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ONTOLOGY REPORT - ANNOTATIONS


Term:bone disease
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Accession:DOID:0080001 term browser browse the term
Definition:Diseases of BONES.
Synonyms:exact_synonym: bone diseases;   skeletal disease
 primary_id: MESH:D001847
 alt_id: RDO:0001469
 xref: ICD10CM:M89.9
For additional species annotation, visit the Alliance of Genome Resources.


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bone disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 JBrowse link 5 127,718,978 127,771,047 RGD:9068941
G BMP2 bone morphogenetic protein 2 JBrowse link 20 6,546,173 6,558,627 RGD:9068941
G CCN2 cellular communication network factor 2 JBrowse link 6 133,836,319 133,839,017 RGD:9068941
G CDKN2A cyclin dependent kinase inhibitor 2A JBrowse link 9 22,420,748 22,447,243 RGD:9068941
G EPHX1 epoxide hydrolase 1 JBrowse link 1 206,272,866 206,307,581 RGD:9068941
G ESR1 estrogen receptor 1 JBrowse link 6 154,200,521 154,635,806 RGD:9068941
G FGF2 fibroblast growth factor 2 JBrowse link 4 126,149,750 126,220,774 RGD:9068941
G JAG1 jagged canonical Notch ligand 1 JBrowse link 20 10,582,094 10,618,383 RGD:9068941
G LTBP3 latent transforming growth factor beta binding protein 3 JBrowse link 11 64,233,504 64,252,797 RGD:9068941
G MMP2 matrix metallopeptidase 2 JBrowse link 16 54,817,228 54,844,279 RGD:9068941
G NPR3 natriuretic peptide receptor 3 JBrowse link 5 82,921,035 83,004,964 RGD:9068941
G PON1 paraoxonase 1 JBrowse link 7 100,841,286 100,867,493 RGD:9068941
G SLC39A13 solute carrier family 39 member 13 JBrowse link 11 47,910,552 47,918,014 RGD:9068941
G TGFBR2 transforming growth factor beta receptor 2 JBrowse link 3 30,854,071 30,941,378 RGD:9068941
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 12 110,754,238 110,786,182 RGD:9068941
3-M syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCDC8 coiled-coil domain containing 8 JBrowse link 19 51,929,302 51,932,355 RGD:9068941
G CUL7 cullin 7 JBrowse link 6 43,924,337 43,941,185 RGD:9068941
G OBSL1 obscurin like cytoskeletal adaptor 1 JBrowse link 2B 225,402,614 225,419,008 RGD:9068941
3MC syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADIPOQ adiponectin, C1Q and collagen domain containing JBrowse link 3 192,341,471 192,354,885 RGD:9068941
G AHSG alpha 2-HS glycoprotein JBrowse link 3 192,111,528 192,119,915 RGD:9068941
G COLEC11 collectin subfamily member 11 JBrowse link 2A 3,529,358 3,578,280 RGD:9068941
G CRYGS crystallin gamma S JBrowse link 3 192,037,607 192,044,687 RGD:9068941
G DNAJB11 DnaJ heat shock protein family (Hsp40) member B11 JBrowse link 3 192,069,326 192,084,943 RGD:9068941
G EIF4A2 eukaryotic translation initiation factor 4A2 JBrowse link 3 192,283,209 192,290,644 RGD:9068941
G FETUB fetuin B JBrowse link 3 192,142,595 192,155,297 RGD:9068941
G HRG histidine rich glycoprotein JBrowse link 3 192,168,299 192,180,539 RGD:9068941
G KNG1 kininogen 1 JBrowse link 3 192,219,675 192,245,318 RGD:9068941
G MASP1 mannan binding lectin serine peptidase 1 JBrowse link 3 192,707,784 192,782,196 RGD:7240710
RGD:9068941
G RFC4 replication factor C subunit 4 JBrowse link 3 192,290,639 192,307,478 RGD:9068941
G RPL39L ribosomal protein L39 like JBrowse link 3 192,612,140 192,630,507 RGD:9068941
G RTP1 receptor transporter protein 1 JBrowse link 3 192,687,985 192,691,979 RGD:9068941
G ST6GAL1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 JBrowse link 3 192,421,036 192,569,970 RGD:9068941
G TBCCD1 TBCC domain containing 1 JBrowse link 3 192,045,208 192,069,701 RGD:9068941
Aarskog syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGD1 FYVE, RhoGEF and PH domain containing 1 JBrowse link X 54,880,751 54,930,672 RGD:7240710
RGD:9068941
G TSR2 TSR2 ribosome maturation factor JBrowse link X 54,875,679 54,883,324 RGD:9068941
acheiropody term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LMBR1 limb development membrane protein 1 JBrowse link 7 159,995,236 160,151,025 RGD:7240710
RGD:9068941
achondrogenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC26A2 solute carrier family 26 member 2 JBrowse link 5 151,391,842 151,418,249 RGD:9068941
G TRIP11 thyroid hormone receptor interactor 11 JBrowse link 14 91,945,392 92,019,231 RGD:9068941
achondrogenesis type IA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TRIP11 thyroid hormone receptor interactor 11 JBrowse link 14 91,945,392 92,019,231 RGD:7240710
RGD:9068941
achondrogenesis type IB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC26A2 solute carrier family 26 member 2 JBrowse link 5 151,391,842 151,418,249 RGD:7240710
RGD:9068941
achondrogenesis type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL2A1 collagen type II alpha 1 chain JBrowse link 12 41,600,206 41,631,789 RGD:7240710
RGD:9068941
achondroplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACAN aggrecan JBrowse link 15 86,733,853 86,771,420 RGD:9068941
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 4 1,843,780 1,858,635 RGD:7240710
RGD:9068941
G NPR2 natriuretic peptide receptor 2 JBrowse link 9 36,445,576 36,462,637 RGD:9068941
G PTHLH parathyroid hormone like hormone JBrowse link 12 60,959,327 60,973,749 RGD:9068941
G SPRED2 sprouty related EVH1 domain containing 2 JBrowse link 2A 66,503,260 66,624,840 RGD:9068941
Acro-Osteolysis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SMAD4 SMAD family member 4 JBrowse link 18 47,692,311 47,802,530 RGD:9068941
G ZMPSTE24 zinc metallopeptidase STE24 JBrowse link 1 40,869,076 40,912,747 RGD:9068941
acrocapitofemoral dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IHH Indian hedgehog signaling molecule JBrowse link 2B 224,905,488 224,917,887 RGD:7240710
RGD:9068941
acrocephalosyndactylia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGFR1 fibroblast growth factor receptor 1 JBrowse link 8 34,890,147 34,948,904 RGD:9068941
G FGFR2 fibroblast growth factor receptor 2 JBrowse link 10 121,469,735 121,588,815 RGD:7240710
RGD:9068941
G TWIST1 twist family bHLH transcription factor 1 JBrowse link 7 19,086,842 19,088,398 RGD:9068941
acrodysostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FAM20A FAM20A golgi associated secretory pathway pseudokinase JBrowse link 17 67,863,696 67,927,152 RGD:9068941
G PDE4D phosphodiesterase 4D JBrowse link 5 55,749,248 56,675,724 RGD:9068941
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha JBrowse link 17 67,838,484 67,859,610 RGD:9068941
Acrodysostosis 1, with or without Hormone Resistance term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FAM20A FAM20A golgi associated secretory pathway pseudokinase JBrowse link 17 67,863,696 67,927,152 RGD:9068941
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha JBrowse link 17 67,838,484 67,859,610 RGD:7240710
RGD:9068941
Acrodysostosis 2, with or without Hormone Resistance term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DEPDC1B DEP domain containing 1B JBrowse link 5 54,940,401 55,046,660 RGD:9068941
G PDE4D phosphodiesterase 4D JBrowse link 5 55,749,248 56,675,724 RGD:7240710
RGD:9068941
acrofacial dysostosis Cincinnati type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POLR1A RNA polymerase I subunit A JBrowse link 2A 87,618,880 87,705,352 RGD:7240710
RGD:9068941
acromegaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GNAS GNAS complex locus JBrowse link 20 56,460,906 56,620,313 RGD:9068941
G IGF1 insulin like growth factor 1 JBrowse link 12 103,385,911 103,463,264 RGD:9068941
G LOC100971425 somatotropin JBrowse link 17 63,103,339 63,105,719 RGD:9068941
acromelic frontonasal dysostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ZSWIM6 zinc finger SWIM-type containing 6 JBrowse link 5 54,095,105 54,169,700 RGD:7240710
RGD:9068941
acromesomelic dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GDF5 growth differentiation factor 5 JBrowse link 20 32,882,094 32,903,044 RGD:9068941
G NPR2 natriuretic peptide receptor 2 JBrowse link 9 36,445,576 36,462,637 RGD:9068941
G SPAG8 sperm associated antigen 8 JBrowse link 9 36,460,951 36,465,112 RGD:9068941
Acromesomelic Dysplasia, Demirhan Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BMPR1B bone morphogenetic protein receptor type 1B JBrowse link 4 97,912,541 98,194,890 RGD:7240710
RGD:9068941
acromesomelic dysplasia, Grebe type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GDF5 growth differentiation factor 5 JBrowse link 20 32,882,094 32,903,044 RGD:7240710
RGD:9068941
acromesomelic dysplasia, Hunter-Thompson type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BMPR1B bone morphogenetic protein receptor type 1B JBrowse link 4 97,912,541 98,194,890 RGD:9068941
G GDF5 growth differentiation factor 5 JBrowse link 20 32,882,094 32,903,044 RGD:7240710
RGD:9068941
acromesomelic dysplasia, Maroteaux type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NPR2 natriuretic peptide receptor 2 JBrowse link 9 36,445,576 36,462,637 RGD:7240710
RGD:9068941
G SPAG8 sperm associated antigen 8 JBrowse link 9 36,460,951 36,465,112 RGD:9068941
acromicric dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAMTSL2 ADAMTS like 2 JBrowse link 9 133,269,369 133,309,602 RGD:9068941
G FBN1 fibrillin 1 JBrowse link 15 45,680,688 45,918,111 RGD:7240710
RGD:9068941
G SMAD2 SMAD family member 2 JBrowse link 18 44,572,213 44,669,008 RGD:9068941
G TGFB1 transforming growth factor beta 1 JBrowse link 19 46,831,659 46,852,973 RGD:9068941
adult-onset Still's disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HGF hepatocyte growth factor JBrowse link 7 87,325,741 87,396,850 RGD:9068941
G VEGFA vascular endothelial growth factor A JBrowse link 6 44,651,855 44,666,353 RGD:9068941
Alazami Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LARP7 La ribonucleoprotein 7, transcriptional regulator JBrowse link 4 115,690,359 115,711,263 RGD:7240710
RGD:9068941
Albright's hereditary osteodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GNAS GNAS complex locus JBrowse link 20 56,460,906 56,620,313 RGD:7240710
RGD:9068941
G PTHLH parathyroid hormone like hormone JBrowse link 12 60,959,327 60,973,749 RGD:9068941
Alveolar Bone Loss term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALPL alkaline phosphatase, biomineralization associated JBrowse link 1 21,667,732 21,736,688 RGD:9068941
G CCR2 C-C motif chemokine receptor 2 JBrowse link 3 47,361,118 47,368,312 RGD:9068941
G IL10 interleukin 10 JBrowse link 1 186,648,289 186,653,155 RGD:9068941
G PARP1 poly(ADP-ribose) polymerase 1 JBrowse link 1 206,812,981 206,860,356 RGD:9068941
G TNF tumor necrosis factor JBrowse link 6 32,126,618 32,129,389 RGD:9068941
G TNFSF11 TNF superfamily member 11 RGD:9068941
Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LBR lamin B receptor JBrowse link 1 205,870,394 205,893,032 RGD:9068941
anauxetic dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ARHGEF39 Rho guanine nucleotide exchange factor 39 JBrowse link 9 36,313,296 36,319,732 RGD:9068941
G C9H9orf131 chromosome 9 C9orf131 homolog JBrowse link 9 35,698,610 35,702,395 RGD:9068941
G CA9 carbonic anhydrase 9 JBrowse link 9 36,328,205 36,335,474 RGD:9068941
G CCDC107 coiled-coil domain containing 107 JBrowse link 9 36,312,688 36,315,926 RGD:9068941
G CCIN calicin JBrowse link 9 36,815,577 36,822,204 RGD:9068941
G CCL19 C-C motif chemokine ligand 19 JBrowse link 9 35,334,353 35,336,108 RGD:9068941
G CCL21 C-C motif chemokine ligand 21 JBrowse link 9 35,353,768 35,354,924 RGD:9068941
G CCL27 C-C motif chemokine ligand 27 JBrowse link 9 35,307,155 35,308,381 RGD:9068941
G CD72 CD72 molecule JBrowse link 9 36,264,494 36,272,952 RGD:9068941
G CLTA clathrin light chain A JBrowse link 9 36,841,477 36,862,528 RGD:9068941
G CREB3 cAMP responsive element binding protein 3 JBrowse link 9 36,385,867 36,390,540 RGD:9068941
G DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 JBrowse link 9 35,643,056 35,651,879 RGD:9068941
G FAM166B family with sequence similarity 166 member B JBrowse link 9 36,216,030 36,247,009 RGD:9068941
G FAM205A family with sequence similarity 205 member A JBrowse link 9 35,367,419 35,373,899 RGD:9068941
G FAM205C family with sequence similarity 205 member C JBrowse link 9 35,545,038 35,551,746 RGD:9068941
G FAM214B family with sequence similarity 214 member B JBrowse link 9 35,760,019 35,772,033 RGD:9068941
G FAM221B family with sequence similarity 221 member B JBrowse link 9 36,471,284 36,481,503 RGD:9068941
G FANCG FA complementation group G JBrowse link 9 35,730,176 35,736,648 RGD:9068941
G GALT galactose-1-phosphate uridylyltransferase JBrowse link 9 35,291,695 35,295,835 RGD:9068941
G GBA2 glucosylceramidase beta 2 JBrowse link 9 36,390,407 36,402,949 RGD:9068941
G GLIPR2 GLI pathogenesis related 2 JBrowse link 9 36,787,649 36,814,812 RGD:9068941
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase JBrowse link 9 36,867,094 36,908,212 RGD:9068941
G HINT2 histidine triad nucleotide binding protein 2 JBrowse link 9 36,465,806 36,468,325 RGD:9068941
G HRCT1 histidine rich carboxyl terminus 1 JBrowse link 9 36,558,786 36,559,868 RGD:9068941
G IL11RA interleukin 11 receptor subunit alpha JBrowse link 9 35,297,316 35,307,159 RGD:9068941
G LOC100981170 olfactory receptor 13J1 JBrowse link 9 36,522,294 36,523,368 RGD:9068941
G MSMP microseminoprotein, prostate associated JBrowse link 9 36,406,679 36,407,845 RGD:9068941
G NPR2 natriuretic peptide receptor 2 JBrowse link 9 36,445,576 36,462,637 RGD:9068941
G PHF24 PHD finger protein 24 JBrowse link 9 35,310,959 35,635,964 RGD:9068941
G PIGO phosphatidylinositol glycan anchor biosynthesis class O JBrowse link 9 35,744,664 35,752,522 RGD:9068941
G POP1 POP1 homolog, ribonuclease P/MRP subunit JBrowse link 8 96,938,574 96,980,896 RGD:9068941
G RECK reversion inducing cysteine rich protein with kazal motifs JBrowse link 9 36,703,607 36,775,516 RGD:9068941
G RGP1 RGP1 homolog, RAB6A GEF complex partner 1 JBrowse link 9 36,402,999 36,411,625 RGD:9068941
G RUSC2 RUN and SH3 domain containing 2 JBrowse link 9 36,175,130 36,216,093 RGD:9068941
G SIT1 signaling threshold regulating transmembrane adaptor 1 JBrowse link 9 36,303,675 36,305,328 RGD:9068941
G SPAAR small regulatory polypeptide of amino acid response JBrowse link 9 36,561,412 36,564,351 RGD:9068941
G SPAG8 sperm associated antigen 8 JBrowse link 9 36,460,951 36,465,112 RGD:9068941
G STOML2 stomatin like 2 JBrowse link 9 35,755,790 35,759,091 RGD:9068941
G TESK1 testis associated actin remodelling kinase 1 JBrowse link 9 36,260,165 36,264,545 RGD:9068941
G TLN1 talin 1 JBrowse link 9 36,351,836 36,379,228 RGD:9068941
G TMEM8B transmembrane protein 8B JBrowse link 9 36,478,735 36,507,303 RGD:9068941
G TPM2 tropomyosin 2 JBrowse link 9 36,336,307 36,345,394 RGD:9068941
G UNC13B unc-13 homolog B JBrowse link 9 35,817,353 36,059,895 RGD:9068941
G VCP valosin containing protein JBrowse link 9 35,712,937 35,729,588 RGD:9068941
Anauxetic Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POP1 POP1 homolog, ribonuclease P/MRP subunit JBrowse link 8 96,938,574 96,980,896 RGD:9068941
RGD:7240710
Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6PD glucose-6-phosphate dehydrogenase JBrowse link X 153,843,092 153,860,675 RGD:9068941
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 153,869,352 153,876,677 RGD:7240710
RGD:9068941
ankylosing spondylitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADIPOQ adiponectin, C1Q and collagen domain containing JBrowse link 3 192,341,471 192,354,885 RGD:9068941
G ANO6 anoctamin 6 JBrowse link 12 44,164,375 44,380,261 RGD:9068941
G ANTXR2 ANTXR cell adhesion molecule 2 JBrowse link 4 49,972,472 50,132,740 RGD:9068941
G ASPN asporin JBrowse link 9 91,651,621 91,677,969 RGD:9068941
G CARD9 caspase recruitment domain family member 9 JBrowse link 9 136,416,279 136,426,048 RGD:9068941
G CRP C-reactive protein JBrowse link 1 138,858,353 138,860,652 RGD:9068941
G ERAP1 endoplasmic reticulum aminopeptidase 1 JBrowse link 5 97,625,811 97,799,499 RGD:9068941
G IGFBP3 insulin like growth factor binding protein 3 JBrowse link 7 46,681,856 46,690,240 RGD:9068941
G IL12B interleukin 12B JBrowse link 5 161,323,402 161,339,051 RGD:9068941
G IL17A interleukin 17A JBrowse link 6 53,004,820 53,009,074 RGD:9068941
G IL1R2 interleukin 1 receptor type 2 JBrowse link 2A 103,015,318 103,078,308 RGD:9068941
G IL23R interleukin 23 receptor JBrowse link 1 68,293,514 68,386,815 RGD:9068941
G IL6 interleukin 6 JBrowse link 7 23,027,560 23,032,419 RGD:9068941
G IRAK1 interleukin 1 receptor associated kinase 1 JBrowse link X 153,446,827 153,458,189 RGD:9068941
G JAK2 Janus kinase 2 JBrowse link 9 5,006,271 5,156,626 RGD:9068941
G KDM5A lysine demethylase 5A JBrowse link 12 307,816 424,135 RGD:9068941
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain JBrowse link 6 33,353,599 33,360,284 RGD:9068941
G LOC100976184 cytochrome P450 1A1 JBrowse link 15 73,284,566 73,290,636 RGD:9068941
G PGF placental growth factor JBrowse link 14 74,338,976 74,352,964 RGD:9068941
G PSMB9 proteasome 20S subunit beta 9 JBrowse link 6 33,539,060 33,544,541 RGD:9068941
G PTGER4 prostaglandin E receptor 4 JBrowse link 5 74,731,470 74,745,121 RGD:9068941
G RUNX3 RUNX family transcription factor 3 JBrowse link 1 25,073,135 25,137,343 RGD:9068941
G TAP1 transporter 1, ATP binding cassette subfamily B member JBrowse link 6 33,530,170 33,538,978 RGD:9068941
G TAP2 transporter 2, ATP binding cassette subfamily B member JBrowse link 6 33,513,321 33,523,780 RGD:9068941
G TBKBP1 TBK1 binding protein 1 JBrowse link 17 10,006,903 10,023,857 RGD:9068941
G THBD thrombomodulin JBrowse link 20 23,343,758 23,347,966 RGD:9068941
G TLR4 toll like receptor 4 JBrowse link 9 117,180,250 117,193,510 RGD:9068941
G TLR5 toll like receptor 5 JBrowse link 1 203,797,720 203,831,605 RGD:9068941
G TNFRSF1B TNF receptor superfamily member 1B JBrowse link 1 12,130,663 12,172,646 RGD:9068941
G VIP vasoactive intestinal peptide JBrowse link 6 155,236,848 155,263,730 RGD:9068941
ankylosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGFR2 fibroblast growth factor receptor 2 JBrowse link 10 121,469,735 121,588,815 RGD:9068941
Antley-Bixler syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGFR2 fibroblast growth factor receptor 2 JBrowse link 10 121,469,735 121,588,815 RGD:9068941
G LOC100990437 NADPH--cytochrome P450 reductase JBrowse link 7 82,364,311 82,437,530 RGD:7240710
RGD:9068941
Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100990437 NADPH--cytochrome P450 reductase JBrowse link 7 82,364,311 82,437,530 RGD:7240710
RGD:9068941
G TMEM120A transmembrane protein 120A JBrowse link 7 82,437,650 82,444,882 RGD:9068941
ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGFR2 fibroblast growth factor receptor 2 JBrowse link 10 121,469,735 121,588,815 RGD:7240710
RGD:9068941
G LOC100990437 NADPH--cytochrome P450 reductase JBrowse link 7 82,364,311 82,437,530 RGD:9068941
arthritis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANKH ANKH inorganic pyrophosphate transport regulator JBrowse link 5 14,849,497 15,015,206 RGD:9068941
G B2M beta-2-microglobulin JBrowse link 15 41,836,321 41,842,991 RGD:9068941
G CD40 CD40 molecule JBrowse link 20 43,541,619 43,552,994 RGD:9068941
G CD69 CD69 molecule JBrowse link 12 10,049,668 10,058,094 RGD:9068941
G CNR2 cannabinoid receptor 2 JBrowse link 1 24,046,009 24,135,236 RGD:9068941
G COL2A1 collagen type II alpha 1 chain JBrowse link 12 41,600,206 41,631,789 RGD:9068941
G COPA COPI coat complex subunit alpha JBrowse link 1 139,564,074 139,618,520 RGD:9068941
G GC GC vitamin D binding protein JBrowse link 4 58,749,384 58,792,073 RGD:9068941
G IL23R interleukin 23 receptor JBrowse link 1 68,293,514 68,386,815 RGD:9068941
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain JBrowse link 6 33,353,599 33,360,284 RGD:9068941
G PARP1 poly(ADP-ribose) polymerase 1 JBrowse link 1 206,812,981 206,860,356 RGD:9068941
G SELE selectin E JBrowse link 1 148,927,333 148,938,781 RGD:9068941
G TLR4 toll like receptor 4 JBrowse link 9 117,180,250 117,193,510 RGD:9068941
G ZFP36 ZFP36 ring finger protein JBrowse link 19 45,052,797 45,055,390 RGD:9068941
Arthritis, Gouty term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial JBrowse link 1 153,045,886 153,080,461 RGD:9068941
G MMP2 matrix metallopeptidase 2 JBrowse link 16 54,817,228 54,844,279 RGD:9068941
G MMP3 matrix metallopeptidase 3 JBrowse link 11 101,267,561 101,275,432 RGD:9068941
G MMP9 matrix metallopeptidase 9 JBrowse link 20 43,432,389 43,440,129 RGD:9068941
G POMC proopiomelanocortin JBrowse link 2A 25,258,768 25,266,806 RGD:9068941
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PPP3CA protein phosphatase 3 catalytic subunit alpha JBrowse link 4 104,113,512 104,435,954 RGD:9068941
RGD:7240710
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NEK9 NIMA related kinase 9 JBrowse link 14 74,478,387 74,522,320 RGD:9068941
RGD:7240710
asphyxiating thoracic dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B9D1 B9 domain containing 1 JBrowse link 17 36,914,964 36,943,949 RGD:9068941
G C2CD3 C2 domain containing 3 centriole elongation regulator JBrowse link 11 72,392,606 72,551,620 RGD:9068941
G CEP120 centrosomal protein 120 JBrowse link 5 124,514,996 124,593,259 RGD:9068941
G CILK1 ciliogenesis associated kinase 1 JBrowse link 6 54,198,594 54,255,449 RGD:9068941
G COL2A1 collagen type II alpha 1 chain JBrowse link 12 41,600,206 41,631,789 RGD:9068941
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 11 101,536,471 101,909,194 RGD:9068941
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 JBrowse link 2A 44,706,777 44,760,757 RGD:9068941
G EVC EvC ciliary complex subunit 1 JBrowse link 4 5,790,437 5,892,283 RGD:9068941
G EVC2 EvC ciliary complex subunit 2 JBrowse link 4 5,635,151 5,782,657 RGD:9068941
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 4 1,843,780 1,858,635 RGD:9068941
G FLVCR1 FLVCR heme transporter 1 JBrowse link 1 193,284,158 193,321,962 RGD:9068941
G FUZ fuzzy planar cell polarity protein JBrowse link 19 55,736,325 55,742,589 RGD:9068941
G IFT140 intraflagellar transport 140 JBrowse link 16 1,566,309 1,662,833 RGD:9068941
G IFT172 intraflagellar transport 172 JBrowse link 2A 27,536,534 27,580,406 RGD:9068941
G IFT43 intraflagellar transport 43 JBrowse link 14 75,387,742 75,485,904 RGD:9068941
G IFT52 intraflagellar transport 52 JBrowse link 20 41,023,517 41,080,500 RGD:9068941
G IFT74 intraflagellar transport 74 JBrowse link 9 27,409,962 27,514,756 RGD:9068941
G IFT80 intraflagellar transport 80 JBrowse link 3 165,327,511 165,469,795 RGD:9068941
G IFT81 intraflagellar transport 81 JBrowse link 12 111,093,661 111,186,786 RGD:9068941
G IFT88 intraflagellar transport 88 JBrowse link 13 20,205,881 20,331,204 RGD:9068941
G INTU inturned planar cell polarity protein JBrowse link 4 131,109,630 131,186,930 RGD:9068941
G KIAA0586 KIAA0586 ortholog JBrowse link 14 57,287,138 57,405,914 RGD:9068941
G KIAA0753 KIAA0753 ortholog JBrowse link 17 6,603,983 6,666,231 RGD:9068941
G LBR lamin B receptor JBrowse link 1 205,870,394 205,893,032 RGD:9068941
G MATN3 matrilin 3 JBrowse link 2A 20,095,710 20,116,015 RGD:9068941
G NEK1 NIMA related kinase 1 JBrowse link 4 173,690,074 173,902,100 RGD:9068941
G SLTM SAFB like transcription modulator JBrowse link 15 56,157,515 56,211,801 RGD:9068941
G SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 JBrowse link 4 97,240,372 97,324,366 RGD:9068941
G TCTEX1D2 Tctex1 domain containing 2 JBrowse link 3 203,580,040 203,607,193 RGD:9068941
G TRAF3IP1 TRAF3 interacting protein 1 JBrowse link 2B 244,404,777 244,481,785 RGD:9068941
G TTC21B tetratricopeptide repeat domain 21B JBrowse link 2B 170,618,800 170,698,903 RGD:9068941
G WDR19 WD repeat domain 19 JBrowse link 4 39,365,204 39,470,074 RGD:9068941
G WDR34 WD repeat domain 34 JBrowse link 9 128,422,958 128,447,444 RGD:9068941
G WDR35 WD repeat domain 35 JBrowse link 2A 20,014,127 20,093,794 RGD:9068941
G WDR60 WD repeat domain 60 JBrowse link 7 162,142,751 162,219,783 RGD:9068941
asphyxiating thoracic dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCG5 ATP binding cassette subfamily G member 5 JBrowse link 2A 44,745,183 44,771,012 RGD:9068941
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 JBrowse link 2A 44,706,777 44,760,757 RGD:9068941
G IFT140 intraflagellar transport 140 JBrowse link 16 1,566,309 1,662,833 RGD:9068941
G NEK1 NIMA related kinase 1 JBrowse link 4 173,690,074 173,902,100 RGD:9068941
G TTC21B tetratricopeptide repeat domain 21B JBrowse link 2B 170,618,800 170,698,903 RGD:9068941
asphyxiating thoracic dystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IFT80 intraflagellar transport 80 JBrowse link 3 165,327,511 165,469,795 RGD:7240710
RGD:9068941
asphyxiating thoracic dystrophy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 11 101,536,471 101,909,194 RGD:7240710
RGD:9068941
G FAM98C family with sequence similarity 98 member C JBrowse link 19 44,068,957 44,074,586 RGD:9068941
G IFT80 intraflagellar transport 80 JBrowse link 3 165,327,511 165,469,795 RGD:9068941
G NEK1 NIMA related kinase 1 JBrowse link 4 173,690,074 173,902,100 RGD:9068941
G TCTEX1D2 Tctex1 domain containing 2 JBrowse link 3 203,580,040 203,607,193 RGD:9068941
G TMEM256 transmembrane protein 256 JBrowse link 17 7,423,648 7,424,799 RGD:9068941
G WDR34 WD repeat domain 34 JBrowse link 9 128,422,958 128,447,444 RGD:9068941
G WDR60 WD repeat domain 60 JBrowse link 7 162,142,751 162,219,783 RGD:9068941
asphyxiating thoracic dystrophy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TTC21B tetratricopeptide repeat domain 21B JBrowse link 2B 170,618,800 170,698,903 RGD:7240710
RGD:9068941
asphyxiating thoracic dystrophy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G WDR19 WD repeat domain 19 JBrowse link 4 39,365,204 39,470,074 RGD:7240710
RGD:9068941
atelosteogenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FLNB filamin B JBrowse link 3 59,359,234 59,521,989 RGD:9068941
G SLC26A2 solute carrier family 26 member 2 JBrowse link 5 151,391,842 151,418,249 RGD:9068941
Atelosteogenesis Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FLNB filamin B JBrowse link 3 59,359,234 59,521,989 RGD:7240710
RGD:9068941
Atelosteogenesis Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC26A2 solute carrier family 26 member 2 JBrowse link 5 151,391,842 151,418,249 RGD:7240710
RGD:9068941
Atelosteogenesis Type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FLNB filamin B JBrowse link 3 59,359,234 59,521,989 RGD:7240710
RGD:9068941
Au-Kline Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HNRNPK heterogeneous nuclear ribonucleoprotein K JBrowse link 9 83,324,235 83,336,884 RGD:7240710
RGD:9068941
AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COPA COPI coat complex subunit alpha JBrowse link 1 139,564,074 139,618,520 RGD:7240710
RGD:9068941
AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NLRP1 NLR family pyrin domain containing 1 JBrowse link 17 5,541,559 5,623,659 RGD:9068941
RGD:7240710
Autosomal Dominant Craniometaphyseal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANKH ANKH inorganic pyrophosphate transport regulator JBrowse link 5 14,849,497 15,015,206 RGD:7240710
RGD:9068941
G OTULIN OTU deubiquitinase with linear linkage specificity JBrowse link 5 14,810,187 14,857,597 RGD:9068941
autosomal dominant endosteal hyperostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LRP5 LDL receptor related protein 5 JBrowse link 11 66,794,645 66,840,019 RGD:7240710
RGD:9068941
autosomal dominant hypophosphatemic rickets term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGF23 fibroblast growth factor 23 JBrowse link 12 4,400,802 4,412,000 RGD:7240710
RGD:9068941
autosomal dominant osteopetrosis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LRP5 LDL receptor related protein 5 JBrowse link 11 66,794,645 66,840,019 RGD:7240710
RGD:9068941
autosomal dominant osteopetrosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CLCN7 chloride voltage-gated channel 7 JBrowse link 16 1,498,432 1,518,783 RGD:7240710
RGD:9068941
Autosomal Dominant Osteopetrosis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PLEKHM1 pleckstrin homology and RUN domain containing M1 JBrowse link 17 12,011,518 12,063,912 RGD:9068941
RGD:7240710
autosomal dominant Robinow syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DVL1 dishevelled segment polarity protein 1 JBrowse link 1 1,292,052 1,300,006 RGD:9068941
G DVL3 dishevelled segment polarity protein 3 JBrowse link 3 189,674,405 189,691,749 RGD:9068941
G ROR2 receptor tyrosine kinase like orphan receptor 2 JBrowse link 9 90,879,826 90,939,834 RGD:9068941
G WNT5A Wnt family member 5A JBrowse link 3 56,617,006 56,639,367 RGD:7240710
RGD:9068941
autosomal dominant Robinow syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DVL1 dishevelled segment polarity protein 1 JBrowse link 1 1,292,052 1,300,006 RGD:7240710
RGD:9068941
G DVL3 dishevelled segment polarity protein 3 JBrowse link 3 189,674,405 189,691,749 RGD:9068941
G FZD2 frizzled class receptor 2 JBrowse link 17 13,007,752 13,013,346 RGD:9068941
autosomal dominant Robinow syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DVL3 dishevelled segment polarity protein 3 JBrowse link 3 189,674,405 189,691,749 RGD:9068941
RGD:7240710
G FZD2 frizzled class receptor 2 JBrowse link 17 13,007,752 13,013,346 RGD:9068941
autosomal recessive chronic granulomatous disease cytochrome b-negative term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100986914 cytochrome b-245 light chain JBrowse link 16 89,016,349 89,024,719 RGD:7240710
RGD:9068941
G MVD mevalonate diphosphate decarboxylase JBrowse link 16 89,025,571 89,036,975 RGD:9068941
autosomal recessive chronic granulomatous disease cytochrome b-positive type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NCF1 neutrophil cytosolic factor 1 JBrowse link 7 81,917,167 81,932,589 RGD:7240710
RGD:9068941
autosomal recessive chronic granulomatous disease cytochrome b-positive type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NCF2 neutrophil cytosolic factor 2 JBrowse link 1 163,243,636 163,280,547 RGD:7240710
RGD:9068941
autosomal recessive chronic granulomatous disease cytochrome b-positive type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NCF1 neutrophil cytosolic factor 1 JBrowse link 7 81,917,167 81,932,589 RGD:9068941
G NCF4 neutrophil cytosolic factor 4 JBrowse link 22 35,611,589 35,631,400 RGD:7240710
RGD:9068941
Autosomal Recessive Craniometaphyseal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GJA1 gap junction protein alpha 1 JBrowse link 6 123,348,744 123,360,887 RGD:7240710
RGD:9068941
autosomal recessive hypophosphatemic rickets term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DMP1 dentin matrix acidic phosphoprotein 1 JBrowse link 4 90,669,649 90,683,347 RGD:9068941
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 JBrowse link 6 133,698,904 133,783,644 RGD:9068941
autosomal recessive osteopetrosis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCDC154 coiled-coil domain containing 154 JBrowse link 16 1,488,751 1,498,392 RGD:9068941
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 JBrowse link 11 66,429,435 66,441,327 RGD:7240710
RGD:9068941
autosomal recessive osteopetrosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TNFSF11 TNF superfamily member 11 RGD:7240710
RGD:9068941
autosomal recessive osteopetrosis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CA2 carbonic anhydrase 2 JBrowse link 8 83,601,163 83,618,327 RGD:7240710
RGD:9068941
autosomal recessive osteopetrosis 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CLCN7 chloride voltage-gated channel 7 JBrowse link 16 1,498,432 1,518,783 RGD:7240710
RGD:9068941
autosomal recessive osteopetrosis 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OSTM1 osteoclastogenesis associated transmembrane protein 1 JBrowse link 6 109,705,522 109,738,691 RGD:7240710
RGD:9068941
autosomal recessive osteopetrosis 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PLEKHM1 pleckstrin homology and RUN domain containing M1 JBrowse link 17 12,011,518 12,063,912 RGD:7240710
RGD:9068941
autosomal recessive osteopetrosis 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TNFRSF11A TNF receptor superfamily member 11a JBrowse link 18 59,032,727 59,075,044 RGD:7240710
RGD:9068941
autosomal recessive osteopetrosis 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SNX10 sorting nexin 10 JBrowse link 7 26,537,519 26,618,862 RGD:7240710
RGD:9068941
autosomal recessive Robinow syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PRICKLE1 prickle planar cell polarity protein 1 JBrowse link 12 47,100,352 47,126,116 RGD:9068941
G ROR2 receptor tyrosine kinase like orphan receptor 2 JBrowse link 9 90,879,826 90,939,834 RGD:7240710
RGD:9068941
Autosomal Recessive Robinow Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NXN nucleoredoxin JBrowse link 17 690,089 720,659 RGD:7240710
RGD:9068941
Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FBLN1 fibulin 1 JBrowse link 22 44,583,632 44,666,696 RGD:9068941
Baller-Gerold syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RECQL4 RecQ like helicase 4 JBrowse link 8 144,266,954 144,272,945 RGD:7240710
RGD:9068941
Basel-Vanagaite-Smirin-Yosef syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MED25 mediator complex subunit 25 JBrowse link 19 55,747,445 55,765,978 RGD:7240710
RGD:9068941
Beare-Stevenson cutis gyrata syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGFR2 fibroblast growth factor receptor 2 JBrowse link 10 121,469,735 121,588,815 RGD:7240710
RGD:9068941
Beemer-Langer syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 11 101,536,471 101,909,194 RGD:9068941
G EVC2 EvC ciliary complex subunit 2 JBrowse link 4 5,635,151 5,782,657 RGD:9068941
G IFT80 intraflagellar transport 80 JBrowse link 3 165,327,511 165,469,795 RGD:9068941
G NEK1 NIMA related kinase 1 JBrowse link 4 173,690,074 173,902,100 RGD:9068941
G TTC21B tetratricopeptide repeat domain 21B JBrowse link 2B 170,618,800 170,698,903 RGD:9068941
G WDR19 WD repeat domain 19 JBrowse link 4 39,365,204 39,470,074 RGD:9068941
Bent Bone Dysplasia Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGFR2 fibroblast growth factor receptor 2 JBrowse link 10 121,469,735 121,588,815 RGD:7240710
RGD:9068941
Beukes hip dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C4H4orf47 chromosome 4 C4orf47 homolog JBrowse link 4 189,805,849 189,828,919 RGD:9068941
G UFSP2 UFM1 specific peptidase 2 JBrowse link 4 189,779,242 189,805,572 RGD:7240710
RGD:9068941
Bisphosphonate-Associated Osteonecrosis of the Jaw term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL1A1 collagen type I alpha 1 chain JBrowse link 17 49,149,277 49,166,833 RGD:9068941
Blau syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NOD2 nucleotide binding oligomerization domain containing 2 JBrowse link 16 49,834,385 49,873,783 RGD:7240710
RGD:9068941
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 10 74,230,684 74,252,072 RGD:9068941
G KAT6B lysine acetyltransferase 6B JBrowse link 10 74,020,143 74,225,546 RGD:7240710
RGD:9068941
Bohring Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ASXL1 ASXL transcriptional regulator 1 JBrowse link 20 29,773,836 29,852,433 RGD:7240710
RGD:9068941
G KLHL7 kelch like family member 7 JBrowse link 7 23,399,130 23,467,919 RGD:9068941
bone development disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase JBrowse link 9 130,482,852 130,652,941 RGD:9068941
G AFF4 AF4/FMR2 family member 4 JBrowse link 5 134,451,740 134,532,517 RGD:9068941
G ALPL alkaline phosphatase, biomineralization associated JBrowse link 1 21,667,732 21,736,688 RGD:9068941
G ANK1 ankyrin 1 JBrowse link 8 38,346,503 38,588,620 RGD:9068941
G BMPR1A bone morphogenetic protein receptor type 1A JBrowse link 10 86,742,248 86,912,912 RGD:9068941
G BMPR1B bone morphogenetic protein receptor type 1B JBrowse link 4 97,912,541 98,194,890 RGD:9068941
G CHRNG cholinergic receptor nicotinic gamma subunit JBrowse link 2B 238,689,935 238,696,526 RGD:9068941
G CHST3 carbohydrate sulfotransferase 3 JBrowse link 10 70,951,211 71,000,022 RGD:9068941
G CHUK component of inhibitor of nuclear factor kappa B kinase complex JBrowse link 10 100,276,290 100,317,082 RGD:9068941
G COL1A2 collagen type I alpha 2 chain JBrowse link 7 99,935,185 99,971,810 RGD:9068941
G COL2A1 collagen type II alpha 1 chain JBrowse link 12 41,600,206 41,631,789 RGD:9068941
G COL5A1 collagen type V alpha 1 chain JBrowse link 9 134,391,081 134,543,769 RGD:9068941
G COPS7B COP9 signalosome subunit 7B JBrowse link 2B 237,821,398 237,849,340 RGD:9068941
G DIPK2B divergent protein kinase domain 2B JBrowse link X 45,398,721 45,451,156 RGD:9068941
G DIS3L2 DIS3 like 3'-5' exoribonuclease 2 JBrowse link 2B 237,976,038 238,346,098 RGD:9068941
G DLX5 distal-less homeobox 5 JBrowse link 7 102,556,636 102,561,186 RGD:9068941
G DUSP21 dual specificity phosphatase 21 JBrowse link X 45,098,896 45,099,794 RGD:9068941
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 11 101,536,471 101,909,194 RGD:9068941
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 4 1,843,780 1,858,635 RGD:9068941
G FLNB filamin B JBrowse link 3 59,359,234 59,521,989 RGD:9068941
G FUNDC1 FUN14 domain containing 1 JBrowse link X 44,790,550 44,809,318 RGD:9068941
G GLB1 galactosidase beta 1 JBrowse link 3 33,231,208 33,336,804 RGD:9068941
G HOXD11 homeobox D11 JBrowse link 2B 181,095,347 181,098,680 RGD:9068941
G IFT80 intraflagellar transport 80 JBrowse link 3 165,327,511 165,469,795 RGD:9068941
G IGF2 insulin like growth factor 2 JBrowse link 11 2,202,764 2,228,890 RGD:9068941
G ITGB1BP1 integrin subunit beta 1 binding protein 1 JBrowse link 2A 9,559,416 9,576,899 RGD:9068941
G KDM6A lysine demethylase 6A JBrowse link X 45,127,382 45,362,029 RGD:9068941
G KIF3A kinesin family member 3A JBrowse link 5 134,268,505 134,315,431 RGD:9068941
G NANS N-acetylneuraminate synthase JBrowse link 9 97,267,088 97,293,385 RGD:9068941
G NIPBL NIPBL cohesin loading factor JBrowse link 5 78,585,649 78,772,665 RGD:9068941
G NPPC natriuretic peptide C JBrowse link 2B 237,936,938 237,941,244 RGD:9068941
G NPR2 natriuretic peptide receptor 2 JBrowse link 9 36,445,576 36,462,637 RGD:9068941
G PCSK5 proprotein convertase subtilisin/kexin type 5 JBrowse link 9 74,745,187 75,224,347 RGD:9068941
G RPS6KA3 ribosomal protein S6 kinase A3 JBrowse link X 20,131,474 20,251,244 RGD:9068941
G SH3PXD2B SH3 and PX domains 2B JBrowse link 5 174,599,996 174,719,951 RGD:9068941
G SLC26A2 solute carrier family 26 member 2 JBrowse link 5 151,391,842 151,418,249 RGD:9068941
G SLC34A1 solute carrier family 34 member 1 JBrowse link 5 179,748,492 179,762,804 RGD:9068941
G SOST sclerostin JBrowse link 17 13,804,374 13,809,432 RGD:9068941
G TGFB2 transforming growth factor beta 2 JBrowse link 1 198,758,718 198,856,853 RGD:9068941
G TMCO1 transmembrane and coiled-coil domains 1 JBrowse link 1 144,948,169 144,989,880 RGD:9068941
G TNFRSF11A TNF receptor superfamily member 11a JBrowse link 18 59,032,727 59,075,044 RGD:9068941
G TP53 tumor protein p53 JBrowse link 17 7,687,132 7,706,120 RGD:9068941
G TRPS1 transcriptional repressor GATA binding 1 JBrowse link 8 114,626,357 114,854,222 RGD:9068941
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 12 110,754,238 110,786,182 RGD:9068941
G ZIC3 Zic family member 3 JBrowse link X 136,954,024 136,968,240 RGD:9068941
Bone Metastasis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALOX12 arachidonate 12-lipoxygenase, 12S type JBrowse link 17 7,014,038 7,029,602 RGD:9068941
G BRIP1 BRCA1 interacting protein C-terminal helicase 1 JBrowse link 17 60,901,073 61,083,462 RGD:9068941
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 JBrowse link 6 133,698,904 133,783,644 RGD:9068941
G MMP13 matrix metallopeptidase 13 JBrowse link 11 101,374,960 101,387,702 RGD:9068941
G PDGFD platelet derived growth factor D JBrowse link 11 102,337,099 102,593,741 RGD:9068941
Bone Neoplasms term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BAP1 BRCA1 associated protein 1 JBrowse link 3 53,573,785 53,581,943 RGD:9068941
G MMP2 matrix metallopeptidase 2 JBrowse link 16 54,817,228 54,844,279 RGD:9068941
G MMP9 matrix metallopeptidase 9 JBrowse link 20 43,432,389 43,440,129 RGD:9068941
G NCOA3 nuclear receptor coactivator 3 JBrowse link 20 44,919,348 45,073,549 RGD:9068941
G PLAU plasminogen activator, urokinase JBrowse link 10 73,104,808 73,113,136 RGD:9068941
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 JBrowse link 3 150,675,423 150,764,939 RGD:9068941
G PTGS2 prostaglandin-endoperoxide synthase 2 JBrowse link 1 166,355,845 166,364,517 RGD:9068941
G TGFBR2 transforming growth factor beta receptor 2 JBrowse link 3 30,854,071 30,941,378 RGD:9068941
bone resorption disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AHR aryl hydrocarbon receptor JBrowse link 7 17,278,637 17,326,171 RGD:9068941
G BMP7 bone morphogenetic protein 7 JBrowse link 20 54,788,974 54,885,015 RGD:9068941
G COL2A1 collagen type II alpha 1 chain JBrowse link 12 41,600,206 41,631,789 RGD:9068941
G CXCL2 C-X-C motif chemokine ligand 2 JBrowse link 4 55,925,562 55,927,809 RGD:9068941
G GHRL ghrelin and obestatin prepropeptide JBrowse link 3 10,573,537 10,580,723 RGD:9068941
G LOC100984744 aromatase JBrowse link 15 48,486,688 48,616,347 RGD:9068941
G PTH parathyroid hormone JBrowse link 11 13,347,829 13,351,951 RGD:9068941
G PTHLH parathyroid hormone like hormone JBrowse link 12 60,959,327 60,973,749 RGD:9068941
G TNFRSF11B TNF receptor superfamily member 11b JBrowse link 8 118,134,305 118,162,422 RGD:9068941
G TNFSF11 TNF superfamily member 11 RGD:9068941
bone structure disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POSTN periostin JBrowse link 13 37,371,296 37,407,202 RGD:9068941
G QRFPR pyroglutamylated RFamide peptide receptor JBrowse link 4 124,676,059 124,729,754 RGD:9068941
Boomerang dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FLNB filamin B JBrowse link 3 59,359,234 59,521,989 RGD:7240710
RGD:9068941
Brachioskeletogenital Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CDH11 cadherin 11 JBrowse link 16 64,367,862 64,543,189 RGD:9068941
RGD:7240710
Brachycephaly, Trichomegaly, and Developmental Delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RPS23 ribosomal protein S23 JBrowse link 5 33,323,233 33,325,775 RGD:9068941
RGD:7240710
brachydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATRX ATRX chromatin remodeler JBrowse link X 76,795,574 77,083,486 RGD:9068941
G BMPR1B bone morphogenetic protein receptor type 1B JBrowse link 4 97,912,541 98,194,890 RGD:9068941
G CHST11 carbohydrate sulfotransferase 11 JBrowse link 12 105,730,321 105,735,380 RGD:9068941
G GDF5 growth differentiation factor 5 JBrowse link 20 32,882,094 32,903,044 RGD:9068941
G GNAS GNAS complex locus JBrowse link 20 56,460,906 56,620,313 RGD:9068941
G HDAC4 histone deacetylase 4 JBrowse link 2B 245,123,061 245,428,441 RGD:9068941
G HOXD13 homeobox D13 JBrowse link 2B 181,081,518 181,085,295 RGD:9068941
G IHH Indian hedgehog signaling molecule JBrowse link 2B 224,905,488 224,917,887 RGD:9068941
G IQCE IQ motif containing E JBrowse link 7 2,913,345 2,968,619 RGD:9068941
G MEFV MEFV innate immuity regulator, pyrin JBrowse link 16 3,354,981 3,368,970 RGD:9068941
G NIPBL NIPBL cohesin loading factor JBrowse link 5 78,585,649 78,772,665 RGD:9068941
G PPP2R1A protein phosphatase 2 scaffold subunit Aalpha JBrowse link 19 58,011,383 58,047,577 RGD:9068941
G ROR2 receptor tyrosine kinase like orphan receptor 2 JBrowse link 9 90,879,826 90,939,834 RGD:9068941
G SLC26A2 solute carrier family 26 member 2 JBrowse link 5 151,391,842 151,418,249 RGD:9068941
G SMAD4 SMAD family member 4 JBrowse link 18 47,692,311 47,802,530 RGD:9068941
G TRPS1 transcriptional repressor GATA binding 1 JBrowse link 8 114,626,357 114,854,222 RGD:9068941
G TULP1 TUB like protein 1 JBrowse link 6 36,151,294 36,166,210 RGD:9068941
brachydactyly type A1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GDF5 growth differentiation factor 5 JBrowse link 20 32,882,094 32,903,044 RGD:9068941
G IHH Indian hedgehog signaling molecule JBrowse link 2B 224,905,488 224,917,887 RGD:7240710
RGD:9068941
G SHH sonic hedgehog signaling molecule JBrowse link 7 159,116,966 159,126,660 RGD:9068941
brachydactyly type A1C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GDF5 growth differentiation factor 5 JBrowse link 20 32,882,094 32,903,044 RGD:7240710
RGD:9068941
brachydactyly type A1D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BMPR1B bone morphogenetic protein receptor type 1B JBrowse link 4 97,912,541 98,194,890 RGD:9068941
RGD:7240710
brachydactyly type A2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BMP2 bone morphogenetic protein 2 JBrowse link 20 6,546,173 6,558,627 RGD:7240710
RGD:9068941
G BMPR1B bone morphogenetic protein receptor type 1B JBrowse link 4 97,912,541 98,194,890 RGD:7240710
RGD:9068941
G GDF5 growth differentiation factor 5 JBrowse link 20 32,882,094 32,903,044 RGD:7240710
RGD:9068941
brachydactyly type A4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HOXD13 homeobox D13 JBrowse link 2B 181,081,518 181,085,295 RGD:9068941
brachydactyly type B1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ROR2 receptor tyrosine kinase like orphan receptor 2 JBrowse link 9 90,879,826 90,939,834 RGD:7240710
RGD:9068941
brachydactyly type B2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NOG noggin JBrowse link 17 55,532,208 55,533,782 RGD:7240710
RGD:9068941
brachydactyly type C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GDF5 growth differentiation factor 5 JBrowse link 20 32,882,094 32,903,044 RGD:7240710
RGD:9068941
brachydactyly type D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HOXD13 homeobox D13 JBrowse link 2B 181,081,518 181,085,295 RGD:7240710
RGD:9068941
brachydactyly type E1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HOXD13 homeobox D13 JBrowse link 2B 181,081,518 181,085,295 RGD:7240710
RGD:9068941
brachydactyly type E2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PTHLH parathyroid hormone like hormone JBrowse link 12 60,959,327 60,973,749 RGD:7240710
RGD:9068941
Brachydactyly, Type E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HDAC4 histone deacetylase 4 JBrowse link 2B 245,123,061 245,428,441 RGD:9068941
G HOXD13 homeobox D13 JBrowse link 2B 181,081,518 181,085,295 RGD:9068941
brachydactyly-syndactyly syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HOXD13 homeobox D13 JBrowse link 2B 181,081,518 181,085,295 RGD:7240710
RGD:9068941
brachyolmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LTBP3 latent transforming growth factor beta binding protein 3 JBrowse link 11 64,233,504 64,252,797 RGD:9068941
G PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 JBrowse link 10 87,890,631 87,977,839 RGD:9068941
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 12 110,754,238 110,786,182 RGD:9068941
Brachyolmia Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 12 110,754,238 110,786,182 RGD:9068941
Brachyolmia Type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 12 110,754,238 110,786,182 RGD:7240710
RGD:9068941
brachyolmia-amelogenesis imperfecta syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LTBP3 latent transforming growth factor beta binding protein 3 JBrowse link 11 64,233,504 64,252,797 RGD:7240710
RGD:9068941
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CSF1R colony stimulating factor 1 receptor JBrowse link 5 151,483,948 151,543,128 RGD:7240710
RGD:9068941
Brain-Lung-Thyroid Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NKX2-1 NK2 homeobox 1 JBrowse link 14 35,627,911 35,633,377 RGD:7240710
RGD:9068941
G SFTA3 surfactant associated 3 JBrowse link 14 35,403,557 35,627,438 RGD:9068941
Bruck syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FKBP10 FKBP prolyl isomerase 10 JBrowse link 17 15,708,825 15,718,973 RGD:9068941
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 JBrowse link 3 150,675,423 150,764,939 RGD:9068941
Bruck Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FKBP10 FKBP prolyl isomerase 10 JBrowse link 17 15,708,825 15,718,973 RGD:7240710
RGD:9068941
Bruck Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 JBrowse link 3 150,675,423 150,764,939 RGD:7240710
RGD:9068941
Buschke-Ollendorff Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ELN elastin JBrowse link 7 81,177,699 81,218,306 RGD:9068941
G LEMD3 LEM domain containing 3 JBrowse link 12 24,172,749 24,251,533 RGD:7240710
RGD:9068941
Caffey disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G A4GALT alpha 1,4-galactosyltransferase (P blood group) JBrowse link 22 41,738,285 41,765,283 RGD:9068941
G COL1A1 collagen type I alpha 1 chain JBrowse link 17 49,149,277 49,166,833 RGD:7240710
RGD:9068941
campomelic dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SOX9 SRY-box transcription factor 9 JBrowse link 17 71,491,419 71,498,911 RGD:7240710
RGD:9068941
Campomelic Dysplasia with Autosomal Sex Reversal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SOX9 SRY-box transcription factor 9 JBrowse link 17 71,491,419 71,498,911 RGD:9068941
Camptocormia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100978529 myosin-7 JBrowse link 14 22,325,814 22,348,763 RGD:9068941
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 15 87,214,451 87,234,739 RGD:9068941
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 8 101,016,069 101,052,235 RGD:9068941
camptodactyly-arthropathy-coxa vara-pericarditis syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PRG4 proteoglycan 4 JBrowse link 1 165,977,437 165,994,170 RGD:7240710
RGD:9068941
G TPR translocated promoter region, nuclear basket protein JBrowse link 1 165,993,726 166,055,223 RGD:9068941
camptodactyly-tall stature-scoliosis-hearing loss syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 4 1,843,780 1,858,635 RGD:7240710
RGD:9068941
Camurati-Engelmann disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MITF melanocyte inducing transcription factor JBrowse link 3 71,037,671 71,265,445 RGD:9068941
G TGFB1 transforming growth factor beta 1 JBrowse link 19 46,831,659 46,852,973 RGD:7240710
RGD:9068941
Carey-Fineman-Ziter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYMK myomaker, myoblast fusion factor JBrowse link 9 133,248,761 133,259,631 RGD:9068941
RGD:7240710
Carpenter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BAG2 BAG cochaperone 2 JBrowse link 6 58,360,889 58,373,733 RGD:9068941
G MEGF8 multiple EGF like domains 8 JBrowse link 19 47,805,307 47,858,636 RGD:9068941
G RAB23 RAB23, member RAS oncogene family JBrowse link 6 58,375,559 58,411,104 RGD:9068941
Carpenter Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RAB23 RAB23, member RAS oncogene family JBrowse link 6 58,375,559 58,411,104 RGD:7240710
RGD:9068941
Carpenter Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MEGF8 multiple EGF like domains 8 JBrowse link 19 47,805,307 47,858,636 RGD:7240710
RGD:9068941
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial JBrowse link 1 200,703,860 200,756,849 RGD:7240710
RGD:9068941
Catel Manzke Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TGDS TDP-glucose 4,6-dehydratase JBrowse link 13 94,903,511 94,925,637 RGD:7240710
RGD:9068941
Cenani-Lenz syndactyly syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LRP4 LDL receptor related protein 4 JBrowse link 11 47,364,195 47,409,143 RGD:7240710
RGD:9068941
Cerebellar Hypoplasia with Endosteal Sclerosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POLR3B RNA polymerase III subunit B JBrowse link 12 107,330,315 107,477,279 RGD:9068941
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ARMS2 age-related maculopathy susceptibility 2 JBrowse link 10 122,434,800 122,437,551 RGD:9068941
G HTRA1 HtrA serine peptidase 1 JBrowse link 10 122,437,914 122,495,281 RGD:7240710
RGD:9068941
Cerebrooculofacioskeletal Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC6 ERCC excision repair 6, chromatin remodeling factor RGD:9068941
Cerebrooculofacioskeletal Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 19 50,897,004 50,915,849 RGD:9068941
G ERCC6 ERCC excision repair 6, chromatin remodeling factor RGD:7240710
RGD:9068941
Cerebrooculofacioskeletal Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 19 50,897,004 50,915,849 RGD:7240710
RGD:9068941
Cerebrooculofacioskeletal Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC5 ERCC excision repair 5, endonuclease JBrowse link 13 103,142,508 103,173,022 RGD:7240710
RGD:9068941
Cerebrooculofacioskeletal Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 19 50,951,674 50,994,600 RGD:7240710
RGD:9068941
cherubism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SH3BP2 SH3 domain binding protein 2 JBrowse link 4 2,838,521 2,882,265 RGD:7240710
RGD:9068941
chondrocalcinosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANKH ANKH inorganic pyrophosphate transport regulator JBrowse link 5 14,849,497 15,015,206 RGD:9068941
G OTULIN OTU deubiquitinase with linear linkage specificity JBrowse link 5 14,810,187 14,857,597 RGD:9068941
G POMC proopiomelanocortin JBrowse link 2A 25,258,768 25,266,806 RGD:9068941
Chondrocalcinosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANKH ANKH inorganic pyrophosphate transport regulator JBrowse link 5 14,849,497 15,015,206 RGD:7240710
RGD:9068941
G OTULIN OTU deubiquitinase with linear linkage specificity JBrowse link 5 14,810,187 14,857,597 RGD:9068941
chondrodysplasia Blomstrand type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PTH1R parathyroid hormone 1 receptor JBrowse link 3 47,882,369 47,905,573 RGD:9068941
RGD:7240710
chondrodysplasia punctata term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ARSL arylsulfatase L JBrowse link X 2,886,341 2,919,343 RGD:9068941
G EBP EBP cholestenol delta-isomerase JBrowse link X 48,683,531 48,690,829 RGD:9068941
Chondrodysplasia with Joint Dislocations, GPAPP Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IMPAD1 inositol monophosphatase domain containing 1 JBrowse link 8 50,753,792 50,785,055 RGD:7240710
RGD:9068941
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HDAC6 histone deacetylase 6 JBrowse link X 48,960,181 48,982,648 RGD:7240710
RGD:9068941
Chondrodysplasia, Megarbane-Dagher-Melki Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PAM16 presequence translocase associated motor 16 JBrowse link 16 4,421,899 4,445,761 RGD:7240710
RGD:9068941
chondrodysplasia-pseudohermaphroditism syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HHAT hedgehog acyltransferase JBrowse link 1 190,755,249 191,100,284 RGD:9068941
CHOPS SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AFF4 AF4/FMR2 family member 4 JBrowse link 5 134,451,740 134,532,517 RGD:7240710
RGD:9068941
chordoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MN1 MN1 proto-oncogene, transcriptional regulator JBrowse link 22 26,519,251 26,571,373 RGD:9068941
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase JBrowse link 3 12,853,415 12,932,871 RGD:9068941
G TBXT T-box transcription factor T JBrowse link 6 169,095,723 169,106,595 RGD:9068941
chronic granulomatous disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6PD glucose-6-phosphate dehydrogenase JBrowse link X 153,843,092 153,860,675 RGD:9068941
G IFNG interferon gamma JBrowse link 12 68,448,861 68,453,829 RGD:9068941
G LOC100982531 cytochrome b-245 heavy chain JBrowse link X 37,939,744 37,976,116 RGD:9068941
G LOC100986914 cytochrome b-245 light chain JBrowse link 16 89,016,349 89,024,719 RGD:9068941
G NCF1 neutrophil cytosolic factor 1 JBrowse link 7 81,917,167 81,932,589 RGD:9068941
G NCF2 neutrophil cytosolic factor 2 JBrowse link 1 163,243,636 163,280,547 RGD:9068941
G NCF4 neutrophil cytosolic factor 4 JBrowse link 22 35,611,589 35,631,400 RGD:9068941
G TLR5 toll like receptor 5 JBrowse link 1 203,797,720 203,831,605 RGD:9068941
chronic recurrent multifocal osteomyelitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACYP2 acylphosphatase 2 JBrowse link 2A 55,025,169 55,603,396 RGD:9068941
G MYNN myoneurin JBrowse link 3 174,840,160 174,856,668 RGD:9068941
G TERT telomerase reverse transcriptase JBrowse link 5 1,300,397 1,338,241 RGD:9068941
G ZBTB46 zinc finger and BTB domain containing 46 JBrowse link 20 61,667,319 61,770,196 RGD:9068941
cleft lip-palate-ectodermal dysplasia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NECTIN1 nectin cell adhesion molecule 1 JBrowse link 11 118,425,181 118,493,090 RGD:7240710
RGD:9068941
cleidocranial dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RNF146 ring finger protein 146 JBrowse link 6 129,170,440 129,192,602 RGD:9068941
G RUNX2 RUNX family transcription factor 2 JBrowse link 6 46,189,426 46,411,889 RGD:7240710
RGD:9068941
G SUPT3H SPT3 homolog, SAGA and STAGA complex component JBrowse link 6 45,687,038 46,239,155 RGD:9068941
Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RUNX2 RUNX family transcription factor 2 JBrowse link 6 46,189,426 46,411,889 RGD:9068941
Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RUNX2 RUNX family transcription factor 2 JBrowse link 6 46,189,426 46,411,889 RGD:9068941
clubfoot term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AARS1 alanyl-tRNA synthetase 1 JBrowse link 16 70,086,735 70,121,902 RGD:9068941
G CC2D2A coiled-coil and C2 domain containing 2A JBrowse link 4 15,204,326 15,345,522 RGD:9068941
G CHST14 carbohydrate sulfotransferase 14 JBrowse link 15 37,660,619 37,662,436 RGD:9068941
G COL5A1 collagen type V alpha 1 chain JBrowse link 9 134,391,081 134,543,769 RGD:9068941
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial JBrowse link 1 153,045,886 153,080,461 RGD:9068941
G FKBP8 FKBP prolyl isomerase 8 JBrowse link 19 18,980,269 18,992,170 RGD:9068941
G FLNB filamin B JBrowse link 3 59,359,234 59,521,989 RGD:9068941
G FRAS1 Fraser extracellular matrix complex subunit 1 JBrowse link 4 51,497,242 51,983,161 RGD:9068941
G GLI3 GLI family zinc finger 3 JBrowse link 7 42,056,566 42,322,865 RGD:9068941
G GRIP1 glutamate receptor interacting protein 1 JBrowse link 12 22,826,257 23,069,480 RGD:9068941
G HOXD12 homeobox D12 JBrowse link 2B 181,089,181 181,091,055 RGD:9068941
G HOXD13 homeobox D13 JBrowse link 2B 181,081,518 181,085,295 RGD:9068941
G INPP5E inositol polyphosphate-5-phosphatase E JBrowse link 9 136,482,815 136,492,731 RGD:9068941
G LMX1B LIM homeobox transcription factor 1 beta JBrowse link 9 126,240,722 126,322,716 RGD:9068941
G LOC100976184 cytochrome P450 1A1 JBrowse link 15 73,284,566 73,290,636 RGD:9068941
G MTHFR methylenetetrahydrofolate reductase JBrowse link 1 11,766,334 11,785,645 RGD:9068941
G PITX1 paired like homeodomain 1 JBrowse link 5 136,565,285 136,570,346 RGD:7240710
RGD:9068941
G PKD1 polycystin 1, transient receptor potential channel interacting JBrowse link 16 2,176,778 2,185,337 RGD:9068941
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 JBrowse link 3 150,675,423 150,764,939 RGD:9068941
G RET ret proto-oncogene JBrowse link 10 43,256,437 43,286,340 RGD:9068941
G RYR1 ryanodine receptor 1 JBrowse link 19 44,099,196 44,256,470 RGD:9068941
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 JBrowse link 11 66,429,435 66,441,327 RGD:9068941
G TNFRSF13B TNF receptor superfamily member 13B JBrowse link 17 39,252,858 39,286,007 RGD:9068941
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 12 110,754,238 110,786,182 RGD:9068941
G TTN titin JBrowse link 2B 183,487,352 183,767,268 RGD:9068941
G VANGL1 VANGL planar cell polarity protein 1 JBrowse link 1 121,915,093 121,970,552 RGD:9068941
Cockayne syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 19 50,951,674 50,994,600 RGD:9068941
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 19 50,897,004 50,915,849 RGD:9068941
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link 2B 127,922,483 127,959,372 RGD:9068941
G ERCC5 ERCC excision repair 5, endonuclease JBrowse link 13 103,142,508 103,173,022 RGD:9068941
G ERCC6 ERCC excision repair 6, chromatin remodeling factor RGD:9068941
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit JBrowse link 5 54,693,987 54,765,496 RGD:9068941
G GHR growth hormone receptor JBrowse link 5 72,700,150 72,997,356 RGD:9068941
G IGF1 insulin like growth factor 1 JBrowse link 12 103,385,911 103,463,264 RGD:9068941
G NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 JBrowse link 5 54,484,800 54,693,930 RGD:9068941
G XPA XPA, DNA damage recognition and repair factor JBrowse link 9 96,866,303 96,909,260 RGD:9068941
Cockayne Syndrome A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit JBrowse link 5 54,693,987 54,765,496 RGD:7240710
RGD:9068941
G NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 JBrowse link 5 54,484,800 54,693,930 RGD:9068941
Cockayne Syndrome B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC6 ERCC excision repair 6, chromatin remodeling factor RGD:7240710
RGD:9068941
CODAS syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LONP1 lon peptidase 1, mitochondrial JBrowse link 19 5,644,525 5,670,956 RGD:7240710
RGD:9068941
Cole-Carpenter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G P4HB prolyl 4-hydroxylase subunit beta JBrowse link 17 81,950,826 81,968,329 RGD:9068941
G SEC24D SEC24 homolog D, COPII coat complex component JBrowse link 4 121,468,914 121,584,647 RGD:9068941
Cole-Carpenter Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G P4HB prolyl 4-hydroxylase subunit beta JBrowse link 17 81,950,826 81,968,329 RGD:7240710
RGD:9068941
Cole-Carpenter Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SEC24D SEC24 homolog D, COPII coat complex component JBrowse link 4 121,468,914 121,584,647 RGD:7240710
RGD:9068941
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MITF melanocyte inducing transcription factor JBrowse link 3 71,037,671 71,265,445 RGD:9068941
RGD:7240710
Combined Cellular and Humoral Immune Defects with Granulomas term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RAG1 recombination activating 1 JBrowse link 11 36,356,483 36,418,891 RGD:7240710
RGD:9068941
G RAG2 recombination activating 2 JBrowse link 11 36,431,067 36,437,390 RGD:7240710
RGD:9068941
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACP5 acid phosphatase 5, tartrate resistant JBrowse link 19 11,832,575 11,836,881 RGD:7240710
RGD:9068941
G ZNF627 zinc finger protein 627 JBrowse link 19 11,816,692 11,875,349 RGD:9068941
Combined Pituitary Hormone Deficiency, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHMP2B charged multivesicular body protein 2B JBrowse link 3 89,471,993 89,500,127 RGD:9068941
G LHX3 LIM homeobox 3 JBrowse link 9 136,252,974 136,260,366 RGD:9068941
G POU1F1 POU class 1 homeobox 1 JBrowse link 3 89,504,290 89,521,168 RGD:9068941
Combined Pituitary Hormone Deficiency, 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LHX3 LIM homeobox 3 JBrowse link 9 136,252,974 136,260,366 RGD:7240710
RGD:9068941
Combined Pituitary Hormone Deficiency, 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACBD6 acyl-CoA binding domain containing 6 JBrowse link 1 159,448,023 159,661,741 RGD:9068941
G LHX4 LIM homeobox 4 JBrowse link 1 159,390,105 159,438,802 RGD:7240710
RGD:9068941
congenital disorder of glycosylation type IIa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DNAAF2 dynein axonemal assembly factor 2 JBrowse link 14 48,513,343 48,523,031 RGD:9068941
G MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase JBrowse link 14 48,508,936 48,511,644 RGD:7240710
RGD:9068941
congenital hypothyroidism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ARPC5 actin related protein 2/3 complex subunit 5 JBrowse link 1 163,313,832 163,323,553 RGD:9068941
G ATP5PD ATP synthase peripheral stalk subunit d JBrowse link 17 74,541,363 74,549,700 RGD:9068941
G BGLAP bone gamma-carboxyglutamate protein JBrowse link 1 135,413,871 135,416,432 RGD:9068941
G CEP128 centrosomal protein 128 JBrowse link 14 80,235,470 80,704,684 RGD:9068941
G DUOX2 dual oxidase 2 JBrowse link 15 42,393,643 42,414,281 RGD:9068941
G EGR1 early growth response 1 JBrowse link 5 139,975,635 139,979,259 RGD:9068941
G FOXE1 forkhead box E1 JBrowse link 9 97,065,256 97,068,012 RGD:9068941
G G6PD glucose-6-phosphate dehydrogenase JBrowse link X 153,843,092 153,860,675 RGD:9068941
G GHR growth hormone receptor JBrowse link 5 72,700,150 72,997,356 RGD:9068941
G IGF1 insulin like growth factor 1 JBrowse link 12 103,385,911 103,463,264 RGD:9068941
G IGSF1 immunoglobulin superfamily member 1 JBrowse link X 130,714,056 130,729,963 RGD:9068941
G INHBB inhibin subunit beta B JBrowse link 2B 120,857,849 120,860,564 RGD:9068941
G IYD iodotyrosine deiodinase JBrowse link 6 152,886,367 152,922,152 RGD:9068941
G LOC100971425 somatotropin JBrowse link 17 63,103,339 63,105,719 RGD:9068941
G NEFH neurofilament heavy JBrowse link 22 28,331,778 28,341,874 RGD:9068941
G NEFL neurofilament light JBrowse link 8 21,134,533 21,140,694 RGD:9068941
G NEFM neurofilament medium JBrowse link 8 21,097,646 21,103,263 RGD:9068941
G NGFR nerve growth factor receptor JBrowse link 17 8,075,301 8,094,966 RGD:9068941
G PAX8 paired box 8 JBrowse link 2A 114,162,110 114,222,865 RGD:9068941
G PPARGC1A PPARG coactivator 1 alpha JBrowse link 4 23,483,377 24,160,574 RGD:9068941
G RUNX2 RUNX family transcription factor 2 JBrowse link 6 46,189,426 46,411,889 RGD:9068941
G SLC5A5 solute carrier family 5 member 5 JBrowse link 19 18,327,410 18,344,480 RGD:9068941
G TG thyroglobulin JBrowse link 8 132,495,516 132,764,918 RGD:9068941
G TPO thyroid peroxidase JBrowse link 2A 1,334,608 1,493,308 RGD:9068941
G TRHR thyrotropin releasing hormone receptor JBrowse link 8 107,886,593 107,918,825 RGD:9068941
G TSHB thyroid stimulating hormone subunit beta JBrowse link 1 122,575,546 122,580,028 RGD:9068941
G TSHR thyroid stimulating hormone receptor JBrowse link 14 80,718,183 80,907,839 RGD:9068941
G TUBB1 tubulin beta 1 class VI JBrowse link 20 56,730,882 56,738,741 RGD:9068941
congenital nongoitrous hypothyroidism 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CEP128 centrosomal protein 128 JBrowse link 14 80,235,470 80,704,684 RGD:9068941
G TSHR thyroid stimulating hormone receptor JBrowse link 14 80,718,183 80,907,839 RGD:9068941
RGD:7240710
congenital nongoitrous hypothyroidism 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PAX8 paired box 8 JBrowse link 2A 114,162,110 114,222,865 RGD:7240710
RGD:9068941
congenital nongoitrous hypothyroidism 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TSHB thyroid stimulating hormone subunit beta JBrowse link 1 122,575,546 122,580,028 RGD:7240710
RGD:9068941
congenital nongoitrous hypothyroidism 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NKX2-5 NK2 homeobox 5 JBrowse link 5 175,492,288 175,495,514 RGD:7240710
RGD:9068941
congenital nongoitrous hypothyroidism 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NR1D1 nuclear receptor subfamily 1 group D member 1 JBrowse link 17 17,409,669 17,417,600 RGD:9068941
G THRA thyroid hormone receptor alpha JBrowse link 17 17,420,186 17,448,502 RGD:7240710
RGD:9068941
Congenital Nongoitrous Hypothyroidism 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TRHR thyrotropin releasing hormone receptor JBrowse link 8 107,886,593 107,918,825 RGD:7240710
RGD:9068941
Congenital Nongoitrous Hypothyroidism 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TBL1X transducin beta like 1 X-linked JBrowse link X 9,350,820 9,606,063 RGD:7240710
RGD:9068941
Congenital Nongoitrous Hypothyroidism 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IRS4 insulin receptor substrate 4 JBrowse link X 108,202,208 108,205,984 RGD:7240710
RGD:9068941
Cousin Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TBX15 T-box transcription factor 15 JBrowse link 1 118,554,476 118,659,379 RGD:7240710
RGD:9068941
Craniodiaphyseal Dysplasia, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SOST sclerostin JBrowse link 17 13,804,374 13,809,432 RGD:7240710
RGD:9068941
Cranioectodermal Dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IFT122 intraflagellar transport 122 JBrowse link 3 133,851,433 133,930,117 RGD:7240710
RGD:9068941
Cranioectodermal Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SPAG17 sperm associated antigen 17 JBrowse link 1 119,335,369 119,556,711 RGD:9068941
G WDR35 WD repeat domain 35 JBrowse link 2A 20,014,127 20,093,794 RGD:7240710
RGD:9068941
Cranioectodermal Dysplasia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IFT43 intraflagellar transport 43 JBrowse link 14 75,387,742 75,485,904 RGD:7240710
RGD:9068941
Cranioectodermal Dysplasia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G WDR19 WD repeat domain 19 JBrowse link 4 39,365,204 39,470,074 RGD:7240710
RGD:9068941
craniolenticulosutural dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SEC23A Sec23 homolog A, COPII coat complex component JBrowse link 14 38,159,381 38,229,366 RGD:7240710
RGD:9068941
craniometaphyseal dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANKH ANKH inorganic pyrophosphate transport regulator JBrowse link 5 14,849,497 15,015,206 RGD:9068941
G GJA1 gap junction protein alpha 1 JBrowse link 6 123,348,744 123,360,887 RGD:9068941
G IFT43 intraflagellar transport 43 JBrowse link 14 75,387,742 75,485,904 RGD:9068941
G OTULIN OTU deubiquitinase with linear linkage specificity JBrowse link 5 14,810,187 14,857,597 RGD:9068941
G SOST sclerostin JBrowse link 17 13,804,374 13,809,432 RGD:9068941
G WDR19 WD repeat domain 19 JBrowse link 4 39,365,204 39,470,074 RGD:9068941
craniosynostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALX4 ALX homeobox 4 JBrowse link 11 44,714,503 44,729,758 RGD:9068941
G AXIN2 axin 2 JBrowse link 17 64,688,416 64,720,086 RGD:9068941
G BBS9 Bardet-Biedl syndrome 9 JBrowse link 7 34,124,812 34,634,710 RGD:9068941
G BMP2 bone morphogenetic protein 2 JBrowse link 20 6,546,173 6,558,627 RGD:9068941
G EFNB1 ephrin B1 JBrowse link X 68,139,078 68,152,127 RGD:9068941
G ERF ETS2 repressor factor JBrowse link 19 47,728,192 47,735,808 RGD:9068941
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit JBrowse link 7 153,017,590 153,059,726 RGD:9068941
G FBN2 fibrillin 2 JBrowse link 5 129,435,248 129,715,699 RGD:9068941
G FGFR1 fibroblast growth factor receptor 1 JBrowse link 8 34,890,147 34,948,904 RGD:9068941
G FGFR2 fibroblast growth factor receptor 2 JBrowse link 10 121,469,735 121,588,815 RGD:9068941
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 4 1,843,780 1,858,635 RGD:9068941
G FLNA filamin A RGD:9068941
G FREM1 FRAS1 related extracellular matrix 1 JBrowse link 9 15,081,208 15,254,581 RGD:9068941
G IFT122 intraflagellar transport 122 JBrowse link 3 133,851,433 133,930,117 RGD:9068941
G KAT6B lysine acetyltransferase 6B JBrowse link 10 74,020,143 74,225,546 RGD:9068941
G LOC100978529 myosin-7 JBrowse link 14 22,325,814 22,348,763 RGD:9068941
G MSX2 msh homeobox 2 JBrowse link 5 176,968,315 176,974,679 RGD:9068941
G NELL1 neural EGFL like 1 JBrowse link 11 20,607,371 21,508,938 RGD:9068941
G NOG noggin JBrowse link 17 55,532,208 55,533,782 RGD:9068941
G NPR2 natriuretic peptide receptor 2 JBrowse link 9 36,445,576 36,462,637 RGD:9068941
G SKI SKI proto-oncogene JBrowse link 1 2,091,620 2,174,080 RGD:9068941
G SMAD6 SMAD family member 6 JBrowse link 15 63,923,356 64,001,607 RGD:9068941
G TCF12 transcription factor 12 JBrowse link 15 54,200,383 54,570,440 RGD:9068941
G TWIST1 twist family bHLH transcription factor 1 JBrowse link 7 19,086,842 19,088,398 RGD:7240710
RGD:9068941
G WDR35 WD repeat domain 35 JBrowse link 2A 20,014,127 20,093,794 RGD:9068941
G ZIC1 Zic family member 1 JBrowse link 3 152,019,288 152,024,497 RGD:9068941
G ZNF462 zinc finger protein 462 JBrowse link 9 106,204,605 106,357,848 RGD:9068941
Craniosynostosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MSX2 msh homeobox 2 JBrowse link 5 176,968,315 176,974,679 RGD:7240710
RGD:9068941
Craniosynostosis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 4 1,843,780 1,858,635 RGD:9068941
G TCF12 transcription factor 12 JBrowse link 15 54,200,383 54,570,440 RGD:7240710
RGD:9068941
G TWIST1 twist family bHLH transcription factor 1 JBrowse link 7 19,086,842 19,088,398 RGD:9068941
Craniosynostosis 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERF ETS2 repressor factor JBrowse link 19 47,728,192 47,735,808 RGD:7240710
RGD:9068941
G LOC100978529 myosin-7 JBrowse link 14 22,325,814 22,348,763 RGD:9068941
Craniosynostosis 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALX4 ALX homeobox 4 JBrowse link 11 44,714,503 44,729,758 RGD:9068941
RGD:7240710
Craniosynostosis 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ZIC1 Zic family member 1 JBrowse link 3 152,019,288 152,024,497 RGD:7240710
RGD:9068941
Craniosynostosis 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BMP2 bone morphogenetic protein 2 JBrowse link 20 6,546,173 6,558,627 RGD:9068941
G SMAD6 SMAD family member 6 JBrowse link 15 63,923,356 64,001,607 RGD:7240710
RGD:9068941
Craniosynostosis and Dental Anomalies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IL11RA interleukin 11 receptor subunit alpha JBrowse link 9 35,297,316 35,307,159 RGD:7240710
RGD:9068941
Craniosynostosis Syndrome, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGFR2 fibroblast growth factor receptor 2 JBrowse link 10 121,469,735 121,588,815 RGD:9068941
Crouzon syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGFR2 fibroblast growth factor receptor 2 JBrowse link 10 121,469,735 121,588,815 RGD:7240710
RGD:9068941
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 4 1,843,780 1,858,635 RGD:9068941
G TCOF1 treacle ribosome biogenesis factor 1 JBrowse link 5 151,775,784 151,828,980 RGD:9068941
Crouzon syndrome-acanthosis nigricans syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 4 1,843,780 1,858,635 RGD:7240710
RGD:9068941
cystic echinococcosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IL4 interleukin 4 JBrowse link 5 134,253,039 134,261,581 RGD:9068941
Czech Dysplasia, Metatarsal Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL2A1 collagen type II alpha 1 chain JBrowse link 12 41,600,206 41,631,789 RGD:7240710
RGD:9068941
De Sanctis-Cacchione Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC6 ERCC excision repair 6, chromatin remodeling factor RGD:7240710
RGD:9068941
Deficiency of Interleukin-1 Receptor Antagonist term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IL1RN interleukin 1 receptor antagonist JBrowse link 2A 114,061,182 114,077,048 RGD:9068941
RGD:7240710
degenerative disc disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACAN aggrecan JBrowse link 15 86,733,853 86,771,420 RGD:9068941
G ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif 4 JBrowse link 1 140,514,247 140,523,623 RGD:9068941
G ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 JBrowse link 21 26,738,671 26,788,736 RGD:9068941
G ASPN asporin JBrowse link 9 91,651,621 91,677,969 RGD:9068941
G BECN1 beclin 1 JBrowse link 17 14,719,781 14,733,286 RGD:9068941
G COL10A1 collagen type X alpha 1 chain JBrowse link 6 118,067,477 118,074,684 RGD:9068941
G COL1A1 collagen type I alpha 1 chain JBrowse link 17 49,149,277 49,166,833 RGD:9068941
G COL2A1 collagen type II alpha 1 chain JBrowse link 12 41,600,206 41,631,789 RGD:9068941
G CRK CRK proto-oncogene, adaptor protein JBrowse link 17 1,304,309 1,336,698 RGD:9068941
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 19 50,951,674 50,994,600 RGD:9068941
G GSK3B glycogen synthase kinase 3 beta JBrowse link 3 123,856,047 124,126,747 RGD:9068941
G MAP1LC3A microtubule associated protein 1 light chain 3 alpha JBrowse link 20 32,018,279 32,020,411 RGD:9068941
G MMP1 matrix metallopeptidase 1 JBrowse link 11 101,221,393 101,230,104 RGD:9068941
G MMP13 matrix metallopeptidase 13 JBrowse link 11 101,374,960 101,387,702 RGD:9068941
G MMP3 matrix metallopeptidase 3 JBrowse link 11 101,267,561 101,275,432 RGD:9068941
G NGF nerve growth factor JBrowse link 1 122,272,750 122,325,909 RGD:9068941
G NGFR nerve growth factor receptor JBrowse link 17 8,075,301 8,094,966 RGD:9068941
G PAPPA pappalysin 1 JBrowse link 9 115,671,212 115,889,135 RGD:9068941
G POSTN periostin JBrowse link 13 37,371,296 37,407,202 RGD:9068941
G SPARC secreted protein acidic and cysteine rich JBrowse link 5 153,091,160 153,115,745 RGD:9068941
G TGFB1 transforming growth factor beta 1 JBrowse link 19 46,831,659 46,852,973 RGD:9068941
G TIMP1 TIMP metallopeptidase inhibitor 1 JBrowse link X 47,914,906 47,919,419 RGD:9068941
Desbuquois dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CANT1 calcium activated nucleotidase 1 JBrowse link 17 78,612,406 78,626,174 RGD:9068941
G XYLT1 xylosyltransferase 1 JBrowse link 16 17,216,072 17,480,036 RGD:9068941
Desbuquois Dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CANT1 calcium activated nucleotidase 1 JBrowse link 17 78,612,406 78,626,174 RGD:7240710
RGD:9068941
G XYLT1 xylosyltransferase 1 JBrowse link 16 17,216,072 17,480,036 RGD:9068941
Desbuquois Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G XYLT1 xylosyltransferase 1 JBrowse link 16 17,216,072 17,480,036 RGD:7240710
RGD:9068941
Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TSR2 TSR2 ribosome maturation factor JBrowse link X 54,875,679 54,883,324 RGD:7240710
RGD:9068941
Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RPS26 ribosomal protein S26 JBrowse link 12 33,119,551 33,121,920 RGD:9068941
G RPS28 ribosomal protein S28 JBrowse link 19 8,458,321 8,459,250 RGD:7240710
RGD:9068941
G TSR2 TSR2 ribosome maturation factor JBrowse link X 54,875,679 54,883,324 RGD:9068941
Diaphanospondylodysostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BMPER BMP binding endothelial regulator JBrowse link 7 34,903,178 35,152,110 RGD:7240710
RGD:9068941
Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MTAP methylthioadenosine phosphorylase JBrowse link 9 22,253,357 22,316,883 RGD:7240710
RGD:9068941
diastrophic dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC26A2 solute carrier family 26 member 2 JBrowse link 5 151,391,842 151,418,249 RGD:7240710
RGD:9068941
Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC26A2 solute carrier family 26 member 2 JBrowse link 5 151,391,842 151,418,249 RGD:9068941
diffuse idiopathic skeletal hyperostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC29A1 solute carrier family 29 member 1 (Augustine blood group) JBrowse link 6 45,099,149 45,113,689 RGD:9068941
Digital Arthropathy-Brachydactyly, Familial term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 12 110,754,238 110,786,182 RGD:7240710
RGD:9068941
Doughnut Lesions of Skull, Familial term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SGMS2 sphingomyelin synthase 2 JBrowse link 4 110,902,572 110,992,887 RGD:9068941
RGD:7240710
Dwarfism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACAN aggrecan JBrowse link 15 86,733,853 86,771,420 RGD:9068941
G ACTB actin beta JBrowse link 7 5,800,540 5,803,121 RGD:9068941
G ADGRB3 adhesion G protein-coupled receptor B3 JBrowse link 6 69,785,260 70,537,440 RGD:9068941
G AFF2 AF4/FMR2 family member 2 JBrowse link X 147,950,886 148,446,235 RGD:9068941
G ALG12 ALG12 alpha-1,6-mannosyltransferase JBrowse link 22 49,126,228 49,136,740 RGD:9068941
G AMMECR1 AMMECR nuclear protein 1 JBrowse link X 109,772,466 109,896,343 RGD:9068941
G ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 JBrowse link 16 4,788,093 4,822,178 RGD:9068941
G ATR ATR serine/threonine kinase JBrowse link 3 147,074,993 147,204,399 RGD:9068941
G ATRX ATRX chromatin remodeler JBrowse link X 76,795,574 77,083,486 RGD:9068941
G BRD4 bromodomain containing 4 JBrowse link 19 15,752,096 15,789,630 RGD:9068941
G CCDC120 coiled-coil domain containing 120 JBrowse link X 49,207,391 49,223,622 RGD:9068941
G CCN2 cellular communication network factor 2 JBrowse link 6 133,836,319 133,839,017 RGD:9068941
G CEP76 centrosomal protein 76 JBrowse link 18 16,735,624 16,765,750 RGD:9068941
G CHD1L chromodomain helicase DNA binding protein 1 like JBrowse link 1 112,809,272 112,862,234 RGD:9068941
G CLGN calmegin JBrowse link 4 144,061,617 144,099,419 RGD:9068941
G CLIC4 chloride intracellular channel 4 JBrowse link 1 24,975,304 25,017,904 RGD:9068941
G CLIP1 CAP-Gly domain containing linker protein 1 JBrowse link 12 123,241,049 123,392,069 RGD:9068941
G COL2A1 collagen type II alpha 1 chain JBrowse link 12 41,600,206 41,631,789 RGD:9068941
G COL7A1 collagen type VII alpha 1 chain JBrowse link 3 49,567,831 49,599,027 RGD:9068941
G CPZ carboxypeptidase Z JBrowse link 4 8,623,879 8,684,722 RGD:9068941
G CUL4B cullin 4B JBrowse link X 119,985,109 120,034,715 RGD:9068941
G DENND4B DENN domain containing 4B JBrowse link 1 132,914,514 132,930,161 RGD:9068941
G DHX30 DExH-box helicase 30 JBrowse link 3 48,833,785 48,858,037 RGD:9068941
G DHX34 DExH-box helicase 34 JBrowse link 19 52,992,655 53,026,644 RGD:9068941
G DMD dystrophin JBrowse link X 31,279,878 32,974,614 RGD:9068941
G DNAH17 dynein axonemal heavy chain 17 JBrowse link 17 78,048,364 78,195,014 RGD:9068941
G DNMT3A DNA methyltransferase 3 alpha JBrowse link 2A 25,331,095 25,441,785 RGD:9068941
G DONSON downstream neighbor of SON JBrowse link 21 33,317,147 33,328,132 RGD:9068941
G DPRX divergent-paired related homeobox JBrowse link 19 59,423,417 59,428,237 RGD:9068941
G DVL3 dishevelled segment polarity protein 3 JBrowse link 3 189,674,405 189,691,749 RGD:9068941
G EDEM3 ER degradation enhancing alpha-mannosidase like protein 3 JBrowse link 1 164,372,977 164,436,977 RGD:9068941
G EP300 E1A binding protein p300 JBrowse link 22 40,079,214 40,168,936 RGD:9068941
G FBN1 fibrillin 1 JBrowse link 15 45,680,688 45,918,111 RGD:9068941
G FBRS fibrosin JBrowse link 16 31,026,069 31,038,868 RGD:9068941
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 4 1,843,780 1,858,635 RGD:9068941
G FKBP10 FKBP prolyl isomerase 10 JBrowse link 17 15,708,825 15,718,973 RGD:9068941
G FLNA filamin A RGD:9068941
G FZD2 frizzled class receptor 2 JBrowse link 17 13,007,752 13,013,346 RGD:9068941
G G6PC glucose-6-phosphatase catalytic subunit JBrowse link 17 14,635,667 14,646,674 RGD:9068941
G GABRE gamma-aminobutyric acid type A receptor epsilon subunit JBrowse link X 151,490,134 151,511,790 RGD:9068941
G GHR growth hormone receptor JBrowse link 5 72,700,150 72,997,356 RGD:9068941
G GHRL ghrelin and obestatin prepropeptide JBrowse link 3 10,573,537 10,580,723 RGD:9068941
G GHSR growth hormone secretagogue receptor JBrowse link 3 177,633,039 177,638,202 RGD:9068941
G GNAS GNAS complex locus JBrowse link 20 56,460,906 56,620,313 RGD:9068941
G GREB1L GREB1 like retinoic acid receptor coactivator JBrowse link 18 18,120,919 18,402,948 RGD:9068941
G HAPLN1 hyaluronan and proteoglycan link protein 1 JBrowse link 5 31,879,669 31,963,636 RGD:9068941
G HKDC1 hexokinase domain containing 1 JBrowse link 10 68,220,475 68,267,321 RGD:9068941
G HOOK3 hook microtubule tethering protein 3 JBrowse link 8 39,589,942 39,720,341 RGD:9068941
G HYPM huntingtin interacting protein M JBrowse link X 38,148,769 38,149,267 RGD:9068941
G IFT81 intraflagellar transport 81 JBrowse link 12 111,093,661 111,186,786 RGD:9068941
G IGF1 insulin like growth factor 1 JBrowse link 12 103,385,911 103,463,264 RGD:9068941
G IGFBP3 insulin like growth factor binding protein 3 JBrowse link 7 46,681,856 46,690,240 RGD:9068941
G ITIH6 inter-alpha-trypsin inhibitor heavy chain family member 6 JBrowse link X 55,188,633 55,231,778 RGD:9068941
G KCND1 potassium voltage-gated channel subfamily D member 1 JBrowse link X 49,115,933 49,127,030 RGD:9068941
G LAMA5 laminin subunit alpha 5 JBrowse link 20 59,991,859 60,052,486 RGD:9068941
G LOC100971425 somatotropin JBrowse link 17 63,103,339 63,105,719 RGD:9068941
G LZTR1 leucine zipper like transcription regulator 1 JBrowse link 22 19,695,348 19,713,007 RGD:9068941
G MACF1 microtubule actin crosslinking factor 1 JBrowse link 1 39,820,066 40,097,748 RGD:9068941
G MED24 mediator complex subunit 24 JBrowse link 17 17,456,031 17,489,989 RGD:9068941
G MFN2 mitofusin 2 JBrowse link 1 11,945,849 11,981,077 RGD:9068941
G