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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 11 34,289,603 34,323,160 RGD:9068941
G CEP152 centrosomal protein 152 JBrowse link 15 46,011,447 46,084,233 RGD:9068941
G COL1A2 collagen type I alpha 2 chain JBrowse link 7 99,935,185 99,971,810 RGD:9068941
G COL3A1 collagen type III alpha 1 chain JBrowse link 2B 194,204,613 194,242,956 RGD:9068941
G COL5A1 collagen type V alpha 1 chain JBrowse link 9 134,391,081 134,543,769 RGD:9068941
G COL5A2 collagen type V alpha 2 chain JBrowse link 2B 194,259,316 194,407,237 RGD:9068941
G CTXN2 cortexin 2 JBrowse link 15 45,451,781 45,477,041 RGD:9068941
G DUT deoxyuridine triphosphatase JBrowse link 15 45,604,061 45,616,022 RGD:9068941
G FBN1 fibrillin 1 JBrowse link 15 45,680,688 45,918,111 RGD:7240710
RGD:9068941
G FBN2 fibrillin 2 JBrowse link 5 129,435,248 129,715,699 RGD:9068941
G FLNA filamin A RGD:9068941
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 JBrowse link 11 2,498,001 2,902,198 RGD:9068941
G LAMC1 laminin subunit gamma 1 JBrowse link 1 162,700,704 162,822,534 RGD:9068941
G LTBP2 latent transforming growth factor beta binding protein 2 JBrowse link 14 73,899,154 74,012,203 RGD:9068941
G MMP12 matrix metallopeptidase 12 JBrowse link 11 101,294,469 101,306,762 RGD:9068941
G MMP14 matrix metallopeptidase 14 JBrowse link 14 21,753,305 21,764,061 RGD:9068941
G MMP2 matrix metallopeptidase 2 JBrowse link 16 54,817,228 54,844,279 RGD:9068941
G MMP9 matrix metallopeptidase 9 JBrowse link 20 43,432,389 43,440,129 RGD:9068941
G MUS81 MUS81 structure-specific endonuclease subunit JBrowse link 11 64,549,683 64,555,875 RGD:9068941
G MYEF2 myelin expression factor 2 JBrowse link 15 45,412,593 45,442,003 RGD:9068941
G MYH11 myosin heavy chain 11 JBrowse link 16 16,006,840 16,091,058 RGD:9068941
G MYLK myosin light chain kinase JBrowse link 3 127,612,369 127,831,009 RGD:9068941
G NOS2 nitric oxide synthase 2 JBrowse link 17 29,477,285 29,519,412 RGD:9068941
G NOTCH1 notch receptor 1 JBrowse link 9 136,544,639 136,595,511 RGD:9068941
G SEMA6D semaphorin 6D JBrowse link 15 44,877,322 45,050,169 RGD:9068941
G SKI SKI proto-oncogene JBrowse link 1 2,091,620 2,174,080 RGD:9068941
G SLC12A1 solute carrier family 12 member 1 JBrowse link 15 45,479,583 45,577,084 RGD:9068941
G SLC24A5 solute carrier family 24 member 5 JBrowse link 15 45,394,090 45,415,550 RGD:9068941
G SOD1 superoxide dismutase 1 JBrowse link 21 31,411,702 31,419,432 RGD:9068941
G SOD2 superoxide dismutase 2 JBrowse link 6 162,576,082 162,589,960 RGD:9068941
G TGFBR1 transforming growth factor beta receptor 1 JBrowse link 9 98,337,417 98,362,748 RGD:9068941
G TGFBR2 transforming growth factor beta receptor 2 JBrowse link 3 30,854,071 30,941,378 RGD:9068941
G TIMP2 TIMP metallopeptidase inhibitor 2 JBrowse link 17 78,476,807 78,495,885 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 2B 194,204,613 194,242,956 RGD:9068941
G COL5A1 collagen type V alpha 1 chain JBrowse link 9 134,391,081 134,543,769 RGD:9068941
G COL5A2 collagen type V alpha 2 chain JBrowse link 2B 194,259,316 194,407,237 RGD:9068941
G FBN1 fibrillin 1 JBrowse link 15 45,680,688 45,918,111 RGD:9068941
G FBN2 fibrillin 2 JBrowse link 5 129,435,248 129,715,699 RGD:9068941
G MYH11 myosin heavy chain 11 JBrowse link 16 16,006,840 16,091,058 RGD:9068941
G MYLK myosin light chain kinase JBrowse link 3 127,612,369 127,831,009 RGD:9068941
G SMAD3 SMAD family member 3 JBrowse link 15 64,284,949 64,414,185 RGD:9068941
G TGFB2 transforming growth factor beta 2 JBrowse link 1 198,758,718 198,856,853 RGD:9068941
G TGFB3 transforming growth factor beta 3 JBrowse link 14 75,359,505 75,382,412 RGD:9068941
G TGFBR1 transforming growth factor beta receptor 1 JBrowse link 9 98,337,417 98,362,748 RGD:9068941
G TGFBR2 transforming growth factor beta receptor 2 JBrowse link 3 30,854,071 30,941,378 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 9 98,337,417 98,362,748 RGD:7240710
RGD:9068941
G TGFBR2 transforming growth factor beta receptor 2 JBrowse link 3 30,854,071 30,941,378 RGD:9068941
Loeys-Dietz syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FBN1 fibrillin 1 JBrowse link 15 45,680,688 45,918,111 RGD:9068941
G TGFBR2 transforming growth factor beta receptor 2 JBrowse link 3 30,854,071 30,941,378 RGD:7240710
RGD:9068941
G TMPO thymopoietin JBrowse link 12 99,513,335 99,547,506 RGD:9068941
Loeys-Dietz syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SMAD3 SMAD family member 3 JBrowse link 15 64,284,949 64,414,185 RGD:7240710
RGD:9068941
G SMAD6 SMAD family member 6 JBrowse link 15 63,923,356 64,001,607 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 1 200,667,016 200,699,790 RGD:9068941
G C1H1orf115 chromosome 1 C1orf115 homolog JBrowse link 1 201,311,283 201,320,273 RGD:9068941
G DUSP10 dual specificity phosphatase 10 JBrowse link 1 202,366,333 202,407,020 RGD:9068941
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 JBrowse link 1 200,575,257 200,655,958 RGD:9068941
G ESRRG estrogen related receptor gamma JBrowse link 1 196,929,197 197,508,064 RGD:9068941
G GPATCH2 G-patch domain containing 2 JBrowse link 1 197,857,935 198,059,484 RGD:9068941
G HLX H2.0 like homeobox JBrowse link 1 201,500,470 201,506,222 RGD:9068941
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial JBrowse link 1 200,703,860 200,756,849 RGD:9068941
G KCTD3 potassium channel tetramerization domain containing 3 JBrowse link 1 195,992,828 196,047,013 RGD:9068941
G LYPLAL1 lysophospholipase like 1 JBrowse link 1 199,586,920 199,625,423 RGD:9068941
G MARK1 microtubule affinity regulating kinase 1 JBrowse link 1 201,150,316 201,286,201 RGD:9068941
G MTARC1 mitochondrial amidoxime reducing component 1 JBrowse link 1 201,407,483 201,435,186 RGD:9068941
G MTARC2 mitochondrial amidoxime reducing component 2 JBrowse link 1 201,368,306 201,405,602 RGD:9068941
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 JBrowse link 1 200,757,097 200,878,799 RGD:9068941
G RRP15 ribosomal RNA processing 15 homolog JBrowse link 1 198,698,849 198,745,011 RGD:9068941
G SLC30A10 solute carrier family 30 member 10 JBrowse link 1 200,521,746 200,536,317 RGD:9068941
G SPATA17 spermatogenesis associated 17 JBrowse link 1 198,059,692 198,285,900 RGD:9068941
G TGFB2 transforming growth factor beta 2 JBrowse link 1 198,758,718 198,856,853 RGD:7240710
RGD:9068941
G TGFB3 transforming growth factor beta 3 JBrowse link 14 75,359,505 75,382,412 RGD:9068941
G USH2A usherin JBrowse link 1 196,048,086 196,850,216 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 14 75,359,505 75,382,412 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 3 30,854,071 30,941,378 RGD:9068941
G TMPO thymopoietin JBrowse link 12 99,513,335 99,547,506 RGD:9068941
Lujan Fryns Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MED12 mediator complex subunit 12 JBrowse link X 70,443,467 70,467,178 RGD:7240710
RGD:9068941
Marfan Lipodystrophy Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FBN1 fibrillin 1 JBrowse link 15 45,680,688 45,918,111 RGD:9068941
RGD:7240710
Marfan Syndrome, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FBN1 fibrillin 1 JBrowse link 15 45,680,688 45,918,111 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 16 55,780,633 55,843,738 RGD:9068941
G APOB apolipoprotein B JBrowse link 2A 21,100,349 21,142,545 RGD:9068941
G ARID1B AT-rich interaction domain 1B JBrowse link 6 160,591,552 160,974,991 RGD:9068941
G ASXL3 ASXL transcriptional regulator 3 JBrowse link 18 30,403,023 30,546,237 RGD:9068941
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 JBrowse link 1 121,212,161 121,232,876 RGD:9068941
G ATXN2L ataxin 2 like JBrowse link 16 29,210,011 29,223,859 RGD:9068941
G B3GLCT beta 3-glucosyltransferase JBrowse link 13 30,913,127 31,038,347 RGD:9068941
G B4GALT7 beta-1,4-galactosyltransferase 7 JBrowse link 5 179,965,928 179,976,159 RGD:9068941
G BCL11A BAF chromatin remodeling complex subunit BCL11A JBrowse link 2A 61,695,613 61,795,818 RGD:9068941
G BEGAIN brain enriched guanylate kinase associated JBrowse link 14 100,471,147 100,484,789 RGD:9068941
G CDH5 cadherin 5 JBrowse link 16 65,787,426 65,825,360 RGD:9068941
G CDHR2 cadherin related family member 2 JBrowse link 5 178,916,707 178,963,944 RGD:9068941
G CDK13 cyclin dependent kinase 13 JBrowse link 7 44,177,940 44,324,319 RGD:9068941
G CERS2 ceramide synthase 2 JBrowse link 1 129,962,894 129,973,074 RGD:9068941
G CHD3 chromodomain helicase DNA binding protein 3 JBrowse link 17 7,910,644 7,934,285 RGD:9068941
G CHD8 chromodomain helicase DNA binding protein 8 JBrowse link 14 20,281,422 20,326,361 RGD:9068941
G CIC capicua transcriptional repressor JBrowse link 19 47,748,261 47,775,304 RGD:9068941
G CIT citron rho-interacting serine/threonine kinase JBrowse link 12 120,641,747 120,832,511 RGD:9068941
G CLDN11 claudin 11 JBrowse link 3 175,621,472 175,636,782 RGD:9068941
G CNP 2',3'-cyclic nucleotide 3' phosphodiesterase JBrowse link 17 15,560,056 15,569,108 RGD:9068941
G COL6A3 collagen type VI alpha 3 chain JBrowse link 2B 243,407,786 243,497,700 RGD:9068941
G CREBBP CREB binding protein JBrowse link 16 3,820,507 3,974,200 RGD:9068941
G DBN1 drebrin 1 JBrowse link 5 179,820,791 179,833,546 RGD:9068941
G DDX3X DEAD-box helicase 3, X-linked JBrowse link X 41,474,515 41,491,479 RGD:9068941
G DDX41 DEAD-box helicase 41 JBrowse link 5 179,874,281 179,880,685 RGD:9068941
G DKK3 dickkopf WNT signaling pathway inhibitor 3 JBrowse link 11 11,824,955 11,871,139 RGD:9068941
G DLG4 discs large MAGUK scaffold protein 4 JBrowse link 17 7,207,483 7,236,000 RGD:9068941
G DOK3 docking protein 3 JBrowse link 5 179,864,910 179,874,157 RGD:9068941
G DSCAML1 DS cell adhesion molecule like 1 JBrowse link 11 116,196,121 116,564,715 RGD:9068941
G DSP desmoplakin JBrowse link 6 7,664,399 7,709,391 RGD:9068941
G EHMT1 euchromatic histone lysine methyltransferase 1 JBrowse link 9 137,699,213 137,895,564 RGD:9068941
G EIF4E1B eukaryotic translation initiation factor 4E family member 1B JBrowse link 5 178,998,930 179,014,809 RGD:9068941
G EMILIN3 elastin microfibril interfacer 3 JBrowse link 20 38,797,882 38,803,065 RGD:9068941
G F12 coagulation factor XII JBrowse link 5 179,766,089 179,773,854 RGD:9068941
G FAF2 Fas associated factor family member 2 JBrowse link 5 178,813,998 178,875,208 RGD:9068941
G FAM193B family with sequence similarity 193 member B JBrowse link 5 179,881,778 179,915,942 RGD:9068941
G FAM83H family with sequence similarity 83 member H JBrowse link 8 143,491,221 143,499,243 RGD:9068941
G FBN2 fibrillin 2 JBrowse link 5 129,435,248 129,715,699 RGD:9068941
G FBXO11 F-box protein 11 JBrowse link 2A 48,849,746 48,948,007 RGD:9068941
G FGFR4 fibroblast growth factor receptor 4 JBrowse link 5 179,454,995 179,466,114 RGD:9068941
G FKBP8 FKBP prolyl isomerase 8 JBrowse link 19 18,980,269 18,992,170 RGD:9068941
G GABRA1 gamma-aminobutyric acid type A receptor alpha1 subunit JBrowse link 5 163,928,392 163,981,127 RGD:9068941
G GLT8D2 glycosyltransferase 8 domain containing 2 JBrowse link 12 104,961,397 105,036,590 RGD:9068941
G GPRIN1 G protein regulated inducer of neurite outgrowth 1 JBrowse link 5 178,964,458 178,967,802 RGD:9068941
G GRK6 G protein-coupled receptor kinase 6 JBrowse link 5 179,790,665 179,807,473 RGD:9068941
G HDLBP high density lipoprotein binding protein JBrowse link 2B 247,293,154 247,381,509 RGD:9068941
G HK3 hexokinase 3 JBrowse link 5 179,248,348 179,266,657 RGD:9068941
G KCNB1 potassium voltage-gated channel subfamily B member 1 JBrowse link 20 46,761,428 46,885,521 RGD:9068941
G LMAN2 lectin, mannose binding 2 JBrowse link 5 179,696,018 179,716,076 RGD:9068941
G LOC100977262 sodium channel protein type 2 subunit alpha JBrowse link 2B 169,873,992 170,026,392 RGD:9068941
G MED13L mediator complex subunit 13L JBrowse link 12 116,906,557 117,187,192 RGD:9068941
G METTL11B methyltransferase like 11B JBrowse link 1 149,352,738 149,374,488 RGD:9068941
G MTREX Mtr4 exosome RNA helicase JBrowse link 5 60,227,431 60,345,303 RGD:9068941
G MXD3 MAX dimerization protein 3 JBrowse link 5 179,673,221 179,679,289 RGD:9068941
G NEU3 neuraminidase 3 JBrowse link 11 73,353,332 73,373,270 RGD:9068941
G NF2 neurofibromin 2 JBrowse link 22 28,454,119 28,544,013 RGD:9068941
G NFIB nuclear factor I B JBrowse link 9 14,432,239 14,664,424 RGD:9068941
G NFIX nuclear factor I X JBrowse link 19 13,315,482 13,402,406 RGD:9068941
G NSD1 nuclear receptor binding SET domain protein 1 JBrowse link 5 179,499,866 179,666,351 RGD:9068941
G NUP205 nucleoporin 205 JBrowse link 7 140,042,087 140,119,175 RGD:9068941
G PAH phenylalanine hydroxylase JBrowse link 12 103,811,761 103,891,726 RGD:9068941
G PDLIM7 PDZ and LIM domain 7 JBrowse link 5 179,846,476 179,860,619 RGD:9068941
G PFN3 profilin 3 JBrowse link 5 179,764,057 179,764,580 RGD:9068941
G PICALM phosphatidylinositol binding clathrin assembly protein JBrowse link 11 84,619,241 84,730,516 RGD:9068941
G PKD1L2 polycystin 1 like 2 JBrowse link 16 81,134,136 81,253,092 RGD:9068941
G PNPLA6 patatin like phospholipase domain containing 6 JBrowse link 19 7,683,241 7,710,444 RGD:9068941
G PRELID1 PRELI domain containing 1 JBrowse link 5 179,669,885 179,672,965 RGD:9068941
G PRR7 proline rich 7, synaptic JBrowse link 5 179,818,184 179,820,471 RGD:9068941
G RAB24 RAB24, member RAS oncogene family JBrowse link 5 179,667,583 179,669,864 RGD:9068941
G RALGAPB Ral GTPase activating protein non-catalytic beta subunit JBrowse link 20 35,906,029 36,011,685 RGD:9068941
G RANBP10 RAN binding protein 10 JBrowse link 16 67,460,311 67,536,849 RGD:9068941
G RGS14 regulator of G protein signaling 14 JBrowse link 5 179,721,876 179,736,608 RGD:9068941
G RNF44 ring finger protein 44 JBrowse link 5 178,896,097 178,903,872 RGD:9068941
G SATB1 SATB homeobox 1 JBrowse link 3 18,602,204 18,700,696 RGD:9068941
G SIDT1 SID1 transmembrane family member 1 JBrowse link 3 117,596,224 117,692,704 RGD:9068941
G SLC34A1 solute carrier family 34 member 1 JBrowse link 5 179,748,492 179,762,804 RGD:9068941
G SLC6A1 solute carrier family 6 member 1 JBrowse link 3 11,296,014 11,323,624 RGD:9068941
G SNCB synuclein beta JBrowse link 5 178,988,314 178,998,805 RGD:9068941
G SPAG9 sperm associated antigen 9 JBrowse link 17 49,924,650 50,081,918 RGD:9068941
G STK11 serine/threonine kinase 11 JBrowse link 19 1,188,537 1,210,677 RGD:9068941
G SYNGAP1 synaptic Ras GTPase activating protein 1 JBrowse link 6 34,111,285 34,144,490 RGD:9068941
G TAF1 TATA-box binding protein associated factor 1 JBrowse link X 70,684,192 70,784,292 RGD:9068941
G TAPBPL TAP binding protein like JBrowse link 12 6,499,353 6,509,844 RGD:9068941
G TBR1 T-box brain transcription factor 1 JBrowse link 2B 166,079,344 166,089,098 RGD:9068941
G TMED9 transmembrane p24 trafficking protein 9 JBrowse link 5 179,957,842 179,961,840 RGD:9068941
G TPCN2 two pore segment channel 2 JBrowse link 11 67,438,635 67,478,106 RGD:9068941
G TSPAN17 tetraspanin 17 JBrowse link 5 179,015,641 179,030,941 RGD:9068941
G UIMC1 ubiquitin interaction motif containing 1 JBrowse link 5 179,272,208 179,390,215 RGD:9068941
G UNC5A unc-5 netrin receptor A JBrowse link 5 179,170,309 179,248,377 RGD:9068941
G WSCD2 WSC domain containing 2 JBrowse link 12 109,096,956 109,218,774 RGD:9068941
G ZBTB18 zinc finger and BTB domain containing 18 JBrowse link 1 225,042,282 225,050,259 RGD:9068941
G ZBTB20 zinc finger and BTB domain containing 20 JBrowse link 3 118,365,142 118,806,716 RGD:9068941
G ZBTB46 zinc finger and BTB domain containing 46 JBrowse link 20 61,667,319 61,770,196 RGD:9068941
G ZEB2 zinc finger E-box binding homeobox 2 JBrowse link 2B 148,460,904 148,596,500 RGD:9068941
G ZNF346 zinc finger protein 346 JBrowse link 5 179,390,239 179,449,071 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 1 1,248,155 1,263,111 RGD:9068941
G ACTRT2 actin related protein T2 JBrowse link 1 2,818,691 2,820,133 RGD:9068941
G AGRN agrin JBrowse link 1 953,977 967,946 RGD:9068941
G ANKRD65 ankyrin repeat domain 65 JBrowse link 1 1,374,418 1,377,467 RGD:9068941
G AURKAIP1 aurora kinase A interacting protein 1 JBrowse link 1 1,329,414 1,331,225 RGD:9068941
G B3GALT6 beta-1,3-galactosyltransferase 6 JBrowse link 1 1,188,683 1,191,648 RGD:9068941
G C1H1orf159 chromosome 1 C1orf159 homolog JBrowse link 1 997,350 1,034,180 RGD:9068941
G C1QTNF12 C1q and TNF related 12 JBrowse link 1 1,200,656 1,205,297 RGD:9068941
G CALML6 calmodulin like 6 JBrowse link 1 1,778,101 1,780,581 RGD:9068941
G CCNL2 cyclin L2 JBrowse link 1 1,343,608 1,355,392 RGD:9068941
G CFAP74 cilia and flagella associated protein 74 JBrowse link 1 1,785,210 1,869,228 RGD:9068941
G CPTP ceramide-1-phosphate transfer protein JBrowse link 1 1,281,504 1,285,620 RGD:9068941
G DVL1 dishevelled segment polarity protein 1 JBrowse link 1 1,292,052 1,300,006 RGD:9068941
G FNDC10 fibronectin type III domain containing 10 JBrowse link 1 1,519,622 1,521,256 RGD:9068941
G GABRD gamma-aminobutyric acid type A receptor delta subunit JBrowse link 1 1,883,955 1,895,102 RGD:9068941
G GNB1 G protein subunit beta 1 JBrowse link 1 1,647,764 1,753,106 RGD:9068941
G INTS11 integrator complex subunit 11 JBrowse link 1 1,266,581 1,281,430 RGD:9068941
G KIFBP kinesin family binding protein JBrowse link 10 67,989,492 68,017,898 RGD:9068941
G MIB2 mindbomb E3 ubiquitin protein ligase 2 JBrowse link 1 1,539,640 1,552,913 RGD:9068941
G MMEL1 membrane metalloendopeptidase like 1 JBrowse link 1 2,462,621 2,504,213 RGD:9068941
G MMP23B matrix metallopeptidase 23B JBrowse link 1 1,554,922 1,557,354 RGD:9068941
G MORN1 MORN repeat containing 1 JBrowse link 1 2,184,025 2,257,031 RGD:9068941
G MRPL20 mitochondrial ribosomal protein L20 JBrowse link 1 1,358,009 1,363,012 RGD:9068941
G MXRA8 matrix remodeling associated 8 JBrowse link 1 1,309,889 1,316,148 RGD:9068941
G NADK NAD kinase JBrowse link 1 1,619,261 1,642,269 RGD:9068941
G PANK4 pantothenate kinase 4 (inactive) JBrowse link 1 2,378,116 2,391,642 RGD:9068941
G PEX10 peroxisomal biogenesis factor 10 JBrowse link 1 2,270,698 2,278,401 RGD:9068941
G PLCH2 phospholipase C eta 2 JBrowse link 1 2,336,856 2,375,012 RGD:9068941
G PRKCZ protein kinase C zeta JBrowse link 1 1,918,653 2,046,236 RGD:9068941
G PRXL2B peroxiredoxin like 2B JBrowse link 1 2,457,130 2,463,858 RGD:9068941
G PUSL1 pseudouridine synthase like 1 JBrowse link 1 1,263,656 1,266,661 RGD:9068941
G RER1 retention in endoplasmic reticulum sorting receptor 1 JBrowse link 1 2,256,594 2,271,311 RGD:9068941
G RNF223 ring finger protein 223 JBrowse link 1 983,724 986,432 RGD:9068941
G SCNN1D sodium channel epithelial 1 delta subunit JBrowse link 1 1,239,074 1,248,062 RGD:9068941
G SDF4 stromal cell derived factor 4 JBrowse link 1 1,173,925 1,190,390 RGD:9068941
G SKI SKI proto-oncogene JBrowse link 1 2,091,620 2,174,080 RGD:7240710
RGD:9068941
G SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase JBrowse link 1 1,463,184 1,494,797 RGD:9068941
G TAS1R3 taste 1 receptor member 3 JBrowse link 1 1,287,841 1,292,094 RGD:9068941
G TMEM240 transmembrane protein 240 JBrowse link 1 1,456,731 1,462,005 RGD:9068941
G TMEM52 transmembrane protein 52 JBrowse link 1 1,780,877 1,782,570 RGD:9068941
G TMEM88B transmembrane protein 88B JBrowse link 1 1,381,365 1,382,070 RGD:9068941
G TNFRSF14 TNF receptor superfamily member 14 JBrowse link 1 2,427,421 2,435,615 RGD:9068941
G TNFRSF18 TNF receptor superfamily member 18 JBrowse link 1 1,160,540 1,163,839 RGD:9068941
G TNFRSF4 TNF receptor superfamily member 4 JBrowse link 1 1,168,706 1,171,341 RGD:9068941
G TTC34 tetratricopeptide repeat domain 34 JBrowse link 1 2,512,513 2,584,564 RGD:9068941
G TTLL10 tubulin tyrosine ligase like 10 JBrowse link 1 1,131,691 1,143,449 RGD:9068941
G UBE2J2 ubiquitin conjugating enzyme E2 J2 JBrowse link 1 1,211,502 1,231,813 RGD:9068941
G VWA1 von Willebrand factor A domain containing 1 JBrowse link 1 1,394,396 1,397,938 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12058
    syndrome 5222
      Marfan syndrome 198
        Cutis Laxa-Marfanoid Syndrome 0
        Loeys-Dietz syndrome + 32
        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 95
        Shprintzen-Goldberg Craniosynostosis 48
Path 2
Term Annotations click to browse term
  disease 12058
    Developmental Diseases 8433
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7284
        Congenital Abnormalities 3764
          Cardiovascular Abnormalities 993
            congenital heart disease 942
              Marfan syndrome 198
                Cutis Laxa-Marfanoid Syndrome 0
                Loeys-Dietz syndrome + 32
                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 95
                Shprintzen-Goldberg Craniosynostosis 48
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.