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ONTOLOGY REPORT - ANNOTATIONS
Term:Aneuploidy
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Accession:DOID:9008692 term browser browse the term
Definition:The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).
Synonyms:exact_synonym: Aneuploid;   Aneuploid Cell;   Aneuploid Cells;   Aneuploidies;   Aneuploids
 primary_id: MESH:D000782;   RDO:0000372
For additional species annotation, visit the Alliance of Genome Resources.

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Aneuploidy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aurka aurora kinase A JBrowse link 3 170,364,177 170,380,278 RGD:11554173
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B JBrowse link 3 110,367,949 110,420,471 RGD:1600540
G Ckap5 cytoskeleton associated protein 5 JBrowse link 3 80,424,320 80,526,583 RGD:11554173
G Kif11 kinesin family member 11 JBrowse link 1 256,035,866 256,088,299 RGD:11554173
G Tlx1 T-cell leukemia, homeobox 1 JBrowse link 1 264,893,033 264,899,424 RGD:11554173
G Trip13 thyroid hormone receptor interactor 13 JBrowse link 1 31,967,980 32,012,923 RGD:11554173
16p11.2 Deletion Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldoa aldolase, fructose-bisphosphate A JBrowse link 1 198,228,387 198,233,988 RGD:8554872
G Asphd1 aspartate beta-hydroxylase domain containing 1 JBrowse link 1 198,379,060 198,382,982 RGD:8554872
G Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase JBrowse link 1 198,409,186 198,413,497 RGD:8554872
G Coro1a coronin 1A JBrowse link 1 198,123,883 198,128,890 RGD:8554872
G Doc2a double C2 domain alpha JBrowse link 1 198,282,828 198,288,611 RGD:8554872
G Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 JBrowse link 1 198,199,032 198,209,178 RGD:8554872
G Hirip3 HIRA interacting protein 3 JBrowse link 1 198,298,138 198,301,164 RGD:8554872
G Ino80e INO80 complex subunit E JBrowse link 1 198,287,489 198,298,076 RGD:8554872
G Kctd13 potassium channel tetramerization domain containing 13 JBrowse link 1 198,360,627 198,378,935 RGD:8554872
G Kif22 kinesin family member 22 JBrowse link 1 198,461,406 198,476,430 RGD:8554872
G LOC308990 hypothetical protein LOC308990 JBrowse link 1 198,528,569 198,531,585 RGD:8554872
G Mapk3 mitogen activated protein kinase 3 JBrowse link 1 198,192,773 198,198,975 RGD:8554872
G Maz MYC associated zinc finger protein JBrowse link 1 198,456,699 198,460,126 RGD:8554872
G Mvp major vault protein JBrowse link 1 198,420,813 198,448,612 RGD:8554872
G Pagr1 Paxip1-associated glutamate-rich protein 1 JBrowse link 1 198,448,790 198,451,078 RGD:8554872
G Ppp4c protein phosphatase 4, catalytic subunit JBrowse link 1 198,219,012 198,225,775 RGD:8554872
G Prrt2 proline-rich transmembrane protein 2 JBrowse link 1 198,451,042 198,454,998 RGD:8554872
G Qprt quinolinate phosphoribosyltransferase JBrowse link 1 198,544,262 198,559,556 RGD:8554872
G RGD1563217 similar to RIKEN cDNA 4930451I11 JBrowse link 1 198,260,711 198,268,056 RGD:8554872
G Sez6l2 seizure related 6 homolog like 2 JBrowse link 1 198,383,201 198,403,544 RGD:8554872
G Spn sialophorin JBrowse link 1 198,572,999 198,585,664 RGD:8554872
G Taok2 TAO kinase 2 JBrowse link 1 198,301,789 198,354,601 RGD:8554872
G Tbx6 T-box transcription factor 6 JBrowse link 1 198,214,797 198,218,706 RGD:8554872
G Tlcd3b TLC domain containing 3B JBrowse link 1 198,252,208 198,265,840 RGD:8554872
G Tmem219 transmembrane protein 219 JBrowse link 1 198,322,276 198,360,552 RGD:8554872
G Ypel3 yippee-like 3 JBrowse link 1 198,210,525 198,213,821 RGD:8554872
G Zg16 zymogen granule protein 16 JBrowse link 1 198,483,800 198,486,157 RGD:8554872
16Q24.3 Microdeletion Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acsf3 acyl-CoA synthetase family member 3 JBrowse link 19 55,594,801 55,635,312 RGD:8554872
G Ankrd11 ankyrin repeat domain 11 JBrowse link 19 55,703,831 55,862,446 RGD:8554872
G Aprt adenine phosphoribosyl transferase JBrowse link 19 55,387,288 55,389,256 RGD:8554872
G Banp Btg3 associated nuclear protein JBrowse link 19 54,766,441 54,843,795 RGD:8554872
G Ca5a carbonic anhydrase 5A JBrowse link 19 54,731,829 54,761,697 RGD:8554872
G Cbfa2t3 CBFA2/RUNX1 partner transcriptional co-repressor 3 JBrowse link 19 55,438,409 55,510,652 RGD:8554872
G Cdh15 cadherin 15 JBrowse link 19 55,669,661 55,689,986 RGD:8554872
G Cdt1 chromatin licensing and DNA replication factor 1 JBrowse link 19 55,381,565 55,386,511 RGD:8554872
G Cpne7 copine 7 JBrowse link 19 55,929,555 55,946,251 RGD:8554872
G Ctu2 cytosolic thiouridylase subunit 2 JBrowse link 19 55,300,531 55,305,543 RGD:8554872
G Cyba cytochrome b-245 alpha chain JBrowse link 19 55,249,634 55,257,824 RGD:8554872
G Fbxo31 F-box protein 31 JBrowse link 19 53,487,610 53,625,673 RGD:8554872
G Galns galactosamine (N-acetyl)-6-sulfatase JBrowse link 19 55,391,004 55,423,328 RGD:8554872
G Il17c interleukin 17C JBrowse link 19 55,246,926 55,248,688 RGD:8554872
G Jph3 junctophilin 3 JBrowse link 19 54,553,419 54,613,477 RGD:8554872
G Klhdc4 kelch domain containing 4 JBrowse link 19 54,651,911 54,652,381 RGD:8554872
G LOC687560 hypothetical protein LOC687560 JBrowse link 19 53,467,806 53,481,093 RGD:8554872
G Map1lc3b microtubule-associated protein 1 light chain 3 beta JBrowse link 19 53,635,449 53,643,970 RGD:8554872
G Mvd mevalonate diphosphate decarboxylase JBrowse link 19 55,258,910 55,268,933 RGD:8554872
G Pabpn1l poly(A)binding protein nuclear 1-like JBrowse link 19 55,430,808 55,434,252 RGD:8554872
G Piezo1 piezo-type mechanosensitive ion channel component 1 JBrowse link 19 55,305,494 55,367,680 RGD:8554872
G Rnf166 ring finger protein 166 JBrowse link 19 55,290,563 55,300,403 RGD:8554872
G Rpl13 ribosomal protein L13 JBrowse link 19 55,917,489 55,920,040 RGD:8554872
G Slc7a5 solute carrier family 7 member 5 JBrowse link 19 54,693,959 54,722,563 RGD:8554872
G Snai3 snail family transcriptional repressor 3 JBrowse link 19 55,276,211 55,290,031 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
G Trappc2l trafficking protein particle complex 2-like JBrowse link 19 55,423,350 55,428,551 RGD:8554872
G Zc3h18 zinc finger CCCH-type containing 18 JBrowse link 19 55,197,348 55,241,800 RGD:8554872
G Zcchc14 zinc finger CCHC-type containing 14 JBrowse link 19 53,644,500 53,688,624 RGD:8554872
G Zfp26 zinc finger protein 26 JBrowse link 8 21,444,833 21,466,474 RGD:8554872
G Zfp469 zinc finger protein 469 JBrowse link 19 54,843,864 55,083,935 RGD:8554872
G Zfpm1 zinc finger protein, multitype 1 JBrowse link 19 55,094,585 55,150,994 RGD:8554872
1q24 Deletion Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abl2 ABL proto-oncogene 2, non-receptor tyrosine kinase JBrowse link 13 74,154,533 74,333,244 RGD:8554872
G Acbd6 acyl-CoA binding domain containing 6 JBrowse link 13 73,196,504 73,334,077 RGD:8554872
G Angptl1 angiopoietin-like 1 JBrowse link 13 74,456,487 74,463,031 RGD:8554872
G Ankrd45 ankyrin repeat domain 45 JBrowse link 13 78,973,578 79,000,356 RGD:8554872
G Astn1 astrotactin 1 JBrowse link 13 76,054,965 76,370,674 RGD:8554872
G Atp1b1 ATPase Na+/K+ transporting subunit beta 1 JBrowse link 13 82,737,161 82,757,681 RGD:8554872
G Axdnd1 axonemal dynein light chain domain containing 1 JBrowse link 13 73,950,422 74,025,237 RGD:8554872
G Blzf1 basic leucine zipper nuclear factor 1 JBrowse link 13 82,592,170 82,607,379 RGD:8554872
G Brinp2 BMP/retinoic acid inducible neural specific 2 JBrowse link 13 75,948,679 76,049,363 RGD:8554872
G Cacna1e calcium voltage-gated channel subunit alpha1 E JBrowse link 13 71,899,445 72,534,992 RGD:8554872
G Cacybp calcyclin binding protein JBrowse link 13 77,948,771 77,959,089 RGD:8554872
G Ccdc181 coiled-coil domain containing 181 JBrowse link 13 82,574,980 82,588,637 RGD:8554872
G Cenpl centromere protein L JBrowse link 13 78,886,092 78,901,025 RGD:8554872
G Cep350 centrosomal protein 350 JBrowse link 13 73,499,715 73,637,707 RGD:8554872
G Cop1 COP1, E3 ubiquitin ligase JBrowse link 13 76,942,883 77,076,015 RGD:8554872
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) JBrowse link 13 78,857,638 78,885,464 RGD:8554872
G Dhx9 DExH-box helicase 9 JBrowse link 13 70,885,503 70,922,278 RGD:8554872
G Dnm3 dynamin 3 JBrowse link 13 79,906,711 80,379,967 RGD:8554872
G Eef1aknmt eEF1A lysine and N-terminal methyltransferase JBrowse link 13 80,427,595 80,441,353 RGD:8554872
G F5 coagulation factor V JBrowse link 13 82,479,997 82,535,540 RGD:8554872
G Fam163a family with sequence similarity 163, member A JBrowse link 13 73,741,674 73,820,114 RGD:8554872
G Fam20b FAM20B, glycosaminoglycan xylosylkinase JBrowse link 13 74,280,173 74,333,463 RGD:8554872
G Faslg Fas ligand JBrowse link 13 79,696,811 79,717,581 RGD:8554872
G Fmo1 flavin containing dimethylaniline monoxygenase 1 JBrowse link 13 80,712,885 80,745,095 RGD:8554872
G Fmo2 flavin containing dimethylaniline monoxygenase 2 JBrowse link 13 80,752,526 80,775,264 RGD:8554872
G Fmo3 flavin containing dimethylaniline monoxygenase 3 JBrowse link 13 80,837,418 80,856,214 RGD:8554872
G Fmo4 flavin containing dimethylaniline monoxygenase 4 JBrowse link 13 80,685,385 80,703,575 RGD:8554872
G Gas5 growth arrest specific 5 JBrowse link 13 78,852,523 78,855,844 RGD:8554872
G Glul glutamate-ammonia ligase JBrowse link 13 71,331,052 71,340,207 RGD:8554872
G Gorab golgin, RAB6-interacting JBrowse link 13 81,682,207 81,698,827 RGD:8554872
G Gpr52 G protein-coupled receptor 52 JBrowse link 13 78,326,545 78,331,349 RGD:8554872
G Ier5 immediate early response 5 JBrowse link 13 72,742,210 72,744,302 RGD:8554872
G Kifap3 kinesin-associated protein 3 JBrowse link 13 82,072,497 82,217,256 RGD:8554872
G Klhl20 kelch-like family member 20 JBrowse link 13 78,912,361 78,957,226 RGD:8554872
G Lamc1 laminin subunit gamma 1 JBrowse link 13 70,656,727 70,783,515 RGD:8554872
G Lamc2 laminin subunit gamma 2 JBrowse link 13 70,566,643 70,632,126 RGD:8554872
G Lhx4 LIM homeobox 4 JBrowse link 13 73,348,874 73,400,416 RGD:8554872
G LOC100302372 hypothetical protein LOC100302372 JBrowse link 13 77,784,516 77,822,333 RGD:8554872
G LOC498265 similar to hypothetical protein FLJ10706 JBrowse link 13 82,254,516 82,298,467 RGD:8554872
G LOC684709 similar to putative membrane protein Re9 JBrowse link 13 71,304,452 71,308,203 RGD:8554872
G Mettl11b methyltransferase like 11B JBrowse link 13 81,987,877 82,027,781 RGD:8554872
G Mettl18 methyltransferase like 18 JBrowse link 13 82,298,534 82,300,763 RGD:8554872
G Mir199a2 microRNA 199a-2 JBrowse link 13 80,125,487 80,125,596 RGD:8554872
G Mir3120 microRNA 3120 JBrowse link 13 80,130,909 80,131,025 RGD:8554872
G Mr1 major histocompatibility complex, class I-related JBrowse link 13 72,771,992 72,789,861 RGD:8554872
G Mroh9 maestro heat-like repeat family member 9 JBrowse link 13 80,928,982 80,986,373 RGD:8554872
G Mrps14 mitochondrial ribosomal protein S14 JBrowse link 13 77,940,454 77,946,201 RGD:8554872
G Myoc myocilin JBrowse link 13 80,517,531 80,527,928 RGD:8554872
G Ncf2 neutrophil cytosolic factor 2 JBrowse link 13 70,226,441 70,259,019 RGD:8554872
G Nme7 NME/NM23 family member 7 JBrowse link 13 82,607,844 82,737,383 RGD:8554872
G Nmnat2 nicotinamide nucleotide adenylyltransferase 2 JBrowse link 13 70,379,346 70,559,311 RGD:8554872
G Nphs2 NPHS2 stomatin family member, podocin JBrowse link 13 73,929,136 73,941,522 RGD:8554872
G Npl N-acetylneuraminate pyruvate lyase JBrowse link 13 70,938,073 70,981,179 RGD:8554872
G Pappa2 pappalysin 2 JBrowse link 13 76,389,150 76,660,248 RGD:8554872
G Pigc phosphatidylinositol glycan anchor biosynthesis, class C JBrowse link 13 79,886,832 79,889,305 RGD:8554872
G Prdx6 peroxiredoxin 6 JBrowse link 13 79,077,567 79,088,113 RGD:8554872
G Prrc2c proline-rich coiled-coil 2C JBrowse link 13 80,544,789 80,614,925 RGD:8554872
G Prrx1 paired related homeobox 1 JBrowse link 13 81,147,038 81,215,559 RGD:8554872
G Qsox1 quiescin sulfhydryl oxidase 1 JBrowse link 13 73,423,396 73,460,890 RGD:8554872
G Rabgap1l RAB GTPase activating protein 1-like JBrowse link 13 77,975,392 78,609,009 RGD:8554872
G Ralgps2 Ral GEF with PH domain and SH3 binding motif 2 JBrowse link 13 74,446,001 74,520,640 RGD:8554872
G Rasal2 RAS protein activator like 2 JBrowse link 13 74,770,557 75,059,298 RGD:8554872
G Rc3h1 ring finger and CCCH-type domains 1 JBrowse link 13 78,723,028 78,794,663 RGD:8554872
G RGD1304622 similar to 6820428L09 protein JBrowse link 13 72,860,313 72,900,020 RGD:8554872
G RGD1309106 similar to hypothetical protein JBrowse link 13 79,856,479 79,901,830 RGD:8554872
G Rgs16 regulator of G-protein signaling 16 JBrowse link 13 71,163,411 71,185,147 RGD:8554872
G Rgs8 regulator of G-protein signaling 8 JBrowse link 13 71,086,654 71,141,820 RGD:8554872
G Rgsl1 regulator of G-protein signaling like 1 JBrowse link 13 71,206,268 71,276,799 RGD:8554872
G Rnasel ribonuclease L JBrowse link 13 71,188,712 71,202,636 RGD:8554872
G Scyl3 SCY1 like pseudokinase 3 JBrowse link 13 82,230,938 82,255,640 RGD:8554872
G Sec16b SEC16 homolog B, endoplasmic reticulum export factor JBrowse link 13 75,153,074 75,216,941 RGD:8554872
G Sele selectin E JBrowse link 13 82,355,234 82,365,323 RGD:8554872
G Sell selectin L JBrowse link 13 82,369,820 82,387,774 RGD:8554872
G Selp selectin P JBrowse link 13 82,428,914 82,464,629 RGD:8554872
G Serpinc1 serpin family C member 1 JBrowse link 13 78,806,107 78,820,375 RGD:8554872
G Shcbp1l SHC binding and spindle associated 1 like JBrowse link 13 70,852,044 70,882,336 RGD:8554872
G Slc19a2 solute carrier family 19 member 2 JBrowse link 13 82,552,586 82,566,586 RGD:8554872
G Slc9c2 solute carrier family 9, member C2 (putative) JBrowse link 13 79,000,368 79,073,060 RGD:8554872
G Smg7 SMG7 nonsense mediated mRNA decay factor JBrowse link 13 70,258,919 70,321,886 RGD:8554872
G Soat1 sterol O-acyltransferase 1 JBrowse link 13 74,035,258 74,077,759 RGD:8554872
G Stx6 syntaxin 6 JBrowse link 13 72,804,218 72,850,757 RGD:8554872
G Suco SUN domain containing ossification factor JBrowse link 13 79,736,485 79,801,133 RGD:8554872
G Tdrd5 tudor domain containing 5 JBrowse link 13 73,872,637 73,922,640 RGD:8554872
G Tex35 testis expressed 35 JBrowse link 13 74,729,455 74,740,685 RGD:8554872
G Tnfsf18 TNF superfamily member 18 JBrowse link 13 79,378,412 79,388,687 RGD:8554872
G Tnfsf4 TNF superfamily member 4 JBrowse link 13 79,269,973 79,293,775 RGD:8554872
G Tnn tenascin N JBrowse link 13 77,829,384 77,896,831 RGD:8554872
G Tnr tenascin R JBrowse link 13 77,602,249 77,678,385 RGD:8554872
G Tor1aip1 torsin 1A interacting protein 1 JBrowse link 13 73,670,649 73,704,668 RGD:8554872
G Tor1aip2 torsin 1A interacting protein 2 JBrowse link 13 73,704,088 73,735,339 RGD:8554872
G Tor3a torsin family 3, member A JBrowse link 13 74,246,504 74,277,694 RGD:8554872
G Vamp4 vesicle-associated membrane protein 4 JBrowse link 13 80,460,699 80,483,597 RGD:8554872
G Xpr1 xenotropic and polytropic retrovirus receptor 1 JBrowse link 13 72,918,552 73,056,785 RGD:8554872
G Zbtb37 zinc finger and BTB domain containing 37 JBrowse link 13 78,836,491 78,852,224 RGD:8554872
G Zfp648 zinc finger protein 648 JBrowse link 13 71,652,464 71,659,187 RGD:8554872
22q11 Deletion Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf8 fibroblast growth factor 8 JBrowse link 1 265,492,949 265,498,965 RGD:11554173
G Six1 SIX homeobox 1 JBrowse link 6 95,929,060 95,934,296 RGD:11561941
autosomal dominant non-syndromic intellectual disability 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zbtb18 zinc finger and BTB domain containing 18 JBrowse link 13 95,582,234 95,593,316 RGD:7240710
RGD:8554872
chromosome 10q23 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmpr1a bone morphogenetic protein receptor type 1A JBrowse link 16 10,758,278 10,852,170 RGD:13592920
Chromosome 13q Deletion Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acod1 aconitate decarboxylase 1 JBrowse link 15 93,612,968 93,622,322 RGD:8554872
G Alg11 ALG11, alpha-1,2-mannosyltransferase JBrowse link 16 74,854,007 74,866,096 RGD:8554872
G Arl11 ADP-ribosylation factor like GTPase 11 JBrowse link 15 41,639,985 41,645,685 RGD:8554872
G Atp7b ATPase copper transporting beta JBrowse link 16 74,865,516 74,944,935 RGD:8554872
G Bora bora, aurora kinase A activator JBrowse link 15 83,442,217 83,463,737 RGD:8554872
G Cab39l calcium binding protein 39-like JBrowse link 15 39,745,124 39,849,022 RGD:8554872
G Ccdc70 coiled-coil domain containing 70 JBrowse link 16 74,958,897 74,963,925 RGD:8554872
G Cdadc1 cytidine and dCMP deaminase domain containing 1 JBrowse link 15 39,865,094 39,894,122 RGD:8554872
G Ckap2 cytoskeleton associated protein 2 JBrowse link 16 74,752,655 74,779,184 RGD:8554872
G Cln5 CLN5, intracellular trafficking protein JBrowse link 15 93,634,815 93,644,146 RGD:8554872
G Cnmd chondromodulin JBrowse link 15 61,923,291 61,947,840 RGD:8554872
G Commd6 COMM domain containing 6 JBrowse link 15 86,136,096 86,142,672 RGD:8554872
G Cysltr2 cysteinyl leukotriene receptor 2 JBrowse link 15 54,903,290 54,941,742 RGD:8554872
G Dach1 dachshund family transcription factor 1 JBrowse link 15 82,095,003 82,482,272 RGD:8554872
G Diaph3 diaphanous-related formin 3 JBrowse link 15 69,928,507 70,400,077 RGD:8554872
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease JBrowse link 15 83,466,330 83,494,107 RGD:8554872
G Dleu7 deleted in lymphocytic leukemia, 7 JBrowse link 15 45,360,505 45,378,840 RGD:8554872
G Ebpl EBP like JBrowse link 15 41,668,119 41,691,518 RGD:8554872
G Ednrb endothelin receptor type B JBrowse link 15 88,004,775 88,036,354 RGD:8554872
G Fam124a family with sequence similarity 124 member A JBrowse link 15 45,711,994 45,780,395 RGD:8554872
G Fbxl3 F-box and leucine-rich repeat protein 3 JBrowse link 15 93,647,307 93,667,395 RGD:8554872
G Fndc3a fibronectin type III domain containing 3a JBrowse link 15 54,378,865 54,582,954 RGD:8554872
G Ints6 integrator complex subunit 6 JBrowse link 15 45,844,050 45,929,996 RGD:8554872
G Itm2b integral membrane protein 2B JBrowse link 15 55,254,703 55,277,713 RGD:8554872
G Kcnrg potassium channel regulator JBrowse link 15 41,937,880 41,942,205 RGD:8554872
G Kctd12 potassium channel tetramerization domain containing 12 JBrowse link 15 87,384,632 87,390,627 RGD:8554872
G Klf12 Kruppel-like factor 12 JBrowse link 15 84,316,986 84,748,549 RGD:8554872
G Klf5 Kruppel-like factor 5 JBrowse link 15 83,703,796 83,722,921 RGD:8554872
G Klhl1 kelch-like family member 1 JBrowse link 15 80,270,846 80,714,176 RGD:8554872
G Kpna3 karyopherin subunit alpha 3 JBrowse link 15 41,696,356 41,770,112 RGD:8554872
G Lmo7 LIM domain 7 JBrowse link 15 86,242,911 86,458,512 RGD:8554872
G Lpar6 lysophosphatidic acid receptor 6 JBrowse link 15 55,126,953 55,128,762 RGD:8554872
G Med4 mediator complex subunit 4 JBrowse link 15 55,406,543 55,416,816 RGD:8554872
G Mycbp2 MYC binding protein 2 JBrowse link 15
15		 87,405,472
93,678,062		 87,450,812
93,901,556		 RGD:8554872
G Mzt1 mitotic spindle organizing protein 1 JBrowse link 15 83,429,437 83,442,118 RGD:8554872
G Ndfip2 Nedd4 family interacting protein 2 JBrowse link 15 89,407,426 89,458,983 RGD:8554872
G Nek3 NIMA-related kinase 3 JBrowse link 16 74,781,371 74,806,567 RGD:8554872
G Nek5 NIMA-related kinase 5 JBrowse link 16 74,809,513 74,851,895 RGD:8554872
G Nudt15 nudix hydrolase 15 JBrowse link 15 55,417,774 55,456,698 RGD:8554872
G Obi1 ORC ubiquitin ligase 1 JBrowse link 15 88,632,089 88,670,325 RGD:8554872
G Olfm4 olfactomedin 4 JBrowse link 15 62,384,263 62,429,450 RGD:8554872
G Pcdh17 protocadherin 17 JBrowse link 15 67,555,835 67,647,990 RGD:8554872
G Pcdh20 protocadherin 20 JBrowse link 15 71,772,777 71,779,033 RGD:8554872
G Pcdh8 protocadherin 8 JBrowse link 15 62,196,469 62,201,498 RGD:8554872
G Pcdh9 protocadherin 9 JBrowse link 15 76,787,108 77,738,668 RGD:8554872
G Phf11 PHD finger protein 11 JBrowse link 15 38,692,817 39,683,417 RGD:8554872
G Pibf1 progesterone immunomodulatory binding factor 1 JBrowse link 15 83,494,110 83,663,202 RGD:8554872
G Pou4f1 POU class 4 homeobox 1 JBrowse link 15 88,618,255 88,622,712 RGD:8554872
G Prr20e proline rich 20E JBrowse link 4 121,040,810 121,053,910 RGD:8554872
G Rb1 RB transcriptional corepressor 1 JBrowse link 15 55,081,582 55,209,060 RGD:8554872
G Rbm26 RNA binding motif protein 26 JBrowse link 15 89,262,683 89,339,323 RGD:8554872
G Rcbtb1 RCC1 and BTB domain containing protein 1 JBrowse link 15 39,622,572 39,665,335 RGD:8554872
G Rcbtb2 RCC1 and BTB domain containing protein 2 JBrowse link 15 55,029,388 55,074,728 RGD:8554872
G Rnaseh2b ribonuclease H2, subunit B JBrowse link 15 45,422,010 45,472,792 RGD:8554872
G Scel sciellin JBrowse link 15 87,689,190 87,820,731 RGD:8554872
G Serpine3 serpin family E member 3 JBrowse link 15 45,827,983 45,855,952 RGD:8554872
G Setdb2 SET domain bifurcated histone lysine methyltransferase 2 JBrowse link 15 38,699,135 39,745,035 RGD:8554872
G Slain1 SLAIN motif family, member 1 JBrowse link 15 87,862,832 87,906,472 RGD:8554872
G Slitrk1 SLIT and NTRK-like family, member 1 JBrowse link 15 93,303,382 93,307,420 RGD:8554872
G Slitrk6 SLIT and NTRK-like family, member 6 JBrowse link 15 95,507,632 95,514,259 RGD:8554872
G Spry2 sprouty RTK signaling antagonist 2 JBrowse link 15 90,172,769 90,177,823 RGD:8554872
G Spryd7 SPRY domain containing 7 JBrowse link 15 41,871,144 41,890,879 RGD:8554872
G Sucla2 succinate-CoA ligase ADP-forming subunit beta JBrowse link 15 55,461,695 55,516,954 RGD:8554872
G Sugt1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone JBrowse link 15 61,873,158 61,913,983 RGD:8554872
G Tbc1d4 TBC1 domain family, member 4 JBrowse link 15 85,927,978 86,105,829 RGD:8554872
G Tdrd3 tudor domain containing 3 JBrowse link 15 70,732,164 70,864,855 RGD:8554872
G Thsd1 thrombospondin type 1 domain containing 1 JBrowse link 16 74,680,621 74,712,368 RGD:8554872
G Trim13 tripartite motif-containing 13 JBrowse link 15 41,897,191 41,936,545 RGD:8554872
G Uchl3 ubiquitin C-terminal hydrolase L3 JBrowse link 15 86,153,624 86,198,127 RGD:8554872
G Vps36 vacuolar protein sorting 36 homolog JBrowse link 16 74,719,642 74,743,921 RGD:8554872
G Wdfy2 WD repeat and FYVE domain containing 2 JBrowse link 15 46,008,613 46,134,319 RGD:8554872
chromosome 13q14 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acod1 aconitate decarboxylase 1 JBrowse link 15 93,612,968 93,622,322 RGD:8554872
G Alg11 ALG11, alpha-1,2-mannosyltransferase JBrowse link 16 74,854,007 74,866,096 RGD:8554872
G Arl11 ADP-ribosylation factor like GTPase 11 JBrowse link 15 41,639,985 41,645,685 RGD:8554872
G Atp7b ATPase copper transporting beta JBrowse link 16 74,865,516 74,944,935 RGD:8554872
G Bora bora, aurora kinase A activator JBrowse link 15 83,442,217 83,463,737 RGD:8554872
G Cab39l calcium binding protein 39-like JBrowse link 15 39,745,124 39,849,022 RGD:8554872
G Ccdc70 coiled-coil domain containing 70 JBrowse link 16 74,958,897 74,963,925 RGD:8554872
G Cdadc1 cytidine and dCMP deaminase domain containing 1 JBrowse link 15 39,865,094 39,894,122 RGD:8554872
G Ckap2 cytoskeleton associated protein 2 JBrowse link 16 74,752,655 74,779,184 RGD:8554872
G Cln5 CLN5, intracellular trafficking protein JBrowse link 15 93,634,815 93,644,146 RGD:8554872
G Cnmd chondromodulin JBrowse link 15 61,923,291 61,947,840 RGD:8554872
G Commd6 COMM domain containing 6 JBrowse link 15 86,136,096 86,142,672 RGD:8554872
G Cysltr2 cysteinyl leukotriene receptor 2 JBrowse link 15 54,903,290 54,941,742 RGD:8554872
G Dach1 dachshund family transcription factor 1 JBrowse link 15 82,095,003 82,482,272 RGD:8554872
G Diaph3 diaphanous-related formin 3 JBrowse link 15 69,928,507 70,400,077 RGD:8554872
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease JBrowse link 15 83,466,330 83,494,107 RGD:8554872
G Dleu7 deleted in lymphocytic leukemia, 7 JBrowse link 15 45,360,505 45,378,840 RGD:8554872
G Ebpl EBP like JBrowse link 15 41,668,119 41,691,518 RGD:8554872
G Ednrb endothelin receptor type B JBrowse link 15 88,004,775 88,036,354 RGD:8554872
G Fam124a family with sequence similarity 124 member A JBrowse link 15 45,711,994 45,780,395 RGD:8554872
G Fbxl3 F-box and leucine-rich repeat protein 3 JBrowse link 15 93,647,307 93,667,395 RGD:8554872
G Fndc3a fibronectin type III domain containing 3a JBrowse link 15 54,378,865 54,582,954 RGD:8554872
G Ints6 integrator complex subunit 6 JBrowse link 15 45,844,050 45,929,996 RGD:8554872
G Itm2b integral membrane protein 2B JBrowse link 15 55,254,703 55,277,713 RGD:8554872
G Kcnrg potassium channel regulator JBrowse link 15 41,937,880 41,942,205 RGD:8554872
G Kctd12 potassium channel tetramerization domain containing 12 JBrowse link 15 87,384,632 87,390,627 RGD:8554872
G Klf12 Kruppel-like factor 12 JBrowse link 15 84,316,986 84,748,549 RGD:8554872
G Klf5 Kruppel-like factor 5 JBrowse link 15 83,703,796 83,722,921 RGD:8554872
G Klhl1 kelch-like family member 1 JBrowse link 15 80,270,846 80,714,176 RGD:8554872
G Kpna3 karyopherin subunit alpha 3 JBrowse link 15 41,696,356 41,770,112 RGD:8554872
G Lmo7 LIM domain 7 JBrowse link 15 86,242,911 86,458,512 RGD:8554872
G Lpar6 lysophosphatidic acid receptor 6 JBrowse link 15 55,126,953 55,128,762 RGD:8554872
G Med4 mediator complex subunit 4 JBrowse link 15 55,406,543 55,416,816 RGD:8554872
G Mycbp2 MYC binding protein 2 JBrowse link 15
15		 87,405,472
93,678,062		 87,450,812
93,901,556		 RGD:8554872
G Mzt1 mitotic spindle organizing protein 1 JBrowse link 15 83,429,437 83,442,118 RGD:8554872
G Ndfip2 Nedd4 family interacting protein 2 JBrowse link 15 89,407,426 89,458,983 RGD:8554872
G Nek3 NIMA-related kinase 3 JBrowse link 16 74,781,371 74,806,567 RGD:8554872
G Nek5 NIMA-related kinase 5 JBrowse link 16 74,809,513 74,851,895 RGD:8554872
G Nudt15 nudix hydrolase 15 JBrowse link 15 55,417,774 55,456,698 RGD:8554872
G Obi1 ORC ubiquitin ligase 1 JBrowse link 15 88,632,089 88,670,325 RGD:8554872
G Olfm4 olfactomedin 4 JBrowse link 15 62,384,263 62,429,450 RGD:8554872
G Pcdh17 protocadherin 17 JBrowse link 15 67,555,835 67,647,990 RGD:8554872
G Pcdh20 protocadherin 20 JBrowse link 15 71,772,777 71,779,033 RGD:8554872
G Pcdh8 protocadherin 8 JBrowse link 15 62,196,469 62,201,498 RGD:8554872
G Pcdh9 protocadherin 9 JBrowse link 15 76,787,108 77,738,668 RGD:8554872
G Phf11 PHD finger protein 11 JBrowse link 15 38,692,817 39,683,417 RGD:8554872
G Pibf1 progesterone immunomodulatory binding factor 1 JBrowse link 15 83,494,110 83,663,202 RGD:8554872
G Pou4f1 POU class 4 homeobox 1 JBrowse link 15 88,618,255 88,622,712 RGD:8554872
G Prr20e proline rich 20E JBrowse link 4 121,040,810 121,053,910 RGD:8554872
G Rb1 RB transcriptional corepressor 1 JBrowse link 15 55,081,582 55,209,060 RGD:8554872
G Rbm26 RNA binding motif protein 26 JBrowse link 15 89,262,683 89,339,323 RGD:8554872
G Rcbtb1 RCC1 and BTB domain containing protein 1 JBrowse link 15 39,622,572 39,665,335 RGD:8554872
G Rcbtb2 RCC1 and BTB domain containing protein 2 JBrowse link 15 55,029,388 55,074,728 RGD:8554872
G Rnaseh2b ribonuclease H2, subunit B JBrowse link 15 45,422,010 45,472,792 RGD:8554872
G Scel sciellin JBrowse link 15 87,689,190 87,820,731 RGD:8554872
G Serpine3 serpin family E member 3 JBrowse link 15 45,827,983 45,855,952 RGD:8554872
G Setdb2 SET domain bifurcated histone lysine methyltransferase 2 JBrowse link 15 38,699,135 39,745,035 RGD:8554872
G Slain1 SLAIN motif family, member 1 JBrowse link 15 87,862,832 87,906,472 RGD:8554872
G Slitrk1 SLIT and NTRK-like family, member 1 JBrowse link 15 93,303,382 93,307,420 RGD:8554872
G Slitrk6 SLIT and NTRK-like family, member 6 JBrowse link 15 95,507,632 95,514,259 RGD:8554872
G Spry2 sprouty RTK signaling antagonist 2 JBrowse link 15 90,172,769 90,177,823 RGD:8554872
G Spryd7 SPRY domain containing 7 JBrowse link 15 41,871,144 41,890,879 RGD:8554872
G Sucla2 succinate-CoA ligase ADP-forming subunit beta JBrowse link 15 55,461,695 55,516,954 RGD:8554872
G Sugt1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone JBrowse link 15 61,873,158 61,913,983 RGD:8554872
G Tbc1d4 TBC1 domain family, member 4 JBrowse link 15 85,927,978 86,105,829 RGD:8554872
G Tdrd3 tudor domain containing 3 JBrowse link 15 70,732,164 70,864,855 RGD:8554872
G Thsd1 thrombospondin type 1 domain containing 1 JBrowse link 16 74,680,621 74,712,368 RGD:8554872
G Trim13 tripartite motif-containing 13 JBrowse link 15 41,897,191 41,936,545 RGD:8554872
G Uchl3 ubiquitin C-terminal hydrolase L3 JBrowse link 15 86,153,624 86,198,127 RGD:8554872
G Vps36 vacuolar protein sorting 36 homolog JBrowse link 16 74,719,642 74,743,921 RGD:8554872
G Wdfy2 WD repeat and FYVE domain containing 2 JBrowse link 15 46,008,613 46,134,319 RGD:8554872
chromosome 15q11.2 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp10a ATPase phospholipid transporting 10A (putative) JBrowse link 1 115,973,343 116,141,892 RGD:8554872
G Auts2 activator of transcription and developmental regulator AUTS2 JBrowse link 12 27,155,362 28,252,752 RGD:8554872
G Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 JBrowse link 1 112,833,941 112,947,482 RGD:8554872
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 JBrowse link 1 113,034,251 113,265,364 RGD:8554872
G Gabrg3 gamma-aminobutyric acid type A receptor subunit gamma 3 JBrowse link 1 112,158,525 112,812,267 RGD:8554872
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 JBrowse link 1 114,453,033 114,653,787 RGD:8554872
G Magel2 MAGE family member L2 JBrowse link 1 123,015,404 123,019,945 RGD:8554872
G Mkrn3 makorin, ring finger protein, 3 JBrowse link 1 123,062,049 123,064,763 RGD:8554872
G Ndn necdin, MAGE family member JBrowse link 1 122,981,755 122,983,354 RGD:8554872
G Oca2 OCA2 melanosomal transmembrane protein JBrowse link 1 114,661,970 114,987,433 RGD:8554872
G Snrpn small nuclear ribonucleoprotein polypeptide N JBrowse link 1 195,074,328 195,096,460 RGD:8554872
G Snurf SNRPN upstream reading frame JBrowse link 1 195,074,328 195,096,694 RGD:8554872
G Ube3a ubiquitin protein ligase E3A JBrowse link 1 116,586,901 116,678,161 RGD:8554872
chromosome 15q13.3 microdeletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit JBrowse link 1 123,897,341 124,039,263 RGD:8554872
RGD:11554173
G Fan1 FANCD2 and FANCI associated nuclease 1 JBrowse link 1 125,182,117 125,209,772 RGD:8554872
G Klf13 Kruppel-like factor 13 JBrowse link 1 124,772,596 124,803,363 RGD:8554872
RGD:11554173
G Mir211 microRNA 211 JBrowse link 1 125,042,119 125,042,224 RGD:8554872
G Mtmr10 myotubularin related protein 10 JBrowse link 1 125,124,743 125,175,857 RGD:8554872
G Otud7a OTU deubiquitinase 7A JBrowse link 1 124,311,873 124,655,437 RGD:8554872
RGD:13592920
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 JBrowse link 1 124,983,391 125,101,759 RGD:8554872
chromosome 15q24 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Commd4 COMM domain containing 4 JBrowse link 8 61,833,340 61,836,872 RGD:8554872
G Cspg4 chondroitin sulfate proteoglycan 4 JBrowse link 8 61,532,465 61,567,510 RGD:8554872
G Imp3 IMP U3 small nucleolar ribonucleoprotein 3 JBrowse link 8 61,607,021 61,607,909 RGD:8554872
G Man2c1 mannosidase, alpha, class 2C, member 1 JBrowse link 8 61,805,697 61,816,800 RGD:8554872
G Neil1 nei-like DNA glycosylase 1 JBrowse link 8 61,817,258 61,824,023 RGD:8554872
G Odf3l1 outer dense fiber of sperm tails 3-like 1 JBrowse link 8 61,516,249 61,542,946 RGD:8554872
G Ptpn9 protein tyrosine phosphatase, non-receptor type 9 JBrowse link 8 61,658,851 61,739,458 RGD:8554872
G Sin3a SIN3 transcription regulator family member A JBrowse link 8 61,748,590 61,803,314 RGD:8554872
RGD:7240710
G Snupn snurportin 1 JBrowse link 8 61,614,798 61,654,809 RGD:8554872
G Snx33 sorting nexin 33 JBrowse link 8 61,584,656 61,596,055 RGD:8554872
Chromosome 17 Deletion term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kansl1 KAT8 regulatory NSL complex subunit 1 JBrowse link 10 92,388,045 92,517,449 RGD:11554173
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:11554173
chromosome 17q11.2 deletion syndrome, 1.4Mb term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf135 ring finger protein 135 JBrowse link 10 67,531,989 67,551,237 RGD:8554872
RGD:11554173
chromosome 17q12 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aatf apoptosis antagonizing transcription factor JBrowse link 10 71,744,648 71,837,851 RGD:8554872
G Acaca acetyl-CoA carboxylase alpha JBrowse link 10 71,519,392 71,719,910 RGD:8554872
G Ccl3 C-C motif chemokine ligand 3 JBrowse link 10 70,869,516 70,871,066 RGD:8554872
G Ccl4 C-C motif chemokine ligand 4 JBrowse link 10 70,870,926 70,886,357 RGD:8554872
G Ddx52 DExD-box helicase 52 JBrowse link 10 71,253,667 71,276,397 RGD:8554872
G Dhrs11 dehydrogenase/reductase 11 JBrowse link 10 72,144,042 72,153,496 RGD:8554872
G Dusp14 dual specificity phosphatase 14 JBrowse link 10 71,363,688 71,383,602 RGD:8554872
G Ggnbp2 gametogenetin binding protein 2 JBrowse link 10 72,156,729 72,188,834 RGD:8554872
G Hnf1b HNF1 homeobox B JBrowse link 10 71,159,863 71,218,902 RGD:8554872
G Lhx1 LIM homeobox 1 JBrowse link 10 71,843,991 71,849,293 RGD:8554872
G LOC102552988 uncharacterized LOC102552988 JBrowse link 10 71,462,168 71,493,312 RGD:8554872
G Mrm1 mitochondrial rRNA methyltransferase 1 JBrowse link 10 72,136,241 72,143,075 RGD:8554872
G Mrpl45 mitochondrial ribosomal protein L45 JBrowse link 10 85,257,876 85,269,806 RGD:8554872
G Myo19 myosin XIX JBrowse link 10 72,198,475 72,227,892 RGD:8554872
G Pigw phosphatidylinositol glycan anchor biosynthesis, class W JBrowse link 10 72,194,774 72,198,415 RGD:8554872
G Synrg synergin, gamma JBrowse link 10 71,278,698 71,357,791 RGD:8554872
G Tada2a transcriptional adaptor 2A JBrowse link 10 71,393,701 71,441,435 RGD:8554872
G Znhit3 zinc finger, HIT-type containing 3 JBrowse link 10 72,227,710 72,235,932 RGD:8554872
chromosome 18q deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adnp2 ADNP homeobox 2 JBrowse link 18 76,637,415 76,661,186 RGD:8554872
G Atp9b ATPase phospholipid transporting 9B (putative) JBrowse link 18 77,343,551 77,535,608 RGD:8554872
G Bcl2 BCL2, apoptosis regulator JBrowse link 13 26,605,426 26,769,374 RGD:8554872
G Cbln2 cerebellin 2 precursor JBrowse link 18 83,775,568 83,783,841 RGD:8554872
G Cd226 CD226 molecule JBrowse link 18 86,299,392 86,394,772 RGD:8554872
G Cdh19 cadherin 19 JBrowse link 13 32,344,954 32,469,887 RGD:8554872
G Cdh20 cadherin 20 JBrowse link 13 24,630,298 24,914,463 RGD:8554872
G Cdh7 cadherin 7 JBrowse link 13 31,081,064 31,228,884 RGD:8554872
G Cndp1 carnosine dipeptidase 1 JBrowse link 18 81,466,717 81,512,841 RGD:8554872
G Cndp2 carnosine dipeptidase 2 JBrowse link 18 81,521,966 81,539,065 RGD:8554872
G Ctdp1 CTD phosphatase subunit 1 JBrowse link 18 76,922,913 76,985,095 RGD:8554872
G Cyb5a cytochrome b5 type A JBrowse link 18 81,694,818 81,726,821 RGD:8554872
G Dipk1c divergent protein kinase domain 1C JBrowse link 18 81,569,693 81,591,683 RGD:8554872
G Dok6 docking protein 6 JBrowse link 18 86,420,361 86,878,142 RGD:8554872
G Dsel dermatan sulfate epimerase-like JBrowse link 13 1,942,384 1,948,563 RGD:8554872
G Fbxo15 F-box protein 15 JBrowse link 18 81,785,408 81,882,796 RGD:8554872
G Galr1 galanin receptor 1 JBrowse link 18 79,243,009 79,258,570 RGD:8554872
G Hsbp1l1 heat shock factor binding protein 1-like 1 JBrowse link 18 76,748,067 76,754,642 RGD:8554872
G Kcng2 potassium voltage-gated channel modifier subfamily G member 2 JBrowse link 18 76,808,294 76,880,742 RGD:8554872
G Kdsr 3-ketodihydrosphingosine reductase JBrowse link 13 26,779,386 26,812,271 RGD:8554872
G LOC100359752 hypothetical protein LOC100359752 JBrowse link 18 81,644,346 81,683,983 RGD:8554872
G Mbp myelin basic protein JBrowse link 18 79,326,738 79,437,310 RGD:8554872
G Mc4r melanocortin 4 receptor JBrowse link 18 62,612,838 62,614,725 RGD:8554872
G Neto1 neuropilin and tolloid like 1 JBrowse link 18 83,471,342 83,585,043 RGD:8554872
G Nfatc1 nuclear factor of activated T-cells 1 JBrowse link 18 77,203,517 77,322,690 RGD:8554872
G Pard6g par-6 family cell polarity regulator gamma JBrowse link 18 76,559,877 76,627,843 RGD:8554872
G Phlpp1 PH domain and leucine rich repeat protein phosphatase 1 JBrowse link 13 26,145,989 26,394,505 RGD:8554872
G Pign phosphatidylinositol glycan anchor biosynthesis, class N JBrowse link 13 25,510,593 25,662,943 RGD:8554872
G Rbfa ribosome binding factor A JBrowse link 18 76,704,223 76,714,387 RGD:8554872
G Relch RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing JBrowse link 13 25,656,983 25,752,792 RGD:8554872
G Rnf152 ring finger protein 152 JBrowse link 13 25,183,295 25,262,785 RGD:8554872
G Rttn rotatin JBrowse link 18 86,071,884 86,247,486 RGD:8554872
G Sall3 spalt-like transcription factor 3 JBrowse link 18 77,572,200 77,591,710 RGD:8554872
G Serpinb10 serpin family B member 10 JBrowse link 13 27,466,036 27,483,789 RGD:8554872
G Serpinb11 serpin family B member 11 JBrowse link 13 27,217,385 27,257,181 RGD:8554872
G Serpinb12 serpin family B member 12 JBrowse link 13 26,970,824 26,999,709 RGD:8554872
G Serpinb13 serpin family B member 13 JBrowse link 13 27,032,048 27,062,620 RGD:8554872
G Serpinb2 serpin family B member 2 JBrowse link 13 27,449,907 27,463,015 RGD:8554872
G Serpinb3 serpin family B member 3 JBrowse link 13 27,186,701 27,193,211 RGD:8554872
G Serpinb3a serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 3A JBrowse link 13 27,153,500 27,159,319 RGD:8554872
G Serpinb5 serpin family B member 5 JBrowse link 13 26,903,052 26,923,250 RGD:8554872
G Serpinb7 serpin family B member 7 JBrowse link 13 27,282,456 27,354,775 RGD:8554872
G Serpinb8 serpin family B member 8 JBrowse link 13 27,876,662 27,914,038 RGD:8554872
G Slc66a2 solute carrier family 66 member 2 JBrowse link 18 76,768,466 76,805,773 RGD:8554872
G Socs6 suppressor of cytokine signaling 6 JBrowse link 18 85,962,729 85,981,125 RGD:8554872
G Timm21 translocase of inner mitochondrial membrane 21 JBrowse link 18 81,803,165 81,807,627 RGD:8554872
G Tmx3 thioredoxin-related transmembrane protein 3 JBrowse link 18 87,580,227 87,613,481 RGD:8554872
G Tnfrsf11a TNF receptor superfamily member 11A JBrowse link 13 25,778,306 25,835,802 RGD:8554872
G Tshz1 teashirt zinc finger homeobox 1 JBrowse link 18 80,860,995 80,907,744 RGD:8554872
G Txnl4a thioredoxin-like 4A JBrowse link 18 76,725,221 76,740,673 RGD:8554872
G Vps4b vacuolar protein sorting 4 homolog B JBrowse link 13 26,825,261 26,850,460 RGD:8554872
G Zadh2 zinc binding alcohol dehydrogenase, domain containing 2 JBrowse link 18 80,939,875 80,949,226 RGD:8554872
G Zcchc2 zinc finger CCHC-type containing 2 JBrowse link 13 25,961,762 26,052,472 RGD:8554872
G Zfp236 zinc finger protein 236 JBrowse link 18 79,447,384 79,543,271 RGD:8554872
G Zfp407 zinc finger protein 407 JBrowse link 18 81,057,507 81,453,682 RGD:8554872
G Zfp516 zinc finger protein 516 JBrowse link 18 79,768,387 79,857,909 RGD:8554872
chromosome 1p32-p31 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nfia nuclear factor I/A JBrowse link 5 116,421,895 116,750,381 RGD:8554872
RGD:7240710
chromosome 1p36 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Casz1 castor zinc finger 1 JBrowse link 5 165,625,119 165,777,053 RGD:13592920
G Kcnab2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 JBrowse link 5 169,570,327 169,658,875 RGD:13592920
chromosome 1q21.1 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acp6 acid phosphatase 6, lysophosphatidic JBrowse link 2 199,284,177 199,305,793 RGD:8554872
G Bcl9 BCL9, transcription coactivator JBrowse link 2 199,334,644 199,420,083 RGD:8554872
G Chd1l chromodomain helicase DNA binding protein 1-like JBrowse link 2 199,714,044 199,792,270 RGD:8554872
G Fmo5 flavin containing dimethylaniline monoxygenase 5 JBrowse link 2 199,796,870 199,823,927 RGD:8554872
G Gja5 gap junction protein, alpha 5 JBrowse link 2 199,162,745 199,184,942 RGD:8554872
RGD:11554173
G Gja8 gap junction protein, alpha 8 JBrowse link 2 199,050,854 199,052,470 RGD:8554872
RGD:11554173
G Gpr89b G protein-coupled receptor 89B JBrowse link 2 198,999,945 199,038,702 RGD:8554872
G Prkab2 protein kinase AMP-activated non-catalytic subunit beta 2 JBrowse link 2 199,831,990 199,847,623 RGD:8554872
chromosome 1q41-q42 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp53bp2 tumor protein p53 binding protein, 2 JBrowse link 13 100,817,206 100,873,837 RGD:13592920
chromosome 22q11.2 deletion syndrome, distal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc116 coiled-coil domain containing 116 JBrowse link 11 88,092,794 88,100,220 RGD:8554872
G Mapk1 mitogen activated protein kinase 1 JBrowse link 11 88,203,863 88,273,301 RGD:8554872
G Mir130b microRNA 130b JBrowse link 11 88,129,773 88,129,854 RGD:8554872
G Ppil2 peptidylprolyl isomerase like 2 JBrowse link 11 88,147,342 88,169,968 RGD:8554872
G Ppm1f protein phosphatase, Mg2+/Mn2+ dependent, 1F JBrowse link 11 88,313,709 88,343,726 RGD:8554872
G Prame preferentially expressed antigen in melanoma JBrowse link X 106,082,984 106,091,256 RGD:8554872
G Rimbp3 RIMS binding protein 3 JBrowse link 11 88,033,213 88,039,002 RGD:8554872
G Sdf2l1 stromal cell-derived factor 2-like 1 JBrowse link 11 88,122,271 88,124,513 RGD:8554872
G Tmem191c transmembrane protein 191C JBrowse link 11 87,975,508 87,982,861 RGD:8554872
G Top3b DNA topoisomerase III beta JBrowse link 11 88,346,305 88,374,896 RGD:8554872
G Ube2l3 ubiquitin-conjugating enzyme E2L 3 JBrowse link 11 88,047,186 88,088,477 RGD:8554872
G Vpreb1 V-set pre-B cell surrogate light chain 1 JBrowse link 11 88,376,256 88,377,133 RGD:8554872
G Ydjc YdjC chitooligosaccharide deacetylase homolog JBrowse link 11 88,089,142 88,094,254 RGD:8554872
G Ypel1 yippee-like 1 JBrowse link 11 88,171,401 88,186,000 RGD:8554872
G Zfp280b zinc finger protein 280B JBrowse link 20 13,566,381 13,581,215 RGD:8554872
CHROMOSOME 2p16.3 DELETION SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nrxn1 neurexin 1 JBrowse link 6 13,886,757 15,191,660 RGD:7240710
RGD:11554173
chromosome 2q32-q33 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Satb2 SATB homeobox 2 JBrowse link 9 63,456,877 63,642,193 RGD:7240710
RGD:8554872
Chromosome 2q37 Deletion Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Farp2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 JBrowse link 9 100,660,366 100,767,940 RGD:11554173
G Hdac4 histone deacetylase 4 JBrowse link 9 99,052,945 99,299,715 RGD:8554872
RGD:7240710
RGD:11554173
G Hdlbp high density lipoprotein binding protein JBrowse link 9 100,554,574 100,624,707 RGD:11554173
G Pask PAS domain containing serine/threonine kinase JBrowse link 9 100,450,595 100,479,719 RGD:11554173
Chromosome 3, Monosomy 3p25 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cav3 caveolin 3 JBrowse link 4 144,382,945 144,398,919 RGD:11554173
G Oxtr oxytocin receptor JBrowse link 4 144,399,326 144,417,598 RGD:11554173
G Srgap3 SLIT-ROBO Rho GTPase activating protein 3 JBrowse link 4 144,638,782 144,869,961 RGD:11554173
chromosome 5q deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Klf1 Kruppel like factor 1 JBrowse link 19 26,016,289 26,019,557 RGD:10769343
G Rps14 ribosomal protein S14 JBrowse link 18 56,042,532 56,047,316 RGD:7240710
Chromosome 8, Trisomy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nqo1 NAD(P)H quinone dehydrogenase 1 JBrowse link 19 38,422,210 38,437,103 RGD:10769356
chromosome 9p deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Frem1 Fras1 related extracellular matrix 1 JBrowse link 5 101,018,009 101,166,794 RGD:13592920
Chromosome Deletion term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdkn2a cyclin-dependent kinase inhibitor 2A JBrowse link 5 107,823,323 107,832,405 RGD:11554173
G Rad51d RAD51 paralog D JBrowse link 10 70,222,703 70,241,352 RGD:11554173
G Shank3 SH3 and multiple ankyrin repeat domains 3 JBrowse link 7 130,474,278 130,534,679 RGD:1599213
Cri-du-Chat syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:11554173
Deafness, with Smith-Magenis Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo15a myosin XVA JBrowse link 10 46,840,098 46,897,362 RGD:8554872
DiGeorge syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh1a2 aldehyde dehydrogenase 1 family, member A2 JBrowse link 8 77,640,234 77,719,488 RGD:734550
RGD:13592920
G Arvcf ARVCF, delta catenin family member JBrowse link 11 86,736,125 86,793,795 RGD:1578806
RGD:8554872
G Cdc45 cell division cycle 45 JBrowse link 11 86,328,785 86,354,099 RGD:8554872
G Chrd chordin JBrowse link 11 83,858,503 83,867,543 RGD:13592920
G Cldn5 claudin 5 JBrowse link 11 86,356,292 86,357,718 RGD:8554872
G Comt catechol-O-methyltransferase JBrowse link 11 86,715,981 86,735,630 RGD:11554173
RGD:8554872
G Crkl CRK like proto-oncogene, adaptor protein JBrowse link 11 87,338,606 87,356,644 RGD:11554173
G Dgcr2 DiGeorge syndrome critical region gene 2 JBrowse link 11 87,242,441 87,290,806 RGD:11554173
RGD:8554872
G Dgcr6 DiGeorge syndrome critical region gene 6 JBrowse link 11 87,076,205 87,081,306 RGD:11554173
G Dgcr8 DGCR8 microprocessor complex subunit JBrowse link 11 86,852,682 86,885,233 RGD:11554173
G Dicer1 dicer 1 ribonuclease III JBrowse link 6 128,388,084 128,453,234 RGD:13592920
G Dock1 dedicator of cyto-kinesis 1 JBrowse link 1 206,900,617 207,414,852 RGD:13592920
G Dvl1 dishevelled segment polarity protein 1 JBrowse link 5 173,295,948 173,308,014 RGD:1580898
G Ess2 ess-2 splicing factor homolog JBrowse link 11 87,224,371 87,234,329 RGD:11554173
RGD:8554872
G Fgf8 fibroblast growth factor 8 JBrowse link 1 265,492,949 265,498,965 RGD:11554173
G Foxn1 forkhead box N1 JBrowse link 10 65,621,142 65,634,666 RGD:13592920
G Gnb1l G protein subunit beta 1 like JBrowse link 11 86,575,229 86,655,614 RGD:8554872
G Gp1bb glycoprotein Ib platelet subunit beta JBrowse link 11 86,520,992 86,522,169 RGD:8554872
G Gsc2 goosecoid homeobox 2 JBrowse link 11 87,220,618 87,222,606 RGD:8554872
G Hira histone cell cycle regulator JBrowse link 11 86,168,196 86,276,430 RGD:8554872
G Hoxa3 homeobox A3 JBrowse link 4 82,137,802 82,181,836 RGD:13592920
G Kat6a lysine acetyltransferase 6A JBrowse link 16 73,942,669 74,020,750 RGD:9590333
RGD:13592920
G LOC102548901 protein Bop-like JBrowse link 12 6,230,524 6,231,398 RGD:8554872
G LOC498122 similar to CG15908-PA JBrowse link 11 86,299,210 86,303,453 RGD:8554872
G Mrpl40 mitochondrial ribosomal protein L40 JBrowse link 11 86,276,616 86,282,452 RGD:8554872
G Ndst1 N-deacetylase and N-sulfotransferase 1 JBrowse link 18 55,951,497 56,014,107 RGD:13592920
G Plxnd1 plexin D1 JBrowse link 4 147,854,309 147,894,170 RGD:13592920
G Prodh1 proline dehydrogenase 1 JBrowse link 11 87,058,478 87,075,785 RGD:8554872
G Septin5 septin 5 JBrowse link 11 86,516,377 86,522,169 RGD:8554872
G Slc25a1 solute carrier family 25 member 1 JBrowse link 11 87,204,248 87,207,265 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 Tgfbr2 transforming growth factor, beta receptor 2 JBrowse link 8 124,310,288 124,399,345 RGD:13592920
G Tssk2 testis-specific serine kinase 2 JBrowse link 11 87,235,058 87,236,413 RGD:8554872
G Txnrd2 thioredoxin reductase 2 JBrowse link 11 86,667,994 86,716,063 RGD:8554872
G Ufd1 ubiquitin recognition factor in ER associated degradation 1 JBrowse link 11 86,304,836 86,328,478 RGD:1580803
RGD:8554872
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:13592920
G Zfp366 zinc finger protein 366 JBrowse link 2 29,410,169 29,498,661 RGD:13592920
Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca5 ATP binding cassette subfamily A member 5 JBrowse link 10 98,573,226 98,645,028 RGD:8554872
RGD:7240710
hypoparathyroidism-deafness-renal disease syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acbd7 acyl-CoA binding domain containing 7 JBrowse link 17 78,904,549 78,913,372 RGD:8554872
G Akr1c1 aldo-keto reductase family 1, member C1 JBrowse link 17 69,441,253 69,460,334 RGD:8554872
G Akr1c2 aldo-keto reductase family 1, member C2 JBrowse link 17 69,388,337 69,435,160 RGD:8554872
G Akr1c3 aldo-keto reductase family 1, member C3 JBrowse link 17 69,761,126 69,778,021 RGD:8554872
G Akr1e2 aldo-keto reductase family 1, member E2 JBrowse link 17 69,365,437 69,379,944 RGD:8554872
G Ankrd16 ankyrin repeat domain 16 JBrowse link 17 70,384,883 70,398,089 RGD:8554872
G Arl5b ADP-ribosylation factor like GTPase 5B JBrowse link 17 82,065,893 82,092,693 RGD:8554872
G Asb13 ankyrin repeat and SOCS box-containing 13 JBrowse link 17 70,215,401 70,234,103 RGD:8554872
G Atp5f1c ATP synthase F1 subunit gamma JBrowse link 17 72,209,321 72,231,562 RGD:8554872
G Bend7 BEN domain containing 7 JBrowse link 17 77,448,430 77,527,888 RGD:8554872
G C1ql3 complement C1q like 3 JBrowse link 17 80,314,186 80,320,681 RGD:8554872
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 JBrowse link 17 81,673,862 82,019,219 RGD:8554872
G Calml3 calmodulin-like 3 JBrowse link 17 70,070,458 70,073,697 RGD:8554872
G Calml5 calmodulin-like 5 JBrowse link 17 70,044,956 70,045,886 RGD:8554872
G Camk1d calcium/calmodulin-dependent protein kinase ID JBrowse link 17 76,532,611 76,938,956 RGD:8554872
G Ccdc3 coiled-coil domain containing 3 JBrowse link 17 76,991,722 77,093,515 RGD:8554872
G Cdc123 cell division cycle 123 JBrowse link 17 76,410,629 76,454,275 RGD:8554872
G Cdnf cerebral dopamine neurotrophic factor JBrowse link 17 78,721,230 78,735,324 RGD:8554872
G Celf2 CUGBP, Elav-like family member 2 JBrowse link 17 75,259,269 75,660,154 RGD:8554872
G Cubn cubilin JBrowse link 17 80,584,921 80,807,181 RGD:8554872
G Dclre1c DNA cross-link repair 1C JBrowse link 17 78,782,512 78,812,140 RGD:8554872
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 JBrowse link 17 76,306,585 76,358,058 RGD:8554872
G Echdc3 enoyl CoA hydratase domain containing 3 JBrowse link 17 76,002,304 76,022,813 RGD:8554872
G Fam107b family with sequence similarity 107, member B JBrowse link 17 78,489,667 78,689,933 RGD:8554872
G Fam171a1 family with sequence similarity 171, member A1 JBrowse link 17 79,030,150 79,149,480 RGD:8554872
G Fbh1 F-box DNA helicase 1 JBrowse link 17 70,399,093 70,437,151 RGD:8554872
G Frmd4a FERM domain containing 4A JBrowse link 17 77,642,302 77,918,210 RGD:8554872
G Gata3 GATA binding protein 3 JBrowse link 17 72,419,752 72,452,043 RGD:7240710
RGD:8554872
RGD:11554173
G Gdi2 GDP dissociation inhibitor 2 JBrowse link 17 70,299,177 70,325,864 RGD:8554872
G Hacd1 3-hydroxyacyl-CoA dehydratase 1 JBrowse link 17 81,173,238 81,196,012 RGD:8554872
G Hspa14 heat shock protein family A (Hsp70) member 14 JBrowse link 17 78,735,630 78,756,412 RGD:8554872
G Il15ra interleukin 15 receptor subunit alpha JBrowse link 17 70,451,861 70,481,838 RGD:8554872
G Il2ra interleukin 2 receptor subunit alpha JBrowse link 17 70,500,672 70,547,929 RGD:8554872
G Itga8 integrin subunit alpha 8 JBrowse link 17 79,321,893 79,676,927 RGD:8554872
G Itih2 inter-alpha-trypsin inhibitor heavy chain 2 JBrowse link 17 72,160,734 72,197,248 RGD:8554872
G Kin Kin17 DNA and RNA binding protein JBrowse link 17 72,198,882 72,216,780 RGD:8554872
G Mcm10 minichromosome maintenance 10 replication initiation factor JBrowse link 17 77,224,218 77,245,486 RGD:8554872
G Meig1 meiosis/spermiogenesis associated 1 JBrowse link 17 78,813,656 78,829,411 RGD:8554872
G Mindy3 MINDY lysine 48 deubiquitinase 3 JBrowse link 17 79,720,534 79,798,470 RGD:8554872
G Net1 neuroepithelial cell transforming 1 JBrowse link 17 69,991,786 70,020,977 RGD:8554872
G Nmt2 N-myristoyltransferase 2 JBrowse link 17 78,919,235 78,966,013 RGD:8554872
G Nsun6 NOP2/Sun RNA methyltransferase 6 JBrowse link 17 82,020,316 82,060,533 RGD:8554872
G Nudt5 nudix hydrolase 5 JBrowse link 17 76,387,027 76,410,309 RGD:8554872
G Olah oleoyl-ACP hydrolase JBrowse link 17 78,878,673 78,903,919 RGD:8554872
G Optn optineurin JBrowse link 17 77,167,700 77,218,374 RGD:8554872
G Pfkfb3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 JBrowse link 17 70,632,778 70,713,736 RGD:8554872
G Phyh phytanoyl-CoA 2-hydroxylase JBrowse link 17 77,287,580 77,304,482 RGD:8554872
G Prkcq protein kinase C, theta JBrowse link 17 70,971,915 71,105,286 RGD:8554872
G Proser2 proline and serine rich 2 JBrowse link 17 76,079,641 76,140,428 RGD:8554872
G Prpf18 pre-mRNA processing factor 18 JBrowse link 17 77,601,914 77,632,507 RGD:8554872
G Pter phosphotriesterase related JBrowse link 17 80,250,444 80,311,987 RGD:8554872
G Rbm17 RNA binding motif protein 17 JBrowse link 17 70,586,345 70,603,289 RGD:8554872
G Rpp38 ribonuclease P/MRP subunit p38 JBrowse link 17 78,915,450 78,919,144 RGD:8554872
G Rsu1 Ras suppressor protein 1 JBrowse link 17 80,388,477 80,577,338 RGD:8554872
G Sec61a2 SEC61 translocon subunit alpha 2 JBrowse link 17 76,358,947 76,385,860 RGD:8554872
G Sephs1 selenophosphate synthetase 1 JBrowse link 17 77,312,562 77,340,934 RGD:8554872
G Sfmbt2 Scm-like with four mbt domains 2 JBrowse link 17 71,719,012 71,904,303 RGD:8554872
G Slc39a12 solute carrier family 39 member 12 JBrowse link 17 81,455,731 81,541,742 RGD:8554872
G St8sia6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 JBrowse link 17 80,960,785 81,002,830 RGD:8554872
G Stam signal transducing adaptor molecule JBrowse link 17 81,209,795 81,256,111 RGD:8554872
G Suv39h2 suppressor of variegation 3-9 homolog 2 JBrowse link 17 78,762,897 78,782,016 RGD:8554872
G Taf3 TATA-box binding protein associated factor 3 JBrowse link 17 72,240,785 72,393,448 RGD:8554872
G Tasor2 transcription activation suppressor family member 2 JBrowse link 17 70,245,672 70,299,056 RGD:8554872
G Trdmt1 tRNA aspartic acid methyltransferase 1 JBrowse link 17 80,824,652 80,859,585 RGD:8554872
G Tubal3 tubulin, alpha-like 3 JBrowse link 17 69,974,272 69,982,957 RGD:8554872
G Ucma upper zone of growth plate and cartilage matrix associated JBrowse link 17 77,252,099 77,262,301 RGD:8554872
G Ucn3 urocortin 3 JBrowse link 17 69,959,879 69,966,532 RGD:8554872
G Upf2 UPF2, regulator of nonsense mediated mRNA decay JBrowse link 17 76,176,379 76,287,246 RGD:8554872
G Usp6nl USP6 N-terminal like JBrowse link 17 75,759,428 75,887,108 RGD:8554872
G Vim vimentin JBrowse link 17 80,882,715 80,891,200 RGD:8554872
hypotonia-cystinuria syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Camkmt calmodulin-lysine N-methyltransferase JBrowse link 6 8,346,645 8,729,773 RGD:11554173
G Ppm1b protein phosphatase, Mg2+/Mn2+ dependent, 1B JBrowse link 6 8,219,385 8,280,127 RGD:11554173
G Prepl prolyl endopeptidase-like JBrowse link 6 8,316,861 8,346,293 RGD:11554173
G Slc3a1 solute carrier family 3 member 1 JBrowse link 6 8,284,937 8,318,649 RGD:11554173
Jacobsen Distal 11q Deletion Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fli1 Fli-1 proto-oncogene, ETS transcription factor JBrowse link 8 33,541,932 33,661,111 RGD:8554872
Kleefstra syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ehmt1 euchromatic histone lysine methyltransferase 1 JBrowse link 3 1,966,974 2,123,858 RGD:8554872
RGD:13592920
RGD:9589144
RGD:9589139
RGD:9589137
Kleefstra Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ehmt1 euchromatic histone lysine methyltransferase 1 JBrowse link 3 1,966,974 2,123,858 RGD:7240710
RGD:8554872
G Kmt2c lysine methyltransferase 2C JBrowse link 4
4		 82,506
6,083,650		 109,986
6,294,413		 RGD:8554872
G Nr1i3 nuclear receptor subfamily 1, group I, member 3 JBrowse link 13 89,585,072 89,591,278 RGD:8554872
G Paep progestagen associated endometrial protein JBrowse link 3 2,935,396 2,938,883 RGD:8554872
Kleefstra Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kmt2c lysine methyltransferase 2C JBrowse link 4
4		 82,506
6,083,650		 109,986
6,294,413		 RGD:8554872
RGD:7240710
Koolen de Vries syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kansl1 KAT8 regulatory NSL complex subunit 1 JBrowse link 10 92,388,045 92,517,449 RGD:8554872
RGD:7240710
Miller-Dieker lissencephaly syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dph1 diphthamide biosynthesis 1 JBrowse link 10 62,019,379 62,032,384 RGD:13592920
G Hic1 HIC ZBTB transcriptional repressor 1 JBrowse link 10 62,007,150 62,010,774 RGD:13592920
G Mnt MAX network transcriptional repressor JBrowse link 10 61,683,776 61,700,504 RGD:13592920
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 JBrowse link 10 61,456,144 61,577,412 RGD:13592920
G Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon JBrowse link 10 63,884,338 63,921,709 RGD:13592920
Phelan-McDermid syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ins2 insulin 2 JBrowse link 1 215,856,967 215,858,034 RGD:11554173
G Shank3 SH3 and multiple ankyrin repeat domains 3 JBrowse link 7 130,474,278 130,534,679 RGD:7240710
RGD:8554872
RGD:11554173
Potocki-Lupski syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akap10 A-kinase anchoring protein 10 JBrowse link 10 48,150,902 48,210,074 RGD:8554872
G Aldh3a1 aldehyde dehydrogenase 3 family, member A1 JBrowse link 10 47,490,168 47,499,855 RGD:8554872
G Aldh3a2 aldehyde dehydrogenase 3 family, member A2 JBrowse link 10 47,525,486 47,546,535 RGD:8554872
G Alkbh5 alkB homolog 5, RNA demethylase JBrowse link 10 46,906,314 46,927,759 RGD:8554872
G Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 JBrowse link 10 46,768,539 46,783,889 RGD:8554872
G B9d1 B9 domain containing 1 JBrowse link 10 47,784,294 47,794,399 RGD:8554872
G Cops3 COP9 signalosome subunit 3 JBrowse link 10 46,182,680 46,206,083 RGD:8554872
G Drc3 dynein regulatory complex subunit 3 JBrowse link 10 46,712,021 46,762,276 RGD:8554872
G Drg2 developmentally regulated GTP binding protein 2 JBrowse link 10 46,818,412 46,831,308 RGD:8554872
G Epn2 epsin 2 JBrowse link 10 47,795,496 47,857,373 RGD:8554872
G Fam83g family with sequence similarity 83, member G JBrowse link 10 47,960,735 47,984,083 RGD:8554872
G Fbxw10 F-box and WD repeat domain containing 10 JBrowse link 10 49,259,050 49,296,714 RGD:8554872
G Flcn folliculin JBrowse link 10 46,153,185 46,172,331 RGD:11554173
RGD:8554872
G Flii FLII, actin remodeling protein JBrowse link 10 46,955,460 46,969,468 RGD:8554872
G Gid4 GID complex subunit 4 JBrowse link 10 46,784,124 46,810,517 RGD:8554872
G Grap GRB2-related adaptor protein JBrowse link 10 47,930,633 47,949,774 RGD:8554872
G Llgl1 LLGL scribble cell polarity complex component 1 JBrowse link 10 46,940,873 46,955,524 RGD:8554872
G Mapk7 mitogen-activated protein kinase 7 JBrowse link 10 47,768,592 47,775,130 RGD:8554872
G Med9 mediator complex subunit 9 JBrowse link 10 46,314,639 46,329,374 RGD:8554872
G Mfap4 microfibril associated protein 4 JBrowse link 10 47,765,463 47,768,484 RGD:8554872
G Mief2 mitochondrial elongation factor 2 JBrowse link 10 46,969,531 46,975,572 RGD:8554872
G Mprip myosin phosphatase Rho interacting protein JBrowse link 10 46,018,397 46,133,580 RGD:8554872
G Myo15a myosin XVA JBrowse link 10 46,840,098 46,897,362 RGD:8554872
G Nt5m 5',3'-nucleotidase, mitochondrial JBrowse link 10 46,216,494 46,244,478 RGD:8554872
G Pemt phosphatidylethanolamine N-methyltransferase JBrowse link 10 46,339,821 46,404,640 RGD:8554872
G Pld6 phospholipase D family, member 6 JBrowse link 10 46,142,313 46,145,774 RGD:8554872
G Prpsap2 phosphoribosyl pyrophosphate synthetase-associated protein 2 JBrowse link 10 48,008,799 48,044,435 RGD:8554872
G Rai1 retinoic acid induced 1 JBrowse link 10 46,511,271 46,571,591 RGD:11554173
RGD:8554872
G Rasd1 ras related dexamethasone induced 1 JBrowse link 10 46,330,361 46,339,326 RGD:8554872
G Rnf112 ring finger protein 112 JBrowse link 10 47,719,034 47,726,050 RGD:8554872
G Shmt1 serine hydroxymethyltransferase 1 JBrowse link 10 47,030,813 47,059,216 RGD:8554872
G Slc47a1 solute carrier family 47 member 1 JBrowse link 10 47,631,425 47,685,379 RGD:8554872
G Slc47a2 solute carrier family 47 member 2 JBrowse link 10 47,587,909 47,631,373 RGD:8554872
G Slc5a10 solute carrier family 5 member 10 JBrowse link 10 47,949,775 47,997,802 RGD:8554872
G Smcr8 SMCR8-C9orf72 complex subunit JBrowse link 10 47,019,326 47,026,465 RGD:8554872
G Specc1 sperm antigen with calponin homology and coiled-coil domains 1 JBrowse link 10 48,240,291 48,542,171 RGD:8554872
G Srebf1 sterol regulatory element binding transcription factor 1 JBrowse link 10 46,570,996 46,593,021 RGD:8554872
G Tnfrsf13b TNF receptor superfamily member 13B JBrowse link 10 47,399,834 47,422,907 RGD:8554872
G Tom1l2 target of myb1 like 2 membrane trafficking protein JBrowse link 10 46,599,392 46,720,921 RGD:8554872
G Top3a DNA topoisomerase III alpha JBrowse link 10 46,980,646 47,018,728 RGD:8554872
G Tvp23b trans-golgi network vesicle protein 23 homolog B JBrowse link 10 49,299,125 49,312,814 RGD:8554872
G Ulk2 unc-51 like autophagy activating kinase 2 JBrowse link 10 48,050,079 48,129,377 RGD:8554872
Sensorineural Deafness and Male Infertility term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Catsper2 cation channel, sperm associated 2 JBrowse link 3 113,357,361 113,379,498 RGD:8554872
RGD:11554173
G Ckmt1 creatine kinase, mitochondrial 1 JBrowse link 3 113,318,559 113,324,459 RGD:8554872
G Strc stereocilin JBrowse link 3 113,324,403 113,343,513 RGD:11554173
RGD:8554872
Smith-Magenis syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cask calcium/calmodulin dependent serine protein kinase JBrowse link X 9,815,652 10,156,155 RGD:8554872
G Cc2d1a coiled-coil and C2 domain containing 1A JBrowse link 19 25,246,912 25,261,965 RGD:8554872
G Gldc glycine decarboxylase JBrowse link 1 248,295,140 248,377,122 RGD:8554872
G Jakmip1 janus kinase and microtubule interacting protein 1 JBrowse link 14 78,403,448 78,523,108 RGD:8554872
G Kdm5c lysine demethylase 5C JBrowse link X 22,302,664 22,349,298 RGD:8554872
G Kmt2d lysine methyltransferase 2D JBrowse link 7 140,507,137 140,542,479 RGD:8554872
G Map2k2 mitogen activated protein kinase kinase 2 JBrowse link 7 11,458,971 11,478,520 RGD:8554872
G Mecp2 methyl CpG binding protein 2 JBrowse link X 156,650,389 156,713,813 RGD:8554872
G Rai1 retinoic acid induced 1 JBrowse link 10 46,511,271 46,571,591 RGD:7240710
RGD:8554872
RGD:11554173
G Sms spermine synthase JBrowse link X 40,363,646 40,415,110 RGD:8554872
G Srebf1 sterol regulatory element binding transcription factor 1 JBrowse link 10 46,570,996 46,593,021 RGD:8554872
G Tom1l2 target of myb1 like 2 membrane trafficking protein JBrowse link 10 46,599,392 46,720,921 RGD:8554872
G Zeb2 zinc finger E-box binding homeobox 2 JBrowse link 3 29,857,289 29,985,932 RGD:8554872
Takao VCF Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbx1 T-box transcription factor 1 JBrowse link 11 86,552,022 86,561,647 RGD:8554872
thrombocytopenia-absent radius syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankrd34a ankyrin repeat domain 34A JBrowse link 2 198,720,277 198,725,155 RGD:8554872
G Ankrd35 ankyrin repeat domain 35 JBrowse link 2 198,797,136 198,817,144 RGD:8554872
G Hjv hemojuvelin BMP co-receptor JBrowse link 2 198,655,437 198,659,318 RGD:8554872
G Itga10 integrin subunit alpha 10 JBrowse link 2 198,772,937 198,792,253 RGD:8554872
G Lix1l limb and CNS expressed 1 like JBrowse link 2 198,726,110 198,751,987 RGD:8554872
G Nudt17 nudix hydrolase 17 JBrowse link 2 198,831,546 198,836,191 RGD:8554872
G Pex11b peroxisomal biogenesis factor 11 beta JBrowse link 2 198,762,138 198,771,040 RGD:8554872
G Pias3 protein inhibitor of activated STAT, 3 JBrowse link 2 198,821,377 198,831,533 RGD:8554872
G Polr3c RNA polymerase III subunit C JBrowse link 2 198,836,282 198,852,368 RGD:8554872
G Polr3gl RNA polymerase III subunit G like JBrowse link 2 198,698,044 198,719,609 RGD:8554872
G Rbm8a RNA binding motif protein 8A JBrowse link 2 198,755,261 198,758,028 RGD:7240710
RGD:8554872
RGD:11554173
G Txnip thioredoxin interacting protein JBrowse link 2 198,683,168 198,686,971 RGD:8554872
Trisomy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdkn2a cyclin-dependent kinase inhibitor 2A JBrowse link 5 107,823,323 107,832,405 RGD:11554173
velocardiofacial syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrd chordin JBrowse link 11 83,858,503 83,867,543 RGD:13592920
G Crkl CRK like proto-oncogene, adaptor protein JBrowse link 11 87,338,606 87,356,644 RGD:13592920
G Dgcr2 DiGeorge syndrome critical region gene 2 JBrowse link 11 87,242,441 87,290,806 RGD:13592920
G Dgcr6 DiGeorge syndrome critical region gene 6 JBrowse link 11 87,076,205 87,081,306 RGD:13592920
G Dgcr8 DGCR8 microprocessor complex subunit JBrowse link 11 86,852,682 86,885,233 RGD:13592920
G Ednra endothelin receptor type A JBrowse link 19 33,928,356 33,991,703 RGD:13592920
G Ess2 ess-2 splicing factor homolog JBrowse link 11 87,224,371 87,234,329 RGD:13592920
G Mapk1 mitogen activated protein kinase 1 JBrowse link 11 88,203,863 88,273,301 RGD:13592920
G Prickle1 prickle planar cell polarity protein 1 JBrowse link 7 134,702,964 134,799,437 RGD:13592920
G Tbx1 T-box transcription factor 1 JBrowse link 11 86,552,022 86,561,647 RGD:8554872
RGD:7240710
G Trappc10 trafficking protein particle complex 10 JBrowse link 20 11,168,298 11,228,634 RGD:13592920
WAGR syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elp4 elongator acetyltransferase complex subunit 4 JBrowse link 3 95,733,810 95,954,987 RGD:8554872
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8554872
RGD:11554173
G Wt1 WT1 transcription factor JBrowse link 3 95,133,221 95,180,574 RGD:1331525
RGD:8554872
RGD:11554173
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
Wolf-Hirschhorn syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cplx1 complexin 1 JBrowse link 14 2,194,895 2,226,610 RGD:11554173
G Ctbp1 C-terminal binding protein 1 JBrowse link 14 82,762,109 82,789,350 RGD:11554173
G Fgfrl1 fibroblast growth factor receptor-like 1 JBrowse link 14 2,020,110 2,032,169 RGD:11554173
G Letm1 leucine zipper and EF-hand containing transmembrane protein 1 JBrowse link 14 82,227,790 82,267,298 RGD:11554173
G Msx1 msh homeobox 1 JBrowse link 14 77,712,262 77,716,061 RGD:11554173
G Nsd2 nuclear receptor binding SET domain protein 2 JBrowse link 14 82,119,210 82,196,501 RGD:11554173
RGD:8554872
RGD:7240710
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    Pathological Conditions, Signs and Symptoms 8087
      Pathologic Processes 5160
        Chromosome Aberrations 703
          Aneuploidy 604
            49,XXXXX Syndrome 0
            Chromosome 15q, Tetrasomy 0
            Chromosome 18, Tetrasomy 18p 0
            Chromosome 21, Tetrasomy 21q 0
            Chromosome 9, Duplication 9q21 0
            Chromosome 9, Tetrasomy 9p 0
            Monosomy + 559
            Schmid-Fraccaro Syndrome 0
            Tetrasomy 0
            Trisomy + 44
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.