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ONTOLOGY REPORT - ANNOTATIONS


Term:Marfan syndrome
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Accession:DOID:14323 term browser browse the term
Definition:An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE, dilation of the AORTA, and aortic dissection. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome is associated with mutations in the gene encoding fibrillin, a major element of extracellular microfibrils of connective tissue.
Synonyms:exact_synonym: MFS;   MFS1;   Marfan syndrome, type I;   Marfan's syndrome;   Marfans Syndrome
 narrow_synonym: MARFAN SYNDROME, MILD VARIABLE;   Marfan Syndrome, Incomplete;   Marfan syndrome, atypical;   Marfan syndrome, neonatal;   Marfan syndrome, severe classic
 related_synonym: Marfanoid habitus
 primary_id: MESH:D008382
 alt_id: OMIM:154700
 xref: GARD:6975;   ICD10CM:Q87.4;   ICD10CM:Q87.40;   ICD9CM:759.82;   NCI:C34807
For additional species annotation, visit the Alliance of Genome Resources.


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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:1300361
RGD:7240710
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 Slc2a10 solute carrier family 2 member 10 JBrowse link 3 162,182,156 162,194,610 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
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, 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 Hypermobility 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 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 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 Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:8554872
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: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
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16017
    syndrome 6141
      Marfan syndrome 207
        Cutis Laxa-Marfanoid Syndrome 0
        Loeys-Dietz syndrome + 33
        Lujan Fryns Syndrome 1
        Marfan Lipodystrophy Syndrome 1
        Marfan Syndrome Type 2 0
        Marfan Syndrome, Autosomal Recessive 1
        Marfanoid Habitus with Microcephaly and Glomerulonephritis 0
        Marfanoid Habitus with Situs Inversus 0
        Marfanoid Hypermobility Syndrome 8
        Marfanoid Mental Retardation Syndrome, Autosomal 96
        Shprintzen-Goldberg Craniosynostosis 54
Path 2
Term Annotations click to browse term
  disease 16017
    Developmental Diseases 9307
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8132
        Congenital Abnormalities 4507
          Cardiovascular Abnormalities 1090
            congenital heart disease 1039
              Marfan syndrome 207
                Cutis Laxa-Marfanoid Syndrome 0
                Loeys-Dietz syndrome + 33
                Lujan Fryns Syndrome 1
                Marfan Lipodystrophy Syndrome 1
                Marfan Syndrome Type 2 0
                Marfan Syndrome, Autosomal Recessive 1
                Marfanoid Habitus with Microcephaly and Glomerulonephritis 0
                Marfanoid Habitus with Situs Inversus 0
                Marfanoid Hypermobility Syndrome 8
                Marfanoid Mental Retardation Syndrome, Autosomal 96
                Shprintzen-Goldberg Craniosynostosis 54
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.