ONTOLOGY REPORT - ANNOTATIONS


Term:syndrome
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Accession:DOID:225 term browser browse the term
Definition:A disease comprised of a group of signs and symptoms that occur together and characterize a particular abnormality.
For additional species annotation, visit the Alliance of Genome Resources.


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3MC syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Colec11 collectin sub-family member 11 JBrowse link 6 47,857,767 47,889,961 RGD:11554173
G Masp1 mannan-binding lectin serine peptidase 1 JBrowse link 11 80,736,424 80,806,278 RGD:8554872
RGD:11554173
RGD:7240710
3MC syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clk1 CDC-like kinase 1 JBrowse link 9 65,296,777 65,308,017 RGD:7240710
G Colec11 collectin sub-family member 11 JBrowse link 6 47,857,767 47,889,961 RGD:8554872
RGD:11554173
RGD:7240710
G Masp1 mannan-binding lectin serine peptidase 1 JBrowse link 11 80,736,424 80,806,278 RGD:11554173
3MC syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Colec10 collectin subfamily member 10 JBrowse link 7 93,975,451 94,035,999 RGD:8554872
RGD:11554173
G Colec11 collectin sub-family member 11 JBrowse link 6 47,857,767 47,889,961 RGD:11554173
G Masp1 mannan-binding lectin serine peptidase 1 JBrowse link 11 80,736,424 80,806,278 RGD:11554173
ablepharon macrostomia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Twist2 twist family bHLH transcription factor 2 JBrowse link 9 98,924,134 98,968,510 RGD:8554872
RGD:7240710
acrocallosal syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep41 centrosomal protein 41 JBrowse link 4 57,966,783 58,006,931 RGD:8554872
G Foxg1 forkhead box G1 JBrowse link 6 69,971,227 69,974,037 RGD:11554173
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:11068757
RGD:11554173
RGD:8554872
RGD:7240710
RGD:11553832
Adams-Oliver syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgap31 Rho GTPase activating protein 31 JBrowse link 11 64,600,968 64,714,114 RGD:8554872
RGD:7240710
G Dll4 delta like canonical Notch ligand 4 JBrowse link 3 111,135,011 111,146,746 RGD:8554872
RGD:7240710
G Dock6 dedicator of cytokinesis 6 JBrowse link 8 22,822,412 22,874,670 RGD:8554872
RGD:11554173
G Eogt EGF domain specific O-linked N-acetylglucosamine transferase JBrowse link 4 129,477,779 129,515,435 RGD:8554872
RGD:11554173
G Notch1 notch 1 JBrowse link 3 3,905,562 3,951,015 RGD:8554872
RGD:11554173
G Rbpj recombination signal binding protein for immunoglobulin kappa J region JBrowse link 14 59,657,738 59,865,427 RGD:11554173
ARC syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:8554872
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog JBrowse link 6 111,271,283 111,296,013 RGD:7240710
RGD:11554173
RGD:8554872
G Vps33b VPS33B, late endosome and lysosome associated JBrowse link 1 142,060,955 142,083,955 RGD:7240710
RGD:8554872
autosomal dominant Robinow syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ror2 receptor tyrosine kinase-like orphan receptor 2 JBrowse link 17 11,953,552 12,134,386 RGD:8554872
autosomal dominant Robinow syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dvl1 dishevelled segment polarity protein 1 JBrowse link 5 173,295,948 173,308,014 RGD:8554872
RGD:7240710
autosomal dominant Robinow syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dvl3 dishevelled segment polarity protein 3 JBrowse link 11 84,051,177 84,068,479 RGD:8554872
autosomal recessive Robinow syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ror2 receptor tyrosine kinase-like orphan receptor 2 JBrowse link 17 11,953,552 12,134,386 RGD:11537347
RGD:11554173
RGD:8554872
RGD:7240710
RGD:11535948
RGD:11537348
Barber-Say syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Twist2 twist family bHLH transcription factor 2 JBrowse link 9 98,924,134 98,968,510 RGD:8554872
RGD:7240710
Beckwith-Wiedemann syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdkn1c cyclin-dependent kinase inhibitor 1C JBrowse link 1 216,661,067 216,663,791 RGD:7240710
RGD:11554173
RGD:8554872
G Igf2 insulin-like growth factor 2 JBrowse link 1 215,828,102 215,839,081 RGD:11554173
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 JBrowse link 1 216,293,087 216,630,339 RGD:11554173
G Mrpl23 mitochondrial ribosomal protein L23 JBrowse link 1 215,701,544 215,709,313 RGD:8554872
G Nsd1 nuclear receptor binding SET domain protein 1 JBrowse link 17 9,840,859 9,955,391 RGD:7240710
RGD:8554872
blepharophimosis-intellectual disability syndrome, SBBYS type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dupd1 dual specificity phosphatase and pro isomerase domain containing 1 JBrowse link 15 2,766,929 2,806,573 RGD:8554872
G Kat6b lysine acetyltransferase 6B JBrowse link 15 2,811,933 2,966,833 RGD:9588484
RGD:8554872
RGD:7240710
branchiootic syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eya1 EYA transcriptional coactivator and phosphatase 1 JBrowse link 5 4,275,728 4,495,525 RGD:7240710
RGD:8554872
Bruck syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 JBrowse link 8 99,977,334 100,059,736 RGD:8554872
cardiofaciocutaneous syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link 4 67,389,331 67,520,549 RGD:1600471
RGD:11554173
RGD:8554872
RGD:7240710
RGD:11567236
RGD:11352608
G Hras HRas proto-oncogene, GTPase JBrowse link 1 214,178,404 214,181,841 RGD:11554173
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:1600471
RGD:11554173
RGD:8554872
RGD:7240710
G Map2k1 mitogen activated protein kinase kinase 1 JBrowse link 8 69,134,218 69,722,573 RGD:7240710
RGD:11554173
RGD:8554872
G Map2k2 mitogen activated protein kinase kinase 2 JBrowse link 7 11,458,971 11,478,520 RGD:8554872
RGD:11554173
RGD:7240710
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:8554872
RGD:11554173
G Snapc5 small nuclear RNA activating complex, polypeptide 5 JBrowse link 8 69,127,708 69,131,539 RGD:8554872
Carey-Fineman-Ziter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mymk myomaker, myoblast fusion factor JBrowse link 3 5,608,243 5,617,689 RGD:8554872
CHARGE syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:9068442
G Chd7 chromodomain helicase DNA binding protein 7 JBrowse link 5 21,769,087 21,952,036 RGD:11535032
RGD:11554173
RGD:8554872
RGD:7240710
RGD:11535050
RGD:11535048
RGD:11535051
RGD:11535040
RGD:11535041
RGD:11067078
G Sema3e semaphorin 3E JBrowse link 4 17,314,745 17,594,659 RGD:7240710
RGD:8554872
chronic atrial and intestinal dysrhythmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sgo1 shugoshin 1 JBrowse link 9 4,420,158 4,435,939 RGD:8554872
RGD:7240710
chronic fatigue syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd28 Cd28 molecule JBrowse link 9 67,546,408 67,573,858 RGD:5131614
G Disc1 disrupted in schizophrenia 1 JBrowse link 19 57,818,838 58,069,992 RGD:5509831
G Prf1 perforin 1 JBrowse link 20 30,915,294 30,920,804 RGD:6482801
G Ren renin JBrowse link 13 50,502,724 50,513,953 RGD:6892702
G RT1-Ba RT1 class II, locus Ba JBrowse link 20 4,066,133 4,070,726 RGD:5147827
cocoon syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chuk conserved helix-loop-helix ubiquitous kinase JBrowse link 1 263,848,829 263,884,354 RGD:7240710
RGD:8554872
Coffin-Siris syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid1a AT-rich interaction domain 1A JBrowse link 5 151,904,687 151,977,973 RGD:8554872
RGD:11554173
G Arid1b AT-rich interaction domain 1B JBrowse link 1 45,923,119 46,232,301 RGD:8554872
RGD:11554173
RGD:11526783
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 JBrowse link 1 244,615,811 244,783,736 RGD:8554872
RGD:11554173
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 JBrowse link 8 22,648,323 22,739,468 RGD:8554872
RGD:11554173
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 JBrowse link 20 13,679,955 13,702,821 RGD:8554872
RGD:11554173
G Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 JBrowse link 10 87,116,827 87,138,890 RGD:8554872
RGD:11554173
CREST syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:12910471
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
G Arvcf ARVCF, delta catenin family member JBrowse link 11 86,736,125 86,793,795 RGD:1578806
G Comt catechol-O-methyltransferase JBrowse link 11 86,715,981 86,735,630 RGD:11554173
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
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 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
G Fgf8 fibroblast growth factor 8 JBrowse link 1 265,492,949 265,498,965 RGD:11554173
G Kat6a lysine acetyltransferase 6A JBrowse link 16 73,942,669 74,020,750 RGD:9590333
G Mylk2 myosin light chain kinase 2 JBrowse link 3 148,386,185 148,397,851 RGD:8554872
G Tbx1 T-box 1 JBrowse link 11 86,552,022 86,561,647 RGD:8554872
RGD:11554173
RGD:7240710
G Ufd1 ubiquitin recognition factor in ER associated degradation 1 JBrowse link 11 86,304,836 86,328,478 RGD:1580803
EAST syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnj10 potassium voltage-gated channel subfamily J member 10 JBrowse link 13 90,722,945 90,753,338 RGD:8662866
RGD:8554872
RGD:7240710
endocrine-cerebro-osteodysplasia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ick intestinal cell kinase JBrowse link 8 85,413,998 85,473,374 RGD:7240710
RGD:8554872
Gamstorp-Wohlfart syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hint1 histidine triad nucleotide binding protein 1 JBrowse link 10 40,208,236 40,211,981 RGD:7240710
RGD:8554872
Goldberg-Shprintzen syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif1bp KIF1 binding protein JBrowse link 20 32,191,731 32,211,295 RGD:8554872
RGD:11554173
G Ski SKI proto-oncogene JBrowse link 5 172,556,196 172,623,878 RGD:8554872
Goldenhar syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sall1 spalt-like transcription factor 1 JBrowse link 19 23,387,737 23,405,025 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
IMAGe syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdkn1c cyclin-dependent kinase inhibitor 1C JBrowse link 1 216,661,067 216,663,791 RGD:7240710
RGD:8554872
inclusion body myopathy with Paget disease of bone and frontotemporal dementia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Egf epidermal growth factor JBrowse link 2 68,820,616 68,895,537 RGD:10059681
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 JBrowse link 7 144,865,302 144,871,592 RGD:11554173
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 JBrowse link 4 81,237,496 81,241,281 RGD:10395280
RGD:11554173
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:10059681
G Vcp valosin-containing protein JBrowse link 5 58,426,548 58,445,953 RGD:8554872
RGD:7240710
irritable bowel syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bdnf brain-derived neurotrophic factor JBrowse link 3 100,768,637 100,819,216 RGD:8655978
G Cldn1 claudin 1 JBrowse link 11 77,815,216 77,830,373 RGD:11344877
G Crhr1 corticotropin releasing hormone receptor 1 JBrowse link 10 92,191,473 92,233,662 RGD:5130948
G Crhr2 corticotropin releasing hormone receptor 2 JBrowse link 4 85,286,371 85,329,374 RGD:5130948
G Htr3a 5-hydroxytryptamine receptor 3A JBrowse link 8 53,211,436 53,223,878 RGD:6480659
G Htr7 5-hydroxytryptamine receptor 7 JBrowse link 1 254,547,964 254,671,811 RGD:6480673
G Ikbkg inhibitor of nuclear factor kappa B kinase subunit gamma JBrowse link X 156,254,187 156,280,046 RGD:12791275
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:11554173
G Nos3 nitric oxide synthase 3 JBrowse link 4 7,321,908 7,342,404 RGD:7771566
G Pdia3 protein disulfide isomerase family A, member 3 JBrowse link 3 113,376,983 113,400,707 RGD:9999158
G Rpsa ribosomal protein SA JBrowse link 8 128,806,053 128,809,987 RGD:5686874
G Tpsab1 tryptase alpha/beta 1 JBrowse link 10 14,701,253 14,703,668 RGD:11554173
Jensen syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Timm8a1 translocase of inner mitochondrial membrane 8 homolog A1 (yeast) JBrowse link X 105,351,714 105,355,722 RGD:7240710
RGD:11554173
RGD:13209136
RGD:13209130
RGD:13209134
RGD:8554872
Kabuki syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kdm6a lysine demethylase 6A JBrowse link X 4,805,493 4,945,788 RGD:11554173
G Kmt2d lysine methyltransferase 2D JBrowse link 7 140,507,137 140,542,479 RGD:9588235
RGD:11554173
RGD:8554872
RGD:7240710
KBG syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankrd11 ankyrin repeat domain 11 JBrowse link 19 55,703,831 55,862,446 RGD:8554872
RGD:7240710
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:9589137
RGD:8554872
RGD:7240710
RGD:9589139
RGD:9589144
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
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
lethal congenital contracture syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gle1 GLE1 RNA export mediator JBrowse link 3 8,498,098 8,530,218 RGD:8554872
lethal congenital contracture syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gle1 GLE1 RNA export mediator JBrowse link 3 8,498,098 8,530,218 RGD:8554872
RGD:11554173
RGD:7240710
lethal congenital contracture syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Erbb3 erb-b2 receptor tyrosine kinase 3 JBrowse link 7 2,989,202 3,010,610 RGD:7240710
RGD:8554872
lethal congenital contracture syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pip5k1c phosphatidylinositol-4-phosphate 5-kinase type 1 gamma JBrowse link 7 11,267,207 11,294,291 RGD:7240710
RGD:8554872
lethal congenital contracture syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mybpc1 myosin binding protein C, slow type JBrowse link 7 29,086,159 29,171,909 RGD:7240710
RGD:8554872
mandibulofacial dysostosis with alopecia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ednra endothelin receptor type A JBrowse link 19 33,928,356 33,991,703 RGD:7240710
RGD:8554872
Marshall-Smith syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nf1x nuclear factor 1 X JBrowse link 19 25,818,640 25,914,777 RGD:8554872
RGD:7240710
MEDNIK syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap1s1 adaptor-related protein complex 1, sigma 1 subunit JBrowse link 12 22,665,128 22,676,079 RGD:9684947
RGD:11554173
RGD:8554872
RGD:7240710
megacystis-microcolon-intestinal hypoperistalsis syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actg2 actin, gamma 2, smooth muscle, enteric JBrowse link 4 115,215,160 115,239,746 RGD:8554872
RGD:11554173
RGD:7240710
G Lmod1 leiomodin 1 JBrowse link 13 52,147,099 52,189,835 RGD:8554872
G Myh11 myosin heavy chain 11 JBrowse link 10 764,421 859,184 RGD:8554872
G Mylk myosin light chain kinase JBrowse link 11 69,013,060 69,260,039 RGD:8554872
microcephaly and chorioretinopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plk4 polo-like kinase 4 JBrowse link 2 127,686,911 127,705,518 RGD:11554173
G Tubgcp4 tubulin, gamma complex associated protein 4 JBrowse link 3 113,131,292 113,160,750 RGD:11554173
G Tubgcp6 tubulin, gamma complex associated protein 6 JBrowse link 7 130,080,895 130,102,247 RGD:7240710
RGD:8554872
microcephaly and chorioretinopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plk4 polo-like kinase 4 JBrowse link 2 127,686,911 127,705,518 RGD:7240710
RGD:8554872
microcephaly and chorioretinopathy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp53bp1 tumor protein p53 binding protein 1 JBrowse link 3 113,160,030 113,259,701 RGD:8554872
G Tubgcp4 tubulin, gamma complex associated protein 4 JBrowse link 3 113,131,292 113,160,750 RGD:7240710
RGD:8554872
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif11 kinesin family member 11 JBrowse link 1 256,035,866 256,088,299 RGD:8554872
RGD:7240710
mosaic variegated aneuploidy syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B JBrowse link 3 110,367,949 110,420,471 RGD:8554872
RGD:11554173
RGD:7240710
G Cep57 centrosomal protein 57 JBrowse link 8 12,335,430 12,355,425 RGD:8554872
RGD:11554173
G Trip13 thyroid hormone receptor interactor 13 JBrowse link 1 31,967,980 32,012,923 RGD:11554173
mosaic variegated aneuploidy syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep57 centrosomal protein 57 JBrowse link 8 12,335,430 12,355,425 RGD:7240710
RGD:8554872
Mowat-Wilson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gtdc1 glycosyltransferase-like domain containing 1 JBrowse link 3 29,410,426 29,705,981 RGD:8554872
G Zeb2 zinc finger E-box binding homeobox 2 JBrowse link 3 29,857,289 29,985,932 RGD:8554872
RGD:11554173
RGD:7240710
G Zeb2os zinc finger E-box binding homeobox 2, opposite strand JBrowse link 3 29,994,753 29,997,626 RGD:8554872
multiple chemical sensitivity term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
multiple congenital anomalies-hypotonia-seizures syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pign phosphatidylinositol glycan anchor biosynthesis, class N JBrowse link 13 25,510,593 25,662,943 RGD:7240710
RGD:8554872
multiple congenital anomalies-hypotonia-seizures syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Piga phosphatidylinositol glycan anchor biosynthesis, class A JBrowse link X 31,786,823 31,799,751 RGD:7240710
RGD:8554872
multiple congenital anomalies-hypotonia-seizures syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T JBrowse link 3 160,945,556 160,954,738 RGD:7240710
RGD:8554872
N syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pola1 DNA polymerase alpha 1, catalytic subunit JBrowse link X 62,382,604 62,698,830 RGD:7240710
Noonan syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G A2ml1 alpha-2-macroglobulin-like 1 JBrowse link 4 161,863,609 161,907,897 RGD:8554872
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link 4 67,389,331 67,520,549 RGD:8554872
RGD:11554173
G Cbl Cbl proto-oncogene JBrowse link 8 48,481,256 48,564,775 RGD:8554872
G Dmpk DM1 protein kinase JBrowse link 1 79,988,096 79,999,358 RGD:8554872
G Epha2 Eph receptor A2 JBrowse link 5 159,845,773 159,874,203 RGD:11554173
G F11 coagulation factor XI JBrowse link 16 50,179,458 50,201,644 RGD:11041743
G Hras HRas proto-oncogene, GTPase JBrowse link 1 214,178,404 214,181,841 RGD:11554173
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:11352540
RGD:11063837
G Igfals insulin-like growth factor binding protein, acid labile subunit JBrowse link 10 14,240,308 14,243,554 RGD:11063837
G Kat6b lysine acetyltransferase 6B JBrowse link 15 2,811,933 2,966,833 RGD:9590337
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:1600472
RGD:11554173
RGD:8554872
RGD:11060134
G Map2k1 mitogen activated protein kinase kinase 1 JBrowse link 8 69,134,218 69,722,573 RGD:8554872
RGD:11554173
G Map2k2 mitogen activated protein kinase kinase 2 JBrowse link 7 11,458,971 11,478,520 RGD:11554173
G Nras NRAS proto-oncogene, GTPase JBrowse link 2 205,553,119 205,563,716 RGD:8554872
RGD:11554173
G Plat plasminogen activator, tissue type JBrowse link 16 74,098,263 74,122,897 RGD:13207331
G Plg plasminogen JBrowse link 1 48,521,828 48,563,895 RGD:13207331
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:11352540
RGD:11554173
RGD:8554872
RGD:1581292
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase JBrowse link 4 147,532,040 147,592,769 RGD:8554872
RGD:11554173
RGD:11064112
RGD:11063621
RGD:11064431
RGD:12910711
G Rit1 Ras-like without CAAX 1 JBrowse link 2 188,087,486 188,099,444 RGD:8554872
G Rpl6 ribosomal protein L6 JBrowse link 12 40,877,578 40,882,032 RGD:8554872
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:13207331
G Shoc2 SHOC2 leucine-rich repeat scaffold protein JBrowse link 1 274,700,621 274,751,195 RGD:8554872
RGD:11554173
G Snapc5 small nuclear RNA activating complex, polypeptide 5 JBrowse link 8 69,127,708 69,131,539 RGD:8554872
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 JBrowse link 6 3,105,443 3,182,977 RGD:11067112
RGD:11554173
RGD:8554872
Noonan syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link 4 67,389,331 67,520,549 RGD:8554872
G Nras NRAS proto-oncogene, GTPase JBrowse link 2 205,553,119 205,563,716 RGD:8554872
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:7240710
RGD:8554872
Noonan syndrome 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lztr1 leucine-zipper-like transcription regulator 1 JBrowse link 11 87,381,638 87,397,849 RGD:8554872
RGD:7240710
Noonan syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:7240710
RGD:8554872
Noonan syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hgf hepatocyte growth factor JBrowse link 4 15,435,460 15,505,377 RGD:7240710
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 JBrowse link 6 3,105,443 3,182,977 RGD:11063543
RGD:8554872
RGD:7240710
RGD:11063178
RGD:11063026
Noonan syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase JBrowse link 4 147,532,040 147,592,769 RGD:7240710
RGD:8554872
Noonan syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nras NRAS proto-oncogene, GTPase JBrowse link 2 205,553,119 205,563,716 RGD:7240710
RGD:8554872
Noonan syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link 4 67,389,331 67,520,549 RGD:8554872
RGD:7240710
Noonan syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rit1 Ras-like without CAAX 1 JBrowse link 2 188,087,486 188,099,444 RGD:8554872
RGD:7240710
Noonan syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sos2 SOS Ras/Rho guanine nucleotide exchange factor 2 JBrowse link 6 91,885,292 92,008,059 RGD:7240710
RGD:8554872
oculoauricular syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hmx1 H6 family homeobox 1 JBrowse link 14 80,540,558 80,544,607 RGD:7240710
RGD:8554872
oculodentodigital dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:1578474
RGD:12910132
RGD:8554872
RGD:7240710
RGD:8662400
RGD:8662375
RGD:8662372
Ohdo syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:8554872
RGD:11554173
Ollier disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ext1 exostosin glycosyltransferase 1 JBrowse link 7 92,605,008 92,881,392 RGD:8554872
G Idh1 isocitrate dehydrogenase (NADP(+)) 1, cytosolic JBrowse link 9 71,882,108 71,911,645 RGD:11554173
G Idh2 isocitrate dehydrogenase (NADP(+)) 2, mitochondrial JBrowse link 1 141,874,354 141,893,674 RGD:11554173
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:11554173
Perlman syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dis3l2 DIS3-like 3'-5' exoribonuclease 2 JBrowse link 9 93,767,837 94,161,106 RGD:8554872
RGD:11554173
RGD:7240710
Perry syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dctn1 dynactin subunit 1 JBrowse link 4 114,876,770 114,896,567 RGD:5535748
RGD:8554872
RGD:7240710
RGD:5534575
persian gulf syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pon1 paraoxonase 1 JBrowse link 4 30,249,749 30,276,297 RGD:11554173
Pitt-Hopkins syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cntnap2 contactin associated protein-like 2 JBrowse link 4 74,700,539 77,025,463 RGD:13450912
RGD:11554173
G Nrxn1 neurexin 1 JBrowse link 6 13,886,757 15,191,660 RGD:11554173
G Tcf4 transcription factor 4 JBrowse link 18 65,285,320 65,507,983 RGD:8554872
RGD:11554173
RGD:7240710
polycystic ovary syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb6 ATP binding cassette subfamily B member 6 JBrowse link 9 82,373,950 82,382,228 RGD:11554173
G Adamts7 ADAM metallopeptidase with thrombospondin type 1 motif, 7 JBrowse link 8 97,535,777 97,575,661 RGD:11554173
G Adarb1 adenosine deaminase, RNA-specific, B1 JBrowse link 20 11,972,352 12,101,022 RGD:11554173
G Adipoq adiponectin, C1Q and collagen domain containing JBrowse link 11 81,330,845 81,344,488 RGD:8694433
G Adra1a adrenoceptor alpha 1A JBrowse link 15 43,296,997 43,398,314 RGD:5508374
G Adra1b adrenoceptor alpha 1B JBrowse link 10 29,392,762 29,450,644 RGD:5508374
G Adra1d adrenoceptor alpha 1D JBrowse link 3 124,129,558 124,145,566 RGD:5508374
G Adrb2 adrenoceptor beta 2 JBrowse link 18 57,513,792 57,515,834 RGD:5508374
G Adrb3 adrenoceptor beta 3 JBrowse link 16 69,003,541 69,006,632 RGD:2313167
G Akr1c2 aldo-keto reductase family 1, member C2 JBrowse link 17 69,388,337 69,435,160 RGD:11554173
G Akr1c3 aldo-keto reductase family 1, member C3 JBrowse link 17 69,761,126 69,778,021 RGD:11541125
RGD:11554173
G Amh anti-Mullerian hormone JBrowse link 7 11,775,155 11,777,503 RGD:1601181
G Anln anillin, actin binding protein JBrowse link 8 23,336,455 23,397,122 RGD:11554173
G Ar androgen receptor JBrowse link X 67,656,253 67,828,998 RGD:1578688
G Arhgap23 Rho GTPase activating protein 23 JBrowse link 10 85,387,219 85,445,805 RGD:11554173
G Arhgap30 Rho GTPase activating protein 30 JBrowse link 13 89,774,764 89,796,113 RGD:11554173
G Aspm abnormal spindle microtubule assembly JBrowse link 13 56,546,021 56,591,793 RGD:11554173
G Atf1 activating transcription factor 1 JBrowse link 7 141,882,261 141,924,790 RGD:11554173
G Azgp1 alpha-2-glycoprotein 1, zinc-binding JBrowse link 12 19,196,565 19,203,094 RGD:11554173
G Bax BCL2 associated X, apoptosis regulator JBrowse link 1 101,451,801 101,457,207 RGD:11554173
G Bbof1 basal body orientation factor 1 JBrowse link 6 108,123,855 108,149,613 RGD:11554173
G Bcl11a B-cell CLL/lymphoma 11A JBrowse link 14 108,826,717 108,921,197 RGD:11554173
G Bcl2 BCL2, apoptosis regulator JBrowse link 13 26,605,426 26,769,374 RGD:10054496
RGD:11554173
G Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 JBrowse link 1 80,414,766 80,417,385 RGD:11554173
G Bmp15 bone morphogenetic protein 15 JBrowse link X 17,016,831 17,021,894 RGD:11554173
G Camk2d calcium/calmodulin-dependent protein kinase II delta JBrowse link 2 230,900,907 231,132,207 RGD:11554173
G Capn10 calpain 10 JBrowse link 9 100,104,000 100,112,833 RGD:1625046
G Carmil3 capping protein regulator and myosin 1 linker 3 JBrowse link 15 34,167,146 34,184,799 RGD:11554173
G Ccnb1 cyclin B1 JBrowse link 2 30,782,133 30,791,106 RGD:11554173
G Ccne2 cyclin E2 JBrowse link 5 24,434,077 24,446,406 RGD:11554173
G Cd36 CD36 molecule JBrowse link 4 14,150,309 14,191,498 RGD:11041149
G Cdc6 cell division cycle 6 JBrowse link 10 86,819,477 86,833,301 RGD:11554173
G Cdh15 cadherin 15 JBrowse link 19 55,669,661 55,689,986 RGD:11554173
G Cep55 centrosomal protein 55 JBrowse link 1 256,745,251 256,760,794 RGD:11554173
G Cks2 CDC28 protein kinase regulatory subunit 2 JBrowse link 17 13,587,664 13,593,423 RGD:11554173
G Cldn4 claudin 4 JBrowse link 12 24,761,210 24,763,008 RGD:11554173
G Cmtr2 cap methyltransferase 2 JBrowse link 19 41,426,536 41,433,367 RGD:11554173
G Cntrob centrobin, centriole duplication and spindle assembly protein JBrowse link 10 55,901,929 55,927,121 RGD:11554173
G Comt catechol-O-methyltransferase JBrowse link 11 86,715,981 86,735,630 RGD:2289711
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 JBrowse link 1 266,422,127 266,429,947 RGD:4888511
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 JBrowse link 8 58,744,849 58,772,408 RGD:7257717
RGD:11554173
RGD:7257726
RGD:7257710
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 JBrowse link 8 62,472,087 62,478,122 RGD:11576309
G Dact3 dishevelled-binding antagonist of beta-catenin 3 JBrowse link 1 78,800,754 78,812,483 RGD:11554173
G Dcbld2 discoidin, CUB and LCCL domain containing 2 JBrowse link 11 44,237,814 44,292,884 RGD:11554173
G Ddx54 DEAD-box helicase 54 JBrowse link 12 41,469,642 41,484,887 RGD:11554173
G Dlg4 discs large MAGUK scaffold protein 4 JBrowse link 10 56,625,845 56,655,543 RGD:11554173
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:11554173
G Elavl3 ELAV like RNA binding protein 3 JBrowse link 8 23,029,980 23,063,477 RGD:11554173
G Emsy EMSY BRCA2-interacting transcriptional repressor JBrowse link 1 163,541,071 163,618,576 RGD:11554173
G Errfi1 ERBB receptor feedback inhibitor 1 JBrowse link 5 167,951,564 167,966,011 RGD:11554173
G Fam84a family with sequence similarity 84, member A JBrowse link 6 39,358,285 39,363,458 RGD:11554173
G Fbxo44 F-box protein 44 JBrowse link 5 164,962,921 164,972,273 RGD:11554173
G Fgf18 fibroblast growth factor 18 JBrowse link 10 18,047,109 18,082,290 RGD:11554173
G Flt4 fms-related tyrosine kinase 4 JBrowse link 10 35,078,782 35,120,296 RGD:11554173
G Foxp3 forkhead box P3 JBrowse link X 15,753,175 15,768,648 RGD:11554173
G Fshr follicle stimulating hormone receptor JBrowse link 6 12,796,383 12,997,817 RGD:11554173
G Fst follistatin JBrowse link 2 46,537,589 46,544,813 RGD:1601259
G Fut7 fucosyltransferase 7 JBrowse link 3 2,637,281 2,646,497 RGD:11554173
G Gab1 GRB2-associated binding protein 1 JBrowse link 19 30,794,290 30,903,819 RGD:11554173
G Gdf9 growth differentiation factor 9 JBrowse link 10 38,782,519 38,793,238 RGD:11554173
G Gip gastric inhibitory polypeptide JBrowse link 10 83,835,080 83,848,399 RGD:2312588
G Gnas GNAS complex locus JBrowse link 3 172,374,957 172,434,988 RGD:11554173
G Gp1bb glycoprotein Ib platelet beta subunit JBrowse link 11 86,520,992 86,522,169 RGD:11554173
G Hacd1 3-hydroxyacyl-CoA dehydratase 1 JBrowse link 17 81,173,238 81,196,012 RGD:11554173
G Hells helicase, lymphoid specific JBrowse link 1 257,901,856 257,953,889 RGD:11554173
G Hmmr hyaluronan-mediated motility receptor JBrowse link 10 25,861,490 25,890,639 RGD:11554173
G Hook3 hook microtubule-tethering protein 3 JBrowse link 16 70,710,347 70,818,789 RGD:11554173
G Hsd17b7 hydroxysteroid (17-beta) dehydrogenase 7 JBrowse link 13 88,288,116 88,308,019 RGD:10402205
G Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 RGD:4888511
RGD:11554173
RGD:4145934
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 JBrowse link 2 200,712,895 200,722,429 RGD:11554173
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:8549491
G Ighg1 immunoglobulin heavy constant gamma 1 JBrowse link 6 139,140,572 139,784,388 RGD:11554173
G Il34 interleukin 34 JBrowse link 19 40,855,537 40,905,007 RGD:11554173
G Ins2 insulin 2 JBrowse link 1 215,856,967 215,858,034 RGD:11554173
G Iqcc IQ motif containing C JBrowse link 5 147,819,040 147,823,281 RGD:11554173
G Isyna1 inositol-3-phosphate synthase 1 JBrowse link 16 20,589,497 20,592,333 RGD:11554173
G Jsrp1 junctional sarcoplasmic reticulum protein 1 JBrowse link 7 11,769,950 11,774,373 RGD:11554173
G Larp4 La ribonucleoprotein domain family, member 4 JBrowse link 7 141,630,229 141,676,242 RGD:11554173
G Lep leptin JBrowse link 4 56,337,695 56,351,818 RGD:11554173
G Lhb luteinizing hormone beta polypeptide JBrowse link 1 101,409,992 101,413,725 RGD:11554173
G Lif LIF, interleukin 6 family cytokine JBrowse link 14 84,482,652 84,500,574 RGD:11554173
G Lifr LIF receptor alpha JBrowse link 2 56,424,910 56,489,346 RGD:11554173
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:11554173
G Lpcat2 lysophosphatidylcholine acyltransferase 2 JBrowse link 19 15,470,177 15,540,704 RGD:11554173
G Lsm5 LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated JBrowse link 4 87,016,003 87,019,219 RGD:11554173
G Ltk leukocyte receptor tyrosine kinase JBrowse link 3 111,553,679 111,560,556 RGD:11554173
G Mad2l1 mitotic arrest deficient 2 like 1 JBrowse link 4 97,530,993 97,543,179 RGD:11554173
G Manea mannosidase, endo-alpha JBrowse link 5 40,845,103 40,867,025 RGD:11554173
G Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 JBrowse link 10 14,259,394 14,299,276 RGD:11554173
G Mapre3 microtubule-associated protein, RP/EB family, member 3 JBrowse link 6 26,878,738 26,923,459 RGD:11554173
G Mgat5b mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B JBrowse link 10 105,861,734 105,932,048 RGD:11554173
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:9999396
G Morn1 MORN repeat containing 1 JBrowse link 5 172,489,160 172,547,102 RGD:11554173
G Mtnr1b melatonin receptor 1B JBrowse link 8 14,359,270 14,373,894 RGD:11554173
G Mybl1 MYB proto-oncogene like 1 JBrowse link 5 9,279,756 9,315,112 RGD:11554173
G Ncoa4 nuclear receptor coactivator 4 JBrowse link 16 8,302,950 8,323,294 RGD:2293533
G Ncor1 nuclear receptor co-repressor 1 JBrowse link 10 48,629,121 48,772,890 RGD:5688285
G Ngfr nerve growth factor receptor JBrowse link 10 83,389,828 83,408,061 RGD:5508374
G Nmnat3 nicotinamide nucleotide adenylyltransferase 3 JBrowse link 8 106,317,038 106,429,535 RGD:11554173
G Nop53 NOP53 ribosome biogenesis factor JBrowse link 1 77,836,522 77,843,991 RGD:11554173
G Npb neuropeptide B JBrowse link 10 109,786,222 109,786,656 RGD:11554173
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 JBrowse link 18 31,728,373 32,704,022 RGD:7174741
G Nrg1 neuregulin 1 JBrowse link 16 62,969,573 64,065,063 RGD:11554173
G Odf3b outer dense fiber of sperm tails 3B JBrowse link 7 130,347,945 130,351,573 RGD:11554173
G Pbk PDZ binding kinase JBrowse link 15 42,489,253 42,500,377 RGD:11554173
G Pde3b phosphodiesterase 3B JBrowse link 1 183,892,841 184,078,071 RGD:11554173
G Pdlim4 PDZ and LIM domain 4 JBrowse link 10 39,390,578 39,405,322 RGD:11554173
G Pecam1 platelet and endothelial cell adhesion molecule 1 JBrowse link 10 94,850,971 94,913,202 RGD:6767304
G Pgr progesterone receptor JBrowse link 8 7,128,656 7,187,796 RGD:4145934
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 JBrowse link 5 169,244,778 169,288,310 RGD:11554173
G Pnpla2 patatin-like phospholipase domain containing 2 JBrowse link 1 214,434,638 214,439,720 RGD:11554173
G Prkd2 protein kinase D2 JBrowse link 1 78,767,911 78,796,223 RGD:11554173
G Ptafr platelet-activating factor receptor JBrowse link 5 150,746,284 150,775,675 RGD:11554173
G Ptcra pre T-cell antigen receptor alpha JBrowse link 9 16,528,970 16,539,383 RGD:11554173
G Ptger3 prostaglandin E receptor 3 JBrowse link 2 263,895,093 263,979,682 RGD:11554173
G Pwwp2b PWWP domain containing 2B JBrowse link 1 211,579,706 211,600,715 RGD:11554173
G Rab2a RAB2A, member RAS oncogene family JBrowse link 5 21,632,654 21,696,721 RGD:11554173
G Racgap1 Rac GTPase-activating protein 1 JBrowse link 7 141,277,303 141,308,849 RGD:11554173
G Rasl10b RAS-like, family 10, member B JBrowse link 10 70,626,227 70,639,072 RGD:11554173
G Rbp4 retinol binding protein 4 JBrowse link 1 256,806,476 256,813,678 RGD:11554173
G Rexo1 RNA exonuclease 1 homolog JBrowse link 7 12,022,268 12,041,660 RGD:11554173
G RGD1565498 similar to Hypothetical protein LOC270802 JBrowse link 7 63,922,871 63,937,721 RGD:11554173
G Rhpn1 rhophilin, Rho GTPase binding protein 1 JBrowse link 7 116,738,999 116,749,791 RGD:11554173
G Rp2 RP2, ARL3 GTPase activating protein JBrowse link X 2,066,298 2,116,661 RGD:11554173
G Rpl37a ribosomal protein L37a JBrowse link 9 80,002,892 80,004,995 RGD:11554173
G Rrm2 ribonucleotide reductase regulatory subunit M2 JBrowse link 6 43,884,627 43,890,818 RGD:11554173
G Runx3 runt-related transcription factor 3 JBrowse link 5 153,507,093 153,531,137 RGD:11554173
G S100a7a S100 calcium binding protein A7A JBrowse link 2 190,058,093 190,063,132 RGD:11554173
G Sap30l SAP30-like JBrowse link 10 43,224,151 43,231,864 RGD:11554173
G Scnn1a sodium channel epithelial 1 alpha subunit JBrowse link 4 157,834,339 157,860,472 RGD:11554173
G Sct secretin JBrowse link 1 214,264,865 214,277,437 RGD:11554173
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:13208505
G Sftpc surfactant protein C JBrowse link 15 52,211,538 52,214,480 RGD:11554173
G Slpi secretory leukocyte peptidase inhibitor JBrowse link 3 160,799,979 160,802,228 RGD:9999396
G Sox15 SRY box 15 JBrowse link 10 56,260,514 56,263,503 RGD:11554173
G Spata21 spermatogenesis associated 21 JBrowse link 5 159,612,541 159,638,073 RGD:11554173
G Sptbn4 spectrin, beta, non-erythrocytic 4 JBrowse link 1 84,168,494 84,254,679 RGD:11554173
G Srd5a1 steroid 5 alpha-reductase 1 JBrowse link 1 36,320,504 36,354,694 RGD:11554173
G Srsf10 serine and arginine rich splicing factor 10 JBrowse link 5 154,205,358 154,219,550 RGD:11554173
G Star steroidogenic acute regulatory protein JBrowse link 16 71,036,204 71,040,847 RGD:4145934
RGD:11554173
G Tab1 TGF-beta activated kinase 1/MAP3K7 binding protein 1 JBrowse link 7 121,350,953 121,382,100 RGD:11554173
G Tbx1 T-box 1 JBrowse link 11 86,552,022 86,561,647 RGD:11554173
G Tcf15 transcription factor 15 JBrowse link 3 147,643,250 147,649,511 RGD:11554173
G Tead2 TEA domain transcription factor 2 JBrowse link 1 101,213,782 101,230,483 RGD:11554173
G Tfrc transferrin receptor JBrowse link 11 71,397,423 71,419,263 RGD:11554173
G Th tyrosine hydroxylase JBrowse link 1 216,073,034 216,080,287 RGD:5508374
G Thap3 THAP domain containing 3 JBrowse link 5 169,155,239 169,160,987 RGD:11554173
G Tmeff2 transmembrane protein with EGF-like and two follistatin-like domains 2 JBrowse link 9 55,379,130 55,673,704 RGD:11554173
G Tmem151a transmembrane protein 151A JBrowse link 1 220,373,288 220,378,080 RGD:11554173
G Tmem151b transmembrane protein 151B JBrowse link 9 17,841,410 17,846,535 RGD:11554173
G Tmf1 TATA element modulatory factor 1 JBrowse link 4 129,521,986 129,546,024 RGD:11554173
G Tnfsf10 TNF superfamily member 10 JBrowse link 2 113,008,008 113,026,899 RGD:2312746
G Tnpo2 transportin 2 JBrowse link 19 26,149,671 26,171,812 RGD:11554173
G Tnrc6b trinucleotide repeat containing 6B JBrowse link 7 121,930,610 122,147,934 RGD:11554173
G Tonsl tonsoku-like, DNA repair protein JBrowse link 7 117,688,397 117,703,139 RGD:11554173
G Top2a DNA topoisomerase II alpha JBrowse link 10 86,901,467 86,930,947 RGD:11554173
G Trpv6 transient receptor potential cation channel, subfamily V, member 6 JBrowse link 4 70,918,631 70,934,291 RGD:11554173
G Ttk Ttk protein kinase JBrowse link 8 91,368,065 91,405,995 RGD:11554173
G Ttll9 tubulin tyrosine ligase like 9 JBrowse link 3 148,426,008 148,485,370 RGD:11554173
G Ube2h ubiquitin-conjugating enzyme E2H JBrowse link 4 57,511,418 57,625,147 RGD:11554173
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:13210783
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:8549491
G Zfp13 zinc finger protein 13 JBrowse link 10 12,908,643 12,916,784 RGD:11554173
G Zmym5 zinc finger MYM-type containing 5 JBrowse link 15 37,039,481 37,061,958 RGD:11554173
G Zswim9 zinc finger SWIM-type containing 9 JBrowse link 1 75,335,183 75,356,130 RGD:11554173
primary hypertrophic osteoarthropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hpgd 15-hydroxyprostaglandin dehydrogenase JBrowse link 16 37,457,134 37,495,758 RGD:7240710
RGD:11554173
RGD:8554872
G Slco2a1 solute carrier organic anion transporter family, member 2a1 JBrowse link 8 111,495,443 111,577,320 RGD:11554173
prune belly syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrm3 cholinergic receptor, muscarinic 3 JBrowse link 17 63,990,599 64,463,222 RGD:7240710
RGD:11554173
psoriatic arthritis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:11554173
G Ccl4 C-C motif chemokine ligand 4 JBrowse link 10 70,870,926 70,886,357 RGD:5683894
G Ccr2 C-C motif chemokine receptor 2 RGD:8661745
G Cd68 Cd68 molecule JBrowse link 10 56,268,726 56,270,605 RGD:11554173
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 JBrowse link 8 62,472,087 62,478,122 RGD:5147746
G Fbxl19 F-box and leucine-rich repeat protein 19 JBrowse link 1 199,196,126 199,217,147 RGD:11554173
G Il12b interleukin 12B JBrowse link 10 30,034,447 30,048,774 RGD:11554173
G Il13 interleukin 13 JBrowse link 10 38,982,909 38,985,466 RGD:8549552
RGD:8549517
G Il17a interleukin 17A JBrowse link 9 26,841,299 26,844,786 RGD:8698658
RGD:9068444
G Irak1 interleukin-1 receptor-associated kinase 1 JBrowse link X 156,716,469 156,726,367 RGD:7495783
G Lta lymphotoxin alpha JBrowse link 20 4,851,889 4,854,677 RGD:8548821
RGD:11554173
RGD:7240710
RGD:8554872
G Mefv MEFV, pyrin innate immunity regulator JBrowse link 10 12,045,813 12,056,229 RGD:11554173
G Mmp1 matrix metallopeptidase 1 JBrowse link 8 5,703,206 5,723,593 RGD:7207129
G Mmp3 matrix metallopeptidase 3 JBrowse link 8 5,676,608 5,698,579 RGD:7241254
G Nod2 nucleotide-binding oligomerization domain containing 2 JBrowse link 19 19,342,061 19,389,366 RGD:7240710
G Nos2 nitric oxide synthase 2 JBrowse link 10 66,188,290 66,221,621 RGD:11554173
G Nr4a2 nuclear receptor subfamily 4, group A, member 2 JBrowse link 3 43,111,258 43,128,391 RGD:11554173
G Pecam1 platelet and endothelial cell adhesion molecule 1 JBrowse link 10 94,850,971 94,913,202 RGD:6771221
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 JBrowse link 2 206,342,066 206,390,348 RGD:6484592
G Runx2 runt-related transcription factor 2 JBrowse link 9 18,564,743 18,773,092 RGD:11554173
G Stat3 signal transducer and activator of transcription 3 JBrowse link 10 88,790,401 88,842,263 RGD:8694309
G Stat4 signal transducer and activator of transcription 4 JBrowse link 9 54,340,649 54,457,753 RGD:8661724
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:7394813
RGD:11554173
RGD:8554872
G Traf3ip2 Traf3 interacting protein 2 JBrowse link 20 44,679,861 44,722,874 RGD:11554173
PTEN hamartoma tumor syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:8554872
Ritscher-Schinzel syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc22 coiled-coil domain containing 22 JBrowse link X 15,742,978 15,754,925 RGD:11554173
G Washc5 WASH complex subunit 5 JBrowse link 7 99,625,379 99,677,237 RGD:7240710
RGD:8554872
Ritscher-Schinzel syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc22 coiled-coil domain containing 22 JBrowse link X 15,742,978 15,754,925 RGD:7240710
RGD:8554872
Robinow syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dvl1 dishevelled segment polarity protein 1 JBrowse link 5 173,295,948 173,308,014 RGD:11554173
G Dvl3 dishevelled segment polarity protein 3 JBrowse link 11 84,051,177 84,068,479 RGD:8554872
RGD:11554173
G Ror2 receptor tyrosine kinase-like orphan receptor 2 JBrowse link 17 11,953,552 12,134,386 RGD:8554872
G Wnt5a Wnt family member 5A JBrowse link 16 4,469,451 4,490,271 RGD:8554872
RGD:7240710
Saldino-Noonan syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 8 5,217,054 5,436,969 RGD:8554872
Shwachman-Diamond syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sbds SBDS, ribosome maturation factor JBrowse link 12 29,921,443 29,930,602 RGD:8554872
RGD:7240710
G Sds serine dehydratase JBrowse link 12 41,620,429 41,627,741 RGD:7240710
sudden infant death 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:11554173
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit JBrowse link 2 189,088,570 189,096,785 RGD:11554173
G Gpd1l glycerol-3-phosphate dehydrogenase 1-like JBrowse link 8 122,957,570 122,987,236 RGD:8554872
G Kcnh2 potassium voltage-gated channel subfamily H member 2 JBrowse link 4 7,355,066 7,387,282 RGD:8554872
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 JBrowse link 1 216,293,087 216,630,339 RGD:8554872
G Mt-nd1 mitochondrially encoded NADH dehydrogenase 1 JBrowse link MT 2,740 3,694 RGD:8554872
G Scn1b sodium voltage-gated channel beta subunit 1 JBrowse link 1 89,550,738 89,560,469 RGD:11554173
G Scn4b sodium voltage-gated channel beta subunit 4 JBrowse link 8 49,441,106 49,456,279 RGD:8554872
G Scn5a sodium voltage-gated channel alpha subunit 5 JBrowse link 8 128,169,191 128,266,681 RGD:7240710
RGD:8554872
G Slc6a4 solute carrier family 6 member 4 JBrowse link 10 63,153,656 63,188,377 RGD:11554173
G Snta1 syntrophin, alpha 1 JBrowse link 3 149,874,023 149,905,980 RGD:6771369
G Tspyl1 TSPY-like 1 JBrowse link 20 41,083,317 41,085,876 RGD:1599672
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:634255
Takayasu's arteritis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ager advanced glycosylation end product-specific receptor JBrowse link 20 4,363,152 4,366,079 RGD:8695992
G Il2 interleukin 2 JBrowse link 2 123,847,150 123,851,854 RGD:8663467
RGD:8693331
G Mmp3 matrix metallopeptidase 3 JBrowse link 8 5,676,608 5,698,579 RGD:8693315
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:8693315
G Nos2 nitric oxide synthase 2 JBrowse link 10 66,188,290 66,221,621 RGD:11554173
Tietze's syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mitf melanogenesis associated transcription factor JBrowse link 4 130,172,484 130,425,496 RGD:1599943
tooth and nail syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Msx1 msh homeobox 1 JBrowse link 14 77,712,262 77,716,061 RGD:7240710
RGD:8554872
ulnar-mammary syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbx3 T-box 3 JBrowse link 12 42,479,518 42,494,588 RGD:8554872
RGD:7240710
RGD:11554173
VACTERL association term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fn1 fibronectin 1 JBrowse link 9 78,900,111 78,969,018 RGD:7205466
G Foxf1 forkhead box F1 JBrowse link 19 53,012,306 53,016,100 RGD:8554872
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:8554872
RGD:11554173
G Pcsk5 proprotein convertase subtilisin/kexin type 5 JBrowse link 1 236,031,988 236,313,858 RGD:11556208
RGD:11554173
G Shh sonic hedgehog JBrowse link 4 718,538 727,691 RGD:12801426
Van der Woude syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Irf6 interferon regulatory factor 6 JBrowse link 13 111,870,121 111,889,328 RGD:8554872
RGD:11554173
RGD:7240710
G LOC100125367 hypothetical protein LOC100125367 JBrowse link 13 111,890,825 111,893,308 RGD:8554872
Van Maldergem syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh19 cadherin 19 JBrowse link 13 32,344,954 32,469,887 RGD:7240710
G Dchs1 dachsous cadherin-related 1 JBrowse link 1 170,594,981 170,629,062 RGD:8554872
RGD:11554173
RGD:7240710
G Fat4 FAT atypical cadherin 4 JBrowse link 2 125,751,818 125,879,398 RGD:11554173
Warsaw breakage syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ddx11 DEAD/H-box helicase 11 JBrowse link 9 114,113,642 114,133,908 RGD:8554872
RGD:7240710
Wolfram syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mt-nd1 mitochondrially encoded NADH dehydrogenase 1 JBrowse link MT 2,740 3,694 RGD:5490247
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 14 78,640,707 78,665,224 RGD:1599813
RGD:11554173
RGD:8554872
RGD:7240710
Wolfram syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 14 78,640,707 78,665,224 RGD:8554872
Wolfram syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cisd2 CDGSH iron sulfur domain 2 JBrowse link 2 240,586,754 240,611,560 RGD:10045601
RGD:11554173
RGD:8554872
RGD:7240710
RGD:10045603
G Slc9b1 solute carrier family 9 member B1 JBrowse link 2 240,527,120 240,581,616 RGD:8554872
XFE progeroid syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit JBrowse link 10 2,010,140 2,037,953 RGD:7240710
RGD:8554872
Yunis-Varon syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fig4 FIG4 phosphoinositide 5-phosphatase JBrowse link 20 45,922,806 46,044,754 RGD:8554872
RGD:7240710
G Vac14 Vac14, PIKFYVE complex component JBrowse link 19 40,927,007 41,029,206 RGD:8554872
Zollinger-Ellison syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alb albumin JBrowse link 14 19,176,275 19,191,793 RGD:2325683
G Egf epidermal growth factor JBrowse link 2 68,820,616 68,895,537 RGD:2317668
G Igf1r insulin-like growth factor 1 receptor JBrowse link 1 128,924,921 129,213,816 RGD:7242847

Term paths to the root
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  disease 8926
    syndrome 219
      3MC syndrome + 4
      ARC syndrome 3
      Aagenaes syndrome 0
      Achard syndrome 0
      Adams-Oliver syndrome 5
      Adie syndrome 0
      Aicardi syndrome 0
      Baraitser-Winter syndrome 0
      Barber-Say syndrome 1
      Barre-Lieou syndrome 0
      Beckwith-Wiedemann syndrome 3
      Beemer-Langer syndrome 0
      Bruck syndrome 1
      CHARGE syndrome 3
      CREST syndrome 1
      Carey-Fineman-Ziter syndrome 1
      Cauda equina syndrome 0
      Coffin-Siris syndrome 6
      DiGeorge syndrome 7
      Dubowitz syndrome 0
      EAST syndrome 1
      Fanconi-like syndrome 0
      Felty's syndrome 0
      Fuchs' heterochromic uveitis 0
      Gamstorp-Wohlfart syndrome 1
      Goldberg-Shprintzen syndrome 2
      Goldenhar syndrome 1
      Gorham's disease 0
      Hallermann-Streiff syndrome 0
      Holzgreve-Wagner-Rehder Syndrome 0
      IMAGe syndrome 1
      Jensen syndrome 1
      KBG syndrome 1
      Kabuki syndrome 1
      Kleefstra syndrome 3
      Klippel-Trenaunay syndrome 0
      Koolen de Vries syndrome 1
      Lown-Ganong-Levine syndrome 0
      MEDNIK syndrome 1
      Maffucci syndrome 0
      Marshall-Smith syndrome 1
      Miller-Dieker lissencephaly syndrome 0
      Mowat-Wilson syndrome 3
      N syndrome 1
      Noonan syndrome + 24
      Ohdo syndrome + 3
      Ollier disease 1
      PTEN hamartoma tumor syndrome 1
      Perlman syndrome 1
      Perry syndrome 1
      Peters plus syndrome 0
      Pitt-Hopkins syndrome 2
      Qazi Markouizos syndrome 0
      Reye syndrome 0
      Ritscher-Schinzel syndrome + 2
      Robinow syndrome + 4
      SAPHO syndrome 0
      Saldino-Noonan syndrome 1
      Shwachman-Diamond syndrome 2
      Takayasu's arteritis 4
      Tietze's syndrome 1
      VACTERL association 5
      Van Maldergem syndrome 2
      Van der Woude syndrome 2
      Warsaw breakage syndrome 1
      Wissler's syndrome 0
      Wolfram syndrome + 4
      XFE progeroid syndrome 1
      Yunis-Varon syndrome 2
      Zika virus congenital syndrome 0
      Zollinger-Ellison syndrome 3
      ablepharon macrostomia syndrome 1
      acrocallosal syndrome 2
      acrorenal syndrome 0
      anterior spinal artery syndrome 0
      basilar artery insufficiency 0
      branchiootic syndrome 1
      cardiofaciocutaneous syndrome 6
      chondrodysplasia-pseudohermaphroditism syndrome 0
      chronic atrial and intestinal dysrhythmia 1
      chronic fatigue syndrome 5
      cocoon syndrome 1
      diffuse infiltrative lymphocytosis syndrome 0
      endocrine-cerebro-osteodysplasia syndrome 1
      fetal valproate syndrome 0
      fibrogenesis imperfecta ossium 0
      hypotonia-cystinuria syndrome 0
      inclusion body myopathy with Paget disease of bone and frontotemporal dementia 4
      irritable bowel syndrome 10
      lethal congenital contracture syndrome + 4
      mandibulofacial dysostosis with alopecia 1
      median arcuate ligament syndrome 0
      megacystis-microcolon-intestinal hypoperistalsis syndrome 4
      microcephaly and chorioretinopathy 1 1
      microcephaly and chorioretinopathy 2 1
      microcephaly and chorioretinopathy 3 2
      microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 1
      mosaic variegated aneuploidy syndrome 1 2
      mosaic variegated aneuploidy syndrome 2 1
      multicentric reticulohistiocytosis 0
      multiple chemical sensitivity 0
      multiple congenital anomalies-hypotonia-seizures syndrome 1 1
      multiple congenital anomalies-hypotonia-seizures syndrome 2 1
      multiple congenital anomalies-hypotonia-seizures syndrome 3 1
      oculoauricular syndrome 1
      oculodentodigital dysplasia 1
      palindromic rheumatism 0
      persian gulf syndrome 0
      polycystic ovary syndrome 35
      primary hypertrophic osteoarthropathy 1
      prune belly syndrome 1
      psoriatic arthritis 15
      subclavian steal syndrome 0
      sudden infant death syndrome 9
      superior mesenteric artery syndrome 0
      tooth and nail syndrome 1
      ulnar-mammary syndrome 1
      vertebral artery insufficiency 0
      yellow nail syndrome 0
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