12792206
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:1580758
RGD:8554872
RGD:7240710
G Smad6 SMAD family member 6 JBrowse link 8 68,897,746 68,967,221 RGD:8554872
G Tbx20 T-box transcription factor 20 JBrowse link 8 25,849,394 25,904,570 RGD:8554872
aortic valve disease 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:12791292
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:13204802
G Nkx2-5 NK2 homeobox 5 JBrowse link 10 16,635,989 16,638,758 RGD:12914790
RGD:12914791
G Smad6 SMAD family member 6 JBrowse link 8 68,897,746 68,967,221 RGD:7240710
RGD:8554872
G Tbx5 T-box transcription factor 5 JBrowse link 12 42,059,688 42,148,226 RGD:8554872
Aortic Valve Disease 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Robo4 roundabout guidance receptor 4 JBrowse link 8 39,082,693 39,093,344 RGD:7240710
RGD:8554872
aortic valve insufficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccn2 cellular communication network factor 2 JBrowse link 1 21,851,657 21,854,773 RGD:2314539
RGD:11554173
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:11554173
G Col3a1 collagen type III alpha 1 chain JBrowse link 9 52,023,295 52,059,221 RGD:11554173
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:8554872
G Fn1 fibronectin 1 JBrowse link 9 78,900,111 78,969,018 RGD:11554173
G Fstl1 follistatin-like 1 JBrowse link 11 65,791,196 65,845,721 RGD:11554173
G Lox lysyl oxidase JBrowse link 18 47,500,320 47,577,819 RGD:11554173
G Mbl2 mannose binding lectin 2 JBrowse link 1 248,435,069 248,442,669 RGD:12910860
G Nppa natriuretic peptide A JBrowse link 5 164,808,407 164,809,716 RGD:11554173
G Nppb natriuretic peptide B JBrowse link 5 164,796,176 164,797,538 RGD:11554173
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11554173
G Tgfb2 transforming growth factor, beta 2 JBrowse link 13 105,039,639 105,142,010 RGD:11554173
G Timp1 TIMP metallopeptidase inhibitor 1 JBrowse link X 1,364,771 1,369,451 RGD:11554173
aortic valve stenosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adrb1 adrenoceptor beta 1 JBrowse link 1 277,537,585 277,538,985 RGD:7241565
G Apob apolipoprotein B JBrowse link 6 33,176,826 33,216,381 RGD:1578425
G Bambi BMP and activin membrane-bound inhibitor JBrowse link 17 56,905,419 56,909,675 RGD:14390160
G Egfr epidermal growth factor receptor JBrowse link 14 99,919,485 100,104,136 RGD:734918
G Egr1 early growth response 1 JBrowse link 18 27,657,903 27,660,101 RGD:1626496
G Eln elastin JBrowse link 12 24,978,478 25,021,864 RGD:1580327
G Eno3 enolase 3 JBrowse link 10 57,278,271 57,283,661 RGD:2301765
G Esr2 estrogen receptor 2 JBrowse link 6 99,163,953 99,214,711 RGD:1580704
G Jarid2 jumonji and AT-rich interaction domain containing 2 JBrowse link 17 20,183,440 20,365,219 RGD:9586018
G Lgals3 galectin 3 JBrowse link 15 24,153,602 24,165,537 RGD:9685214
G Mmp1 matrix metallopeptidase 1 JBrowse link 8 5,703,206 5,723,593 RGD:1582522
G Nppc natriuretic peptide C JBrowse link 9 93,731,436 93,735,636 RGD:1642267
G Ogt O-linked N-acetylglucosamine (GlcNAc) transferase JBrowse link X 71,540,870 71,585,906 RGD:9590202
G Ppp3cb protein phosphatase 3 catalytic subunit beta JBrowse link 15 4,209,702 4,236,895 RGD:1580704
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:734918
G Smad6 SMAD family member 6 JBrowse link 8 68,897,746 68,967,221 RGD:8554872
G Tbx5 T-box transcription factor 5 JBrowse link 12 42,059,688 42,148,226 RGD:8554872
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:13592920
G Tnfrsf11b TNF receptor superfamily member 11B JBrowse link 7 93,798,580 93,826,586 RGD:7205491
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:1580365
Aortic Valve, Calcification of term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt1 AKT serine/threonine kinase 1 JBrowse link 6 137,218,398 137,239,970 RGD:11554173
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:11352276
G Col5a1 collagen type V alpha 1 chain JBrowse link 3 6,430,180 6,581,010 RGD:8554872
G Gata5 GATA binding protein 5 JBrowse link 3 175,701,278 175,709,465 RGD:8554872
G Hspd1 heat shock protein family D (Hsp60) member 1 JBrowse link 9 61,680,529 61,691,202 RGD:12910476
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:11554173
RGD:8554872
G Ptgs2 prostaglandin-endoperoxide synthase 2 JBrowse link 13 67,351,230 67,356,920 RGD:13207434
G Pth parathyroid hormone JBrowse link 1 178,215,829 178,218,761 RGD:7242900
G Slc20a1 solute carrier family 20 member 1 JBrowse link 3 121,725,204 121,739,160 RGD:11554173
G Smad6 SMAD family member 6 JBrowse link 8 68,897,746 68,967,221 RGD:8554872
G Tbx20 T-box transcription factor 20 JBrowse link 8 25,849,394 25,904,570 RGD:8554872
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:11554173
Apical Hypertrophic Cardiomyopathy and Neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mt-atp6 mitochondrially encoded ATP synthase 6 JBrowse link MT 7,919 8,599 RGD:8554872
G Mt-atp8 mitochondrially encoded ATP synthase 8 JBrowse link MT 7,758 7,961 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo6 myosin VI JBrowse link 8 87,583,649 87,731,271 RGD:7240710
RGD:8554872
bicuspid aortic valve disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actc1 actin, alpha, cardiac muscle 1 JBrowse link 3 105,507,403 105,512,939 RGD:8554872
G Csrp3 cysteine and glycine rich protein 3 JBrowse link 1 104,147,205 104,166,389 RGD:8554872
G Dsg1 desmoglein 1 JBrowse link 18 12,008,301 12,040,337 RGD:8554872
G Dsp desmoplakin JBrowse link 17 27,286,811 27,334,453 RGD:8554872
G Mt-atp6 mitochondrially encoded ATP synthase 6 JBrowse link MT 7,919 8,599 RGD:8554872
G Mt-atp8 mitochondrially encoded ATP synthase 8 JBrowse link MT 7,758 7,961 RGD:8554872
G Mybpc3 myosin binding protein C3 JBrowse link 3 79,940,509 79,958,731 RGD:8554872
G Myh11 myosin heavy chain 11 JBrowse link 10 764,421 859,184 RGD:8554872
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
G Myl3 myosin light chain 3 JBrowse link 8 119,030,852 119,036,996 RGD:8554872
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:8554872
RGD:11554173
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 JBrowse link 4 6,559,153 6,799,888 RGD:8554872
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:8554872
G Rbm20 RNA binding motif protein 20 JBrowse link 1 274,391,932 274,589,816 RGD:8554872
G Robo4 roundabout guidance receptor 4 JBrowse link 8 39,082,693 39,093,344 RGD:11554173
RGD:8554872
G Slc2a10 solute carrier family 2 member 10 JBrowse link 3 162,182,156 162,194,610 RGD:8554872
G Smad6 SMAD family member 6 JBrowse link 8 68,897,746 68,967,221 RGD:11554173
RGD:8554872
G Tbx5 T-box transcription factor 5 JBrowse link 12 42,059,688 42,148,226 RGD:8554872
G Tnni3 troponin I3, cardiac type JBrowse link 1 72,882,806 72,886,490 RGD:8554872
G Tnnt2 troponin T2, cardiac type JBrowse link 13 52,662,974 52,680,992 RGD:8554872
G Tpm1 tropomyosin 1 JBrowse link 8 72,814,737 72,841,496 RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
dilated cardiomyopathy 1KK term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mybpc3 myosin binding protein C3 JBrowse link 3 79,940,509 79,958,731 RGD:8554872
G Mypn myopalladin JBrowse link 20 26,988,820 27,074,106 RGD:8554872
RGD:7240710
familial hypertrophic cardiomyopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc9 ATP binding cassette subfamily C member 9 JBrowse link 4 176,806,098 176,928,540 RGD:8554872
G Acadvl acyl-CoA dehydrogenase, very long chain JBrowse link 10 56,619,321 56,624,468 RGD:8554872
G Actc1 actin, alpha, cardiac muscle 1 JBrowse link 3 105,507,403 105,512,939 RGD:8554872
G Actn2 actinin alpha 2 JBrowse link 17 66,304,530 66,397,647 RGD:8554872
G Alpk3 alpha-kinase 3 JBrowse link 1 142,882,997 142,931,940 RGD:8554872
G Ankrd1 ankyrin repeat domain 1 JBrowse link 1 254,726,985 254,745,673 RGD:8554872
G Bag3 BAG cochaperone 3 JBrowse link 1 199,941,258 199,965,191 RGD:8554872
G Calm3 calmodulin 3 JBrowse link 1 78,844,520 78,851,628 RGD:13792494
G Calr3 calreticulin 3 JBrowse link 16 19,097,391 19,124,062 RGD:8554872
G Cav3 caveolin 3 JBrowse link 4 144,382,945 144,398,919 RGD:8554872
G Cep85l centrosomal protein 85-like JBrowse link 20 34,574,043 34,743,142 RGD:8554872
G Comt catechol-O-methyltransferase JBrowse link 11 86,715,981 86,735,630 RGD:8554872
G Cryab crystallin, alpha B JBrowse link 8 55,178,543 55,182,546 RGD:8554872
G Csrp3 cysteine and glycine rich protein 3 JBrowse link 1 104,147,205 104,166,389 RGD:8554872
G Ctf1 cardiotrophin 1 JBrowse link 1 199,162,319 199,168,296 RGD:8554872
G Ctnna3 catenin alpha 3 JBrowse link 20 25,063,124 26,640,428 RGD:8554872
G Des desmin JBrowse link 9 82,556,574 82,564,288 RGD:8554872
G Dlg4 discs large MAGUK scaffold protein 4 JBrowse link 10 56,625,845 56,655,543 RGD:8554872
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Dnaaf3 dynein, axonemal, assembly factor 3 JBrowse link 1 72,874,131 72,882,867 RGD:8554872
G Dsc2 desmocollin 2 JBrowse link 18 11,826,705 11,858,801 RGD:8554872
G Dsg2 desmoglein 2 JBrowse link 18 15,579,322 15,637,720 RGD:8554872
G Dsp desmoplakin JBrowse link 17 27,286,811 27,334,453 RGD:8554872
G Dtna dystrobrevin, alpha JBrowse link 18 14,544,725 14,671,514 RGD:8554872
G Emd emerin JBrowse link X 156,452,847 156,455,858 RGD:8554872
G Eya4 EYA transcriptional coactivator and phosphatase 4 JBrowse link 1 23,237,617 23,611,580 RGD:8554872
G Fhl1 four and a half LIM domains 1 JBrowse link X 159,112,516 159,172,528 RGD:8554872
G Fhl2 four and a half LIM domains 2 JBrowse link 9 49,920,611 49,994,906 RGD:8554872
G Flnc filamin C JBrowse link 4 56,710,934 56,738,779 RGD:8554872
G Gla galactosidase, alpha JBrowse link X 105,405,915 105,417,331 RGD:8554872
G Gpd1l glycerol-3-phosphate dehydrogenase 1-like JBrowse link 8 122,957,570 122,987,236 RGD:8554872
G Ilk integrin-linked kinase JBrowse link 1 170,578,941 170,585,192 RGD:8554872
G Jph2 junctophilin 2 JBrowse link 3 159,709,998 159,776,536 RGD:8554872
G Jup junction plakoglobin JBrowse link 10 88,280,517 88,307,451 RGD:8554872
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 JBrowse link 11 32,434,786 32,447,264 RGD:8554872
G Kcnh2 potassium voltage-gated channel subfamily H member 2 JBrowse link 4 7,355,066 7,387,282 RGD:8554872
G Lama4 laminin subunit alpha 4 JBrowse link 20 44,060,715 44,201,966 RGD:8554872
G Lamp2 lysosomal-associated membrane protein 2 JBrowse link X 124,722,628 124,766,079 RGD:8554872
G Ldb3 LIM domain binding 3 JBrowse link 16 10,878,348 10,943,016 RGD:8554872
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
G Mib1 mindbomb E3 ubiquitin protein ligase 1 JBrowse link 18 1,970,914 2,094,920 RGD:8554872
G Mybpc3 myosin binding protein C3 JBrowse link 3 79,940,509 79,958,731 RGD:1580239
RGD:8554872
RGD:11554173
RGD:1580237
RGD:1580234
RGD:1580238
G Myh6 myosin heavy chain 6 JBrowse link 15 33,605,653 33,629,730 RGD:8554872
RGD:11065341
RGD:11554173
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
RGD:11554173
G Myl2 myosin light chain 2 JBrowse link 12 39,951,863 39,959,065 RGD:8554872
RGD:11554173
RGD:1580241
RGD:1580240
G Myl3 myosin light chain 3 JBrowse link 8 119,030,852 119,036,996 RGD:8554872
G Myl9 myosin light chain 9 JBrowse link 3 152,857,573 152,863,961 RGD:1582589
G Mylk2 myosin light chain kinase 2 JBrowse link 3 148,386,185 148,397,851 RGD:8554872
G Myom1 myomesin 1 JBrowse link 9 119,353,840 119,469,196 RGD:8554872
G Myoz2 myozenin 2 JBrowse link 2 227,180,887 227,207,629 RGD:8554872
G Mypn myopalladin JBrowse link 20 26,988,820 27,074,106 RGD:8554872
G Nebl nebulette JBrowse link 17 84,141,014 84,247,038 RGD:8554872
G Nexn nexilin (F actin binding protein) JBrowse link 2 257,452,937 257,484,607 RGD:8554872
G Pdlim3 PDZ and LIM domain 3 JBrowse link 16 49,543,140 49,574,362 RGD:8554872
G Pkp2 plakophilin 2 JBrowse link 11 88,912,163 88,972,213 RGD:8554872
G Pln phospholamban JBrowse link 20 34,633,157 34,642,904 RGD:8554872
G Prdm16 PR/SET domain 16 JBrowse link 5 171,662,277 171,711,561 RGD:8554872
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 JBrowse link 4 6,559,153 6,799,888 RGD:8554872
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase JBrowse link 4 147,532,040 147,592,769 RGD:8554872
G Rbm20 RNA binding motif protein 20 JBrowse link 1 274,391,932 274,589,816 RGD:8554872
G Ryr2 ryanodine receptor 2 JBrowse link 17 65,533,998 65,955,606 RGD:8554872
G Scn5a sodium voltage-gated channel alpha subunit 5 JBrowse link 8 128,169,191 128,266,681 RGD:8554872
G Shoc2 SHOC2 leucine-rich repeat scaffold protein JBrowse link 1 274,700,621 274,751,195 RGD:8554872
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 JBrowse link 6 3,105,443 3,182,977 RGD:8554872
G Taf10 TATA-box binding protein associated factor 10 JBrowse link 1 170,585,160 170,586,428 RGD:8554872
G Taz tafazzin JBrowse link X 156,421,006 156,429,461 RGD:8554872
G Tcap titin-cap JBrowse link 10 86,337,705 86,338,414 RGD:8554872
G Tmem43 transmembrane protein 43 JBrowse link 4 123,118,468 123,133,610 RGD:8554872
G Tmpo thymopoietin JBrowse link 7 31,847,412 31,872,416 RGD:8554872
G Tnni3 troponin I3, cardiac type JBrowse link 1 72,882,806 72,886,490 RGD:8554872
RGD:11554173
G Tnnt1 troponin T1, slow skeletal type JBrowse link 1 72,889,270 72,899,629 RGD:8554872
G Tnnt2 troponin T2, cardiac type JBrowse link 13 52,662,974 52,680,992 RGD:1559062
RGD:8554872
RGD:11554173
G Tpm1 tropomyosin 1 JBrowse link 8 72,814,737 72,841,496 RGD:1580447
RGD:8554872
RGD:11554173
G Trim63 tripartite motif containing 63 JBrowse link 5 152,533,362 152,547,138 RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
G Ttr transthyretin JBrowse link 18 15,532,963 15,542,180 RGD:8554872
G Txnrd2 thioredoxin reductase 2 JBrowse link 11 86,667,994 86,716,063 RGD:8554872
G Vcl vinculin JBrowse link 15 3,455,211 3,544,738 RGD:8554872
FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Calr3 calreticulin 3 JBrowse link 16 19,097,391 19,124,062 RGD:8554872
Familial Thoracic Aortic Aneurysm 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col3a1 collagen type III alpha 1 chain JBrowse link 9 52,023,295 52,059,221 RGD:8554872
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:8554872
G Foxe3 forkhead box E3 JBrowse link 5 133,724,796 133,725,656 RGD:8554872
G Lox lysyl oxidase JBrowse link 18 47,500,320 47,577,819 RGD:8554872
G Myh11 myosin heavy chain 11 JBrowse link 10 764,421 859,184 RGD:8554872
G Mylk myosin light chain kinase JBrowse link 11 69,013,060 69,260,039 RGD:8554872
G Nde1 nudE neurodevelopment protein 1 JBrowse link 10 860,513 904,624 RGD:8554872
G Smad3 SMAD family member 3 JBrowse link 8 68,569,530 68,678,349 RGD:8554872
G Srfbp1 serum response factor binding protein 1 JBrowse link 18 47,456,406 47,478,967 RGD:8554872
G Tgfbr2 transforming growth factor, beta receptor 2 JBrowse link 8 124,310,288 124,399,345 RGD:8554872
Familial Thoracic Aortic Aneurysm 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lox lysyl oxidase JBrowse link 18 47,500,320 47,577,819 RGD:8554872
RGD:7240710
G Srfbp1 serum response factor binding protein 1 JBrowse link 18 47,456,406 47,478,967 RGD:8554872
Familial Thoracic Aortic Aneurysm 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxe3 forkhead box E3 JBrowse link 5 133,724,796 133,725,656 RGD:8554872
RGD:11554173
RGD:7240710
Familial Thoracic Aortic Aneurysm 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acta2 actin alpha 2, smooth muscle JBrowse link 1 252,537,614 252,550,394 RGD:8554872
G Col3a1 collagen type III alpha 1 chain JBrowse link 9 52,023,295 52,059,221 RGD:8554872
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:8554872
G Fbn2 fibrillin 2 JBrowse link 18 53,068,495 53,272,254 RGD:8554872
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:8554872
G Slc2a10 solute carrier family 2 member 10 JBrowse link 3 162,182,156 162,194,610 RGD:8554872
Familial Thoracic Aortic Aneurysm 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh11 myosin heavy chain 11 JBrowse link 10 764,421 859,184 RGD:7240710
RGD:8554872
G Nde1 nudE neurodevelopment protein 1 JBrowse link 10 860,513 904,624 RGD:8554872
Familial Thoracic Aortic Aneurysm 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acta2 actin alpha 2, smooth muscle JBrowse link 1 252,537,614 252,550,394 RGD:7240710
RGD:8554872
G Myh11 myosin heavy chain 11 JBrowse link 10 764,421 859,184 RGD:8554872
G Mylk myosin light chain kinase JBrowse link 11 69,013,060 69,260,039 RGD:8554872
G Nde1 nudE neurodevelopment protein 1 JBrowse link 10 860,513 904,624 RGD:8554872
G Slc2a10 solute carrier family 2 member 10 JBrowse link 3 162,182,156 162,194,610 RGD:8554872
G Tgfbr1 transforming growth factor, beta receptor 1 JBrowse link 5 63,056,071 63,119,635 RGD:8554872
Familial Thoracic Aortic Aneurysm 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mylk myosin light chain kinase JBrowse link 11 69,013,060 69,260,039 RGD:7240710
RGD:8554872
Familial Thoracic Aortic Aneurysm 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prkg1 protein kinase cGMP-dependent 1 JBrowse link 1 248,982,039 250,300,952 RGD:7240710
RGD:8554872
Familial Thoracic Aortic Aneurysm 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mfap5 microfibril associated protein 5 JBrowse link 4 155,313,671 155,336,228 RGD:7240710
RGD:8554872
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ncaph2 non-SMC condensin II complex, subunit H2 JBrowse link 7 130,326,597 130,343,655 RGD:8554872
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coa5 cytochrome C oxidase assembly factor 5 JBrowse link 9 44,011,471 44,024,876 RGD:11554173
G Coa6 cytochrome c oxidase assembly factor 6 JBrowse link 19 59,327,328 59,333,706 RGD:11554173
G Cox15 cytochrome c oxidase assembly homolog COX15 JBrowse link 1 263,494,850 263,511,510 RGD:11554173
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cox15 cytochrome c oxidase assembly homolog COX15 JBrowse link 1 263,494,850 263,511,510 RGD:8554872
RGD:7240710
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coa5 cytochrome C oxidase assembly factor 5 JBrowse link 9 44,011,471 44,024,876 RGD:8554872
RGD:7240710
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coa6 cytochrome c oxidase assembly factor 6 JBrowse link 19 59,327,328 59,333,706 RGD:8554872
RGD:7240710
hypertrophic cardiomyopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:1566491
G Acp2 acid phosphatase 2, lysosomal JBrowse link 3 80,020,346 80,030,365 RGD:8554872
G Actc1 actin, alpha, cardiac muscle 1 JBrowse link 3 105,507,403 105,512,939 RGD:8554872
G Actn2 actinin alpha 2 JBrowse link 17 66,304,530 66,397,647 RGD:8554872
G Adgrl4 adhesion G protein-coupled receptor L4 JBrowse link 2 256,609,787 256,724,642 RGD:13838662
G Adm adrenomedullin JBrowse link 1 175,443,189 175,447,260 RGD:1625294
G Agt angiotensinogen JBrowse link 19 57,321,594 57,333,460 RGD:1566491
RGD:13432163
G Akap6 A-kinase anchoring protein 6 JBrowse link 6 73,553,111 73,991,992 RGD:11251930
G Akap9 A-kinase anchoring protein 9 JBrowse link 4 27,195,346 27,331,582 RGD:8554872
G Alpk3 alpha-kinase 3 JBrowse link 1 142,882,997 142,931,940 RGD:8554872
G Ank2 ankyrin 2 JBrowse link 2 231,224,643 231,522,655 RGD:8554872
G Ankrd1 ankyrin repeat domain 1 JBrowse link 1 254,726,985 254,745,673 RGD:5133276
RGD:8554872
G Arfgap2 ADP-ribosylation factor GTPase activating protein 2 JBrowse link 3 80,081,541 80,093,659 RGD:8554872
G Bag3 BAG cochaperone 3 JBrowse link 1 199,941,258 199,965,191 RGD:8554872
G Bcl2 BCL2, apoptosis regulator JBrowse link 13 26,605,426 26,769,374 RGD:11558015
RGD:13792650
G Becn1 beclin 1 JBrowse link 10 89,209,944 89,225,297 RGD:11558015
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link 4 67,389,331 67,520,549 RGD:8554872
G Cacna1c calcium voltage-gated channel subunit alpha1 C JBrowse link 4 150,635,808 151,270,790 RGD:8554872
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 JBrowse link 17 81,673,862 82,019,219 RGD:13513985
RGD:8554872
G Calr3 calreticulin 3 JBrowse link 16 19,097,391 19,124,062 RGD:8554872
G Capn2 calpain 2 JBrowse link 13 100,878,649 100,928,811 RGD:13792650
G Casp3 caspase 3 JBrowse link 16 48,845,011 48,863,249 RGD:2293330
G Cav1 caveolin 1 JBrowse link 4 44,597,123 44,630,206 RGD:13592920
G Cav3 caveolin 3 JBrowse link 4 144,382,945 144,398,919 RGD:8554872
RGD:13592920
G Cd36 CD36 molecule JBrowse link 4 14,150,309 14,191,498 RGD:2307222
G Cep85l centrosomal protein 85-like JBrowse link 20 34,574,043 34,743,142 RGD:8554872
G Cma1 chymase 1 JBrowse link 15 34,601,037 34,603,819 RGD:5128572
G Cox15 cytochrome c oxidase assembly homolog COX15 JBrowse link 1 263,494,850 263,511,510 RGD:1598468
G Cryab crystallin, alpha B JBrowse link 8 55,178,543 55,182,546 RGD:8554872
G Csrp3 cysteine and glycine rich protein 3 JBrowse link 1 104,147,205 104,166,389 RGD:1598499
RGD:8554872
G Ctf1 cardiotrophin 1 JBrowse link 1 199,162,319 199,168,296 RGD:8554872
G Ctnnb1 catenin beta 1 JBrowse link 8 129,601,511 129,628,378 RGD:1598718
G Ctsl cathepsin L JBrowse link 17 1,873,105 1,879,266 RGD:2315555
G Ddb2 damage specific DNA binding protein 2 JBrowse link 3 80,030,437 80,052,984 RGD:8554872
G Des desmin JBrowse link 9 82,556,574 82,564,288 RGD:13525010
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Dnaaf3 dynein, axonemal, assembly factor 3 JBrowse link 1 72,874,131 72,882,867 RGD:8554872
G Dsc2 desmocollin 2 JBrowse link 18 11,826,705 11,858,801 RGD:8554872
G Dsg2 desmoglein 2 JBrowse link 18 15,579,322 15,637,720 RGD:8554872
G Dsp desmoplakin JBrowse link 17 27,286,811 27,334,453 RGD:1580892
RGD:8554872
G Dtna dystrobrevin, alpha JBrowse link 18 14,544,725 14,671,514 RGD:8554872
G Edn1 endothelin 1 JBrowse link 17 22,136,814 22,143,745 RGD:2302065
G Eya4 EYA transcriptional coactivator and phosphatase 4 JBrowse link 1 23,237,617 23,611,580 RGD:8554872
G Fasn fatty acid synthase JBrowse link 10 109,987,735 110,005,901 RGD:11554173
G Fhl1 four and a half LIM domains 1 JBrowse link X 159,112,516 159,172,528 RGD:1580798
RGD:8554872
G Fktn fukutin JBrowse link 5 70,522,001 70,578,270 RGD:8554872
G Flnc filamin C JBrowse link 4 56,710,934 56,738,779 RGD:8554872
G Fxn frataxin JBrowse link 1 242,123,975 242,152,834 RGD:8554872
G Gaa glucosidase, alpha, acid JBrowse link 10 108,395,873 108,412,999 RGD:11554173
RGD:8554872
G Gja5 gap junction protein, alpha 5 JBrowse link 2 199,162,745 199,184,942 RGD:8554872
G Gla galactosidase, alpha JBrowse link X 105,405,915 105,417,331 RGD:8554872
G Gpd1l glycerol-3-phosphate dehydrogenase 1-like JBrowse link 8 122,957,570 122,987,236 RGD:8554872
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 JBrowse link 8 63,599,907 63,637,327 RGD:8554872
G Hey2 hes-related family bHLH transcription factor with YRPW motif 2 JBrowse link 1 29,191,170 29,201,257 RGD:11554173
G Hspb1 heat shock protein family B (small) member 1 JBrowse link 12 23,839,390 23,841,051 RGD:11554173
G Hspd1 heat shock protein family D (Hsp60) member 1 JBrowse link 9 61,680,529 61,691,202 RGD:11554173
G Htr2b 5-hydroxytryptamine receptor 2B JBrowse link 9 93,112,781 93,130,135 RGD:13592920
G Icam1 intercellular adhesion molecule 1 JBrowse link 8 22,035,287 22,047,049 RGD:4145536
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 JBrowse link 1 141,874,354 141,893,674 RGD:11554173
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:1598422
G Igf1r insulin-like growth factor 1 receptor JBrowse link 1 128,924,921 129,213,816 RGD:2311505
G Ins2 insulin 2 JBrowse link 1 215,856,967 215,858,034 RGD:11554173
G Jph2 junctophilin 2 JBrowse link 3 159,709,998 159,776,536 RGD:1580652
RGD:8554872
RGD:6480270
G Jup junction plakoglobin JBrowse link 10 88,280,517 88,307,451 RGD:8554872
G Kat8 lysine acetyltransferase 8 JBrowse link 1 199,360,645 199,372,925 RGD:11554173
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 JBrowse link 11 32,498,260 32,511,202 RGD:8554872
G Kcnh2 potassium voltage-gated channel subfamily H member 2 JBrowse link 4 7,355,066 7,387,282 RGD:8554872
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 JBrowse link 10 99,429,337 99,442,520 RGD:8554872
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 JBrowse link 8 33,435,493 33,463,410 RGD:8554872
G Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 JBrowse link 4 176,783,287 176,789,143 RGD:8554872
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 JBrowse link 1 216,293,087 216,630,339 RGD:8554872
G Klhl41 kelch-like family member 41 JBrowse link 3 55,910,177 55,923,303 RGD:1580798
G Lama4 laminin subunit alpha 4 JBrowse link 20 44,060,715 44,201,966 RGD:8554872
G Lamp2 lysosomal-associated membrane protein 2 JBrowse link X 124,722,628 124,766,079 RGD:1580822
RGD:8554872
RGD:13703117
RGD:1580826
G Lamp2em1 lysosomal-associated membrane protein 2; TALEN induced mutant1 RGD:13703117
G Ldb3 LIM domain binding 3 JBrowse link 16 10,878,348 10,943,016 RGD:8554872
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
G Lrp4 LDL receptor related protein 4 JBrowse link 3 80,362,643 80,416,684 RGD:8554872
G Madd MAP-kinase activating death domain JBrowse link 3 79,960,301 80,003,023 RGD:8554872
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha JBrowse link 3 150,801,289 150,802,935 RGD:11558015
G Map2k2 mitogen activated protein kinase kinase 2 JBrowse link 7 11,458,971 11,478,520 RGD:8554872
G Mir208b microRNA 208b JBrowse link 15 33,639,510 33,639,621 RGD:8554872
G Mir451a microRNA 451a JBrowse link 10 65,291,204 65,291,275 RGD:11558015
G Mmp1 matrix metallopeptidase 1 JBrowse link 8 5,703,206 5,723,593 RGD:1582538
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:5130889
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:5130889
G Mt-atp6 mitochondrially encoded ATP synthase 6 JBrowse link MT 7,919 8,599 RGD:8554872
G Mt-atp8 mitochondrially encoded ATP synthase 8 JBrowse link MT 7,758 7,961 RGD:8554872
G Mtpn myotrophin JBrowse link 4 63,012,009 63,039,422 RGD:13592920
G Mybpc3 myosin binding protein C3 JBrowse link 3 79,940,509 79,958,731 RGD:1580235
RGD:8554872
RGD:11554173
RGD:1580233
G Myc MYC proto-oncogene, bHLH transcription factor JBrowse link 7 102,586,313 102,591,240 RGD:11554173
G Myh6 myosin heavy chain 6 JBrowse link 15 33,605,653 33,629,730 RGD:8554872
RGD:11554173
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:1580926
RGD:8554872
RGD:11554173
RGD:11065270
RGD:1580929
G Myl2 myosin light chain 2 JBrowse link 12 39,951,863 39,959,065 RGD:8554872
RGD:11554173
G Myl3 myosin light chain 3 JBrowse link 8 119,030,852 119,036,996 RGD:8554872
G Myl4 myosin, light chain 4 JBrowse link 10 92,628,356 92,638,100 RGD:11554173
G Myl7 myosin light chain 7 JBrowse link 14 86,144,770 86,147,075 RGD:11554173
G Mylk2 myosin light chain kinase 2 JBrowse link 3 148,386,185 148,397,851 RGD:8554872
G Myom1 myomesin 1 JBrowse link 9 119,353,840 119,469,196 RGD:8554872
G Myoz2 myozenin 2 JBrowse link 2 227,180,887 227,207,629 RGD:8554872
G Mypn myopalladin JBrowse link 20 26,988,820 27,074,106 RGD:8554872
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 JBrowse link 9 69,919,863 69,953,182 RGD:11554173
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 JBrowse link 13 89,606,848 89,623,506 RGD:1600573
G Nexn nexilin (F actin binding protein) JBrowse link 2 257,452,937 257,484,607 RGD:8554872
G Nkx2-5 NK2 homeobox 5 JBrowse link 10 16,635,989 16,638,758 RGD:8554872
G Nme1 NME/NM23 nucleoside diphosphate kinase 1 JBrowse link 10 81,657,152 81,666,542 RGD:11554173
G Nmnat2 nicotinamide nucleotide adenylyltransferase 2 JBrowse link 13 70,379,346 70,559,311 RGD:13782043
G Npm1 nucleophosmin 1 JBrowse link 10 18,080,949 18,091,062 RGD:11535018
G Nppa natriuretic peptide A JBrowse link 5 164,808,407 164,809,716 RGD:13792650
G Nr1h3 nuclear receptor subfamily 1, group H, member 3 JBrowse link 3 80,004,130 80,014,197 RGD:8554872
G Nsun6 NOP2/Sun RNA methyltransferase 6 JBrowse link 17 82,020,316 82,060,533 RGD:8554872
G Pacsin3 protein kinase C and casein kinase substrate in neurons 3 JBrowse link 3 80,072,425 80,081,058 RGD:8554872
G Pdlim3 PDZ and LIM domain 3 JBrowse link 16 49,543,140 49,574,362 RGD:8554872
G Pepd peptidase D JBrowse link 1 90,820,670 91,285,128 RGD:13592920
G Pkd1 polycystin 1, transient receptor potential channel interacting JBrowse link 10 13,914,057 13,962,008 RGD:13592920
G Pkp2 plakophilin 2 JBrowse link 11 88,912,163 88,972,213 RGD:8554872
G Pln phospholamban JBrowse link 20 34,633,157 34,642,904 RGD:8554872
G Pomc proopiomelanocortin JBrowse link 6 28,382,937 28,388,771 RGD:11554173
G Ppp6r1 protein phosphatase 6, regulatory subunit 1 JBrowse link 1 72,756,819 72,784,492 RGD:8554872
G Prkaca protein kinase cAMP-activated catalytic subunit alpha JBrowse link 19 25,095,089 25,118,869 RGD:1580713
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 JBrowse link 4 6,559,153 6,799,888 RGD:1580716
RGD:8554872
RGD:1580715
G Psmc3 proteasome 26S subunit, ATPase 3 JBrowse link 3 79,876,938 79,882,319 RGD:8554872
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:11072362
RGD:8554872
RGD:13592920
G Ptprh protein tyrosine phosphatase, receptor type, H JBrowse link 1 72,809,935 72,859,161 RGD:8554872
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase JBrowse link 4 147,532,040 147,592,769 RGD:11554173
G Rapsn receptor-associated protein of the synapse JBrowse link 3 79,859,815 79,869,486 RGD:8554872
G Rassf1 Ras association domain family member 1 JBrowse link 8 116,307,149 116,318,289 RGD:11554173
G Rbm20 RNA binding motif protein 20 JBrowse link 1 274,391,932 274,589,816 RGD:8554872
G Retn resistin JBrowse link 12 2,201,909 2,203,649 RGD:7207251
G RGD1309540 similar to hypothetical protein MGC40841; similar to hypothetical protein MGC4707 JBrowse link 3 80,092,589 80,349,249 RGD:8554872
G Ryr2 ryanodine receptor 2 JBrowse link 17 65,533,998 65,955,606 RGD:8554872
G Scn5a sodium voltage-gated channel alpha subunit 5 JBrowse link 8 128,169,191 128,266,681 RGD:8554872
G Sgca sarcoglycan, alpha JBrowse link 10 82,770,905 82,785,142 RGD:8554872
G Sgcb sarcoglycan, beta JBrowse link 14 37,113,194 37,128,623 RGD:8554872
G Slc25a4 solute carrier family 25 member 4 JBrowse link 16 49,266,903 49,270,698 RGD:1580619
G Slc39a13 solute carrier family 39 member 13 JBrowse link 3 79,884,524 79,892,664 RGD:8554872
G Slc9a1 solute carrier family 9 member A1 JBrowse link 5 151,573,122 151,626,360 RGD:11554173
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 JBrowse link 6 3,105,443 3,182,977 RGD:8554872
G Spi1 Spi-1 proto-oncogene JBrowse link 3 79,918,127 79,937,708 RGD:8554872
G Ssuh2 ssu-2 homolog JBrowse link 4 144,301,913 144,322,197 RGD:8554872
G Syt5 synaptotagmin 5 JBrowse link 1 72,859,806 72,867,934 RGD:8554872
G Tbca tubulin folding cofactor A JBrowse link 2 24,449,498 24,505,351 RGD:11554173
G Tcap titin-cap JBrowse link 10 86,337,705 86,338,414 RGD:8554872
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11073617
G Tgfb3 transforming growth factor, beta 3 JBrowse link 6 109,913,757 109,936,217 RGD:8554872
G Timp2 TIMP metallopeptidase inhibitor 2 JBrowse link 10 107,338,465 107,386,072 RGD:1580653
G Tmem43 transmembrane protein 43 JBrowse link 4 123,118,468 123,133,610 RGD:8554872
G Tmem86b transmembrane protein 86B JBrowse link 1 72,784,147 72,807,768 RGD:8554872
G Tmpo thymopoietin JBrowse link 7 31,847,412 31,872,416 RGD:8554872
G Tnnc1 troponin C1, slow skeletal and cardiac type JBrowse link 16 7,292,207 7,295,238 RGD:1580739
RGD:8554872
G Tnni3 troponin I3, cardiac type JBrowse link 1 72,882,806 72,886,490 RGD:1580420
RGD:8554872
G Tnnt1 troponin T1, slow skeletal type JBrowse link 1 72,889,270 72,899,629 RGD:8554872
G Tnnt2 troponin T2, cardiac type JBrowse link 13 52,662,974 52,680,992 RGD:1580440
RGD:8554872
RGD:11554173
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:11554173
G Tpm1 tropomyosin 1 JBrowse link 8 72,814,737 72,841,496 RGD:8554872
G Trim63 tripartite motif containing 63 JBrowse link 5 152,533,362 152,547,138 RGD:8554872
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 JBrowse link 1 101,293,300 101,323,484 RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:1580781
RGD:8554872
G Ucn urocortin JBrowse link 6 26,602,144 26,602,974 RGD:1580792
G Vcl vinculin JBrowse link 15 3,455,211 3,544,738 RGD:1580356
RGD:8554872
G Xirp1 xin actin-binding repeat containing 1 JBrowse link 8 128,694,809 128,712,092 RGD:13592920
G Yy1 YY1 transcription factor JBrowse link 6 132,702,443 132,726,848 RGD:1580831
hypertrophic cardiomyopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actn2 actinin alpha 2 JBrowse link 17 66,304,530 66,397,647 RGD:8554872
G Cacna1c calcium voltage-gated channel subunit alpha1 C JBrowse link 4 150,635,808 151,270,790 RGD:8554872
G Cav3 caveolin 3 JBrowse link 4 144,382,945 144,398,919 RGD:7240710
RGD:8554872
G Csrp3 cysteine and glycine rich protein 3 JBrowse link 1 104,147,205 104,166,389 RGD:8554872
G Lama4 laminin subunit alpha 4 JBrowse link 20 44,060,715 44,201,966 RGD:8554872
G Ldb3 LIM domain binding 3 JBrowse link 16 10,878,348 10,943,016 RGD:8554872
G Mybpc3 myosin binding protein C3 JBrowse link 3 79,940,509 79,958,731 RGD:8554872
G Myh6 myosin heavy chain 6 JBrowse link 15 33,605,653 33,629,730 RGD:8554872
RGD:11554173
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:7240710
RGD:8554872
G Myh7b myosin heavy chain 7B JBrowse link 3 151,105,038 151,150,621 RGD:8554872
G Myl2 myosin light chain 2 JBrowse link 12 39,951,863 39,959,065 RGD:8554872
G Myl3 myosin light chain 3 JBrowse link 8 119,030,852 119,036,996 RGD:8554872
G Mylk2 myosin light chain kinase 2 JBrowse link 3 148,386,185 148,397,851 RGD:7240710
RGD:8554872
G Nexn nexilin (F actin binding protein) JBrowse link 2 257,452,937 257,484,607 RGD:8554872
G Sgcd sarcoglycan, delta JBrowse link 10 32,062,946 32,471,454 RGD:8554872
G Tnni3 troponin I3, cardiac type JBrowse link 1 72,882,806 72,886,490 RGD:8554872
G Tnnt2 troponin T2, cardiac type JBrowse link 13 52,662,974 52,680,992 RGD:8554872
G Tpm1 tropomyosin 1 JBrowse link 8 72,814,737 72,841,496 RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
hypertrophic cardiomyopathy 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myl2 myosin light chain 2 JBrowse link 12 39,951,863 39,959,065 RGD:7240710
RGD:8554872
hypertrophic cardiomyopathy 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actc1 actin, alpha, cardiac muscle 1 JBrowse link 3 105,507,403 105,512,939 RGD:7240710
RGD:8554872
hypertrophic cardiomyopathy 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Csrp3 cysteine and glycine rich protein 3 JBrowse link 1 104,147,205 104,166,389 RGD:7240710
RGD:8554872
hypertrophic cardiomyopathy 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnnc1 troponin C1, slow skeletal and cardiac type JBrowse link 16 7,292,207 7,295,238 RGD:7240710
RGD:8554872
hypertrophic cardiomyopathy 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ldb3 LIM domain binding 3 JBrowse link 16 10,878,348 10,943,016 RGD:8554872
G Mir208b microRNA 208b JBrowse link 15 33,639,510 33,639,621 RGD:8554872
G Myh6 myosin heavy chain 6 JBrowse link 15 33,605,653 33,629,730 RGD:7240710
RGD:8554872
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
hypertrophic cardiomyopathy 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vcl vinculin JBrowse link 15 3,455,211 3,544,738 RGD:7240710
RGD:8554872
hypertrophic cardiomyopathy 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myoz2 myozenin 2 JBrowse link 2 227,180,887 227,207,629 RGD:7240710
RGD:8554872
hypertrophic cardiomyopathy 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Jph2 junctophilin 2 JBrowse link 3 159,709,998 159,776,536 RGD:7240710
RGD:8554872
hypertrophic cardiomyopathy 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep85l centrosomal protein 85-like JBrowse link 20 34,574,043 34,743,142 RGD:8554872
G Pln phospholamban JBrowse link 20 34,633,157 34,642,904 RGD:7240710
RGD:8554872
hypertrophic cardiomyopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnnt2 troponin T2, cardiac type JBrowse link 13 52,662,974 52,680,992 RGD:7240710
RGD:8554872
hypertrophic cardiomyopathy 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nexn nexilin (F actin binding protein) JBrowse link 2 257,452,937 257,484,607 RGD:7240710
RGD:8554872
hypertrophic cardiomyopathy 25 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tcap titin-cap JBrowse link 10 86,337,705 86,338,414 RGD:7240710
RGD:8554872
G Tnni3 troponin I3, cardiac type JBrowse link 1 72,882,806 72,886,490 RGD:8554872
hypertrophic cardiomyopathy 26 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flnc filamin C JBrowse link 4 56,710,934 56,738,779 RGD:8554872
RGD:7240710
Hypertrophic Cardiomyopathy 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alpk3 alpha-kinase 3 JBrowse link 1 142,882,997 142,931,940 RGD:8554872
RGD:7240710
hypertrophic cardiomyopathy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tpm1 tropomyosin 1 JBrowse link 8 72,814,737 72,841,496 RGD:7240710
RGD:8554872
hypertrophic cardiomyopathy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link 4 67,389,331 67,520,549 RGD:8554872
G Mybpc3 myosin binding protein C3 JBrowse link 3 79,940,509 79,958,731 RGD:7240710
RGD:8554872
G Ncf1 neutrophil cytosolic factor 1 JBrowse link 12 25,497,104 25,506,300 RGD:8554872
G Ryr2 ryanodine receptor 2 JBrowse link 17 65,533,998 65,955,606 RGD:8554872
G Tcap titin-cap JBrowse link 10 86,337,705 86,338,414 RGD:8554872
hypertrophic cardiomyopathy 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 JBrowse link 4 6,559,153 6,799,888 RGD:7240710
RGD:8554872
hypertrophic cardiomyopathy 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnni3 troponin I3, cardiac type JBrowse link 1 72,882,806 72,886,490 RGD:7240710
RGD:8554872
hypertrophic cardiomyopathy 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myl3 myosin light chain 3 JBrowse link 8 119,030,852 119,036,996 RGD:7240710
RGD:8554872
hypertrophic cardiomyopathy 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:7240710
RGD:8554872
RGD:11554173
Loeys-Dietz syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col3a1 collagen type III alpha 1 chain JBrowse link 9 52,023,295 52,059,221 RGD:8554872
G Col5a1 collagen type V alpha 1 chain JBrowse link 3 6,430,180 6,581,010 RGD:8554872
G Col5a2 collagen type V alpha 2 chain JBrowse link 9 52,091,088 52,238,735 RGD:8554872
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:8554872
G Fbn2 fibrillin 2 JBrowse link 18 53,068,495 53,272,254 RGD:8554872
G Myh11 myosin heavy chain 11 JBrowse link 10 764,421 859,184 RGD:8554872
G Mylk myosin light chain kinase JBrowse link 11 69,013,060 69,260,039 RGD:8554872
G Smad3 SMAD family member 3 JBrowse link 8 68,569,530 68,678,349 RGD:8554872
RGD:11554173
G Tgfb2 transforming growth factor, beta 2 JBrowse link 13 105,039,639 105,142,010 RGD:8554872
RGD:11554173
G Tgfb3 transforming growth factor, beta 3 JBrowse link 6 109,913,757 109,936,217 RGD:11554173
RGD:8554872
G Tgfbr1 transforming growth factor, beta receptor 1 JBrowse link 5 63,056,071 63,119,635 RGD:8554872
RGD:11554173
G Tgfbr2 transforming growth factor, beta receptor 2 JBrowse link 8 124,310,288 124,399,345 RGD:8554872
RGD:11554173
Loeys-Dietz syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgfbr1 transforming growth factor, beta receptor 1 JBrowse link 5 63,056,071 63,119,635 RGD:8554872
RGD:7240710
G Tgfbr2 transforming growth factor, beta receptor 2 JBrowse link 8 124,310,288 124,399,345 RGD:8554872
Loeys-Dietz syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:8554872
G Tgfbr2 transforming growth factor, beta receptor 2 JBrowse link 8 124,310,288 124,399,345 RGD:8554872
RGD:7240710
G Tmpo thymopoietin JBrowse link 7 31,847,412 31,872,416 RGD:8554872
Loeys-Dietz syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smad3 SMAD family member 3 JBrowse link 8 68,569,530 68,678,349 RGD:7240710
RGD:8554872
G Smad6 SMAD family member 6 JBrowse link 8 68,897,746 68,967,221 RGD:8554872
Loeys-Dietz syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 JBrowse link 13 103,268,045 103,292,848 RGD:8554872
G Dusp10 dual specificity phosphatase 10 JBrowse link 13 104,284,660 104,321,455 RGD:8554872
G Eprs glutamyl-prolyl-tRNA synthetase JBrowse link 13 103,300,911 103,371,651 RGD:8554872
G Esrrg estrogen-related receptor gamma JBrowse link 13 106,063,799 106,683,353 RGD:8554872
G Gpatch2 G patch domain containing 2 JBrowse link 13 105,684,300 105,824,405 RGD:8554872
G Hlx H2.0-like homeobox JBrowse link 13 102,637,967 102,643,376 RGD:8554872
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial JBrowse link 13 103,229,868 103,265,019 RGD:8554872
G Kctd3 potassium channel tetramerization domain containing 3 JBrowse link 13 107,433,588 107,471,843 RGD:8554872
G Lyplal1 lysophospholipase-like 1 JBrowse link 13 104,049,263 104,080,680 RGD:8554872
G Mark1 microtubule affinity regulating kinase 1 JBrowse link 13 102,808,254 102,942,863 RGD:8554872
G Mir194-1 microRNA 194-1 JBrowse link 13 103,250,576 103,250,658 RGD:8554872
G Mtarc1 mitochondrial amidoxime reducing component 1 JBrowse link 13 102,693,679 102,724,120 RGD:8554872
G Mtarc2 mitochondrial amidoxime reducing component 2 JBrowse link 13 102,724,266 102,755,511 RGD:8554872
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 JBrowse link 13 103,157,806 103,229,010 RGD:8554872
G RGD1310587 similar to hypothetical protein FLJ14146 JBrowse link 13 102,780,885 102,790,621 RGD:8554872
G Rrp15 ribosomal RNA processing 15 homolog JBrowse link 13 105,155,824 105,178,907 RGD:8554872
G Slc30a10 solute carrier family 30, member 10 JBrowse link 13 103,396,295 103,406,759 RGD:8554872
G Spata17 spermatogenesis associated 17 JBrowse link 13 105,489,121 105,684,293 RGD:8554872
G Tgfb2 transforming growth factor, beta 2 JBrowse link 13 105,039,639 105,142,010 RGD:7240710
RGD:8554872
G Tgfb3 transforming growth factor, beta 3 JBrowse link 6 109,913,757 109,936,217 RGD:8554872
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:8554872
Loeys-Dietz syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgfb3 transforming growth factor, beta 3 JBrowse link 6 109,913,757 109,936,217 RGD:7240710
RGD:8554872
Loeys-Dietz Syndrome, Type 1b term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgfbr2 transforming growth factor, beta receptor 2 JBrowse link 8 124,310,288 124,399,345 RGD:8554872
G Tmpo thymopoietin JBrowse link 7 31,847,412 31,872,416 RGD:8554872
Lujan Fryns Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:7240710
RGD:8554872
RGD:12910949
Marfan Lipodystrophy Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:8554872
RGD:7240710
Marfan syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cat catalase JBrowse link 3 93,379,872 93,412,058 RGD:11554173
G Cep152 centrosomal protein 152 JBrowse link 3 117,822,799 117,894,856 RGD:8554872
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:8554872
G Col3a1 collagen type III alpha 1 chain JBrowse link 9 52,023,295 52,059,221 RGD:8554872
G Col5a1 collagen type V alpha 1 chain JBrowse link 3 6,430,180 6,581,010 RGD:8554872
G Col5a2 collagen type V alpha 2 chain JBrowse link 9 52,091,088 52,238,735 RGD:8554872
G Ctxn2 cortexin 2 JBrowse link 3 117,406,300 117,416,786 RGD:8554872
G Dut deoxyuridine triphosphatase JBrowse link 3 117,514,399 117,525,450 RGD:8554872
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:1580378
RGD:8554872
RGD:11067414
RGD:12910486
RGD:12910485
RGD:12910482
RGD:11072084
RGD:12910470
RGD:11072483
RGD:12910464
RGD:12910459
RGD:12910139
RGD:12910135
RGD:12910134
RGD:12910133
RGD:12910131
RGD:12910113
RGD:11065528
RGD:11064315
RGD:11063346
RGD:12904913
RGD:12904910
RGD:11064946
RGD:11066421
RGD:12904894
RGD:11063002
RGD:11554173
RGD:7240710
RGD:1300361
G Fbn2 fibrillin 2 JBrowse link 18 53,068,495 53,272,254 RGD:8554872
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:8554872
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 JBrowse link 1 216,293,087 216,630,339 RGD:8554872
G Lamc1 laminin subunit gamma 1 JBrowse link 13 70,656,727 70,783,515 RGD:11554173
G Ltbp2 latent transforming growth factor beta binding protein 2 JBrowse link 6 108,500,114 108,596,653 RGD:8554872
G Mmp12 matrix metallopeptidase 12 JBrowse link 8 5,594,717 5,616,494 RGD:1582351
G Mmp14 matrix metallopeptidase 14 JBrowse link 15 33,074,441 33,083,666 RGD:1582351
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:11554173
RGD:1582351
RGD:13204796
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:11554173
RGD:13204796
G Mus81 MUS81 structure-specific endonuclease subunit JBrowse link 1 220,862,474 220,867,973 RGD:13592920
G Myef2 myelin expression factor 2 JBrowse link 3 117,353,490 117,389,582 RGD:8554872
G Myh11 myosin heavy chain 11 JBrowse link 10 764,421 859,184 RGD:8554872
G Mylk myosin light chain kinase JBrowse link 11 69,013,060 69,260,039 RGD:8554872
G Nos2 nitric oxide synthase 2 JBrowse link 10 66,188,290 66,221,621 RGD:11554173
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:8554872
G Sema6d semaphorin 6D JBrowse link 3 116,899,906 116,958,059 RGD:8554872
G Ski SKI proto-oncogene JBrowse link 5 172,556,196 172,623,878 RGD:8554872
G Slc12a1 solute carrier family 12 member 1 JBrowse link 3 117,421,531 117,498,372 RGD:8554872
G Slc24a5 solute carrier family 24 member 5 JBrowse link 3 117,335,212 117,354,480 RGD:8554872
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:11554173
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
G Tgfbr1 transforming growth factor, beta receptor 1 JBrowse link 5 63,056,071 63,119,635 RGD:8554872
G Tgfbr2 transforming growth factor, beta receptor 2 JBrowse link 8 124,310,288 124,399,345 RGD:1579928
RGD:8554872
RGD:11554173
G Timp2 TIMP metallopeptidase inhibitor 2 JBrowse link 10 107,338,465 107,386,072 RGD:1582351
Marfan Syndrome, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:8554872
Marfanoid Mental Retardation Syndrome, Autosomal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Amfr autocrine motility factor receptor JBrowse link 19 11,473,538 11,509,500 RGD:8554872
G Apob apolipoprotein B JBrowse link 6 33,176,826 33,216,381 RGD:8554872
G Arid1a AT-rich interaction domain 1A JBrowse link 5 151,904,687 151,977,973 RGD:8554872
G Arid1b AT-rich interaction domain 1B JBrowse link 1 45,923,119 46,232,301 RGD:8554872
G Asxl3 ASXL transcriptional regulator 3 JBrowse link 18 13,322,148 13,496,230 RGD:8554872
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 JBrowse link 2 204,003,742 204,032,023 RGD:8554872
G Atxn2l ataxin 2-like JBrowse link 1 197,908,087 197,920,400 RGD:8554872
G B3glct beta 3-glucosyltransferase JBrowse link 12 6,403,118 6,476,010 RGD:8554872
G B4galt7 beta-1,4-galactosyltransferase 7 JBrowse link 17 9,549,605 9,558,672 RGD:8554872
G Bcl11a BAF chromatin remodeling complex subunit BCL11A JBrowse link 14 108,826,717 108,921,197 RGD:8554872
G Begain brain-enriched guanylate kinase-associated JBrowse link 6 132,936,964 132,972,569 RGD:8554872
G Cdh5 cadherin 5 JBrowse link 19 1,025,122 1,074,333 RGD:8554872
G Cdhr2 cadherin-related family member 2 JBrowse link 17 10,415,044 10,450,589 RGD:8554872
G Cdk13 cyclin-dependent kinase 13 JBrowse link 17 49,833,194 49,922,932 RGD:8554872
G Cers2 ceramide synthase 2 JBrowse link 2 196,487,656 196,495,930 RGD:8554872
G Chd3 chromodomain helicase DNA binding protein 3 JBrowse link 10 55,943,467 55,970,417 RGD:8554872
G Chd8 chromodomain helicase DNA binding protein 8 JBrowse link 15 28,612,932 28,672,574 RGD:8554872
G Cic capicua transcriptional repressor JBrowse link 1 82,135,440 82,163,007 RGD:8554872
G Cit citron rho-interacting serine/threonine kinase JBrowse link 12 46,334,669 46,494,152 RGD:8554872
G Cldn11 claudin 11 JBrowse link 2 115,823,541 115,836,846 RGD:8554872
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase JBrowse link 10 88,490,798 88,497,357 RGD:8554872
G Col6a3 collagen type VI alpha 3 chain JBrowse link 9 97,926,784 98,004,643 RGD:8554872
G Crebbp CREB binding protein JBrowse link 10 11,590,994 11,721,039 RGD:8554872
G Dbn1 drebrin 1 JBrowse link 17 9,679,511 9,693,878 RGD:8554872
G Ddx3x DEAD-box helicase 3, X-linked JBrowse link X 10,400,363 10,414,010 RGD:8554872
G Ddx41 DEAD-box helicase 41 JBrowse link 17 9,631,925 9,637,317 RGD:8554872
G Dkk3 dickkopf WNT signaling pathway inhibitor 3 JBrowse link 1 176,940,424 176,983,076 RGD:8554872
G Dlg4 discs large MAGUK scaffold protein 4 JBrowse link 10 56,625,845 56,655,543 RGD:8554872
G Dok3 docking protein 3 JBrowse link 17 9,639,064 9,644,090 RGD:8554872
G Dscaml1 DS cell adhesion molecule-like 1 JBrowse link 8 49,733,835 50,056,115 RGD:8554872
G Dsp desmoplakin JBrowse link 17 27,286,811 27,334,453 RGD:8554872
G Ehmt1 euchromatic histone lysine methyltransferase 1 JBrowse link 3 1,966,974 2,123,858 RGD:8554872
G Eif4e1b eukaryotic translation initiation factor 4E family member 1B JBrowse link 17 10,369,153 10,391,667 RGD:8554872
G Emilin3 elastin microfibril interfacer 3 JBrowse link 3 156,899,892 156,906,566 RGD:8554872
G F12 coagulation factor XII JBrowse link 17 9,736,577 9,744,420 RGD:8554872
G Faf2 Fas associated factor family member 2 JBrowse link 17 10,485,650 10,527,886 RGD:8554872
G Fam193b family with sequence similarity 193, member B JBrowse link 17 9,595,742 9,628,414 RGD:8554872
G Fam83h family with sequence similarity 83, member H JBrowse link 7 117,062,748 117,070,936 RGD:8554872
G Fbn2 fibrillin 2 JBrowse link 18 53,068,495 53,272,254 RGD:8554872
G Fbxo11 F-box protein 11 JBrowse link 6 11,662,356 11,737,427 RGD:8554872
G Fgfr4 fibroblast growth factor receptor 4 JBrowse link 17 9,990,072 10,004,339 RGD:8554872
G Fkbp8 FKBP prolyl isomerase 8 JBrowse link 16 20,645,956 20,652,890 RGD:8554872
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 JBrowse link 10 27,310,718 27,371,802 RGD:8554872
G Glt8d2 glycosyltransferase 8 domain containing 2 JBrowse link 7 27,146,382 27,196,689 RGD:8554872
G Gprin1 G protein-regulated inducer of neurite outgrowth 1 JBrowse link 17 10,411,129 10,415,023 RGD:8554872
G Grk6 G protein-coupled receptor kinase 6 JBrowse link 17 9,705,917 9,721,921 RGD:8554872
G Hdlbp high density lipoprotein binding protein JBrowse link 9 100,554,574 100,624,707 RGD:8554872
G Hk3 hexokinase 3 JBrowse link 17 10,134,726 10,152,976 RGD:8554872
G Kcnb1 potassium voltage-gated channel subfamily B member 1 JBrowse link 3 163,850,785 163,935,610 RGD:8554872
G Lman2 lectin, mannose-binding 2 JBrowse link 17 9,798,136 9,815,820 RGD:8554872
G Med13l mediator complex subunit 13-like JBrowse link 12 43,421,317 43,576,859 RGD:8554872
G Mettl11b methyltransferase like 11B JBrowse link 13 81,987,877 82,027,781 RGD:8554872
G Mtrex Mtr4 exosome RNA helicase JBrowse link 2 44,726,716 44,787,013 RGD:8554872
G Mxd3 Max dimerization protein 3 JBrowse link 17 9,830,326 9,834,052 RGD:8554872
G Neu3 neuraminidase 3 JBrowse link 1 164,803,574 164,814,777 RGD:8554872
G Nf2 neurofibromin 2 JBrowse link 14 84,996,905 85,088,547 RGD:8554872
G Nfib nuclear factor I/B JBrowse link 5 100,436,343 100,647,962 RGD:8554872
G Nfix nuclear factor I X JBrowse link 19 25,818,640 25,914,777 RGD:8554872
G Nsd1 nuclear receptor binding SET domain protein 1 JBrowse link 17 9,840,859 9,955,391 RGD:8554872
G Nup205 nucleoporin 205 JBrowse link 4 62,703,779 62,773,931 RGD:8554872
G Pah phenylalanine hydroxylase JBrowse link 7 28,066,639 28,129,772 RGD:8554872
G Pdlim7 PDZ and LIM domain 7 JBrowse link 17 9,653,510 9,668,715 RGD:8554872
G Pfn3 profilin 3 JBrowse link 17 9,746,485 9,747,012 RGD:8554872
G Picalm phosphatidylinositol binding clathrin assembly protein JBrowse link 1 154,377,229 154,458,966 RGD:8554872
G Pkd1l2 polycystin 1 like 2 JBrowse link 19 49,535,122 49,624,291 RGD:8554872
G Pnpla6 patatin-like phospholipase domain containing 6 JBrowse link 12 2,068,749 2,098,139 RGD:8554872
G Prelid1 PRELI domain containing 1 JBrowse link 17 9,834,245 9,837,285 RGD:8554872
G Prr7 proline rich 7 (synaptic) JBrowse link 17 9,693,274 9,702,795 RGD:8554872
G Rab24 RAB24, member RAS oncogene family JBrowse link 17 9,837,259 9,839,464 RGD:8554872
G Ralgapb Ral GTPase activating protein non-catalytic subunit beta JBrowse link 3 154,910,291 154,983,021 RGD:8554872
G Ranbp10 RAN binding protein 10 JBrowse link 19 37,734,662 37,795,360 RGD:8554872
G Rgs14 regulator of G-protein signaling 14 JBrowse link 17 9,777,925 9,792,007 RGD:8554872
G Rnf44 ring finger protein 44 JBrowse link 17 10,458,036 10,472,410 RGD:8554872
G Satb1 SATB homeobox 1 JBrowse link 9 2,181,135 2,277,949 RGD:8554872
G Scn2a sodium voltage-gated channel alpha subunit 2 JBrowse link 3 51,687,910 51,822,008 RGD:8554872
G Sidt1 SID1 transmembrane family, member 1 JBrowse link 11 61,320,480 61,416,560 RGD:8554872
G Slc34a1 solute carrier family 34 member 1 JBrowse link 17 9,747,766 9,762,739 RGD:8554872
G Slc6a1 solute carrier family 6 member 1 JBrowse link 4 146,258,842 146,292,176 RGD:8554872
G Sncb synuclein, beta JBrowse link 17 10,384,472 10,392,776 RGD:8554872
G Spag9 sperm associated antigen 9 JBrowse link 10 81,693,736 81,827,562 RGD:8554872
G Stk11 serine/threonine kinase 11 JBrowse link 7 12,440,751 12,457,513 RGD:8554872
G Syngap1 synaptic Ras GTPase activating protein 1 JBrowse link 20 5,535,434 5,564,657 RGD:8554872
G Taf1 TATA-box binding protein associated factor 1 JBrowse link X 71,412,291 71,486,456 RGD:8554872
G Tapbpl TAP binding protein-like JBrowse link 4 157,735,748 157,743,199 RGD:8554872
G Tbr1 T-box brain transcription factor 1 JBrowse link 3 47,677,720 47,685,902 RGD:8554872
G Tmed9 transmembrane p24 trafficking protein 9 JBrowse link 17 9,560,735 9,565,249 RGD:8554872
G Tpcn2 two pore segment channel 2 JBrowse link 1 218,419,182 218,448,902 RGD:8554872
G Tspan17 tetraspanin 17 JBrowse link 17 10,356,980 10,364,614 RGD:8554872
G Uimc1 ubiquitin interaction motif containing 1 JBrowse link 17 10,061,915 10,130,921 RGD:8554872
G Unc5a unc-5 netrin receptor A JBrowse link 17 10,152,949 10,208,599 RGD:8554872
G Wscd2 WSC domain containing 2 JBrowse link 12 48,814,840 48,861,823 RGD:8554872
G Zbtb18 zinc finger and BTB domain containing 18 JBrowse link 13 95,582,234 95,593,316 RGD:8554872
G Zbtb20 zinc finger and BTB domain containing 20 JBrowse link 11 62,014,925 62,561,113 RGD:8554872
G Zbtb46 zinc finger and BTB domain containing 46 JBrowse link 3 176,888,502 176,959,009 RGD:8554872
G Zeb2 zinc finger E-box binding homeobox 2 JBrowse link 3 29,857,289 29,985,932 RGD:8554872
G Zfp346 zinc finger protein 346 JBrowse link 17 10,021,596 10,061,803 RGD:8554872
Mitochondrial Complex I Deficiency, Nuclear Type 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acad9 acyl-CoA dehydrogenase family, member 9 JBrowse link 2 122,782,051 122,806,166 RGD:7240710
RGD:8554872
G Bard1 BRCA1 associated RING domain 1 JBrowse link 9 78,297,723 78,368,777 RGD:8554872
G LOC100362908 hCG20001-like JBrowse link 4 119,572,669 119,626,852 RGD:8554872
Multisystemic Smooth Muscle Dysfunction Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acta2 actin alpha 2, smooth muscle JBrowse link 1 252,537,614 252,550,394 RGD:7240710
RGD:8554872
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:8554872
Sensorineural Deafness with Hypertrophic Cardiomyopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo6 myosin VI JBrowse link 8 87,583,649 87,731,271 RGD:8554872
SHONE COMPLEX term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:8554872
Shprintzen-Goldberg Craniosynostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 JBrowse link 5 173,340,060 173,354,756 RGD:8554872
G Actrt2 actin-related protein T2 JBrowse link 5 172,077,290 172,078,690 RGD:8554872
G Agrn agrin JBrowse link 5 173,589,910 173,622,813 RGD:8554872
G Ankrd65 ankyrin repeat domain 65 JBrowse link 5 173,237,642 173,239,899 RGD:8554872
G Atad3a ATPase family, AAA domain containing 3A JBrowse link 5 173,189,590 173,209,809 RGD:8554872
G Aurkaip1 aurora kinase A interacting protein 1 JBrowse link 5 173,274,433 173,276,170 RGD:8554872
G B3galt6 Beta-1,3-galactosyltransferase 6 JBrowse link 5 173,423,475 173,425,611 RGD:8554872
G C1qtnf12 C1q and TNF related 12 JBrowse link 5 173,390,901 173,395,276 RGD:8554872
G Ccnl2 cyclin L2 JBrowse link 5 173,256,301 173,268,279 RGD:8554872
G Cdk11b cyclin-dependent kinase 11B JBrowse link 5 173,051,900 173,078,049 RGD:8554872
G Cfap74 cilia and flagella associated protein 74 JBrowse link 5 172,817,221 172,884,996 RGD:8554872
G Cptp ceramide-1-phosphate transfer protein JBrowse link 5 173,314,219 173,318,384 RGD:8554872
G Dvl1 dishevelled segment polarity protein 1 JBrowse link 5 173,295,948 173,308,014 RGD:8554872
G Faap20 FA core complex associated protein 20 JBrowse link 5 172,648,171 172,655,576 RGD:8554872
G Fndc10 fibronectin type III domain containing 10 JBrowse link 5 173,139,345 173,141,564 RGD:8554872
G Gabrd gamma-aminobutyric acid type A receptor subunit delta JBrowse link 5 172,797,478 172,809,374 RGD:8554872
G Gnb1 G protein subunit beta 1 JBrowse link 5 172,914,025 172,981,403 RGD:8554872
G Hes5 hes family bHLH transcription factor 5 JBrowse link 5 172,364,421 172,365,188 RGD:8554872
G Ints11 integrator complex subunit 11 JBrowse link 5 173,318,435 173,336,930 RGD:8554872
G Kifbp kinesin family binding protein JBrowse link 20 32,191,731 32,211,295 RGD:8554872
G Mib2 mindbomb E3 ubiquitin protein ligase 2 JBrowse link 5 173,082,943 173,099,353 RGD:8554872
G Mir200a microRNA 200a JBrowse link 5 173,489,366 173,489,454 RGD:8554872
G Mir200b microRNA 200b JBrowse link 5 173,490,144 173,490,238 RGD:8554872
G Mir429 microRNA 429 JBrowse link 5 173,488,331 173,488,415 RGD:8554872
G Mmel1 membrane metallo-endopeptidase-like 1 JBrowse link 5 172,273,450 172,303,905 RGD:8554872
G Mmp23 matrix metallopeptidase 23 JBrowse link 5 173,078,811 173,082,834 RGD:8554872
G Morn1 MORN repeat containing 1 JBrowse link 5 172,489,160 172,547,102 RGD:8554872
G Mrpl20 mitochondrial ribosomal protein L20 JBrowse link 5 173,248,245 173,252,775 RGD:8554872
G Mxra8 matrix remodeling associated 8 JBrowse link 5 173,288,200 173,292,926 RGD:8554872
G Nadk NAD kinase JBrowse link 5 172,984,930 173,015,505 RGD:8554872
G Pank4 pantothenate kinase 4 JBrowse link 5 172,367,593 172,384,077 RGD:8554872
G Pex10 peroxisomal biogenesis factor 10 JBrowse link 5 172,469,978 172,475,144 RGD:8554872
G Plch2 phospholipase C, eta 2 JBrowse link 5 172,386,400 172,455,965 RGD:8554872
G Prkcz protein kinase C, zeta JBrowse link 5 172,658,071 172,769,492 RGD:8554872
G Prxl2b peroxiredoxin like 2B JBrowse link 5 172,304,799 172,307,402 RGD:8554872
G Pusl1 pseudouridine synthase like 1 JBrowse link 5 173,326,755 173,339,934 RGD:8554872
G Rer1 retention in endoplasmic reticulum sorting receptor 1 JBrowse link 5 172,476,746 172,488,822 RGD:8554872
G RGD1311517 similar to RIKEN cDNA 9430015G10 JBrowse link 5 173,542,058 173,559,761 RGD:8554872
G Rnf223 ring finger protein 223 JBrowse link 5 173,561,016 173,566,844 RGD:8554872
G Sdf4 stromal cell derived factor 4 JBrowse link 5 173,425,922 173,444,478 RGD:8554872
G Ski SKI proto-oncogene JBrowse link 5 172,556,196 172,623,878 RGD:7240710
RGD:8554872
RGD:11554173
G Slc35e2b solute carrier family 35, member E2B JBrowse link 5 173,024,335 173,050,228 RGD:8554872
G Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase JBrowse link 5 173,152,964 173,182,720 RGD:8554872
G Tas1r3 taste 1 receptor member 3 JBrowse link 5 173,307,325 173,312,950 RGD:8554872
G Tmem240 transmembrane protein 240 JBrowse link 5 173,182,815 173,189,683 RGD:8554872
G Tmem52 transmembrane protein 52 JBrowse link 5 172,887,587 172,889,349 RGD:8554872
G Tmem88b transmembrane protein 88B JBrowse link 5 173,230,364 173,233,188 RGD:8554872
G Tnfrsf14 TNF receptor superfamily member 14 JBrowse link 5 172,328,259 172,337,221 RGD:8554872
G Tnfrsf18 TNF receptor superfamily member 18 JBrowse link 5 173,459,371 173,463,980 RGD:8554872
G Tnfrsf4 TNF receptor superfamily member 4 JBrowse link 5 173,447,784 173,450,474 RGD:8554872
G Ttc34 tetratricopeptide repeat domain 34 JBrowse link 5 172,253,257 172,271,056 RGD:8554872
G Ttll10 tubulin tyrosine ligase like 10 JBrowse link 5 173,471,020 173,517,783 RGD:8554872
G Ube2j2 ubiquitin-conjugating enzyme E2, J2 JBrowse link 5 173,372,659 173,387,084 RGD:8554872
G Vwa1 von Willebrand factor A domain containing 1 JBrowse link 5 173,216,737 173,221,923 RGD:8554872
Singleton Merten Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ifih1 interferon induced with helicase C domain 1 JBrowse link 3 48,557,696 48,604,097 RGD:11554173
RGD:8554872
Singleton-Merten Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ifih1 interferon induced with helicase C domain 1 JBrowse link 3 48,557,696 48,604,097 RGD:7240710
RGD:8554872
Singleton-Merten Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ddx58 DEXD/H-box helicase 58 JBrowse link 5 56,486,584 56,536,898 RGD:8554872
RGD:7240710
subvalvular aortic stenosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsp desmoplakin JBrowse link 17 27,286,811 27,334,453 RGD:8554872
G Pomc proopiomelanocortin JBrowse link 6 28,382,937 28,388,771 RGD:11554173
supravalvular aortic stenosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Casq2 calsequestrin 2 JBrowse link 2 204,512,361 204,568,643 RGD:6771235
G Eln elastin JBrowse link 12 24,978,478 25,021,864 RGD:1601026
RGD:8554872
RGD:11554173
RGD:7240710
Takayasu's arteritis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ager advanced glycosylation end product-specific receptor JBrowse link 20 4,363,152 4,366,079 RGD:8695992
G Il2 interleukin 2 JBrowse link 2 123,847,150 123,851,854 RGD:8663467
RGD:8693331
G Mmp3 matrix metallopeptidase 3 JBrowse link 8 5,676,608 5,698,579 RGD:8693315
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:8693315
G Nos2 nitric oxide synthase 2 JBrowse link 10 66,188,290 66,221,621 RGD:11554173
tetralogy of Fallot term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actn2 actinin alpha 2 JBrowse link 17 66,304,530 66,397,647 RGD:8554872
G Bmp10 bone morphogenetic protein 10 JBrowse link 4 119,224,906 119,230,534 RGD:13592920
G Cers1 ceramide synthase 1 JBrowse link 16 20,845,580 20,860,789 RGD:8554872
G Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 JBrowse link 1 12,823,363 12,825,806 RGD:13592920
G Creld1 cysteine-rich with EGF-like domains 1 JBrowse link 4 145,440,284 145,449,894 RGD:8554872
G Dnah5 dynein, axonemal, heavy chain 5 JBrowse link 2
2
80,947,730
81,159,060
81,143,997
81,337,560
RGD:13592920
G Dock1 dedicator of cyto-kinesis 1 JBrowse link 1 206,900,617 207,414,852 RGD:13592920
G Ephb4 EPH receptor B4 JBrowse link 12 22,393,338 22,418,332 RGD:8554872
G Fgf8 fibroblast growth factor 8 JBrowse link 1 265,492,949 265,498,965 RGD:13592920
G Flt4 Fms related receptor tyrosine kinase 4 JBrowse link 10 35,078,782 35,120,296 RGD:11554173
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:11554173
G Foxc2 forkhead box C2 JBrowse link 19 53,044,379 53,047,081 RGD:11554173
G Foxh1 forkhead box H1 JBrowse link 7 117,730,307 117,733,076 RGD:11554173
G Gata4 GATA binding protein 4 JBrowse link 15 46,386,703 46,458,679 RGD:7240710
RGD:8554872
G Gata6 GATA binding protein 6 JBrowse link 18 2,415,821 2,447,087 RGD:7240710
RGD:8554872
G Gdf1 growth differentiation factor 1 JBrowse link 16 20,845,580 20,860,789 RGD:11554173
RGD:8554872
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:1582666
G Gja5 gap junction protein, alpha 5 JBrowse link 2 199,162,745 199,184,942 RGD:7207464
RGD:13592920
G Hand2 heart and neural crest derivatives expressed 2 JBrowse link 16 36,371,489 36,373,551 RGD:11554173
G Hey2 hes-related family bHLH transcription factor with YRPW motif 2 JBrowse link 1 29,191,170 29,201,257 RGD:13592920
G Invs inversin JBrowse link 5 64,031,131 64,180,830 RGD:13592920
G Irx4 iroquois homeobox 4 JBrowse link 1 32,634,774 32,645,151 RGD:8554872
G Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 RGD:1582344
RGD:8554872
RGD:11554173
RGD:7240710
G Mks1 MKS transition zone complex subunit 1 JBrowse link 10 75,149,814 75,160,481 RGD:13592920
G Mt-co1 mitochondrially encoded cytochrome c oxidase I JBrowse link MT 5,323 6,867 RGD:8554872
G Mt-co2 mitochondrially encoded cytochrome c oxidase II JBrowse link MT 7,006 7,689 RGD:8554872
G Mt-co3 mitochondrially encoded cytochrome c oxidase III JBrowse link MT 8,599 9,382 RGD:8554872
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 JBrowse link 6 99,282,850 99,350,367 RGD:12910957
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:11565105
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
G Nipbl NIPBL, cohesin loading factor JBrowse link 2 57,508,830 57,676,197 RGD:8554872
G Nkx2-5 NK2 homeobox 5 JBrowse link 10 16,635,989 16,638,758 RGD:1581133
RGD:8554872
RGD:7240710
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:8554872
G Ntf3 neurotrophin 3 JBrowse link 4 158,636,883 158,705,886 RGD:13592920
G Phc1 polyhomeotic homolog 1 JBrowse link 4 155,093,947 155,118,838 RGD:13592920
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:12743641
G Ret ret proto-oncogene JBrowse link 4 150,202,170 150,249,196 RGD:8554872
G Tbx1 T-box transcription factor 1 JBrowse link 11 86,552,022 86,561,647 RGD:7240710
RGD:8554872
RGD:11554173
G Tpm1 tropomyosin 1 JBrowse link 8 72,814,737 72,841,496 RGD:8554872
G Zfpm2 zinc finger protein, multitype 2 JBrowse link 7 79,471,277 79,964,405 RGD:1580641
RGD:8554872
RGD:7240710
thoracic aortic aneurysm term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acta2 actin alpha 2, smooth muscle JBrowse link 1 252,537,614 252,550,394 RGD:8554872
RGD:11069461
RGD:12879440
RGD:11554173
G Adam10 ADAM metallopeptidase domain 10 JBrowse link 8 77,107,355 77,237,483 RGD:5129489
G Adam17 ADAM metallopeptidase domain 17 JBrowse link 6 43,400,525 43,448,280 RGD:5129489
G Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase JBrowse link 5 63,187,466 63,192,025 RGD:8554872
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 JBrowse link X 157,236,400 157,312,028 RGD:8554872
G Bgn biglycan JBrowse link X 157,319,042 157,331,204 RGD:8554872
G Cbs cystathionine beta synthase JBrowse link 20 10,361,987 10,386,663 RGD:8554872
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:8554872
G Col3a1 collagen type III alpha 1 chain JBrowse link 9 52,023,295 52,059,221 RGD:8554872
G Col5a1 collagen type V alpha 1 chain JBrowse link 3 6,430,180 6,581,010 RGD:8554872
G Col5a2 collagen type V alpha 2 chain JBrowse link 9 52,091,088 52,238,735 RGD:8554872
G Cxcl10 C-X-C motif chemokine ligand 10 JBrowse link 14 17,210,733 17,212,930 RGD:5135442
G Cxcl9 C-X-C motif chemokine ligand 9 JBrowse link 14 17,228,832 17,233,743 RGD:5135442
G Cxcr3 C-X-C motif chemokine receptor 3 JBrowse link X 71,614,346 71,616,997 RGD:5135442
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:8554872
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:8554872
RGD:11554173
G Fbn2 fibrillin 2 JBrowse link 18 53,068,495 53,272,254 RGD:8554872
G Foxe3 forkhead box E3 JBrowse link 5 133,724,796 133,725,656 RGD:13592920
G Gata5 GATA binding protein 5 JBrowse link 3 175,701,278 175,709,465 RGD:8554872
G Lox lysyl oxidase JBrowse link 18 47,500,320 47,577,819 RGD:8554872
G Mat2a methionine adenosyltransferase 2A JBrowse link 4 100,297,478 100,303,047 RGD:8554872
G Mmp1 matrix metallopeptidase 1 JBrowse link 8 5,703,206 5,723,593 RGD:1582530
RGD:1582351
G Mmp12 matrix metallopeptidase 12 JBrowse link 8 5,594,717 5,616,494 RGD:1582351
G Mmp14 matrix metallopeptidase 14 JBrowse link 15 33,074,441 33,083,666 RGD:1582351
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:1582608
RGD:11554173
RGD:5129489
G Mmp8 matrix metallopeptidase 8 JBrowse link 8 5,768,808 5,777,741 RGD:1582351
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:1580554
RGD:1582351
RGD:11554173
RGD:5129489
G Myh11 myosin heavy chain 11 JBrowse link 10 764,421 859,184 RGD:1580903
RGD:8554872
RGD:13592920
G Mylk myosin light chain kinase JBrowse link 11 69,013,060 69,260,039 RGD:8554872
RGD:13592920
G Nde1 nudE neurodevelopment protein 1 JBrowse link 10 860,513 904,624 RGD:8554872
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:8554872
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 JBrowse link 5 164,720,629 164,747,071 RGD:8554872
G Prkg1 protein kinase cGMP-dependent 1 JBrowse link 1 248,982,039 250,300,952 RGD:8554872
RGD:13592920
G Robo4 roundabout guidance receptor 4 JBrowse link 8 39,082,693 39,093,344 RGD:11554173
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:13208504
G Ski SKI proto-oncogene JBrowse link 5 172,556,196 172,623,878 RGD:8554872
G Slc2a10 solute carrier family 2 member 10 JBrowse link 3 162,182,156 162,194,610 RGD:8554872
G Smad3 SMAD family member 3 JBrowse link 8 68,569,530 68,678,349 RGD:8554872
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:8554872
G Smad6 SMAD family member 6 JBrowse link 8 68,897,746 68,967,221 RGD:8554872
G Srfbp1 serum response factor binding protein 1 JBrowse link 18 47,456,406 47,478,967 RGD:8554872
G Tgfb2 transforming growth factor, beta 2 JBrowse link 13 105,039,639 105,142,010 RGD:8554872
RGD:11554173
G Tgfb3 transforming growth factor, beta 3 JBrowse link 6 109,913,757 109,936,217 RGD:8554872
G Tgfbr1 transforming growth factor, beta receptor 1 JBrowse link 5 63,056,071 63,119,635 RGD:2299005
RGD:8554872
G Tgfbr2 transforming growth factor, beta receptor 2 JBrowse link 8 124,310,288 124,399,345 RGD:2299005
RGD:8554872
RGD:11554173
G Tgfbr3 transforming growth factor beta receptor 3 JBrowse link 14 3,506,416 3,680,508 RGD:8554872
G Timp1 TIMP metallopeptidase inhibitor 1 JBrowse link X 1,364,771 1,369,451 RGD:1582351
G Timp2 TIMP metallopeptidase inhibitor 2 JBrowse link 10 107,338,465 107,386,072 RGD:1582351
G Timp3 TIMP metallopeptidase inhibitor 3 JBrowse link 7 23,543,125 23,594,170 RGD:1582351
Williams-Beuren syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Baz1b bromodomain adjacent to zinc finger domain, 1B JBrowse link 12 24,478,882 24,536,851 RGD:11554173
G Clip2 CAP-GLY domain containing linker protein 2 JBrowse link 12 25,172,957 25,236,935 RGD:734863
RGD:13592920
G Dlg4 discs large MAGUK scaffold protein 4 JBrowse link 10 56,625,845 56,655,543 RGD:11554173
G Eif4h eukaryotic translation initiation factor 4H JBrowse link 12 25,093,119 25,109,805 RGD:1580597
RGD:13592920
G Eln elastin JBrowse link 12 24,978,478 25,021,864 RGD:7207897
RGD:11554173
RGD:9585755
G Fkbp6 FKBP prolyl isomerase 6 JBrowse link 12 24,365,941 24,438,088 RGD:1582483
G Fzd3 frizzled class receptor 3 JBrowse link 15 48,601,259 48,670,257 RGD:1582654
G Fzd9 frizzled class receptor 9 JBrowse link 12 24,473,981 24,476,295 RGD:13592920
G Gtf2i general transcription factor II I JBrowse link 12 25,410,804 25,487,970 RGD:11554173
G Gtf2ird1 GTF2I repeat domain containing 1 JBrowse link 12 25,264,052 25,370,947 RGD:11554173
G Lat2 linker for activation of T cells family, member 2 JBrowse link 12 25,114,099 25,128,381 RGD:1549872
G Limk1 LIM domain kinase 1 JBrowse link 12 25,036,630 25,070,538 RGD:13592920
G Lox lysyl oxidase JBrowse link 18 47,500,320 47,577,819 RGD:13592920
G Mlxipl MLX interacting protein-like JBrowse link 12 24,590,645 24,619,639 RGD:11554173
G Ncf1 neutrophil cytosolic factor 1 JBrowse link 12 25,497,104 25,506,300 RGD:1624399
G Rcc1l RCC1 like JBrowse link 12 25,561,871 25,592,337 RGD:1580600
G Src SRC proto-oncogene, non-receptor tyrosine kinase JBrowse link 3 153,547,807 153,595,643 RGD:13592920

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15502
    disease of anatomical entity 14856
      cardiovascular system disease 4237
        vascular disease 3277
          artery disease 2224
            aortic disease 543
              Aortic Arch Syndromes + 5
              Aortic Dissections 6
              Aortic Injuries 2
              Calcific Aortic Disease with Immunologic Abnormalities, Familial 0
              Leriche Syndrome 0
              Marfan syndrome + 206
              Overriding Aorta + 40
              Singleton Merten Syndrome + 2
              aorta angiosarcoma 0
              aorta atresia 0
              aortic aneurysm + 116
              aortic atherosclerosis 2
              aortic malignant tumor 0
              aortic valve disease + 253
              aortitis 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.