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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 NW_004955422 11,783,973 11,826,970 RGD:9068941
G Cep152 centrosomal protein 152 JBrowse link NW_004955409 5,121,332 5,210,729 RGD:9068941
G Col1a2 collagen type I alpha 2 chain JBrowse link NW_004955432 11,127,961 11,164,145 RGD:9068941
G Col3a1 collagen type III alpha 1 chain JBrowse link NW_004955403 9,720,831 9,758,019 RGD:9068941
G Col5a1 collagen type V alpha 1 chain JBrowse link NW_004955513 3,533,612 3,660,605 RGD:9068941
G Col5a2 collagen type V alpha 2 chain JBrowse link NW_004955403 9,562,401 9,703,828 RGD:9068941
G Ctxn2 cortexin 2 JBrowse link NW_004955409 5,685,318 5,695,682 RGD:9068941
G Dut deoxyuridine triphosphatase JBrowse link NW_004955409 5,574,810 5,584,135 RGD:9068941
G Fbn1 fibrillin 1 JBrowse link NW_004955409 5,281,603 5,502,547 RGD:7240710
RGD:9068941
G Fbn2 fibrillin 2 JBrowse link NW_004955415 1,307,553 1,535,435 RGD:9068941
G Flna filamin A JBrowse link NW_004955580 874,233 895,172 RGD:9068941
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 JBrowse link NW_004955422 14,212,563 14,544,556 RGD:9068941
G Lamc1 laminin subunit gamma 1 JBrowse link NW_004955406 21,863,836 21,990,161 RGD:9068941
G Ltbp2 latent transforming growth factor beta binding protein 2 JBrowse link NW_004955523 919,220 1,005,747 RGD:9068941
G Mmp12 matrix metallopeptidase 12 JBrowse link NW_004955412 6,045,146 6,057,112 RGD:9068941
G Mmp14 matrix metallopeptidase 14 JBrowse link NW_004955409 37,438,924 37,448,704 RGD:9068941
G Mmp2 matrix metallopeptidase 2 JBrowse link NW_004955433 13,024,844 13,050,041 RGD:9068941
G Mmp9 matrix metallopeptidase 9 JBrowse link NW_004955445 11,295,500 11,303,322 RGD:9068941
G Mus81 MUS81 structure-specific endonuclease subunit JBrowse link NW_004955422 19,471,552 19,479,121 RGD:9068941
G Myef2 myelin expression factor 2 JBrowse link NW_004955409 5,713,495 5,747,528 RGD:9068941
G Myh11 myosin heavy chain 11 JBrowse link NW_004955442 528,317 644,252 RGD:9068941
G Mylk myosin light chain kinase JBrowse link NW_004955427 22,760,432 23,008,432 RGD:9068941
G Nos2 nitric oxide synthase 2 JBrowse link NW_004955481 5,197,957 5,232,406 RGD:9068941
G Notch1 notch receptor 1 JBrowse link NW_004955513 4,225,939 4,264,875 RGD:9068941
G Sema6d semaphorin 6D JBrowse link NW_004955409 6,086,178 6,143,702 RGD:9068941
G Ski SKI proto-oncogene JBrowse link NW_004955486 8,857,693 8,921,821 RGD:9068941
G Slc12a1 solute carrier family 12 member 1 JBrowse link NW_004955409 5,597,033 5,680,009 RGD:9068941
G Slc24a5 solute carrier family 24 member 5 JBrowse link NW_004955409 5,747,624 5,768,122 RGD:9068941
G Sod1 superoxide dismutase 1 JBrowse link NW_004955407 31,261,451 31,267,657 RGD:9068941
G Sod2 superoxide dismutase 2 JBrowse link NW_004955439 21,209,101 21,223,538 RGD:9068941
G Tgfbr1 transforming growth factor beta receptor 1 JBrowse link NW_004955419 26,490,899 26,546,349 RGD:9068941
G Tgfbr2 transforming growth factor beta receptor 2 JBrowse link NW_004955430 21,919,338 21,999,688 RGD:9068941
G Timp2 TIMP metallopeptidase inhibitor 2 JBrowse link NW_004955506 3,769,113 3,812,896 RGD:9068941
Loeys-Dietz syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col3a1 collagen type III alpha 1 chain JBrowse link NW_004955403 9,720,831 9,758,019 RGD:9068941
G Col5a1 collagen type V alpha 1 chain JBrowse link NW_004955513 3,533,612 3,660,605 RGD:9068941
G Col5a2 collagen type V alpha 2 chain JBrowse link NW_004955403 9,562,401 9,703,828 RGD:9068941
G Fbn1 fibrillin 1 JBrowse link NW_004955409 5,281,603 5,502,547 RGD:9068941
G Fbn2 fibrillin 2 JBrowse link NW_004955415 1,307,553 1,535,435 RGD:9068941
G Myh11 myosin heavy chain 11 JBrowse link NW_004955442 528,317 644,252 RGD:9068941
G Mylk myosin light chain kinase JBrowse link NW_004955427 22,760,432 23,008,432 RGD:9068941
G Smad3 SMAD family member 3 JBrowse link NW_004955450 8,747,651 8,842,003 RGD:9068941
G Tgfb2 transforming growth factor beta 2 JBrowse link NW_004955406 174,949 249,248 RGD:9068941
G Tgfb3 transforming growth factor beta 3 JBrowse link NW_004955438 33,129 55,180 RGD:9068941
G Tgfbr1 transforming growth factor beta receptor 1 JBrowse link NW_004955419 26,490,899 26,546,349 RGD:9068941
G Tgfbr2 transforming growth factor beta receptor 2 JBrowse link NW_004955430 21,919,338 21,999,688 RGD:9068941
Loeys-Dietz syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgfbr1 transforming growth factor beta receptor 1 JBrowse link NW_004955419 26,490,899 26,546,349 RGD:7240710
RGD:9068941
G Tgfbr2 transforming growth factor beta receptor 2 JBrowse link NW_004955430 21,919,338 21,999,688 RGD:9068941
Loeys-Dietz syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link NW_004955409 5,281,603 5,502,547 RGD:9068941
G Tgfbr2 transforming growth factor beta receptor 2 JBrowse link NW_004955430 21,919,338 21,999,688 RGD:7240710
RGD:9068941
G Tmpo thymopoietin JBrowse link NW_004955405 34,526,420 34,556,740 RGD:9068941
Loeys-Dietz syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smad3 SMAD family member 3 JBrowse link NW_004955450 8,747,651 8,842,003 RGD:7240710
RGD:9068941
G Smad6 SMAD family member 6 JBrowse link NW_004955450 9,005,332 9,070,790 RGD:9068941
Loeys-Dietz syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 JBrowse link NW_004955520 3,521,096 3,543,255 RGD:9068941
G Dusp10 dual specificity phosphatase 10 JBrowse link NW_004955520 2,338,548 2,371,591 RGD:9068941
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 JBrowse link NW_004955520 3,550,558 3,606,015 RGD:9068941
G Esrrg estrogen related receptor gamma JBrowse link NW_004955406 1,260,240 1,784,652 RGD:9068941
G Gpatch2 G-patch domain containing 2 JBrowse link NW_004955406 800,496 963,004 RGD:9068941
G Hlx H2.0 like homeobox JBrowse link NW_004955520 2,937,131 2,941,170 RGD:9068941
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial JBrowse link NW_004955520 3,485,816 3,521,035 RGD:9068941
G Kctd3 potassium channel tetramerization domain containing 3 JBrowse link NW_004955406 2,500,619 2,539,123 RGD:9068941
G LOC106147121 chromosome unknown open reading frame, human C1orf115 JBrowse link NW_004955520 3,064,235 3,065,978 RGD:9068941
G Lyplal1 lysophospholipase like 1 JBrowse link NW_004955520 4,251,863 4,281,775 RGD:9068941
G Mark1 microtubule affinity regulating kinase 1 JBrowse link NW_004955520 3,087,581 3,205,525 RGD:9068941
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 JBrowse link NW_004955520 3,411,504 3,483,703 RGD:9068941
G Rrp15 ribosomal RNA processing 15 homolog JBrowse link NW_004955406 260,447 295,842 RGD:9068941
G Slc30a10 solute carrier family 30 member 10 JBrowse link NW_004955520 3,631,192 3,641,595 RGD:9068941
G Spata17 spermatogenesis associated 17 JBrowse link NW_004955406 599,438 800,369 RGD:9068941
G Tgfb2 transforming growth factor beta 2 JBrowse link NW_004955406 174,949 249,248 RGD:7240710
RGD:9068941
G Tgfb3 transforming growth factor beta 3 JBrowse link NW_004955438 33,129 55,180 RGD:9068941
G Ush2a usherin JBrowse link NW_004955406 1,837,831 2,499,664 RGD:9068941
Loeys-Dietz syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgfb3 transforming growth factor beta 3 JBrowse link NW_004955438 33,129 55,180 RGD:7240710
RGD:9068941
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 NW_004955430 21,919,338 21,999,688 RGD:9068941
G Tmpo thymopoietin JBrowse link NW_004955405 34,526,420 34,556,740 RGD:9068941
Lujan Fryns Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med12 mediator complex subunit 12 JBrowse link NW_004955475 10,687,168 10,710,286 RGD:7240710
RGD:9068941
Marfan Lipodystrophy Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link NW_004955409 5,281,603 5,502,547 RGD:7240710
RGD:9068941
Marfan Syndrome, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link NW_004955409 5,281,603 5,502,547 RGD:9068941
Marfanoid Mental Retardation Syndrome, Autosomal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Amfr autocrine motility factor receptor JBrowse link NW_004955433 14,172,871 14,205,484 RGD:9068941
G Apob apolipoprotein B JBrowse link NW_004955469 3,437,422 3,478,408 RGD:9068941
G Arid1a AT-rich interaction domain 1A JBrowse link NW_004955452 6,068,631 6,120,759 RGD:9068941
G Arid1b AT-rich interaction domain 1B JBrowse link NW_004955439 5,041,111 5,454,692 RGD:9068941
G Asxl3 ASXL transcriptional regulator 3 JBrowse link NW_004955402 20,571,209 20,704,480 RGD:9068941
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 JBrowse link NW_004955435 19,537,224 19,563,631 RGD:9068941
G Atxn2l ataxin 2 like JBrowse link NW_004955493 6,626,106 6,637,678 RGD:9068941
G B3glct beta 3-glucosyltransferase JBrowse link NW_004955431 14,507,184 14,621,376 RGD:9068941
G B4galt7 beta-1,4-galactosyltransferase 7 JBrowse link NW_004955408 29,837,982 29,847,891 RGD:9068941
G Bcl11a BAF chromatin remodeling complex subunit BCL11A JBrowse link NW_004955424 23,233,523 23,330,679 RGD:9068941
G Begain brain enriched guanylate kinase associated JBrowse link NW_004955438 21,572,080 21,580,311 RGD:9068941
G Cdh5 cadherin 5 JBrowse link NW_004955433 22,957,718 22,994,515 RGD:9068941
G Cdhr2 cadherin related family member 2 JBrowse link NW_004955408 28,832,362 28,871,345 RGD:9068941
G Cdk13 cyclin dependent kinase 13 JBrowse link NW_004955460 3,590,854 3,701,148 RGD:9068941
G Cers2 ceramide synthase 2 JBrowse link NW_004955588 338,381 342,139 RGD:9068941
G Chd3 chromodomain helicase DNA binding protein 3 JBrowse link NW_004955467 9,024,112 9,050,062 RGD:9068941
G Chd8 chromodomain helicase DNA binding protein 8 JBrowse link NW_004955550 2,115,649 2,175,687 RGD:9068941
G Cic capicua transcriptional repressor JBrowse link NW_004955555 613,549 641,587 RGD:9068941
G Cit citron rho-interacting serine/threonine kinase JBrowse link NW_004955455 11,705,015 11,871,762 RGD:9068941
G Cldn11 claudin 11 JBrowse link NW_004955420 580,588 595,052 RGD:9068941
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase JBrowse link NW_004955451 16,115,137 16,119,261 RGD:9068941
G Col6a3 collagen type VI alpha 3 chain JBrowse link NW_004955542 2,869,183 2,950,569 RGD:9068941
G Crebbp CREB binding protein JBrowse link NW_004955442 13,559,496 13,691,913 RGD:9068941
G Dbn1 drebrin 1 JBrowse link NW_004955408 29,695,442 29,705,417 RGD:9068941
G Ddx3x DEAD-box helicase 3 X-linked JBrowse link NW_004955565 1,387,043 1,403,624 RGD:9068941
G Ddx41 DEAD-box helicase 41 JBrowse link NW_004955408 29,748,091 29,753,610 RGD:9068941
G Dkk3 dickkopf WNT signaling pathway inhibitor 3 JBrowse link NW_004955414 27,466,636 27,507,186 RGD:9068941
G Dlg4 discs large MAGUK scaffold protein 4 JBrowse link NW_004955467 9,691,733 9,715,872 RGD:9068941
G Dok3 docking protein 3 JBrowse link NW_004955408 29,740,606 29,747,986 RGD:9068941
G Dscaml1 DS cell adhesion molecule like 1 JBrowse link NW_004955412 18,708,444 19,022,538 RGD:9068941
G Dsp desmoplakin JBrowse link NW_004955465 6,356,970 6,391,206 RGD:9068941
G Ehmt1 euchromatic histone lysine methyltransferase 1 JBrowse link NW_004955513 5,491,446 5,642,559 RGD:9068941
G Eif4e1b eukaryotic translation initiation factor 4E family member 1B JBrowse link NW_004955408 28,910,141 28,913,692 RGD:9068941
G Emilin3 elastin microfibril interfacer 3 JBrowse link NW_004955445 15,590,996 15,599,813 RGD:9068941
G F12 coagulation factor XII JBrowse link NW_004955408 29,644,279 29,665,161 RGD:9068941
G Faf2 Fas associated factor family member 2 JBrowse link NW_004955408 28,737,597 28,797,143 RGD:9068941
G Fam193b family with sequence similarity 193 member B JBrowse link NW_004955408 29,756,057 29,788,349 RGD:9068941
G Fam83h family with sequence similarity 83 member H JBrowse link NW_004955454 2,421,393 2,436,012 RGD:9068941
G Fbn2 fibrillin 2 JBrowse link NW_004955415 1,307,553 1,535,435 RGD:9068941
G Fbxo11 F-box protein 11 JBrowse link NW_004955441 14,471,283 14,495,508 RGD:9068941
G Fgfr4 fibroblast growth factor receptor 4 JBrowse link NW_004955408 29,370,480 29,383,531 RGD:9068941
G Fkbp8 FKBP prolyl isomerase 8 JBrowse link NW_004955524 3,037,825 3,044,296 RGD:9068941
G Gabra1 gamma-aminobutyric acid type A receptor alpha1 subunit JBrowse link NW_004955408 15,608,984 15,662,309 RGD:9068941
G Glt8d2 glycosyltransferase 8 domain containing 2 JBrowse link NW_004955405 38,680,302 38,708,383 RGD:9068941
G Gprin1 G protein regulated inducer of neurite outgrowth 1 JBrowse link NW_004955408 28,871,379 28,884,961 RGD:9068941
G Grk6 G protein-coupled receptor kinase 6 JBrowse link NW_004955408 29,665,534 29,684,225 RGD:9068941
G Hdlbp high density lipoprotein binding protein JBrowse link NW_004955542 444,221 505,512 RGD:9068941
G Hk3 hexokinase 3 JBrowse link NW_004955408 29,132,717 29,149,030 RGD:9068941
G Kcnb1 potassium voltage-gated channel subfamily B member 1 JBrowse link NW_004955445 8,680,979 8,779,662 RGD:9068941
G Lman2 lectin, mannose binding 2 JBrowse link NW_004955408 29,581,737 29,597,240 RGD:9068941
G Med13l mediator complex subunit 13L JBrowse link NW_004955455 14,679,416 14,960,226 RGD:9068941
G Mettl11b methyltransferase like 11B JBrowse link NW_004955462 6,450,063 6,473,919 RGD:9068941
G Mtrex Mtr4 exosome RNA helicase JBrowse link NW_004955446 12,270,338 12,362,064 RGD:9068941
G Mxd3 MAX dimerization protein 3 JBrowse link NW_004955408 29,555,028 29,560,589 RGD:9068941
G Neu3 neuraminidase 3 JBrowse link NW_004955414 16,783,996 16,798,368 RGD:9068941
G Nf2 neurofibromin 2 JBrowse link NW_004955455 3,862,804 3,950,669 RGD:9068941
G Nfib nuclear factor I B JBrowse link NW_004955434 17,192,188 17,603,503 RGD:9068941
G Nfix nuclear factor I X JBrowse link NW_004955415 32,055,926 32,121,611 RGD:9068941
G Nsd1 nuclear receptor binding SET domain protein 1 JBrowse link NW_004955408 29,416,393 29,547,444 RGD:9068941
G Nup205 nucleoporin 205 JBrowse link NW_004955494 7,084,150 7,148,264 RGD:9068941
G Pah phenylalanine hydroxylase JBrowse link NW_004955405 37,848,486 37,909,163 RGD:9068941
G Pdlim7 PDZ and LIM domain 7 JBrowse link NW_004955408 29,718,830 29,734,085 RGD:9068941
G Pfn3 profilin 3 JBrowse link NW_004955408 29,642,186 29,642,993 RGD:9068941
G Picalm phosphatidylinositol binding clathrin assembly protein JBrowse link NW_004955414 6,871,220 6,970,569 RGD:9068941
G Pkd1l2 polycystin 1 like 2 JBrowse link NW_004955522 3,877,806 3,963,197 RGD:9068941
G Pnpla6 patatin like phospholipase domain containing 6 JBrowse link NW_004955563 1,681,112 1,703,287 RGD:9068941
G Prelid1 PRELI domain containing 1 JBrowse link NW_004955408 29,551,253 29,554,778 RGD:9068941
G Prr7 proline rich 7, synaptic JBrowse link NW_004955408 29,685,254 29,695,113 RGD:9068941
G Rab24 RAB24, member RAS oncogene family JBrowse link NW_004955408 29,548,839 29,551,184 RGD:9068941
G Ralgapb Ral GTPase activating protein non-catalytic beta subunit JBrowse link NW_004955445 18,146,316 18,241,128 RGD:9068941
G Ranbp10 RAN binding protein 10 JBrowse link NW_004955484 8,889,349 8,960,122 RGD:9068941
G Rgs14 regulator of G protein signaling 14 JBrowse link NW_004955408 29,602,654 29,616,793 RGD:9068941
G Rnf44 ring finger protein 44 JBrowse link NW_004955408 28,809,383 28,826,587 RGD:9068941
G Satb1 SATB homeobox 1 JBrowse link NW_004955430 10,587,539 10,683,887 RGD:9068941
G Scn2a sodium voltage-gated channel alpha subunit 2 JBrowse link NW_004955449 8,722,043 8,846,165 RGD:9068941
G Sidt1 SID1 transmembrane family member 1 JBrowse link NW_004955427 13,649,216 13,747,983 RGD:9068941
G Slc34a1 solute carrier family 34 member 1 JBrowse link NW_004955408 29,626,775 29,640,811 RGD:9068941
G Slc6a1 solute carrier family 6 member 1 JBrowse link NW_004955429 13,930,899 13,946,010 RGD:9068941
G Sncb synuclein beta JBrowse link NW_004955408 28,894,204 28,903,095 RGD:9068941
G Spag9 sperm associated antigen 9 JBrowse link NW_004955451 10,800,251 10,895,400 RGD:9068941
G Stk11 serine/threonine kinase 11 JBrowse link NW_004955495 6,678,195 6,699,408 RGD:9068941
G Syngap1 synaptic Ras GTPase activating protein 1 JBrowse link NW_004955437 1,950,559 1,981,004 RGD:9068941
G Taf1 TATA-box binding protein associated factor 1 JBrowse link NW_004955475 10,930,175 11,006,876 RGD:9068941
G Tapbpl TAP binding protein like JBrowse link NW_004955413 4,108,044 4,116,413 RGD:9068941
G Tbr1 T-box brain transcription factor 1 JBrowse link NW_004955449 12,293,534 12,301,440 RGD:9068941
G Tmed9 transmembrane p24 trafficking protein 9 JBrowse link NW_004955408 29,830,125 29,834,408 RGD:9068941
G Tpcn2 two pore segment channel 2 JBrowse link NW_004955422 16,899,730 16,923,962 RGD:9068941
G Tspan17 tetraspanin 17 JBrowse link NW_004955408 28,914,392 28,924,352 RGD:9068941
G Uimc1 ubiquitin interaction motif containing 1 JBrowse link NW_004955408 29,154,373 29,274,817 RGD:9068941
G Unc5a unc-5 netrin receptor A JBrowse link NW_004955408 29,071,812 29,132,744 RGD:9068941
G Wscd2 WSC domain containing 2 JBrowse link NW_004955455 9,433,628 9,549,862 RGD:9068941
G Zbtb18 zinc finger and BTB domain containing 18 JBrowse link NW_004955406 7,364,080 7,372,038 RGD:9068941
G Zbtb20 zinc finger and BTB domain containing 20 JBrowse link NW_004955427 14,409,700 15,231,495 RGD:9068941
G Zbtb46 zinc finger and BTB domain containing 46 JBrowse link NW_004955528 438,826 485,484 RGD:9068941
G Zeb2 zinc finger E-box binding homeobox 2 JBrowse link NW_004955440 10,755,658 10,881,044 RGD:9068941
G Znf346 zinc finger protein 346 JBrowse link NW_004955408 29,312,273 29,346,983 RGD:9068941
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 NW_004955486 9,495,087 9,508,047 RGD:9068941
G Actrt2 actin related protein T2 JBrowse link NW_004955486 8,465,523 8,466,841 RGD:9068941
G Agrn agrin JBrowse link NW_004955486 9,674,103 9,704,994 RGD:9068941
G Ankrd65 ankyrin repeat domain 65 JBrowse link NW_004955486 9,383,502 9,384,519 RGD:9068941
G Aurkaip1 aurora kinase A interacting protein 1 JBrowse link NW_004955486 9,437,511 9,438,945 RGD:9068941
G B3galt6 beta-1,3-galactosyltransferase 6 JBrowse link NW_004955486 9,553,765 9,555,675 RGD:9068941
G C1qtnf12 C1q and TNF related 12 JBrowse link NW_004955486 9,541,466 9,545,231 RGD:9068941
G Ccnl2 cyclin L2 JBrowse link NW_004955486 9,423,491 9,432,811 RGD:9068941
G Cdk11b cyclin dependent kinase 11B JBrowse link NW_004955486 9,251,242 9,270,218 RGD:9068941
G Cfap74 cilia and flagella associated protein 74 JBrowse link NW_004955486 9,056,836 9,107,572 RGD:9068941
G Cptp ceramide-1-phosphate transfer protein JBrowse link NW_004955486 9,475,520 9,478,925 RGD:9068941
G Dvl1 dishevelled segment polarity protein 1 JBrowse link NW_004955486 9,464,390 9,469,984 RGD:9068941
G Faap20 FA core complex associated protein 20 JBrowse link NW_004955486 8,938,352 8,944,631 RGD:9068941
G Fndc10 fibronectin type III domain containing 10 JBrowse link NW_004955486 9,301,802 9,303,246 RGD:9068941
G Gabrd gamma-aminobutyric acid type A receptor delta subunit JBrowse link NW_004955486 9,035,330 9,039,553 RGD:9068941
G Gnb1 G protein subunit beta 1 JBrowse link NW_004955486 9,165,850 9,192,306 RGD:9068941
G Hes5 hes family bHLH transcription factor 5 JBrowse link NW_004955486 8,700,212 8,701,581 RGD:9068941
G Ints11 integrator complex subunit 11 JBrowse link NW_004955486 9,479,057 9,491,629 RGD:9068941
G Kifbp kinesin family binding protein JBrowse link NW_004955437 22,015,112 22,040,439 RGD:9068941
G LOC102003555 chromosome unknown open reading frame, human C1orf159 JBrowse link NW_004955486 9,632,940 9,659,682 RGD:9068941
G Mib2 mindbomb E3 ubiquitin protein ligase 2 JBrowse link NW_004955486 9,273,580 9,285,682 RGD:9068941
G Mmel1 membrane metalloendopeptidase like 1 JBrowse link NW_004955486 8,635,727 8,662,793 RGD:9068941
G Mmp23b matrix metallopeptidase 23B JBrowse link NW_004955486 9,270,588 9,272,310 RGD:9068941
G Morn1 MORN repeat containing 1 JBrowse link NW_004955486 8,802,800 8,850,635 RGD:9068941
G Mrpl20 mitochondrial ribosomal protein L20 JBrowse link NW_004955486 9,417,925 9,420,789 RGD:9068941
G Mxra8 matrix remodeling associated 8 JBrowse link NW_004955486 9,452,707 9,456,640 RGD:9068941
G Nadk NAD kinase JBrowse link NW_004955486 9,191,923 9,217,547 RGD:9068941
G Pank4 pantothenate kinase 4 (inactive) JBrowse link NW_004955486 8,703,236 8,716,017 RGD:9068941
G Pex10 peroxisomal biogenesis factor 10 JBrowse link NW_004955486 8,785,199 8,801,914 RGD:9068941
G Plch2 phospholipase C eta 2 JBrowse link NW_004955486 8,717,799 8,785,144 RGD:9068941
G Prkcz protein kinase C zeta JBrowse link NW_004955486 8,947,579 9,021,702 RGD:9068941
G Prxl2b peroxiredoxin like 2B JBrowse link NW_004955486 8,663,708 8,666,369 RGD:9068941
G Pusl1 pseudouridine synthase like 1 JBrowse link NW_004955486 9,491,613 9,494,746 RGD:9068941
G Rer1 retention in endoplasmic reticulum sorting receptor 1 JBrowse link NW_004955486 8,791,457 8,802,691 RGD:9068941
G Rnf223 ring finger protein 223 JBrowse link NW_004955486 9,658,706 9,665,467 RGD:9068941
G Scnn1d sodium channel epithelial 1 delta subunit JBrowse link NW_004955486 9,508,435 9,514,107 RGD:9068941
G Sdf4 stromal cell derived factor 4 JBrowse link NW_004955486 9,555,773 9,565,310 RGD:9068941
G Ski SKI proto-oncogene JBrowse link NW_004955486 8,857,693 8,921,821 RGD:7240710
RGD:9068941
G Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase JBrowse link NW_004955486 9,317,078 9,338,414 RGD:9068941
G Tas1r3 taste 1 receptor member 3 JBrowse link NW_004955486 9,469,954 9,475,421 RGD:9068941
G Tmem240 transmembrane protein 240 JBrowse link NW_004955486 9,339,489 9,344,025 RGD:9068941
G Tmem52 transmembrane protein 52 JBrowse link NW_004955486 9,107,254 9,111,006 RGD:9068941
G Tmem88b transmembrane protein 88B JBrowse link NW_004955486 9,376,707 9,379,315 RGD:9068941
G Tnfrsf14 TNF receptor superfamily member 14 JBrowse link NW_004955486 8,670,182 8,684,677 RGD:9068941
G Tnfrsf18 TNF receptor superfamily member 18 JBrowse link NW_004955486 9,571,527 9,573,733 RGD:9068941
G Tnfrsf4 TNF receptor superfamily member 4 JBrowse link NW_004955486 9,565,424 9,569,836 RGD:9068941
G Ttc34 tetratricopeptide repeat domain 34 JBrowse link NW_004955486 8,620,609 8,633,069 RGD:9068941
G Ttll10 tubulin tyrosine ligase like 10 JBrowse link NW_004955486 9,576,174 9,589,297 RGD:9068941
G Ube2j2 ubiquitin conjugating enzyme E2 J2 JBrowse link NW_004955486 9,519,467 9,539,666 RGD:9068941
G Vwa1 von Willebrand factor A domain containing 1 JBrowse link NW_004955486 9,365,920 9,369,117 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11322
    syndrome 4664
      Marfan syndrome 199
        Cutis Laxa-Marfanoid Syndrome 0
        Loeys-Dietz syndrome + 30
        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 0
        Marfanoid Mental Retardation Syndrome, Autosomal 96
        Shprintzen-Goldberg Craniosynostosis 50
Path 2
Term Annotations click to browse term
  disease 11322
    Developmental Diseases 7929
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6856
        Congenital Abnormalities 3559
          Cardiovascular Abnormalities 951
            congenital heart disease 901
              Marfan syndrome 199
                Cutis Laxa-Marfanoid Syndrome 0
                Loeys-Dietz syndrome + 30
                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 0
                Marfanoid Mental Retardation Syndrome, Autosomal 96
                Shprintzen-Goldberg Craniosynostosis 50
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.