FTP Download
Chinchilla Research Resource Database
   
Keyword
  

ONTOLOGY REPORT - ANNOTATIONS


Term:connective tissue disease
go back to main search page
Accession:DOID:65 term browser browse the term
Definition:A heterogeneous group of disorders, some hereditary, others acquired, characterized by abnormal structure or function of one or more of the elements of connective tissue, i.e., collagen, elastin, or the mucopolysaccharides.
Synonyms:exact_synonym: connective tissue diseases;   connective tissue disorder;   disorder of connective tissue
 primary_id: MESH:D003240
 alt_id: RDO:0001278
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
connective tissue disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acta2 actin, alpha 2, smooth muscle, aorta JBrowse link 1 252,537,614 252,550,394 RGD:8554872
G Ltf lactotransferrin JBrowse link 8 119,290,416 119,313,261 RGD:7243945
G Slc39a13 solute carrier family 39 member 13 JBrowse link 3 79,884,524 79,892,664 RGD:11554173
G Snrpa small nuclear ribonucleoprotein polypeptide A JBrowse link 1 83,999,670 84,008,429 RGD:10448928
G Snrpa1 small nuclear ribonucleoprotein polypeptide A' JBrowse link 1 126,961,389 126,974,453 RGD:10448928
G Snrpb2 small nuclear ribonucleoprotein polypeptide B2 JBrowse link 3 137,138,082 137,147,575 RGD:10448928
G Snrpc small nuclear ribonucleoprotein polypeptide C JBrowse link 20 7,409,401 7,427,581 RGD:10448928
G Snrpd1 small nuclear ribonucleoprotein D1 polypeptide JBrowse link 18 1,866,066 1,876,613 RGD:10755695
G Tpsab1 tryptase alpha/beta 1 JBrowse link 10 14,701,253 14,703,668 RGD:11554173
3-M syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc8 coiled-coil domain containing 8 JBrowse link 1 78,933,372 78,936,700 RGD:13592920
G Cul7 cullin 7 JBrowse link 9 16,629,491 16,643,527 RGD:7240710
RGD:8554872
G Obsl1 obscurin-like 1 JBrowse link 9 82,673,871 82,699,577 RGD:8554872
RGD:13592920
3MC syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adipoq adiponectin, C1Q and collagen domain containing JBrowse link 11 81,330,845 81,344,488 RGD:8554872
G Ahsg alpha-2-HS-glycoprotein JBrowse link 11 81,711,269 81,717,594 RGD:8554872
G Colec11 collectin sub-family member 11 JBrowse link 6 47,857,767 47,889,961 RGD:11554173
G Crygs crystallin, gamma S JBrowse link 11 81,796,891 81,802,172 RGD:8554872
G Dnajb11 DnaJ heat shock protein family (Hsp40) member B11 JBrowse link 11 81,741,342 81,757,806 RGD:8554872
G Eif4a2 eukaryotic translation initiation factor 4A2 JBrowse link 11 81,373,047 81,379,680 RGD:8554872
G Fetub fetuin B JBrowse link 11 81,648,890 81,660,472 RGD:8554872
G Hrg histidine-rich glycoprotein JBrowse link 11 81,621,274 81,639,938 RGD:8554872
G Kng2 kininogen 2 JBrowse link 11 81,509,185 81,516,759 RGD:8554872
G Masp1 mannan-binding lectin serine peptidase 1 JBrowse link 11 80,736,424 80,806,278 RGD:7240710
RGD:8554872
RGD:11554173
G Rfc4 replication factor C subunit 4 JBrowse link 11 81,358,592 81,373,044 RGD:8554872
G Rpl39l ribosomal protein L39-like JBrowse link 10 5,529,580 5,533,695 RGD:8554872
G Rtp1 receptor (chemosensory) transporter protein 1 JBrowse link 11 80,823,989 80,826,505 RGD:8554872
G St6gal1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 JBrowse link 11 80,927,601 80,981,424 RGD:8554872
G Tbccd1 TBCC domain containing 1 JBrowse link 11 81,757,963 81,794,367 RGD:8554872
Aarskog syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgd1 FYVE, RhoGEF and PH domain containing 1 JBrowse link X 20,100,942 20,143,871 RGD:7240710
RGD:8554872
RGD:11554173
RGD:11554031
RGD:11554030
RGD:11554029
RGD:11554024
G Tsr2 TSR2, ribosome maturation factor JBrowse link X 20,141,406 20,146,082 RGD:8554872
acheiropody term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmbr1 limb development membrane protein 1 JBrowse link 4 2,116,094 2,274,111 RGD:7240710
RGD:8554872
G Lss lanosterol synthase JBrowse link 20 12,844,522 12,870,474 RGD:7240710
achondrogenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc26a2 solute carrier family 26 member 2 JBrowse link 18 56,518,999 56,534,539 RGD:8554872
G Trip11 thyroid hormone receptor interactor 11 JBrowse link 6 125,741,520 125,812,926 RGD:8554872
achondrogenesis type IA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trip11 thyroid hormone receptor interactor 11 JBrowse link 6 125,741,520 125,812,926 RGD:7240710
RGD:8554872
achondrogenesis type IB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc26a2 solute carrier family 26 member 2 JBrowse link 18 56,518,999 56,534,539 RGD:7240710
RGD:8554872
RGD:11068488
achondrogenesis type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:7240710
RGD:8554872
RGD:11554173
achondroplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acan aggrecan JBrowse link 1 140,762,758 140,824,441 RGD:13592920
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:1598937
RGD:8554872
RGD:11568054
RGD:7240710
G Npr2 natriuretic peptide receptor 2 JBrowse link 5 59,128,186 59,147,321 RGD:1580771
RGD:13592920
G Pthlh parathyroid hormone-like hormone JBrowse link 4 181,663,425 181,674,181 RGD:13592920
G Spred2 sprouty-related, EVH1 domain containing 2 JBrowse link 14 104,268,362 104,290,206 RGD:13592920
Achondroplastic Dwarfism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:8554872
Acro-Osteolysis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:12880041
G Zmpste24 zinc metallopeptidase STE24 JBrowse link 5 139,982,404 140,015,541 RGD:11554173
acrocapitofemoral dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ihh Indian hedgehog JBrowse link 9 82,208,223 82,214,440 RGD:1600033
RGD:8554872
RGD:7240710
Acrocephalopolysyndactyly Type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Megf8 multiple EGF-like-domains 8 JBrowse link 1 82,184,671 82,234,045 RGD:11554173
G Rab23 RAB23, member RAS oncogene family JBrowse link 9 38,469,784 38,496,185 RGD:7240710
RGD:8554872
acrocephalosyndactylia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:11567243
RGD:11567271
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:7240710
RGD:8554872
RGD:12801488
RGD:12801475
RGD:12801474
RGD:12801413
RGD:11554173
RGD:8547743
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:8554872
G Twist1 twist family bHLH transcription factor 1 JBrowse link 6 53,401,241 53,403,235 RGD:1624353
RGD:8554872
RGD:11554173
RGD:7240710
acrodysostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam20a FAM20A, golgi associated secretory pathway pseudokinase JBrowse link 10 97,962,467 98,017,171 RGD:8554872
G Pde4d phosphodiesterase 4D JBrowse link 2 40,219,999 41,468,551 RGD:8554872
RGD:11554173
G Prkar1a protein kinase cAMP-dependent type 1 regulatory subunit alpha JBrowse link 10 97,940,705 97,959,199 RGD:8554872
RGD:11554173
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 10 97,962,467 98,017,171 RGD:8554872
G Prkar1a protein kinase cAMP-dependent type 1 regulatory subunit alpha JBrowse link 10 97,940,705 97,959,199 RGD:7240710
RGD:8554872
Acrodysostosis 2, with or without Hormone Resistance term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pde4d phosphodiesterase 4D JBrowse link 2 40,219,999 41,468,551 RGD:7240710
RGD:8554872
acrofacial dysostosis Cincinnati type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polr1a RNA polymerase I subunit A JBrowse link 4 99,822,964 99,903,969 RGD:7240710
RGD:8554872
acromegaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gh1 growth hormone 1 JBrowse link 10 94,486,204 94,488,181 RGD:11554173
G Gnas GNAS complex locus JBrowse link 3 172,374,957 172,434,988 RGD:11554173
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:11554173
acromelic frontonasal dysostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zswim6 zinc finger, SWIM-type containing 6 JBrowse link 2 38,978,042 39,042,886 RGD:7240710
RGD:8554872
acromesomelic dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:8554872
G Npr2 natriuretic peptide receptor 2 JBrowse link 5 59,128,186 59,147,321 RGD:8554872
G Spag8 sperm associated antigen 8 JBrowse link 5 59,147,412 59,149,625 RGD:8554872
acromesomelic dysplasia, Grebe type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:8554872
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:7240710
RGD:12487346
RGD:12437083
RGD:12437075
RGD:8554872
acromesomelic dysplasia, Hunter-Thompson type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:7240710
RGD:8554872
acromesomelic dysplasia, Maroteaux type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Npr2 natriuretic peptide receptor 2 JBrowse link 5 59,128,186 59,147,321 RGD:7240710
RGD:8554872
G Spag8 sperm associated antigen 8 JBrowse link 5 59,147,412 59,149,625 RGD:8554872
Acromicric Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamtsl2 ADAMTS-like 2 JBrowse link 3 5,624,473 5,654,890 RGD:11554173
RGD:8554872
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:7240710
RGD:8554872
G Smad2 SMAD family member 2 JBrowse link 18 72,550,107 72,612,078 RGD:11554173
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11554173
adult-onset Still's disease 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:8548659
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:8548659
AIDS-Related Kaposi Sarcoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcl2 BCL2, apoptosis regulator JBrowse link 13 26,605,426 26,769,374 RGD:11554173
Alazami Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Larp7 La ribonucleoprotein domain family, member 7 JBrowse link 2 231,866,888 231,882,002 RGD:7240710
RGD:8554872
Albright's hereditary osteodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnas GNAS complex locus JBrowse link 3 172,374,957 172,434,988 RGD:7240710
RGD:8554872
RGD:11568049
RGD:11568047
RGD:11554173
G Pthlh parathyroid hormone-like hormone JBrowse link 4 181,663,425 181,674,181 RGD:13592920
Alport syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a3 collagen type IV alpha 3 chain JBrowse link 9 88,357,528 88,484,735 RGD:1600924
RGD:8554872
RGD:11554173
G Col4a4 collagen type IV alpha 4 chain JBrowse link 9 88,314,763 88,357,183 RGD:8554872
G Col4a5 collagen type IV alpha 5 chain JBrowse link X 112,769,595 112,983,720 RGD:1600687
RGD:8554872
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:7175090
G Mmp12 matrix metallopeptidase 12 JBrowse link 8 5,594,717 5,616,494 RGD:7241212
G Mmp3 matrix metallopeptidase 3 JBrowse link 8 5,676,608 5,698,579 RGD:7241252
G Myh9 myosin, heavy chain 9 JBrowse link 7 118,740,005 118,792,507 RGD:11554173
G RT1-Db1 RT1 class II, locus Db1 JBrowse link 20 4,087,621 4,097,190 RGD:7365078
Alveolar Bone Loss term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alpl alkaline phosphatase, liver/bone/kidney JBrowse link 5 156,086,496 156,141,513 RGD:11554173
G Ccr2 C-C motif chemokine receptor 2 RGD:8661687
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:11049527
G Parp1 poly (ADP-ribose) polymerase 1 JBrowse link 13 98,857,255 98,889,444 RGD:10413909
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:11049527
G Tnfsf11 TNF superfamily member 11 JBrowse link 15 60,482,527 60,512,704 RGD:11554173
Amyopathic Dermatomyositis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RT1-Ba RT1 class II, locus Ba JBrowse link 20 4,066,133 4,070,726 RGD:5147790
RGD:8547569
RGD:5147796
Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lbr lamin B receptor JBrowse link 13 100,431,390 100,450,209 RGD:8554872
anauxetic dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pop1 POP1 homolog, ribonuclease P/MRP subunit JBrowse link 7 73,270,403 73,298,209 RGD:11554173
Anauxetic Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pop1 POP1 homolog, ribonuclease P/MRP subunit JBrowse link 7 73,270,403 73,298,209 RGD:8554872
Anetoderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eln elastin JBrowse link 12 24,978,478 25,021,864 RGD:9585766
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:7394827
Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ikbkg inhibitor of nuclear factor kappa B kinase subunit gamma JBrowse link X 156,254,187 156,280,046 RGD:7240710
RGD:8554872
ankylosing spondylitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:7829800
G Adipoq adiponectin, C1Q and collagen domain containing JBrowse link 11 81,330,845 81,344,488 RGD:5686891
G Ano6 anoctamin 6 JBrowse link 7 137,142,063 137,335,208 RGD:9684849
RGD:11554173
G Antxr2 ANTXR cell adhesion molecule 2 JBrowse link 14 13,191,716 13,331,286 RGD:11554173
G Aspn asporin JBrowse link 17 14,655,958 14,681,355 RGD:9684964
G Card9 caspase recruitment domain family, member 9 JBrowse link 3 3,798,346 3,806,841 RGD:11554173
G Crp C-reactive protein JBrowse link 13 91,080,448 91,081,358 RGD:6482308
RGD:9491788
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 JBrowse link 8 62,472,087 62,478,122 RGD:1581252
G Erap1 endoplasmic reticulum aminopeptidase 1 JBrowse link 2 1,410,877 1,449,734 RGD:11554173
G Fcgr3a Fc fragment of IgG receptor IIIa JBrowse link 13 89,385,775 89,396,047 RGD:5508388
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:10402573
G Il12b interleukin 12B JBrowse link 10 30,034,447 30,048,774 RGD:11554173
G Il17a interleukin 17A JBrowse link 9 26,841,299 26,844,786 RGD:9068448
G Il1r2 interleukin 1 receptor type 2 JBrowse link 9 46,840,646 46,881,241 RGD:11554173
G Il23r interleukin 23 receptor JBrowse link 4 98,203,788 98,306,729 RGD:8549549
RGD:11554173
RGD:8549630
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:12792209
G Irak1 interleukin-1 receptor-associated kinase 1 JBrowse link X 156,716,469 156,726,367 RGD:7495783
G Jak2 Janus kinase 2 JBrowse link 1 247,398,667 247,457,521 RGD:6483025
G Kdm5a lysine demethylase 5A JBrowse link 4 152,892,388 152,972,196 RGD:9588532
G Pgf placental growth factor JBrowse link 6 108,994,016 109,004,598 RGD:6483576
G Psmb9 proteasome subunit beta 9 JBrowse link 20 3,973,424 3,978,845 RGD:6483349
G Ptger4 prostaglandin E receptor 4 JBrowse link 2 54,951,625 54,966,470 RGD:6483530
RGD:11554173
G RT1-Ba RT1 class II, locus Ba JBrowse link 20 4,066,133 4,070,726 RGD:5147611
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:5147611
G RT1-CE13 RT1 class I, locus CE13 RGD:7364914
G RT1-Db1 RT1 class II, locus Db1 JBrowse link 20 4,087,621 4,097,190 RGD:5147611
G RT1-M5 RT1 class Ib, locus M5 JBrowse link 20 2,038,158 2,040,422 RGD:10755579
G Runx3 runt-related transcription factor 3 JBrowse link 5 153,507,093 153,531,137 RGD:11554173
G Tap1 transporter 1, ATP binding cassette subfamily B member JBrowse link 20 3,979,302 3,989,669 RGD:6482250
G Tap2 transporter 2, ATP binding cassette subfamily B member JBrowse link 20 3,995,544 4,009,587 RGD:6482250
G Tbkbp1 TBK1 binding protein 1 JBrowse link 10 85,071,058 85,085,596 RGD:11554173
G Thbd thrombomodulin JBrowse link 3 142,748,673 142,752,325 RGD:5684983
G Tlr4 toll-like receptor 4 JBrowse link 5 82,587,424 82,601,056 RGD:7794744
G Tlr5 toll-like receptor 5 JBrowse link 13 101,364,784 101,385,764 RGD:7794744
G Tnfrsf1b TNF receptor superfamily member 1B JBrowse link 5 163,136,390 163,167,299 RGD:5131280
G Vip vasoactive intestinal peptide JBrowse link 1 42,169,307 42,177,582 RGD:5685387
ankylosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:11554173
anthracosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Als2cr12 amyotrophic lateral sclerosis 2 chromosome region 12 JBrowse link 9 65,665,663 65,693,822 RGD:11554173
G Atp1a4 ATPase Na+/K+ transporting subunit alpha 4 JBrowse link 13 90,605,792 90,642,032 RGD:11554173
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:11554173
G Rbm26 RNA binding motif protein 26 JBrowse link 15 89,262,683 89,339,323 RGD:11554173
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:11554173
anti-basement membrane glomerulonephritis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agt angiotensinogen JBrowse link 19 57,321,594 57,333,460 RGD:5129185
RGD:11039051
G Agtr1a angiotensin II receptor, type 1a JBrowse link 17 35,907,102 35,958,136 RGD:5129185
G Bax BCL2 associated X, apoptosis regulator JBrowse link 1 101,451,801 101,457,207 RGD:1579984
G Bcl2 BCL2, apoptosis regulator JBrowse link 13 26,605,426 26,769,374 RGD:1579984
G Ccl17 C-C motif chemokine ligand 17 JBrowse link 19 10,619,220 10,620,671 RGD:4145614
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:2307059
RGD:4145614
RGD:6218988
G Ccl22 C-C motif chemokine ligand 22 JBrowse link 19 10,674,189 10,681,145 RGD:2306306
G Ccl4 C-C motif chemokine ligand 4 JBrowse link 10 70,870,926 70,886,357 RGD:2307059
G Ccl5 C-C motif chemokine ligand 5 JBrowse link 10 70,739,764 70,744,303 RGD:2307059
G Cd274 CD274 molecule JBrowse link 1 247,519,890 247,539,659 RGD:7248671
G Cd40 CD40 molecule JBrowse link 3 161,519,789 161,534,943 RGD:7248442
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:5508170
G Cd80 Cd80 molecule JBrowse link 11 64,815,201 64,855,293 RGD:6902936
G Cfb complement factor B JBrowse link 20 4,536,206 4,542,073 RGD:7242700
G Clu clusterin JBrowse link 15 42,626,612 42,665,858 RGD:9068422
G Csf1 colony stimulating factor 1 JBrowse link 2 210,522,370 210,550,546 RGD:7257569
G Csf1r colony stimulating factor 1 receptor JBrowse link 18 56,414,493 56,458,300 RGD:7257569
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 JBrowse link 9 67,699,397 67,706,068 RGD:6902936
RGD:11352257
G Cx3cl1 C-X3-C motif chemokine ligand 1 JBrowse link 19 10,644,267 10,654,861 RGD:4891946
G Cx3cr1 C-X3-C motif chemokine receptor 1 JBrowse link 8 128,740,756 128,754,514 RGD:4891946
G Cxcl12 C-X-C motif chemokine ligand 12 JBrowse link 4 149,261,044 149,273,891 RGD:2306579
G Dusp1 dual specificity phosphatase 1 JBrowse link 10 16,970,642 16,973,425 RGD:633769
G Fcgr3a Fc fragment of IgG receptor IIIa JBrowse link 13 89,385,775 89,396,047 RGD:5508400
RGD:5508403
G Gp6 glycoprotein VI JBrowse link 1 72,994,977 73,064,639 RGD:7242710
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:7365004
G Il17a interleukin 17A JBrowse link 9 26,841,299 26,844,786 RGD:7365004
G Il18 interleukin 18 JBrowse link 8 55,009,666 55,016,286 RGD:6893447
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:6893447
RGD:7401232
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:4145614
G Il4 interleukin 4 JBrowse link 10 38,963,979 38,969,531 RGD:2317673
RGD:2307059
G Itga4 integrin subunit alpha 4 JBrowse link 3 66,178,745 66,265,547 RGD:2308810
RGD:9698425
G Mapk14 mitogen activated protein kinase 14 JBrowse link 20 5,933,290 5,995,137 RGD:6218988
G Mapk8 mitogen-activated protein kinase 8 JBrowse link 16 9,620,854 9,709,342 RGD:6218988
G Mif macrophage migration inhibitory factor JBrowse link 20 13,715,219 13,732,980 RGD:1642011
G Mmp12 matrix metallopeptidase 12 JBrowse link 8 5,594,717 5,616,494 RGD:6218988
G Mmp14 matrix metallopeptidase 14 JBrowse link 15 33,074,441 33,083,666 RGD:2314954
G Nos2 nitric oxide synthase 2 JBrowse link 10 66,188,290 66,221,621 RGD:6218988
G Nppb natriuretic peptide B JBrowse link 5 164,796,176 164,797,538 RGD:7248605
G Pdcd1 programmed cell death 1 JBrowse link 9 101,305,742 101,319,937 RGD:7248671
G Ppara peroxisome proliferator activated receptor alpha JBrowse link 7 126,618,872 126,687,282 RGD:5563035
G Ptk2b protein tyrosine kinase 2 beta JBrowse link 15 42,827,306 42,947,796 RGD:729912
G Rapgef1 Rap guanine nucleotide exchange factor 1 JBrowse link 3 8,189,594 8,307,077 RGD:11534983
G RT1-Db1 RT1 class II, locus Db1 JBrowse link 20 4,087,621 4,097,190 RGD:5147561
G Selp selectin P JBrowse link 13 82,428,914 82,464,629 RGD:6218988
G Slc34a1 solute carrier family 34 member 1 JBrowse link 17 9,747,766 9,762,739 RGD:7242947
G Slit2 slit guidance ligand 2 JBrowse link 14 66,831,848 67,171,491 RGD:2316132
G Spp1 secreted phosphoprotein 1 JBrowse link 14 6,673,686 6,679,965 RGD:6903276
G Syk spleen associated tyrosine kinase JBrowse link 17 12,614,311 12,669,568 RGD:6218988
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:6218988
G Vcam1 vascular cell adhesion molecule 1 JBrowse link 2 219,071,193 219,090,931 RGD:7241232
G Xcl1 X-C motif chemokine ligand 1 JBrowse link 13 83,199,402 83,202,845 RGD:8693304
Antley-Bixler syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:11554173
RGD:8554872
RGD:12801485
G Por cytochrome p450 oxidoreductase JBrowse link 12 23,998,411 24,017,063 RGD:7240710
RGD:8554872
RGD:11554173
Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Por cytochrome p450 oxidoreductase JBrowse link 12 23,998,411 24,017,063 RGD:7240710
RGD:8554872
G Tmem120a transmembrane protein 120A JBrowse link 12 23,989,596 23,998,257 RGD:8554872
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 1 200,590,951 200,696,946 RGD:7240710
RGD:8554872
G Por cytochrome p450 oxidoreductase JBrowse link 12 23,998,411 24,017,063 RGD:11554173
arterial tortuosity syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acta2 actin, alpha 2, smooth muscle, aorta JBrowse link 1 252,537,614 252,550,394 RGD:8554872
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:8554872
G Mus81 MUS81 structure-specific endonuclease subunit JBrowse link 1 220,862,474 220,867,973 RGD:13592920
G Slc2a10 solute carrier family 2 member 10 JBrowse link 3 162,182,156 162,194,610 RGD:7240710
RGD:8554872
arthritis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankh ANKH inorganic pyrophosphate transport regulator JBrowse link 2 80,131,563 80,256,948 RGD:734569
G B2m beta-2 microglobulin JBrowse link 3 114,087,287 114,093,311 RGD:6482692
G Cd40 CD40 molecule JBrowse link 3 161,519,789 161,534,943 RGD:7248721
G Cd69 Cd69 molecule JBrowse link 4 163,041,147 163,049,065 RGD:11554173
G Cnr2 cannabinoid receptor 2 JBrowse link 5 154,242,010 154,268,126 RGD:2316223
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:11554173
G Copa coatomer protein complex subunit alpha JBrowse link 13 90,467,285 90,508,894 RGD:11554173
G Fcgr3a Fc fragment of IgG receptor IIIa JBrowse link 13 89,385,775 89,396,047 RGD:5508432
RGD:5508443
G Gc GC, vitamin D binding protein JBrowse link 14 20,267,023 20,302,577 RGD:5509918
G Hp haptoglobin JBrowse link 19 42,096,255 42,100,805 RGD:11554173
G Il23r interleukin 23 receptor JBrowse link 4 98,203,788 98,306,729 RGD:8549572
G Parp1 poly (ADP-ribose) polymerase 1 JBrowse link 13 98,857,255 98,889,444 RGD:1601085
G RT1-Ba RT1 class II, locus Ba JBrowse link 20 4,066,133 4,070,726 RGD:5147787
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:5147787
G RT1-CE13 RT1 class I, locus CE13 RGD:7364930
G RT1-M5 RT1 class Ib, locus M5 JBrowse link 20 2,038,158 2,040,422 RGD:7364930
G Sele selectin E JBrowse link 13 82,355,234 82,365,323 RGD:1580041
G Tlr4 toll-like receptor 4 JBrowse link 5 82,587,424 82,601,056 RGD:7777177
G Zfp36 zinc finger protein 36 JBrowse link 1 85,380,088 85,382,565 RGD:11554173
Arthritis, Gouty term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) JBrowse link 13 78,857,638 78,885,464 RGD:8554872
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:8547877
G Mmp3 matrix metallopeptidase 3 JBrowse link 8 5,676,608 5,698,579 RGD:7241254
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:8547877
G Pomc proopiomelanocortin JBrowse link 6 28,382,937 28,388,771 RGD:11554173
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 6 109,121,524 109,162,433 RGD:8554872
RGD:11554173
asbestosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arg1 arginase 1 JBrowse link 1 21,525,421 21,537,872 RGD:11554173
G Atf6 activating transcription factor 6 JBrowse link 13 89,053,457 89,242,531 RGD:11554173
G Cfd complement factor D JBrowse link 7 12,634,216 12,635,939 RGD:11554173
G Clca1 chloride channel accessory 1 JBrowse link 2 250,897,980 250,923,711 RGD:4145655
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 JBrowse link 1 213,511,892 213,522,195 RGD:4892076
G Ddit3 DNA-damage inducible transcript 3 JBrowse link 7 70,578,564 70,585,074 RGD:11554173
G Ephx1 epoxide hydrolase 1 JBrowse link 13 99,271,390 99,300,580 RGD:4889408
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:5490588
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:11554173
G Hspa5 heat shock protein family A member 5 JBrowse link 3 13,838,304 13,842,763 RGD:11554173
G Nlrp3 NLR family, pyrin domain containing 3 JBrowse link 10 45,884,324 45,918,290 RGD:11554173
G Nos2 nitric oxide synthase 2 JBrowse link 10 66,188,290 66,221,621 RGD:4891441
RGD:11554173
RGD:4891438
G Prdx1 peroxiredoxin 1 JBrowse link 5 135,536,413 135,551,986 RGD:11554173
G Prdx2 peroxiredoxin 2 JBrowse link 19 26,084,816 26,090,095 RGD:11554173
G Serpina1 serpin family A member 1 JBrowse link 6 127,610,241 127,632,265 RGD:11554173
G Spp1 secreted phosphoprotein 1 JBrowse link 14 6,673,686 6,679,965 RGD:11554173
G Tnc tenascin C JBrowse link 5 79,789,686 79,874,555 RGD:4889594
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:11554173
G Tpm4 tropomyosin 4 JBrowse link 16 19,385,810 19,399,851 RGD:11554173
asphyxiating thoracic dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep120 centrosomal protein 120 JBrowse link 18 48,658,495 48,720,570 RGD:11554173
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:8554872
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 8 5,217,054 5,436,969 RGD:11554173
RGD:8554872
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 JBrowse link 6 7,900,962 7,933,795 RGD:11554173
RGD:8554872
G Evc EvC ciliary complex subunit 1 JBrowse link 14 78,213,601 78,253,266 RGD:8554872
G Evc2 EvC ciliary complex subunit 2 JBrowse link 14 78,128,620 78,212,394 RGD:8554872
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:8554872
G Fuz fuzzy planar cell polarity protein JBrowse link 1 100,891,832 100,896,811 RGD:8554872
G Ift140 intraflagellar transport 140 JBrowse link 10 14,373,668 14,461,509 RGD:8554872
RGD:11554173
G Ift172 intraflagellar transport 172 JBrowse link 6 26,390,686 26,485,459 RGD:11554173
RGD:8554872
G Ift52 intraflagellar transport 52 JBrowse link 3 159,388,868 159,413,358 RGD:11554173
G Ift74 intraflagellar transport 74 JBrowse link 5 113,579,065 113,682,485 RGD:8554872
G Ift80 intraflagellar transport 80 JBrowse link 2 165,506,878 165,600,748 RGD:8554872
G LOC690035 similar to Protein KIAA0586 JBrowse link 6 93,562,775 93,667,857 RGD:11554173
G Matn3 matrilin 3 JBrowse link 6 34,071,428 34,091,048 RGD:8554872
G Nek1 NIMA-related kinase 1 JBrowse link 16 32,321,010 32,439,421 RGD:8554872
RGD:11554173
RGD:11069733
RGD:11072153
G Smarcad1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1` JBrowse link 4 95,884,020 95,945,248 RGD:13592920
G Tctex1d2 Tctex1 domain containing 2 JBrowse link 11 71,593,302 71,601,662 RGD:11554173
G Traf3ip1 TRAF3 interacting protein 1 JBrowse link 9 98,621,499 98,658,223 RGD:8554872
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:11554173
RGD:8554872
G Wdr34 WD repeat domain 34 JBrowse link 3 8,599,251 8,615,329 RGD:11554173
G Wdr35 WD repeat domain 35 JBrowse link 6 34,094,291 34,152,048 RGD:8554872
RGD:11554173
G Wdr60 WD repeat domain 60 JBrowse link 6 144,069,077 144,124,975 RGD:11554173
G Xpa XPA, DNA damage recognition and repair factor JBrowse link 5 61,749,767 61,793,641 RGD:8554872
asphyxiating thoracic dystrophy 1 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
G Evc2 EvC ciliary complex subunit 2 JBrowse link 14 78,128,620 78,212,394 RGD:8554872
G Fuz fuzzy planar cell polarity protein JBrowse link 1 100,891,832 100,896,811 RGD:8554872
G Ift140 intraflagellar transport 140 JBrowse link 10 14,373,668 14,461,509 RGD:8554872
RGD:13592920
G Ift43 intraflagellar transport 43 JBrowse link 6 109,939,323 110,016,646 RGD:8554872
G Ift52 intraflagellar transport 52 JBrowse link 3 159,388,868 159,413,358 RGD:8554872
G Ift74 intraflagellar transport 74 JBrowse link 5 113,579,065 113,682,485 RGD:8554872
G Ift80 intraflagellar transport 80 JBrowse link 2 165,506,878 165,600,748 RGD:8554872
G Ift88 intraflagellar transport 88 JBrowse link 15 37,690,417 37,786,855 RGD:8554872
G Intu inturned planar cell polarity protein JBrowse link 2 127,589,325 127,611,705 RGD:8554872
G Lbr lamin B receptor JBrowse link 13 100,431,390 100,450,209 RGD:8554872
G Nek1 NIMA-related kinase 1 JBrowse link 16 32,321,010 32,439,421 RGD:8554872
G RGD1304728 similar to 4933427D14Rik protein JBrowse link 10 58,726,721 58,776,718 RGD:8554872
G Smc4 structural maintenance of chromosomes 4 JBrowse link 2 165,600,934 165,629,415 RGD:8554872
G Traf3ip1 TRAF3 interacting protein 1 JBrowse link 9 98,621,499 98,658,223 RGD:8554872
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:8554872
RGD:11554173
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:8554872
G Wdr34 WD repeat domain 34 JBrowse link 3 8,599,251 8,615,329 RGD:8554872
G Wdr35 WD repeat domain 35 JBrowse link 6 34,094,291 34,152,048 RGD:8554872
G Wdr60 WD repeat domain 60 JBrowse link 6 144,069,077 144,124,975 RGD:8554872
asphyxiating thoracic dystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift80 intraflagellar transport 80 JBrowse link 2 165,506,878 165,600,748 RGD:7240710
RGD:8554872
asphyxiating thoracic dystrophy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bbs10 Bardet-Biedl syndrome 10 JBrowse link 7 54,030,229 54,034,354 RGD:8554872
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 8 5,217,054 5,436,969 RGD:8554872
RGD:7240710
G Fam98c family with sequence similarity 98, member C JBrowse link 1 88,095,240 88,098,828 RGD:8554872
G Ift80 intraflagellar transport 80 JBrowse link 2 165,506,878 165,600,748 RGD:13592920
G Nek1 NIMA-related kinase 1 JBrowse link 16 32,321,010 32,439,421 RGD:8554872
G Tctex1d2 Tctex1 domain containing 2 JBrowse link 11 71,593,302 71,601,662 RGD:8554872
G Tmem256 transmembrane protein 256 JBrowse link 10 56,446,022 56,447,138 RGD:8554872
G Wdr34 WD repeat domain 34 JBrowse link 3 8,599,251 8,615,329 RGD:8554872
G Wdr60 WD repeat domain 60 JBrowse link 6 144,069,077 144,124,975 RGD:8554872
G Xpa XPA, DNA damage recognition and repair factor JBrowse link 5 61,749,767 61,793,641 RGD:8554872
asphyxiating thoracic dystrophy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:7240710
RGD:8554872
asphyxiating thoracic dystrophy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:7240710
RGD:8554872
atelosteogenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flnb filamin B JBrowse link 15 18,750,152 18,883,019 RGD:13592920
G Slc26a2 solute carrier family 26 member 2 JBrowse link 18 56,518,999 56,534,539 RGD:8554872
RGD:13592920
Atelosteogenesis Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flnb filamin B JBrowse link 15 18,750,152 18,883,019 RGD:7240710
RGD:11554173
RGD:8554872
G Sct secretin JBrowse link 1 214,264,865 214,277,437 RGD:7240710
Atelosteogenesis Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc26a2 solute carrier family 26 member 2 JBrowse link 18 56,518,999 56,534,539 RGD:7240710
RGD:8554872
Atelosteogenesis Type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flnb filamin B JBrowse link 15 18,750,152 18,883,019 RGD:7240710
RGD:8554872
RGD:11554173
G Sct secretin JBrowse link 1 214,264,865 214,277,437 RGD:7240710
Atrial Myxoma, Familial term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prkar1a protein kinase cAMP-dependent type 1 regulatory subunit alpha JBrowse link 10 97,940,705 97,959,199 RGD:7240710
RGD:8554872
Au-Kline Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hnrnpk heterogeneous nuclear ribonucleoprotein K JBrowse link 17 6,664,730 6,676,753 RGD:7240710
RGD:8554872
AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Copa coatomer protein complex subunit alpha JBrowse link 13 90,467,285 90,508,894 RGD:7240710
RGD:8554872
AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nlrp1a NLR family, pyrin domain containing 1A JBrowse link 10 57,692,474 57,747,608 RGD:11554173
RGD:8554872
autosomal dominant Alport syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a3 collagen type IV alpha 3 chain JBrowse link 9 88,357,528 88,484,735 RGD:7240710
RGD:8554872
G Col4a4 collagen type IV alpha 4 chain JBrowse link 9 88,314,763 88,357,183 RGD:8554872
G Myh9 myosin, heavy chain 9 JBrowse link 7 118,740,005 118,792,507 RGD:6902925
Autosomal Dominant Craniometaphyseal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankh ANKH inorganic pyrophosphate transport regulator JBrowse link 2 80,131,563 80,256,948 RGD:734571
RGD:8554872
RGD:7240710
G Otulin OTU deubiquitinase with linear linkage specificity JBrowse link 2 80,267,724 80,293,204 RGD:8554872
autosomal dominant cutis laxa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 JBrowse link 1 259,641,673 259,674,521 RGD:11554173
G Eln elastin JBrowse link 12 24,978,478 25,021,864 RGD:8554872
RGD:11554173
G Fbln5 fibulin 5 JBrowse link 6 125,644,797 125,723,957 RGD:8554872
RGD:11554173
autosomal dominant cutis laxa 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eln elastin JBrowse link 12 24,978,478 25,021,864 RGD:8554872
RGD:7240710
G Fbln5 fibulin 5 JBrowse link 6 125,644,797 125,723,957 RGD:8554872
autosomal dominant cutis laxa 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbln5 fibulin 5 JBrowse link 6 125,644,797 125,723,957 RGD:7240710
RGD:8554872
autosomal dominant cutis laxa 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 JBrowse link 1 259,641,673 259,674,521 RGD:7240710
RGD:8554872
autosomal dominant dystrophic epidermolysis bullosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen type VII alpha 1 chain JBrowse link 8 117,694,441 117,726,844 RGD:7240710
RGD:8554872
autosomal dominant hypophosphatemic rickets term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf23 fibroblast growth factor 23 JBrowse link 4 159,622,404 159,630,082 RGD:1598933
RGD:8554872
RGD:10044239
RGD:7240710
autosomal dominant osteopetrosis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp5 LDL receptor related protein 5 JBrowse link 1 218,816,833 218,920,147 RGD:7240710
RGD:8554872
autosomal dominant osteopetrosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcn7 chloride voltage-gated channel 7 JBrowse link 10 14,492,844 14,518,167 RGD:7240710
RGD:8554872
autosomal dominant Robinow syndrome 1 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:13592920
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:7240710
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
G Dvl3 dishevelled segment polarity protein 3 JBrowse link 11 84,051,177 84,068,479 RGD:8554872
G Fzd2 frizzled class receptor 2 JBrowse link 10 90,550,147 90,552,057 RGD:8554872
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
RGD:13592920
G Fzd2 frizzled class receptor 2 JBrowse link 10 90,550,147 90,552,057 RGD:8554872
autosomal dominant type IV Ehlers-Danlos syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col3a1 collagen type III alpha 1 chain JBrowse link 9 52,023,295 52,059,221 RGD:7240710
autosomal recessive Alport syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccr1 C-C motif chemokine receptor 1 JBrowse link 8 132,996,646 133,002,201 RGD:5688157
G Col4a3 collagen type IV alpha 3 chain JBrowse link 9 88,357,528 88,484,735 RGD:7240710
RGD:8554872
G Col4a4 collagen type IV alpha 4 chain JBrowse link 9 88,314,763 88,357,183 RGD:7240710
RGD:8554872
G Col4a5 collagen type IV alpha 5 chain JBrowse link X 112,769,595 112,983,720 RGD:8554872
G Hras HRas proto-oncogene, GTPase JBrowse link 1 214,178,404 214,181,841 RGD:8554872
G Lrrc56 leucine rich repeat containing 56 JBrowse link 1 214,182,232 214,197,184 RGD:8554872
G Mpv17 MpV17 mitochondrial inner membrane protein JBrowse link 6 26,585,713 26,600,265 RGD:13592920
Autosomal Recessive Craniometaphyseal 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:7240710
RGD:8554872
autosomal recessive cutis laxa type IA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Efemp2 EGF containing fibulin extracellular matrix protein 2 JBrowse link 1 220,853,695 220,861,420 RGD:8554872
G Fbln5 fibulin 5 JBrowse link 6 125,644,797 125,723,957 RGD:7240710
RGD:8554872
G Mus81 MUS81 structure-specific endonuclease subunit JBrowse link 1 220,862,474 220,867,973 RGD:8554872
autosomal recessive cutis laxa type IB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Efemp2 EGF containing fibulin extracellular matrix protein 2 JBrowse link 1 220,853,695 220,861,420 RGD:7240710
RGD:8554872
G Mus81 MUS81 structure-specific endonuclease subunit JBrowse link 1 220,862,474 220,867,973 RGD:8554872
autosomal recessive cutis laxa type IC term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ltbp4 latent transforming growth factor beta binding protein 4 JBrowse link 1 84,118,046 84,152,095 RGD:7240710
RGD:8554872
autosomal recessive cutis laxa type IIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 JBrowse link 12 37,368,321 37,398,233 RGD:7240710
RGD:8554872
autosomal recessive cutis laxa type IIB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pycr1 pyrroline-5-carboxylate reductase 1 JBrowse link 10 109,817,300 109,822,218 RGD:7240710
RGD:8554872
autosomal recessive cutis laxa type IIC term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6v1e1 ATPase H+ transporting V1 subunit E1 JBrowse link 4 153,351,434 153,373,558 RGD:8554872
RGD:11554173
autosomal recessive cutis laxa type IID term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6v1a ATPase H+ transporting V1 subunit A JBrowse link 11 61,531,386 61,584,634 RGD:8554872
RGD:11554173
autosomal recessive cutis laxa type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 JBrowse link 1 259,641,673 259,674,521 RGD:8554872
RGD:13434923
RGD:13434922
autosomal recessive cutis laxa type IIIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 JBrowse link 1 259,641,673 259,674,521 RGD:13439710
RGD:8554872
RGD:7240710
autosomal recessive cutis laxa type IIIB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pycr1 pyrroline-5-carboxylate reductase 1 JBrowse link 10 109,817,300 109,822,218 RGD:7240710
RGD:8554872
autosomal recessive hypophosphatemic rickets term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmp1 dentin matrix acidic phosphoprotein 1 JBrowse link 14 6,889,851 6,923,961 RGD:8554872
RGD:13592920
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 JBrowse link 1 21,748,201 21,813,205 RGD:8554872
RGD:13592920
autosomal recessive osteopetrosis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 JBrowse link 1 219,126,687 219,139,466 RGD:1599350
RGD:8554872
RGD:7240710
autosomal recessive osteopetrosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnfsf11 TNF superfamily member 11 JBrowse link 15 60,482,527 60,512,704 RGD:7240710
RGD:8554872
autosomal recessive osteopetrosis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Car2 carbonic anhydrase 2 JBrowse link 2 88,097,740 88,112,868 RGD:7240710
RGD:8554872
autosomal recessive osteopetrosis 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcn7 chloride voltage-gated channel 7 JBrowse link 10 14,492,844 14,518,167 RGD:7240710
RGD:8554872
autosomal recessive osteopetrosis 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ostm1 osteopetrosis associated transmembrane protein 1 JBrowse link 20 47,394,979 47,430,304 RGD:7240710
RGD:8554872
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 10 91,451,890 91,500,675 RGD:7240710
RGD:8554872
autosomal recessive osteopetrosis 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnfrsf11a TNF receptor superfamily member 11A JBrowse link 13 25,778,306 25,835,802 RGD:7240710
RGD:8554872
autosomal recessive osteopetrosis 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Snx10 sorting nexin 10 JBrowse link 4 81,311,490 81,375,248 RGD:7240710
RGD:8554872
autosomal recessive Robinow syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prickle1 prickle planar cell polarity protein 1 JBrowse link 7 134,702,964 134,799,437 RGD:13592920
G Ror2 receptor tyrosine kinase-like orphan receptor 2 JBrowse link 17 11,953,552 12,134,386 RGD:7240710
RGD:8554872
RGD:11554173
RGD:11537348
RGD:11537347
RGD:11535948
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 7 126,096,793 126,176,468 RGD:8554872
Baller-Gerold syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Recql4 RecQ like helicase 4 JBrowse link 7 117,765,892 117,773,128 RGD:7240710
RGD:8554872
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
Basel-Vanagaite-Smirin-Yosef syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med25 mediator complex subunit 25 JBrowse link 1 100,872,240 100,887,864 RGD:8554872
RGD:7240710
Beare-Stevenson cutis gyrata syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:7240710
RGD:8554872
Beemer-Langer 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
G Evc2 EvC ciliary complex subunit 2 JBrowse link 14 78,128,620 78,212,394 RGD:8554872
G Ift80 intraflagellar transport 80 JBrowse link 2 165,506,878 165,600,748 RGD:8554872
G Nek1 NIMA-related kinase 1 JBrowse link 16 32,321,010 32,439,421 RGD:8554872
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:8554872
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:8554872
Bent Bone Dysplasia Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:7240710
RGD:8554872
RGD:12801468
berylliosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:11554173
G Btnl2 butyrophilin-like 2 JBrowse link 20 4,140,184 4,156,365 RGD:9685029
RGD:11554173
G Ccr5 C-C motif chemokine receptor 5 JBrowse link 8 133,192,398 133,215,599 RGD:4892065
G Cd28 Cd28 molecule JBrowse link 9 67,546,408 67,573,858 RGD:11554173
G Gclm glutamate cysteine ligase, modifier subunit JBrowse link 2 225,827,504 225,847,876 RGD:11554173
G Hmox1 heme oxygenase 1 JBrowse link 19 14,508,634 14,515,455 RGD:4145349
G Il2ra interleukin 2 receptor subunit alpha JBrowse link 17 70,500,672 70,547,929 RGD:11554173
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:11554173
G RT1-B RT1 class II, locus B RGD:11554173
G RT1-Db1 RT1 class II, locus Db1 JBrowse link 20 4,087,621 4,097,190 RGD:11554173
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:4145294
RGD:11554173
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:11554173
bird fancier's lung term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Muc1 mucin 1, cell surface associated JBrowse link 2 188,543,137 188,547,874 RGD:5131172
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 10 82,745,801 82,762,790 RGD:11041182
Blau syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nod2 nucleotide-binding oligomerization domain containing 2 JBrowse link 19 19,342,061 19,389,366 RGD:7240710
RGD:8554872
RGD:11554173
RGD:8547518
RGD:8547515
RGD:8158051
RGD:8158040
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
Bohring Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Asxl1 ASXL transcriptional regulator 1 JBrowse link 3 148,832,231 148,902,356 RGD:7240710
RGD:8554872
RGD:11554173
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 3 10,041,820 10,145,076 RGD:11554173
G Aff4 AF4/FMR2 family, member 4 JBrowse link 10 38,692,167 38,773,021 RGD:11554173
G Alpl alkaline phosphatase, liver/bone/kidney JBrowse link 5 156,086,496 156,141,513 RGD:8554872
G Ank1 ankyrin 1 JBrowse link 16 73,681,422 73,912,605 RGD:11554173
G Bmpr1b bone morphogenetic protein receptor type 1B JBrowse link 2 247,392,195 247,662,026 RGD:11554173
G Cbfb core-binding factor subunit beta JBrowse link 19 37,127,508 37,171,075 RGD:11554173
G Chrng cholinergic receptor nicotinic gamma subunit JBrowse link 9 94,302,218 94,308,591 RGD:11554173
G Chst3 carbohydrate sulfotransferase 3 JBrowse link 20 29,731,828 29,768,656 RGD:8554872
G Chuk conserved helix-loop-helix ubiquitous kinase JBrowse link 1 263,848,829 263,884,354 RGD:11554173
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:8554872
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:8554872
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:8554872
G Col5a1 collagen type V alpha 1 chain JBrowse link 3 6,430,180 6,581,010 RGD:8554872
G Dlx5 distal-less homeobox 5 JBrowse link 4 32,387,741 32,392,085 RGD:11554173
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:8554872
G Flnb filamin B JBrowse link 15 18,750,152 18,883,019 RGD:1601168
RGD:1601170
G Glb1 galactosidase, beta 1 JBrowse link 8 122,439,328 122,511,939 RGD:11554173
G Hoxd11 homeobox D11 JBrowse link 3 61,604,256 61,606,874 RGD:11554173
G Ift80 intraflagellar transport 80 JBrowse link 2 165,506,878 165,600,748 RGD:11554173
G Igf2 insulin-like growth factor 2 JBrowse link 1 215,828,102 215,839,081 RGD:11554173
G Itgb1bp1 integrin subunit beta 1 binding protein 1 JBrowse link 6 43,348,927 43,363,633 RGD:11554173
G Kif3a kinesin family member 3a JBrowse link 10 38,918,705 38,953,958 RGD:11554173
G Nans N-acetylneuraminate synthase JBrowse link 5 62,109,352 62,126,492 RGD:11554173
G Nipbl NIPBL, cohesin loading factor JBrowse link 2 57,508,830 57,676,197 RGD:11554173
G Nppc natriuretic peptide C JBrowse link 9 93,731,436 93,735,636 RGD:11554173
G Npr2 natriuretic peptide receptor 2 JBrowse link 5 59,128,186 59,147,321 RGD:13592920
G Pcsk5 proprotein convertase subtilisin/kexin type 5 JBrowse link 1 236,031,988 236,313,858 RGD:11554173
G Rps6ka3 ribosomal protein S6 kinase A3 JBrowse link X 37,469,736 37,576,055 RGD:11554173
G Sh3pxd2b SH3 and PX domains 2B JBrowse link 10 17,209,152 17,296,449 RGD:11554173
G Slc26a2 solute carrier family 26 member 2 JBrowse link 18 56,518,999 56,534,539 RGD:11554173
G Slc34a1 solute carrier family 34 member 1 JBrowse link 17 9,747,766 9,762,739 RGD:11554173
G Tgfb2 transforming growth factor, beta 2 JBrowse link 13 105,039,639 105,142,010 RGD:11554173
G Tmco1 transmembrane and coiled-coil domains 1 JBrowse link 13 85,465,015 85,559,113 RGD:11554173
G Tnfrsf11a TNF receptor superfamily member 11A JBrowse link 13 25,778,306 25,835,802 RGD:1599463
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:11554173
G Trps1 transcriptional repressor GATA binding 1 JBrowse link 7 90,085,895 90,320,430 RGD:11554173
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:8554872
G Zic3 Zic family member 3 JBrowse link X 140,875,191 140,888,344 RGD:11554173
bone disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh7a1 aldehyde dehydrogenase 7 family, member A1 JBrowse link 18 51,619,007 51,651,267 RGD:11554173
G Bmp2 bone morphogenetic protein 2 JBrowse link 3 126,335,963 126,346,771 RGD:11554173
G Col11a1 collagen type XI alpha 1 chain JBrowse link 2 216,863,423 217,056,523 RGD:1600881
G Ctgf connective tissue growth factor JBrowse link 1 21,851,657 21,854,773 RGD:632527
G Ephx1 epoxide hydrolase 1 JBrowse link 13 99,271,390 99,300,580 RGD:11252112
G Esr1 estrogen receptor 1 JBrowse link 1 41,192,029 41,594,799 RGD:11554173
G Fgf2 fibroblast growth factor 2 JBrowse link 2 124,081,072 124,134,133 RGD:2315858
G Jag1 jagged 1 JBrowse link 3 130,079,361 130,114,781 RGD:11554173
G Ltbp3 latent transforming growth factor beta binding protein 3 JBrowse link 1 221,099,155 221,116,096 RGD:11554173
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:11554173
G Pon1 paraoxonase 1 JBrowse link 4 30,249,749 30,276,297 RGD:11552587
G Slc39a13 solute carrier family 39 member 13 JBrowse link 3 79,884,524 79,892,664 RGD:11554173
G Tgfbr2 transforming growth factor, beta receptor 2 JBrowse link 8 124,310,288 124,399,345 RGD:11554173
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:11554173
Bone Fragility with Contractures, Arterial Rupture, and Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plod3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 JBrowse link 12 22,716,421 22,726,982 RGD:7240710
RGD:8554872
bone giant cell tumor term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G H3f3a H3 histone family member 3A JBrowse link 13 99,091,246 99,102,828 RGD:11554173
Bone Mineral Density Quantitative Trait Locus 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbxo33 F-box protein 33 JBrowse link 6 80,302,291 80,334,536 RGD:7240710
G Ugt2b17 UDP glucuronosyltransferase family 2 member B17 JBrowse link 14 22,724,399 22,736,148 RGD:7240710
RGD:8554872
Bone Mineral Density Quantitative Trait Locus 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Calcr calcitonin receptor JBrowse link 4 28,627,439 28,702,559 RGD:8554872
G Cdk9 cyclin-dependent kinase 9 JBrowse link 3 11,742,269 11,747,117 RGD:8554872
G Pdlim4 PDZ and LIM domain 4 JBrowse link 10 39,390,578 39,405,322 RGD:8554872
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lgr4 leucine-rich repeat-containing G protein-coupled receptor 4 JBrowse link 3 101,051,960 101,152,119 RGD:7240710
RGD:8554872
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Htr2c 5-hydroxytryptamine receptor 2C JBrowse link X 118,084,520 118,318,040 RGD:8554872
G Il13ra2 interleukin 13 receptor subunit alpha 2 JBrowse link X 118,443,955 118,514,716 RGD:8554872
G Lrch2 leucine rich repeats and calponin homology domain containing 2 JBrowse link X 118,532,396 118,615,845 RGD:8554872
G Luzp4 leucine zipper protein 4 JBrowse link X 118,725,749 118,766,413 RGD:8554872
G Mir448 microRNA 448 JBrowse link X 118,277,684 118,277,795 RGD:8554872
G Pls3 plastin 3 JBrowse link X 119,030,311 119,124,268 RGD:7240710
RGD:8554872
Bone Neoplasms term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bap1 Brca1 associated protein 1 JBrowse link 16 7,336,685 7,345,511 RGD:11554173
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:11554173
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:11554173
G Ncoa3 nuclear receptor coactivator 3 JBrowse link 3 162,692,176 162,788,582 RGD:11554173
G Plau plasminogen activator, urokinase JBrowse link 15 3,644,296 3,650,765 RGD:11554173
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 JBrowse link 8 99,977,334 100,059,736 RGD:11554173
G Ptgs2 prostaglandin-endoperoxide synthase 2 JBrowse link 13 67,351,230 67,356,920 RGD:11554173
G Tgfbr2 transforming growth factor, beta receptor 2 JBrowse link 8 124,310,288 124,399,345 RGD:11554173
bone resorption disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahr aryl hydrocarbon receptor JBrowse link 6 54,963,990 55,001,806 RGD:11554173
G Bmp7 bone morphogenetic protein 7 JBrowse link 3 170,879,972 170,955,820 RGD:11554173
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:11554173
G Cxcl2 C-X-C motif chemokine ligand 2 JBrowse link 14 18,731,346 18,733,391 RGD:11554173
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 JBrowse link 8 58,744,849 58,772,408 RGD:11554173
G Pth parathyroid hormone JBrowse link 1 178,215,829 178,218,761 RGD:11554173
G Pthlh parathyroid hormone-like hormone JBrowse link 4 181,663,425 181,674,181 RGD:11554173
G Tnfrsf11b TNF receptor superfamily member 11B JBrowse link 7 93,798,580 93,826,586 RGD:11554173
bone structure disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Postn periostin JBrowse link 2 143,656,820 143,688,087 RGD:13592920
G Qrfpr pyroglutamylated RFamide peptide receptor JBrowse link 2 122,891,321 122,949,241 RGD:13592920
Boomerang dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flnb filamin B JBrowse link 15 18,750,152 18,883,019 RGD:7240710
RGD:8554872
G Sct secretin JBrowse link 1 214,264,865 214,277,437 RGD:7240710
Borrone Di Rocco Crovato Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sh3pxd2b SH3 and PX domains 2B JBrowse link 10 17,209,152 17,296,449 RGD:8554872
Brachioskeletogenital Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh11 cadherin 11 JBrowse link 19 2,391,181 2,551,245 RGD:8554872
Brachycephaly, Trichomegaly, and Developmental Delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rps23 ribosomal protein S23 JBrowse link 2 19,823,234 19,824,804 RGD:8554872
RGD:11554173
brachydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atrx ATRX, chromatin remodeler JBrowse link X 76,820,110 76,979,155 RGD:9586033
G Bmpr1b bone morphogenetic protein receptor type 1B JBrowse link 2 247,392,195 247,662,026 RGD:8554872
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:8554872
G Gnas GNAS complex locus JBrowse link 3 172,374,957 172,434,988 RGD:11554173
RGD:8554872
G Hdac4 histone deacetylase 4 JBrowse link 9 99,052,945 99,299,715 RGD:11554173
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:12743593
G Ihh Indian hedgehog JBrowse link 9 82,208,223 82,214,440 RGD:8554872
G Nipbl NIPBL, cohesin loading factor JBrowse link 2 57,508,830 57,676,197 RGD:8554872
G Ror2 receptor tyrosine kinase-like orphan receptor 2 JBrowse link 17 11,953,552 12,134,386 RGD:8554872
G Slc26a2 solute carrier family 26 member 2 JBrowse link 18 56,518,999 56,534,539 RGD:11072411
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:11554173
G Trps1 transcriptional repressor GATA binding 1 JBrowse link 7 90,085,895 90,320,430 RGD:8554872
brachydactyly type A1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:12437076
G Ihh Indian hedgehog JBrowse link 9 82,208,223 82,214,440 RGD:1600032
RGD:12910974
RGD:11535949
RGD:12910970
RGD:12910965
RGD:12910964
RGD:12910945
RGD:12910944
RGD:8554872
RGD:7240710
G Shh sonic hedgehog JBrowse link 4 718,538 727,691 RGD:12798572
RGD:13592920
brachydactyly type A1C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:7240710
RGD:8554872
brachydactyly type A1D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmpr1b bone morphogenetic protein receptor type 1B JBrowse link 2 247,392,195 247,662,026 RGD:11554173
RGD:8554872
brachydactyly type A2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp2 bone morphogenetic protein 2 JBrowse link 3 126,335,963 126,346,771 RGD:7240710
RGD:8554872
G Bmpr1b bone morphogenetic protein receptor type 1B JBrowse link 2 247,392,195 247,662,026 RGD:7240710
RGD:8554872
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:7240710
RGD:8554872
brachydactyly type A4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:12738470
brachydactyly type B1 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:7240710
RGD:8554872
RGD:11537345
RGD:11535953
RGD:11535952
RGD:11535951
RGD:11535949
brachydactyly type B2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nog noggin JBrowse link 10 76,811,759 76,813,386 RGD:7240710
RGD:12801483
RGD:12801481
RGD:8554872
brachydactyly type C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:7240710
RGD:12738202
RGD:12738200
RGD:12437083
RGD:8554872
brachydactyly type D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:7240710
RGD:11554173
RGD:8554872
brachydactyly type E1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:7240710
RGD:8554872
RGD:11554173
brachydactyly type E2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pthlh parathyroid hormone-like hormone JBrowse link 4 181,663,425 181,674,181 RGD:7240710
RGD:8554872
Brachydactyly with Hypertension term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pde3a phosphodiesterase 3A JBrowse link 4 175,431,904 175,703,844 RGD:7240710
RGD:11554173
RGD:8554872
Brachydactyly, Type E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hdac4 histone deacetylase 4 JBrowse link 9 99,052,945 99,299,715 RGD:11554173
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:12743596
brachydactyly-syndactyly syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:7240710
RGD:8554872
RGD:11554173
brachyolmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ltbp3 latent transforming growth factor beta binding protein 3 JBrowse link 1 221,099,155 221,116,096 RGD:11554173
G Papss2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 JBrowse link 1 251,145,264 251,230,716 RGD:8554872
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:8554872
RGD:13592920
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 47,698,915 47,737,902 RGD:8554872
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 47,698,915 47,737,902 RGD:7240710
RGD:8554872
brachyolmia-amelogenesis imperfecta syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ltbp2 latent transforming growth factor beta binding protein 2 JBrowse link 6 108,500,114 108,596,653 RGD:7240710
G Ltbp3 latent transforming growth factor beta binding protein 3 JBrowse link 1 221,099,155 221,116,096 RGD:7240710
RGD:8554872
Brachytelephalangic Chondrodysplasia Punctata term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arse arylsulfatase E JBrowse link 2 122,876,645 122,884,673 RGD:7240710
RGD:8554872
RGD:11554173
Brain-Lung-Thyroid Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nkx2-1 NK2 homeobox 1 JBrowse link 6 77,418,096 77,423,383 RGD:7240710
RGD:8554872
RGD:12914770
RGD:11073166
RGD:12914769
RGD:12914768
G Ttf1 transcription termination factor 1 JBrowse link 3 7,635,630 7,660,153 RGD:7240710
brittle cornea syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:13592920
G Zfp469 zinc finger protein 469 JBrowse link 19 54,843,864 55,083,935 RGD:13592920
Brittle Cornea Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst14 carbohydrate sulfotransferase 14 JBrowse link 3 110,734,105 110,736,162 RGD:8554872
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:8554872
G Zfp469 zinc finger protein 469 JBrowse link 19 54,843,864 55,083,935 RGD:7240710
RGD:8554872
RGD:11554173
Brittle Cornea Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:7240710
RGD:8554872
bronchiolitis obliterans term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:4140933
G Adora2a adenosine A2a receptor JBrowse link 20 14,265,251 14,282,873 RGD:4890362
G Ccl17 C-C motif chemokine ligand 17 JBrowse link 19 10,619,220 10,620,671 RGD:4145604
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:2307195
G Ccl22 C-C motif chemokine ligand 22 JBrowse link 19 10,674,189 10,681,145 RGD:4891471
G Ccl5 C-C motif chemokine ligand 5 JBrowse link 10 70,739,764 70,744,303 RGD:4889978
RGD:2307195
G Ccl7 C-C motif chemokine ligand 7 JBrowse link 10 69,423,083 69,424,933 RGD:6483763
G Ccr2 C-C motif chemokine receptor 2 RGD:4145124
G Cd86 CD86 molecule JBrowse link 11 67,060,305 67,117,990 RGD:2307206
G Csf2 colony stimulating factor 2 JBrowse link 10 39,602,089 39,604,070 RGD:2317286
G Cxcl10 C-X-C motif chemokine ligand 10 JBrowse link 14 17,210,733 17,212,930 RGD:5135441
RGD:5135451
G Cxcl11 C-X-C motif chemokine ligand 11 JBrowse link 14 17,195,395 17,198,170 RGD:5135451
G Cxcl9 C-X-C motif chemokine ligand 9 JBrowse link 14 17,228,832 17,233,743 RGD:5135441
RGD:5135451
G Cxcr3 C-X-C motif chemokine receptor 3 JBrowse link X 71,614,346 71,616,997 RGD:5135441
RGD:5135451
G Edn1 endothelin 1 JBrowse link 17 22,136,814 22,143,745 RGD:8662402
G Gzmb granzyme B JBrowse link 15 35,413,862 35,417,293 RGD:5135518
G Hmox1 heme oxygenase 1 JBrowse link 19 14,508,634 14,515,455 RGD:4145412
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:11554173
G Il13 interleukin 13 JBrowse link 10 38,982,909 38,985,466 RGD:4146242
G Il13ra1 interleukin 13 receptor subunit alpha 1 JBrowse link X 122,724,081 122,783,801 RGD:4146242
G Il13ra2 interleukin 13 receptor subunit alpha 2 JBrowse link X 118,443,955 118,514,716 RGD:4146242
G Il17a interleukin 17A JBrowse link 9 26,841,299 26,844,786 RGD:4143277
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:4143176
G Il4 interleukin 4 JBrowse link 10 38,963,979 38,969,531 RGD:2317286
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:4143277
G Mbl2 mannose binding lectin 2 JBrowse link 1 248,435,069 248,442,669 RGD:4889456
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:5130759
G Muc1 mucin 1, cell surface associated JBrowse link 2 188,543,137 188,547,874 RGD:5131273
G Nod2 nucleotide-binding oligomerization domain containing 2 JBrowse link 19 19,342,061 19,389,366 RGD:5131450
G Nos2 nitric oxide synthase 2 JBrowse link 10 66,188,290 66,221,621 RGD:4892082
G Nos3 nitric oxide synthase 3 JBrowse link 4 7,321,908 7,342,404 RGD:4892068
G Scgb1a1 secretoglobin family 1A member 1 JBrowse link 1 225,279,698 225,283,246 RGD:5147386
G Sftpd surfactant protein D JBrowse link 16 18,753,535 18,766,100 RGD:4143500
G Tlr9 toll-like receptor 9 JBrowse link 8 114,916,122 114,920,171 RGD:5130722
Bruck syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkbp10 FK506 binding protein 10 JBrowse link 10 88,326,337 88,338,199 RGD:13592920
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 JBrowse link 8 99,977,334 100,059,736 RGD:8554872
RGD:13592920
Bruck Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkbp10 FK506 binding protein 10 JBrowse link 10 88,326,337 88,338,199 RGD:8554872
RGD:7240710
Bruck Syndrome 2 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:7240710
RGD:8554872
bullous pemphigoid term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccl26 C-C motif chemokine ligand 26 JBrowse link 12 24,157,182 24,161,870 RGD:11087555
G Cfb complement factor B JBrowse link 20 4,536,206 4,542,073 RGD:7421522
G F2 coagulation factor II JBrowse link 3 80,529,468 80,542,993 RGD:5147756
G Icam1 intercellular adhesion molecule 1 JBrowse link 8 22,035,287 22,047,049 RGD:8547591
G Il2 interleukin 2 JBrowse link 2 123,847,150 123,851,854 RGD:8663461
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:8547843
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:7421578
Buschke-Ollendorff Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eln elastin JBrowse link 12 24,978,478 25,021,864 RGD:9585749
G Lemd3 LEM domain containing 3 JBrowse link 7 62,976,671 63,045,860 RGD:7240710
RGD:8554872
RGD:11553844
RGD:11553843
RGD:11553842
RGD:11553840
C Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd96 CD96 molecule JBrowse link 11 57,108,757 57,183,855 RGD:7240710
RGD:8554872
RGD:11554173
C1q Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1qa complement C1q A chain JBrowse link 5 155,261,254 155,264,101 RGD:7240710
RGD:8554872
G C1qb complement C1q B chain JBrowse link 5 155,246,444 155,251,995 RGD:7240710
RGD:8554872
G C1qc complement C1q C chain JBrowse link 5 155,255,013 155,258,631 RGD:7240710
RGD:8554872
Caffey disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G A4galt alpha 1,4-galactosyltransferase JBrowse link 7 124,085,832 124,110,440 RGD:8554872
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:5688296
RGD:8554872
RGD:11667069
RGD:7240710
campomelic dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sox9 SRY box 9 JBrowse link 10 101,288,528 101,294,030 RGD:7240710
RGD:8554872
G Sra1 steroid receptor RNA activator 1 JBrowse link 18 29,494,004 29,497,232 RGD:7240710
Campomelic Dysplasia with Autosomal Sex Reversal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sox9 SRY box 9 JBrowse link 10 101,288,528 101,294,030 RGD:8554872
Camptocormia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 7 76,750,045 76,780,817 RGD:8554872
camptodactyly-arthropathy-coxa vara-pericarditis syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prg4 proteoglycan 4 JBrowse link 13 67,672,588 67,688,902 RGD:7240710
RGD:8554872
RGD:11554173
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 14 82,272,322 82,287,739 RGD:7240710
RGD:8554872
Camurati-Engelmann disease 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:13592920
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:7240710
RGD:8554872
Cardiac Valvular Dysplasia, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:7240710
RGD:8554872
RGD:11565121
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
RGD:13592920
Carney complex term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam20a FAM20A, golgi associated secretory pathway pseudokinase JBrowse link 10 97,962,467 98,017,171 RGD:8554872
G Myh8 myosin heavy chain 8 JBrowse link 10 53,818,818 53,848,490 RGD:13592920
G Prkar1a protein kinase cAMP-dependent type 1 regulatory subunit alpha JBrowse link 10 97,940,705 97,959,199 RGD:7240710
RGD:8554872
RGD:11554173
Carney Complex Variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh8 myosin heavy chain 8 JBrowse link 10 53,818,818 53,848,490 RGD:7240710
RGD:8554872
Carney Triad term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sdha succinate dehydrogenase complex flavoprotein subunit A JBrowse link 1 31,545,631 31,570,601 RGD:8554872
G Sdhb succinate dehydrogenase complex iron sulfur subunit B JBrowse link 5 159,484,378 159,505,063 RGD:8554872
G Sdhc succinate dehydrogenase complex subunit C JBrowse link 13 89,498,047 89,518,979 RGD:8554872
Carney-Stratakis Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sdhb succinate dehydrogenase complex iron sulfur subunit B JBrowse link 5 159,484,378 159,505,063 RGD:7240710
RGD:8554872
G Sdhc succinate dehydrogenase complex subunit C JBrowse link 13 89,498,047 89,518,979 RGD:7240710
RGD:8554872
G Sdhd succinate dehydrogenase complex subunit D JBrowse link 8 55,028,125 55,037,604 RGD:7240710
RGD:8554872
Carpenter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Megf8 multiple EGF-like-domains 8 JBrowse link 1 82,184,671 82,234,045 RGD:13592920
G Rab23 RAB23, member RAS oncogene family JBrowse link 9 38,469,784 38,496,185 RGD:8554872
RGD:13592920
Carpenter Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Megf8 multiple EGF-like-domains 8 JBrowse link 1 82,184,671 82,234,045 RGD:7240710
RGD:8554872
cartilage disease 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:8699518
G Col11a2 collagen type XI alpha 2 chain JBrowse link 20 3,829,324 3,859,022 RGD:11554173
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:11554173
G Edn1 endothelin 1 JBrowse link 17 22,136,814 22,143,745 RGD:11554173
G Fgf14 fibroblast growth factor 14 JBrowse link 15 110,382,274 111,077,027 RGD:11554173
G Gata2 GATA binding protein 2 JBrowse link 4 120,129,028 120,142,490 RGD:11554173
G Mmp3 matrix metallopeptidase 3 JBrowse link 8 5,676,608 5,698,579 RGD:2325860
G Mt2A metallothionein 2A JBrowse link 19 11,307,966 11,308,740 RGD:6483833
G Nppc natriuretic peptide C JBrowse link 9 93,731,436 93,735,636 RGD:11554173
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 13 103,229,868 103,265,019 RGD:7240710
RGD:8554872
Catel Manzke Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgds TDP-glucose 4,6-dehydratase JBrowse link 15 103,319,268 103,340,239 RGD:8554872
RGD:7240710
cellulitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb2 gap junction protein, beta 2 JBrowse link 15 37,377,313 37,394,494 RGD:11554173
Cenani-Lenz syndactyly syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp4 LDL receptor related protein 4 JBrowse link 3 80,362,643 80,416,684 RGD:7240710
RGD:8554872
Cerebellar Hypoplasia with Endosteal Sclerosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polr3b RNA polymerase III subunit B JBrowse link 7 24,745,051 24,851,227 RGD:8554872
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Htra1 HtrA serine peptidase 1 JBrowse link 1 201,499,067 201,548,508 RGD:7240710
RGD:8554872
Cerebrooculofacioskeletal Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:8554872
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 1 80,293,574 80,307,334 RGD:8554872
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:7240710
RGD:8554872
RGD:10401101
RGD:10401092
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 1 80,293,574 80,307,334 RGD:1601070
RGD:8554872
RGD:7240710
Cerebrooculofacioskeletal Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc5 ERCC excision repair 5, endonuclease JBrowse link 9 50,928,847 50,970,962 RGD:8554872
RGD:7240710
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 1 80,256,973 80,268,198 RGD:7240710
RGD:8554872
cherubism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sh3bp2 SH3-domain binding protein 2 JBrowse link 14 81,435,445 81,473,013 RGD:1599339
RGD:8554872
RGD:7240710
Chilblain lupus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 JBrowse link 3 153,210,829 153,250,705 RGD:8554872
RGD:13592920
G Tldc2 TBC/LysM-associated domain containing 2 JBrowse link 3 153,195,295 153,208,118 RGD:8554872
G Trex1 three prime repair exonuclease 1 JBrowse link 8 117,796,127 117,797,427 RGD:8554872
RGD:13592920
Chilblain Lupus 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 JBrowse link 3 153,210,829 153,250,705 RGD:11554173
G Tmem173 transmembrane protein 173 JBrowse link 18 28,529,537 28,535,828 RGD:11554173
G Trex1 three prime repair exonuclease 1 JBrowse link 8 117,796,127 117,797,427 RGD:7240710
RGD:8554872
RGD:11554173
Chilblain Lupus 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 JBrowse link 3 153,210,829 153,250,705 RGD:7240710
RGD:8554872
CHITAYAT SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Erf Ets2 repressor factor JBrowse link 1 82,112,449 82,120,902 RGD:8554872
RGD:11554173
chondroblastoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G H3f3b H3 histone family member 3B JBrowse link 10 104,573,666 104,575,890 RGD:11554173
chondrocalcinosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankh ANKH inorganic pyrophosphate transport regulator JBrowse link 2 80,131,563 80,256,948 RGD:734570
RGD:13592920
RGD:8554872
G Otulin OTU deubiquitinase with linear linkage specificity JBrowse link 2 80,267,724 80,293,204 RGD:8554872
G Pomc proopiomelanocortin JBrowse link 6 28,382,937 28,388,771 RGD:11554173
Chondrocalcinosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankh ANKH inorganic pyrophosphate transport regulator JBrowse link 2 80,131,563 80,256,948 RGD:7240710
RGD:8554872
G Otulin OTU deubiquitinase with linear linkage specificity JBrowse link 2 80,267,724 80,293,204 RGD:8554872
chondrodysplasia Blomstrand type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pth1r parathyroid hormone 1 receptor JBrowse link 8 118,984,531 119,012,803 RGD:8554872
RGD:11554173
chondrodysplasia punctata term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arse arylsulfatase E JBrowse link 2 122,876,645 122,884,673 RGD:1599238
G Ebp EBP, cholestenol delta-isomerase JBrowse link X 15,049,394 15,055,782 RGD:734908
RGD:11554173
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 17 90,191,119 90,218,013 RGD:7240710
RGD:8554872
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 15,295,372 15,316,673 RGD:7240710
RGD:8554872
Chondrodysplasia, Megarbane-Dagher-Melki Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pam16 presequence translocase associated motor 16 JBrowse link 10 11,146,359 11,153,936 RGD:8554872
RGD:7240710
chondrodysplasia-pseudohermaphroditism syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hhat hedgehog acyltransferase JBrowse link 13 111,235,325 111,489,075 RGD:13592920
chondroma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
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 Ihh Indian hedgehog JBrowse link 9 82,208,223 82,214,440 RGD:12910968
G Smo smoothened, frizzled class receptor JBrowse link 4 57,019,941 57,041,779 RGD:12910968
chondrosarcoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chi3l1 chitinase 3 like 1 JBrowse link 13 51,022,844 51,030,797 RGD:4892624
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:8657387
RGD:11554173
G Ext1 exostosin glycosyltransferase 1 JBrowse link 7 92,605,008 92,881,392 RGD:7240710
RGD:13208235
RGD:8554872
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:11568634
G Mtor mechanistic target of rapamycin kinase JBrowse link 5 165,263,813 165,373,967 RGD:10040952
G Taf15 TATA-box binding protein associated factor 15 JBrowse link 10 70,689,863 70,721,892 RGD:1599281
CHOPS SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aff4 AF4/FMR2 family, member 4 JBrowse link 10 38,692,167 38,773,021 RGD:8554872
RGD:7240710
chordoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbxt T-box transcription factor T JBrowse link 1 52,887,067 52,900,691 RGD:11554173
chronic granulomatous disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyba cytochrome b-245 alpha chain JBrowse link 19 55,249,634 55,257,824 RGD:1600791
RGD:11554173
RGD:8554872
RGD:11040541
RGD:734861
G Cybb cytochrome b-245 beta chain JBrowse link X 14,578,330 14,610,049 RGD:1599664
RGD:8554872
RGD:11554173
RGD:11040566
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:11554173
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:6893353
G Ncf1 neutrophil cytosolic factor 1 JBrowse link 12 25,497,104 25,506,300 RGD:1600562
RGD:13592920
RGD:1624401
G Ncf2 neutrophil cytosolic factor 2 JBrowse link 13 70,226,441 70,259,019 RGD:1624401
RGD:8554872
RGD:13592920
G Ncf4 neutrophil cytosolic factor 4 JBrowse link 7 119,481,711 119,499,426 RGD:8554872
RGD:13592920
G Tlr5 toll-like receptor 5 JBrowse link 13 101,364,784 101,385,764 RGD:5130865
G Tlr9 toll-like receptor 9 JBrowse link 8 114,916,122 114,920,171 RGD:5130865
Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Negative term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyba cytochrome b-245 alpha chain JBrowse link 19 55,249,634 55,257,824 RGD:7240710
RGD:8554872
Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Positive, Type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ncf1 neutrophil cytosolic factor 1 JBrowse link 12 25,497,104 25,506,300 RGD:7240710
RGD:8554872
Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Positive, Type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ncf2 neutrophil cytosolic factor 2 JBrowse link 13 70,226,441 70,259,019 RGD:7240710
RGD:8554872
Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Positive, Type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ncf4 neutrophil cytosolic factor 4 JBrowse link 7 119,481,711 119,499,426 RGD:7240710
RGD:8554872
chronic recurrent multifocal osteomyelitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acyp2 acylphosphatase 2 JBrowse link 14 114,891,245 115,052,497 RGD:8554872
G Mynn myoneurin JBrowse link 2 116,397,154 116,414,702 RGD:8554872
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:8554872
G Zbtb46 zinc finger and BTB domain containing 46 JBrowse link 3 176,888,502 176,959,009 RGD:8554872
cicatricial pemphigoid term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clu clusterin JBrowse link 15 42,626,612 42,665,858 RGD:8699507
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:8549794
G Ptger3 prostaglandin E receptor 3 JBrowse link 2 263,895,093 263,979,682 RGD:11554173
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:7365096
RGD:7483589
G RT1-Db1 RT1 class II, locus Db1 JBrowse link 20 4,087,621 4,097,190 RGD:7365096
RGD:7365103
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:7394786
clear cell sarcoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcor BCL6 co-repressor JBrowse link X 11,570,155 11,692,022 RGD:11554173
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 8 48,094,233 48,198,499 RGD:7240710
RGD:8554872
RGD:11554173
cleidocranial dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cebpb CCAAT/enhancer binding protein beta JBrowse link 3 164,424,502 164,425,933 RGD:13592920
G Rnf146 ring finger protein 146 JBrowse link 1 30,856,923 30,873,814 RGD:13592920
G Runx2 runt-related transcription factor 2 JBrowse link 9 18,564,743 18,773,092 RGD:1601649
RGD:8554872
RGD:11554173
RGD:7240710
G Supt3h SPT3 homolog, SAGA and STAGA complex component JBrowse link 9 18,249,565 18,604,814 RGD:8554872
Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Runx2 runt-related transcription factor 2 JBrowse link 9 18,564,743 18,773,092 RGD:8554872
Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Runx2 runt-related transcription factor 2 JBrowse link 9 18,564,743 18,773,092 RGD:8554872
clubfoot term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aars alanyl-tRNA synthetase JBrowse link 19 43,193,264 43,215,281 RGD:8554872
G Chst14 carbohydrate sulfotransferase 14 JBrowse link 3 110,734,105 110,736,162 RGD:11554173
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 JBrowse link 8 62,472,087 62,478,122 RGD:11576307
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) JBrowse link 13 78,857,638 78,885,464 RGD:8554872
G Fkbp8 FK506 binding protein 8 JBrowse link 16 20,645,956 20,652,890 RGD:13592920
G Flnb filamin B JBrowse link 15 18,750,152 18,883,019 RGD:12791025
G Fras1 Fraser extracellular matrix complex subunit 1 JBrowse link 14 14,438,392 14,853,016 RGD:13592920
G Gli3 GLI family zinc finger 3 JBrowse link 17 52,294,942 52,569,036 RGD:12738235
G Grip1 glutamate receptor interacting protein 1 JBrowse link 7 64,672,723 64,854,939 RGD:13592920
G Hoxd12 homeo box D12 JBrowse link 3 61,597,382 61,598,503 RGD:12743594
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:12743594
G Lmx1b LIM homeobox transcription factor 1 beta JBrowse link 3 12,608,748 12,686,937 RGD:11554173
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:11554173
G Pitx1 paired-like homeodomain 1 JBrowse link 17 8,873,184 8,884,428 RGD:7240710
RGD:8554872
G Pkd1 polycystin 1, transient receptor potential channel interacting JBrowse link 10 13,914,057 13,962,008 RGD:8554872
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 JBrowse link 8 99,977,334 100,059,736 RGD:8554872
G Ret ret proto-oncogene JBrowse link 4 150,202,170 150,249,196 RGD:13592920
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 JBrowse link 1 219,126,687 219,139,466 RGD:13592920
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
Cockayne syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 1 80,256,973 80,268,198 RGD:8554872
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:10401080
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link 18 25,037,668 25,068,380 RGD:10401087
G Ercc5 ERCC excision repair 5, endonuclease JBrowse link 9 50,928,847 50,970,962 RGD:10401090
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:8554872
RGD:11554173
RGD:11567232
RGD:10401100
RGD:10401095
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit JBrowse link 2 39,434,617 39,473,392 RGD:7246919
RGD:11064547
RGD:8554872
RGD:11554173
RGD:10401108
G Ghr growth hormone receptor JBrowse link 2 53,149,225 53,413,954 RGD:10003139
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:10003139
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 JBrowse link 2 39,322,145 39,434,535 RGD:8554872
G Xpa XPA, DNA damage recognition and repair factor JBrowse link 5 61,749,767 61,793,641 RGD:10401087
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 2 39,434,617 39,473,392 RGD:10401106
RGD:7240710
Cockayne Syndrome B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:8554872
RGD:7240710
CODAS Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lonp1 lon peptidase 1, mitochondrial JBrowse link 9 10,428,853 10,441,180 RGD:8554872
RGD:7240710
Cole-Carpenter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G P4hb prolyl 4-hydroxylase subunit beta JBrowse link 10 109,736,459 109,748,070 RGD:8554872
RGD:11554173
G Sec24d SEC24 homolog D, COPII coat complex component JBrowse link 2 227,455,704 227,562,801 RGD:11554173
Cole-Carpenter Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G P4hb prolyl 4-hydroxylase subunit beta JBrowse link 10 109,736,459 109,748,070 RGD:7240710
RGD:8554872
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 2 227,455,704 227,562,801 RGD:7240710
RGD:8554872
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 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:11554173
RGD:8554872
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 3 91,206,394 91,217,491 RGD:7240710
RGD:8554872
G Rag2 recombination activating 2 JBrowse link 3 91,191,837 91,200,134 RGD:7240710
RGD:8554872
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 8 23,142,733 23,149,067 RGD:7240710
RGD:8554872
G LOC100911320 zinc finger protein 709-like JBrowse link 8 23,176,910 23,197,896 RGD:8554872
Congenital Disorder of Glycosylation Type 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnaaf2 dynein, axonemal, assembly factor 2 JBrowse link 6 91,481,439 91,490,189 RGD:8554872
G Mgat2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase JBrowse link 6 91,476,698 91,479,187 RGD:7240710
RGD:8554872
Congenital Generalized Fibromatosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Notch3 notch 3 JBrowse link 7 14,138,495 14,189,688 RGD:8554872
RGD:11554173
G Pdgfrb platelet derived growth factor receptor beta JBrowse link 18 56,364,586 56,406,381 RGD:7240710
RGD:8554872
congenital generalized lipodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 JBrowse link 3 4,044,741 4,055,384 RGD:10047097
RGD:11554173
RGD:8554872
G Bscl2 BSCL2, seipin lipid droplet biogenesis associated JBrowse link 1 225,035,956 225,046,137 RGD:8554872
RGD:11554173
congenital generalized lipodystrophy type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 JBrowse link 3 4,044,741 4,055,384 RGD:8554872
RGD:7240710
congenital generalized lipodystrophy type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bscl2 BSCL2, seipin lipid droplet biogenesis associated JBrowse link 1 225,035,956 225,046,137 RGD:8554872
RGD:7240710
G Pparg peroxisome proliferator-activated receptor gamma JBrowse link 4 147,274,055 147,399,383 RGD:13592920
congenital generalized lipodystrophy type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cav1 caveolin 1 JBrowse link 4 44,597,123 44,630,206 RGD:7240710
RGD:8554872
congenital generalized lipodystrophy type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cavin1 caveolae associated protein 1 JBrowse link 10 88,862,513 88,874,495 RGD:7240710
RGD:8554872
congenital hypothyroidism term browser
Symbol Object Name JBrowse Chr Start Stop Reference