ONTOLOGY REPORT - ANNOTATIONS


Term:osteochondrodysplasia
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Accession:DOID:2256 term browser browse the term
Definition:Abnormal development of cartilage and bone.
Synonyms:exact_synonym: Congenital anomaly of cartilage;   Dyschondroplasia;   Dyschondroplasias;   Late Onset Spondyloepiphyseal Dysplasia;   Late Spondyloepiphyseal Dysplasia;   MNS;   Melnick Needles Osteodysplasty;   Melnick Needles Syndrome;   Multiple Epiphyseal Dysplasia;   Myotonic Chondrodystrophy;   Myotonic Myopathy, Dwarfism, Chondrodystrophy, And Ocular And Facial Abnormalities;   Osteochondrodysplasia syndrome;   Osteodysplasty of Melnick and Needles;   SJA Syndrome;   Sost Sclerosing Bone Dysplasia;   Spondylo-Epimetaphyseal Dysplasia With Myotonia;   cartilage development disorder;   chondrodystrophic myotonia;   chondrodystrophy;   osteochondrodysplasias;   spondyloepiphyseal dysplasia
 narrow_synonym: Chondrodysplasia, disproportionate short-limbed;   chondrodysplasia
 primary_id: MESH:D010009
 alt_id: OMIA:000187;   OMIA:001315;   OMIA:001886;   OMIM:309350;   RDO:0000496
For additional species annotation, visit the Alliance of Genome Resources.


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osteochondrodysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acan aggrecan JBrowse link 1 140,762,758 140,824,441 RGD:11570525
G Adamtsl2 ADAMTS-like 2 JBrowse link 3 5,624,473 5,654,890 RGD:11554173
G Atf2 activating transcription factor 2 JBrowse link 3 60,721,137 60,795,951 RGD:13592920
G Bcl2 BCL2, apoptosis regulator JBrowse link 13 26,605,426 26,769,374 RGD:11554173
G Bmpr1b bone morphogenetic protein receptor type 1B JBrowse link 2 247,392,195 247,662,026 RGD:1600593
G Chst11 carbohydrate sulfotransferase 11 JBrowse link 7 26,641,856 26,890,503 RGD:8554872
G Chst3 carbohydrate sulfotransferase 3 JBrowse link 20 29,731,828 29,768,656 RGD:1600853
RGD:11554173
RGD:8554872
G Col10a1 collagen type X alpha 1 chain JBrowse link 20 41,180,295 41,190,664 RGD:1600880
G Col11a1 collagen type XI alpha 1 chain JBrowse link 2 216,863,423 217,056,523 RGD:11554173
G Col11a2 collagen type XI alpha 2 chain JBrowse link 20 3,829,324 3,859,022 RGD:1600883
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:11554173
RGD:8554872
RGD:11667106
RGD:11667103
G Col9a1 collagen type IX alpha 1 chain JBrowse link 9 30,419,001 30,502,307 RGD:1600949
RGD:11554173
G Col9a2 collagen type IX alpha 2 chain JBrowse link 5 139,962,684 139,979,865 RGD:1600952
G Col9a3 collagen type IX alpha 3 chain JBrowse link 3 176,102,287 176,124,839 RGD:1600695
G Comp cartilage oligomeric matrix protein JBrowse link 16 20,798,437 20,807,070 RGD:1600702
RGD:1600705
G Dll3 delta like canonical Notch ligand 3 JBrowse link 1 85,485,875 85,493,683 RGD:11554173
G Dym dymeclin JBrowse link 18 70,996,074 71,313,033 RGD:1598787
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:1598954
RGD:8554872
RGD:11565455
RGD:11554173
RGD:7240710
G Flnb filamin B JBrowse link 15 18,750,152 18,883,019 RGD:1601168
RGD:12791027
G Flt1 FMS-related tyrosine kinase 1 JBrowse link 12 9,033,993 9,205,886 RGD:11554173
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:8554872
G Glb1 galactosidase, beta 1 JBrowse link 8 122,439,328 122,511,939 RGD:11554173
G Hspg2 heparan sulfate proteoglycan 2 JBrowse link 5 155,812,096 155,913,751 RGD:1624267
RGD:11554173
G Impad1 inositol monophosphatase domain containing 1 JBrowse link 17 90,191,119 90,218,013 RGD:8554872
G Kdr kinase insert domain receptor JBrowse link 14 34,727,677 34,787,127 RGD:11554173
G Lifr LIF receptor subunit alpha JBrowse link 2 56,424,910 56,489,346 RGD:1600614
G Matn3 matrilin 3 JBrowse link 6 34,071,428 34,091,048 RGD:1599920
RGD:1599919
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:12859038
G Pth1r parathyroid hormone 1 receptor JBrowse link 8 118,984,531 119,012,803 RGD:1599978
RGD:8554872
G Slc26a2 solute carrier family 26 member 2 JBrowse link 18 56,518,999 56,534,539 RGD:1600010
RGD:8554872
G Sost sclerostin JBrowse link 10 89,897,087 89,900,131 RGD:11554173
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:1601550
G Tgfb2 transforming growth factor, beta 2 JBrowse link 13 105,039,639 105,142,010 RGD:2302024
G Tgfbr1 transforming growth factor, beta receptor 1 JBrowse link 5 63,056,071 63,119,635 RGD:2302024
G Trappc2 trafficking protein particle complex 2 JBrowse link X 29,550,871 29,562,135 RGD:8554872
RGD:11554173
G Trip11 thyroid hormone receptor interactor 11 JBrowse link 6 125,741,520 125,812,926 RGD:8554872
G Trps1 transcriptional repressor GATA binding 1 JBrowse link 7 90,085,895 90,320,430 RGD:1599670
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:11554173
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:11554173
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
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
acrocapitofemoral dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ihh Indian hedgehog signaling molecule JBrowse link 9 82,208,223 82,214,440 RGD:1600033
RGD:8554872
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 I 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 I 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 Depdc1b DEP domain containing 1B JBrowse link 2 39,980,796 40,069,982 RGD:8554872
G Pde4d phosphodiesterase 4D JBrowse link 2 40,219,999 41,468,551 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, Demirhan Type 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:7240710
RGD:11554173
RGD:8554872
acromesomelic dysplasia, Grebe 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:12487346
RGD:12437083
RGD:12437075
RGD:8554872
acromesomelic dysplasia, Hunter-Thompson type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmpr1b bone morphogenetic protein receptor type 1B JBrowse link 2 247,392,195 247,662,026 RGD:11554173
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
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 Arhgef39 Rho guanine nucleotide exchange factor 39 JBrowse link 5 58,998,209 59,001,779 RGD:8554872
G Ca9 carbonic anhydrase 9 JBrowse link 5 59,008,277 59,015,535 RGD:8554872
G Ccdc107 coiled-coil domain containing 107 JBrowse link 5 58,995,211 58,998,620 RGD:8554872
G Ccin calicin JBrowse link 5 59,452,348 59,454,235 RGD:8554872
G Ccl19 C-C motif chemokine ligand 19 JBrowse link 5 58,181,025 58,182,969 RGD:8554872
G Ccl21 C-C motif chemokine ligand 21 JBrowse link 5 58,197,678 58,198,782 RGD:8554872
G Ccl27 C-C motif chemokine ligand 27 JBrowse link 5 58,159,066 58,166,182 RGD:8554872
G Cd72 Cd72 molecule JBrowse link 5 58,943,021 58,950,373 RGD:8554872
G Clta clathrin, light chain A JBrowse link 5 59,490,689 59,509,139 RGD:8554872
G Creb3 cAMP responsive element binding protein 3 JBrowse link 5 59,063,532 59,068,196 RGD:8554872
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 JBrowse link 5 58,393,197 58,402,162 RGD:8554872
G Fam166b family with sequence similarity 166, member B JBrowse link 5 58,883,064 58,884,136 RGD:8554872
G Fam205a family with sequence similarity 205, member A JBrowse link 5 58,282,202 58,303,075 RGD:8554872
G Fam205c family with sequence similarity 205, member C JBrowse link 5 58,303,741 58,310,209 RGD:8554872
G Fam214b family with sequence similarity 214, member B JBrowse link 5 58,477,894 58,484,900 RGD:8554872
G Fam221b family with sequence similarity 221, member B JBrowse link 5 59,156,079 59,165,440 RGD:8554872
G Fancg FA complementation group G JBrowse link 5 58,448,060 58,456,416 RGD:8554872
G Galt galactose-1-phosphate uridylyltransferase JBrowse link 5 58,144,679 58,147,946 RGD:8554872
G Gba2 glucosylceramidase beta 2 JBrowse link 5 59,068,081 59,079,719 RGD:8554872
G Glipr2 GLI pathogenesis-related 2 JBrowse link 5 59,415,415 59,446,732 RGD:8554872
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase JBrowse link 5 59,511,738 59,553,421 RGD:8554872
G Hint2 histidine triad nucleotide binding protein 2 JBrowse link 5 59,150,344 59,152,599 RGD:8554872
G Hrct1 histidine rich carboxyl terminus 1 JBrowse link 5 59,228,138 59,228,915 RGD:8554872
G Il11ra1 interleukin 11 receptor subunit alpha 1 JBrowse link 5 58,149,150 58,159,072 RGD:8554872
G LOC100360821 rCG55159-like JBrowse link 5 58,416,058 58,421,991 RGD:8554872
G Msmp microseminoprotein, prostate associated RGD:8554872
G Npr2 natriuretic peptide receptor 2 JBrowse link 5 59,128,186 59,147,321 RGD:8554872
G Olr834 olfactory receptor 834 JBrowse link 5 59,207,120 59,208,058 RGD:8554872
G Olr838 olfactory receptor 838 JBrowse link 5 59,291,988 59,292,944 RGD:8554872
G Phf24 PHD finger protein 24 JBrowse link 5 58,359,744 58,387,446 RGD:8554872
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O JBrowse link 5 58,461,055 58,470,699 RGD:8554872
G Pop1 POP1 homolog, ribonuclease P/MRP subunit JBrowse link 7 73,270,403 73,298,209 RGD:11554173
G Reck reversion-inducing-cysteine-rich protein with kazal motifs JBrowse link 5 59,348,568 59,415,169 RGD:8554872
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 JBrowse link 5 59,080,290 59,088,777 RGD:8554872
G Rusc2 RUN and SH3 domain containing 2 JBrowse link 5 58,860,444 58,883,152 RGD:8554872
G Sit1 signaling threshold regulating transmembrane adaptor 1 JBrowse link 5 58,985,912 58,987,538 RGD:8554872
G Spag8 sperm associated antigen 8 JBrowse link 5 59,147,412 59,149,625 RGD:8554872
G Stoml2 stomatin like 2 JBrowse link 5 58,472,561 58,476,158 RGD:8554872
G Tesk1 testis associated actin remodelling kinase 1 JBrowse link 5 58,937,615 58,943,358 RGD:8554872
G Tln1 talin 1 JBrowse link 5 59,033,635 59,063,592 RGD:8554872
G Tmem8b transmembrane protein 8B JBrowse link 5 59,165,552 59,193,772 RGD:8554872
G Tpm2 tropomyosin 2 JBrowse link 5 59,016,616 59,025,971 RGD:8554872
G Unc13b unc-13 homolog B JBrowse link 5 58,505,449 58,714,396 RGD:8554872
G Vcp valosin-containing protein JBrowse link 5 58,426,548 58,445,953 RGD:8554872
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
RGD:7240710
Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:8554872
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 156,254,187 156,280,046 RGD:7240710
RGD:8554872
asphyxiating thoracic dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B9d1 B9 domain containing 1 JBrowse link 10 47,784,294 47,794,399 RGD:8554872
G C2cd3 C2 calcium-dependent domain containing 3 JBrowse link 1 165,382,279 165,480,088 RGD:8554872
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 Flvcr1 feline leukemia virus subgroup C cellular receptor 1 JBrowse link 13 109,624,167 109,629,609 RGD:8554872
G Fuz fuzzy planar cell polarity protein JBrowse link 1 100,891,832 100,896,811 RGD:8554872
G Ick intestinal cell kinase JBrowse link 8 85,413,998 85,473,374 RGD:8554872
G Ift140 intraflagellar transport 140 JBrowse link 10 14,373,668 14,461,509 RGD:11554173
RGD:8554872
G Ift172 intraflagellar transport 172 JBrowse link 6 26,390,686 26,485,459 RGD:11554173
RGD:8554872
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:11554173
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 Ift81 intraflagellar transport 81 JBrowse link 12 39,420,161 39,507,412 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 LOC690035 similar to Protein KIAA0586 JBrowse link 6 93,562,775 93,667,857 RGD:11554173
RGD:8554872
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 RGD1304728 similar to 4933427D14Rik protein JBrowse link 10 58,726,721 58,776,718 RGD:8554872
G Sltm SAFB-like, transcription modulator JBrowse link 8 76,977,698 77,022,847 RGD:8554872
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 Smc4 structural maintenance of chromosomes 4 JBrowse link 2 165,600,934 165,629,415 RGD:8554872
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 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:11554173
RGD:8554872
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
RGD:8554872
asphyxiating thoracic dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcg5 ATP binding cassette subfamily G member 5 JBrowse link 6 7,935,771 7,961,207 RGD:8554872
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 JBrowse link 6 7,900,962 7,933,795 RGD:8554872
G Ift140 intraflagellar transport 140 JBrowse link 10 14,373,668 14,461,509 RGD:8554872
RGD:13592920
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:11554173
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 Dmd dystrophin JBrowse link X 51,149,358 53,519,271 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
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
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 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 osteopetrosis 3 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:8554872
RGD:7240710
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 osteopetrosis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc154 coiled-coil domain containing 154 JBrowse link 10 14,518,240 14,529,920 RGD:13592920
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 osteoclastogenesis 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
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
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
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 Ltbp3 latent transforming growth factor beta binding protein 3 JBrowse link 1 221,099,155 221,116,096 RGD:7240710
RGD:8554872
Bruck syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkbp10 FKBP prolyl isomerase 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 FKBP prolyl isomerase 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
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
Caffey disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G A4galt alpha 1,4-galactosyltransferase (P blood group) 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
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
Camurati-Engelmann disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mitf melanocyte inducing 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
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:7240710
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
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
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
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:7240710
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
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
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 melanocyte inducing transcription factor JBrowse link 4 130,172,484 130,425,496 RGD:8554872
RGD:7240710
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
Craniodiaphyseal Dysplasia, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sost sclerostin JBrowse link 10 89,897,087 89,900,131 RGD:7240710
RGD:8554872
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:8554872
RGD:13592920
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:13592920
G Ift43 intraflagellar transport 43 JBrowse link 6 109,939,323 110,016,646 RGD:13592920
G Otulin OTU deubiquitinase with linear linkage specificity JBrowse link 2 80,267,724 80,293,204 RGD:8554872
G Sost sclerostin JBrowse link 10 89,897,087 89,900,131 RGD:13592920
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:13592920
Czech Dysplasia, Metatarsal 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:8657344
RGD:8554872
RGD:7240710
Desbuquois dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cant1 calcium activated nucleotidase 1 JBrowse link 10 107,432,500 107,445,634 RGD:8554872
RGD:11554173
G Xylt1 xylosyltransferase 1 JBrowse link 1 186,939,698 187,264,758 RGD:11554173
Desbuquois Dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cant1 calcium activated nucleotidase 1 JBrowse link 10 107,432,500 107,445,634 RGD:7240710
RGD:8554872
G Xylt1 xylosyltransferase 1 JBrowse link 1 186,939,698 187,264,758 RGD:8554872
Desbuquois Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Xylt1 xylosyltransferase 1 JBrowse link 1 186,939,698 187,264,758 RGD:8554872
RGD:7240710
diastrophic dysplasia 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:13208932
RGD:13208867
Dyggve-Melchior-Clausen disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dym dymeclin JBrowse link 18 70,996,074 71,313,033 RGD:7240710
RGD:8554872
Eiken Skeletal Dysplasia 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:7240710
RGD:12910707
Ellis-Van Creveld syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc39 coiled-coil domain containing 39 JBrowse link 2 120,278,605 120,367,829 RGD:8554872
G Evc EvC ciliary complex subunit 1 JBrowse link 14 78,213,601 78,253,266 RGD:1302823
RGD:8554872
RGD:7240710
G Evc2 EvC ciliary complex subunit 2 JBrowse link 14 78,128,620 78,212,394 RGD:1600212
RGD:8554872
RGD:7240710
G Traf3ip1 TRAF3 interacting protein 1 JBrowse link 9 98,621,499 98,658,223 RGD:8554872
G Wdr35 WD repeat domain 35 JBrowse link 6 34,094,291 34,152,048 RGD:11073852
RGD:8554872
fibrochondrogenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a1 collagen type XI alpha 1 chain JBrowse link 2 216,863,423 217,056,523 RGD:8554872
RGD:11554173
G Col11a2 collagen type XI alpha 2 chain JBrowse link 20 3,829,324 3,859,022 RGD:8554872
RGD:11554173
Fibrochondrogenesis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a1 collagen type XI alpha 1 chain JBrowse link 2 216,863,423 217,056,523 RGD:7240710
Fibrochondrogenesis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a2 collagen type XI alpha 2 chain JBrowse link 20 3,829,324 3,859,022 RGD:8554872
RGD:7240710
Fibrous Dysplasia of Bone term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fos Fos proto-oncogene, AP-1 transcription factor subunit JBrowse link 6 109,300,433 109,303,299 RGD:11554173
G Trim37 tripartite motif-containing 37 JBrowse link 10 74,436,165 74,568,636 RGD:11554173
Forney Robinson Pascoe Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Map3k7 mitogen activated protein kinase kinase kinase 7 JBrowse link 5 47,183,142 47,244,424 RGD:8554872
RGD:11554173
Frontometaphyseal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:11554173
RGD:8554872
G Map3k7 mitogen activated protein kinase kinase kinase 7 JBrowse link 5 47,183,142 47,244,424 RGD:11554173
Frontometaphyseal Dysplasia 1 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:11063279
Frontometaphyseal Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Map3k7 mitogen activated protein kinase kinase kinase 7 JBrowse link 5 47,183,142 47,244,424 RGD:8554872
RGD:7240710
Ghosal Hematodiaphyseal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbxas1 thromboxane A synthase 1 JBrowse link 4 66,624,181 66,846,745 RGD:7240710
RGD:8554872
Gnathodiaphyseal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ano5 anoctamin 5 JBrowse link 1 106,873,580 106,971,769 RGD:7240710
RGD:8554872
RGD:11570566
RGD:11570556
Greenberg 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:7240710
RGD:8554872
RGD:9588626
hereditary multiple exostoses term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ext1 exostosin glycosyltransferase 1 JBrowse link 7 92,605,008 92,881,392 RGD:1598916
RGD:8554872
RGD:13208236
RGD:13208234
RGD:13208233
RGD:13208229
RGD:13208228
RGD:13208227
RGD:11554173
G Ext2 exostosin glycosyltransferase 2 JBrowse link 3 82,602,784 82,734,557 RGD:11554173
RGD:8554872
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:11554173
Hip Dysplasia, Beukes Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RGD1564308 similar to LOC495042 protein JBrowse link 16 49,485,022 49,509,756 RGD:8554872
G Ufsp2 UFM1-specific peptidase 2 JBrowse link 16 49,465,958 49,484,975 RGD:7240710
RGD:8554872
Hyperostosis Cranialis Interna term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc39a14 solute carrier family 39 member 14 JBrowse link 15 51,982,872 52,029,841 RGD:8554872
hypertrichotic osteochondrodysplasia Cantu type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc9 ATP binding cassette subfamily C member 9 JBrowse link 4 176,806,098 176,928,540 RGD:7240710
RGD:8554872
RGD:11554173
G Kcnj8 potassium voltage-gated channel subfamily J member 8 JBrowse link 4 176,783,287 176,789,143 RGD:11554173
hypochondrogenesis 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
hypochondroplasia 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
RGD:11568026
hypoparathyroidism-retardation-dysmorphism syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 JBrowse link 17 54,027,859 54,070,399 RGD:8554872
G Tbce tubulin folding cofactor E JBrowse link 17 53,983,126 54,029,028 RGD:7240710
RGD:8554872
RGD:11554173
IMAGe syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdkn1c cyclin-dependent kinase inhibitor 1C JBrowse link 1 216,661,067 216,663,791 RGD:7240710
RGD:8554872
IMAGEI Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pole DNA polymerase epsilon, catalytic subunit JBrowse link 12 52,403,533 52,452,075 RGD:8554872
RGD:7240710
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Extl3 exostosin-like glycosyltransferase 3 JBrowse link 15 48,420,419 48,465,171 RGD:8554872
RGD:7240710
Jansen's metaphyseal chondrodysplasia 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:7240710
Kashin-Beck Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bax BCL2 associated X, apoptosis regulator JBrowse link 1 101,451,801 101,457,207 RGD:10054094
G Bcl2 BCL2, apoptosis regulator JBrowse link 13 26,605,426 26,769,374 RGD:10054094
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:10054094
Kenny-Caffey Syndrome, Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbce tubulin folding cofactor E JBrowse link 17 53,983,126 54,029,028 RGD:7240710
RGD:8554872
Kenny-Caffey Syndrome, Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam111a family with sequence similarity 111, member A JBrowse link 1 229,003,778 229,019,532 RGD:7240710
RGD:8554872
G Tbce tubulin folding cofactor E JBrowse link 17 53,983,126 54,029,028 RGD:11554173
Kniest dysplasia 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
Langer Mesomelic Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC691272 similar to reproductive homeobox on X chromosome, 11 JBrowse link X 124,045,727 124,052,708 RGD:7240710
RGD:8554872
Larsen syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst3 carbohydrate sulfotransferase 3 JBrowse link 20 29,731,828 29,768,656 RGD:8554872
G Flnb filamin B JBrowse link 15 18,750,152 18,883,019 RGD:7240710
RGD:8554872
RGD:11554173
Larsen Syndrome, Recessive Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3gat3 beta-1,3-glucuronyltransferase 3 JBrowse link 1 225,120,061 225,126,579 RGD:7240710
RGD:8554872
G B4galt7 beta-1,4-galactosyltransferase 7 JBrowse link 17 9,549,605 9,558,672 RGD:8554872
G Chst3 carbohydrate sulfotransferase 3 JBrowse link 20 29,731,828 29,768,656 RGD:11554173
G Col11a2 collagen type XI alpha 2 chain JBrowse link 20 3,829,324 3,859,022 RGD:8554872
Larsen Syndromes term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flnb filamin B JBrowse link 15 18,750,152 18,883,019 RGD:12791029
Leri-Weill dyschondrosteosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC691272 similar to reproductive homeobox on X chromosome, 11 JBrowse link X 124,045,727 124,052,708 RGD:7240710
RGD:8554872
G Shox2 short stature homeobox 2 JBrowse link 2 164,118,175 164,126,783 RGD:13592920
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:8554872
RGD:7240710
Marshall Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a1 collagen type XI alpha 1 chain JBrowse link 2 216,863,423 217,056,523 RGD:7240710
RGD:8554872
RGD:11554173
Marshall/Stickler Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a1 collagen type XI alpha 1 chain JBrowse link 2 216,863,423 217,056,523 RGD:8554872
McCune Albright syndrome 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:8554872
RGD:7240710
RGD:11554173
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:12743609
Melorheostosis with Osteopoikilosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lemd3 LEM domain containing 3 JBrowse link 7 62,976,671 63,045,860 RGD:8554872
Metachondromatosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:7240710
RGD:8554872
G Rpl6 ribosomal protein L6 JBrowse link 12 40,877,578 40,882,032 RGD:8554872
Metaphyseal Anadysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mmp13 matrix metallopeptidase 13 JBrowse link 8 5,522,739 5,533,018 RGD:8554872
RGD:13204811
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:8554872
RGD:13204811
Metaphyseal Anadysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mmp13 matrix metallopeptidase 13 JBrowse link 8 5,522,739 5,533,018 RGD:8554872
Metaphyseal Anadysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:7240710
RGD:8554872
Metaphyseal Chondrodysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col10a1 collagen type X alpha 1 chain JBrowse link 20 41,180,295 41,190,664 RGD:8554872
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:8554872
G Nt5dc1 5'-nucleotidase domain containing 1 JBrowse link 20 41,106,990 41,209,765 RGD:8554872
G Pth1r parathyroid hormone 1 receptor JBrowse link 8 118,984,531 119,012,803 RGD:8554872
Metaphyseal Chondrodysplasia Spahr Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mmp13 matrix metallopeptidase 13 JBrowse link 8 5,522,739 5,533,018 RGD:8554872
RGD:7240710
Metaphyseal Chondrodysplasia with Retinitis Pigmentosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cwc27 CWC27 spliceosome associated cyclophilin JBrowse link 2 34,716,420 34,923,060 RGD:8554872
RGD:7240710
metaphyseal dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sfrp4 secreted frizzled-related protein 4 JBrowse link 17 47,383,983 47,394,065 RGD:8554872
RGD:7240710
Metaphyseal Dysplasia with Maxillary Hypoplasia and 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
RGD:11554173
G Supt3h SPT3 homolog, SAGA and STAGA complex component JBrowse link 9 18,249,565 18,604,814 RGD:8554872
Metaphyseal Dysplasia with Maxillary Hypoplasia with or without 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:7240710
Metatropic Dwarfism 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
RGD:11554173
Microcephalic Osteodysplastic Primordial Dwarfism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcnt pericentrin JBrowse link 20 12,943,523 13,038,615 RGD:8554872
microcephalic osteodysplastic primordial dwarfism type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clasp1 cytoplasmic linker associated protein 1 JBrowse link 13 34,365,038 34,584,651 RGD:8554872
microcephalic osteodysplastic primordial dwarfism type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcnt pericentrin JBrowse link 20 12,943,523 13,038,615 RGD:7240710
RGD:8554872
RGD:11537403
RGD:11537402
RGD:11537401
RGD:11537400
Microcephaly-Micromelia Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Donson downstream neighbor of SON JBrowse link 11 31,834,608 31,847,751 RGD:8554872
Miura type epiphyseal chondrodysplasia 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:8554872
RGD:7240710
multiple epiphyseal dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col9a1 collagen type IX alpha 1 chain JBrowse link 9 30,419,001 30,502,307 RGD:8554872
G Col9a2 collagen type IX alpha 2 chain JBrowse link 5 139,962,684 139,979,865 RGD:8554872
G Col9a3 collagen type IX alpha 3 chain JBrowse link 3 176,102,287 176,124,839 RGD:8554872
G Comp cartilage oligomeric matrix protein JBrowse link 16 20,798,437 20,807,070 RGD:8554872
RGD:13592920
G Matn3 matrilin 3 JBrowse link 6 34,071,428 34,091,048 RGD:8554872
RGD:13592920
G Tcfl5 transcription factor like 5 JBrowse link 3 176,124,846 176,144,531 RGD:8554872
G Wdr35 WD repeat domain 35 JBrowse link 6 34,094,291 34,152,048 RGD:8554872
multiple epiphyseal dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Comp cartilage oligomeric matrix protein JBrowse link 16 20,798,437 20,807,070 RGD:7240710
RGD:8554872
RGD:11554173
multiple epiphyseal dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col9a2 collagen type IX alpha 2 chain JBrowse link 5 139,962,684 139,979,865 RGD:7240710
RGD:8554872
multiple epiphyseal dysplasia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col9a3 collagen type IX alpha 3 chain JBrowse link 3 176,102,287 176,124,839 RGD:7240710
RGD:8554872
multiple epiphyseal dysplasia 4 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:13208864
multiple epiphyseal dysplasia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Matn3 matrilin 3 JBrowse link 6 34,071,428 34,091,048 RGD:7240710
RGD:8554872
multiple epiphyseal dysplasia 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col9a1 collagen type IX alpha 1 chain JBrowse link 9 30,419,001 30,502,307 RGD:7240710
RGD:8554872
multiple epiphyseal dysplasia 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cant1 calcium activated nucleotidase 1 JBrowse link 10 107,432,500 107,445,634 RGD:8554872
RGD:7240710
Multiple Epiphyseal Dysplasia with Myopia and Conductive Deafness 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
Multiple Exostoses Type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ext1 exostosin glycosyltransferase 1 JBrowse link 7 92,605,008 92,881,392 RGD:7240710
Multiple Exostoses Type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ext2 exostosin glycosyltransferase 2 JBrowse link 3 82,602,784 82,734,557 RGD:7240710
RGD:8554872
Nasu-Hakola disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trem2 triggering receptor expressed on myeloid cells 2 JBrowse link 9 14,611,541 14,618,076 RGD:8554872
G Tyrobp Tyro protein tyrosine kinase binding protein JBrowse link 1 88,875,370 88,879,305 RGD:7240710
RGD:8554872
normophosphatemic familial tumoral calcinosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Samd9 sterile alpha motif domain containing 9 JBrowse link 4 28,304,967 28,324,637 RGD:7240710
RGD:8554872
OI/EDS Combined Syndrome 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:8554872
Ollier disease 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 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:11554173
omodysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fzd2 frizzled class receptor 2 JBrowse link 10 90,550,147 90,552,057 RGD:13592920
G Gpc6 glypican 6 JBrowse link 15 102,164,091 103,174,721 RGD:8554872
RGD:13592920
Omodysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fzd2 frizzled class receptor 2 JBrowse link 10 90,550,147 90,552,057 RGD:8554872
RGD:7240710
Omodysplasia Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpc6 glypican 6 JBrowse link 15 102,164,091 103,174,721 RGD:7240710
RGD:11554173
RGD:8554872
Opsismodysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Inppl1 inositol polyphosphate phosphatase-like 1 JBrowse link 1 166,898,177 166,912,524 RGD:7240710
RGD:8554872
Osteoarthritis with Mild Chondrodysplasia 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
OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tapt1 transmembrane anterior posterior transformation 1 JBrowse link 14 71,416,153 71,462,646 RGD:8554872
RGD:7240710
Osteochondroma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:11554173
osteogenesis imperfecta term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp1 bone morphogenetic protein 1 JBrowse link 15 52,166,401 52,210,786 RGD:8554872
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:734802
RGD:8554872
RGD:11667068
RGD:11667066
RGD:11667065
RGD:11571620
RGD:11571617
RGD:11571614
RGD:11554173
RGD:8552657
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:1581197
RGD:8554872
RGD:13592920
RGD:11667066
RGD:734804
RGD:7248772
G Creb3l1 cAMP responsive element binding protein 3-like 1 JBrowse link 3 80,892,433 80,933,283 RGD:8554872
G Crtap cartilage associated protein JBrowse link 8 122,382,613 122,402,209 RGD:11554173
RGD:8554872
G Fkbp10 FKBP prolyl isomerase 10 JBrowse link 10 88,326,337 88,338,199 RGD:8554872
G Lrp5 LDL receptor related protein 5 JBrowse link 1 218,816,833 218,920,147 RGD:12792279
G P3h1 prolyl 3-hydroxylase 1 JBrowse link 5 138,279,597 138,294,280 RGD:11554173
G Ppib peptidylprolyl isomerase B JBrowse link 8 71,719,681 71,725,538 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:8554872
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:8554872
G Serpinf1 serpin family F member 1 JBrowse link 10 62,241,750 62,254,145 RGD:8554872
G Serpinh1 serpin family H member 1 JBrowse link 1 164,301,010 164,308,306 RGD:8554872
G Sftpc surfactant protein C JBrowse link 15 52,211,538 52,214,480 RGD:8554872
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:13592920
G Smpd3 sphingomyelin phosphodiesterase 3 JBrowse link 19 38,237,963 38,321,572 RGD:13592920
G Snx22 sorting nexin 22 JBrowse link 8 71,725,405 71,728,729 RGD:8554872
G Sp7 Sp7 transcription factor JBrowse link 7 143,957,316 143,967,488 RGD:8554872
G Sparc secreted protein acidic and cysteine rich JBrowse link 10 40,742,390 40,764,232 RGD:11554173
osteogenesis imperfecta type 1 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:8554872
RGD:7240710
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:8554872
G Itga3 integrin subunit alpha 3 JBrowse link 10 82,855,841 82,887,755 RGD:8554872
G Pdk2 pyruvate dehydrogenase kinase 2 JBrowse link 10 82,838,270 82,852,758 RGD:8554872
G Ppp1r9b protein phosphatase 1, regulatory subunit 9B JBrowse link 10 82,800,704 82,816,735 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:8554872
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:8554872
G Samd14 sterile alpha motif domain containing 14 JBrowse link 10 82,820,457 82,838,046 RGD:8554872
G Sgca sarcoglycan, alpha JBrowse link 10 82,770,905 82,785,142 RGD:8554872
osteogenesis imperfecta type 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Serpinh1 serpin family H member 1 JBrowse link 1 164,301,010 164,308,306 RGD:7240710
RGD:8554872
osteogenesis imperfecta type 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkbp10 FKBP prolyl isomerase 10 JBrowse link 10 88,326,337 88,338,199 RGD:7240710
RGD:8554872
G Sp7 Sp7 transcription factor JBrowse link 7 143,957,316 143,967,488 RGD:8554872
osteogenesis imperfecta type 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkbp10 FKBP prolyl isomerase 10 JBrowse link 10 88,326,337 88,338,199 RGD:8554872
G Serpinf1 serpin family F member 1 JBrowse link 10 62,241,750 62,254,145 RGD:8554872
G Sp7 Sp7 transcription factor JBrowse link 7 143,957,316 143,967,488 RGD:7240710
RGD:8554872
osteogenesis imperfecta type 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp1 bone morphogenetic protein 1 JBrowse link 15 52,166,401 52,210,786 RGD:7240710
RGD:8554872
osteogenesis imperfecta type 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem38b transmembrane protein 38B JBrowse link 5 70,639,156 70,675,055 RGD:7240710
osteogenesis imperfecta type 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wnt1 Wnt family member 1 JBrowse link 7 140,464,999 140,469,046 RGD:7240710
RGD:8554872
G Wnt10b Wnt family member 10B JBrowse link 7 140,448,284 140,466,159 RGD:8554872
osteogenesis imperfecta type 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Creb3l1 cAMP responsive element binding protein 3-like 1 JBrowse link 3 80,892,433 80,933,283 RGD:8554872
RGD:7240710
osteogenesis imperfecta type 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sparc secreted protein acidic and cysteine rich JBrowse link 10 40,742,390 40,764,232 RGD:7240710
RGD:8554872
Osteogenesis Imperfecta Type 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tent5a terminal nucleotidyltransferase 5A JBrowse link 8 92,935,474 92,942,267 RGD:8554872
RGD:7240710
Osteogenesis Imperfecta Type 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mbtps2 membrane-bound transcription factor peptidase, site 2 JBrowse link X 40,258,933 40,309,047 RGD:8554872
RGD:7240710
osteogenesis imperfecta type 2 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:7240710
RGD:8554872
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:7240710
RGD:8554872
G Smpd3 sphingomyelin phosphodiesterase 3 JBrowse link 19 38,237,963 38,321,572 RGD:13592920
osteogenesis imperfecta type 2C 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:8554872
osteogenesis imperfecta type 3 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:7240710
RGD:8554872
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:7240710
RGD:8554872
G Smpd3 sphingomyelin phosphodiesterase 3 JBrowse link 19 38,237,963 38,321,572 RGD:13592920
osteogenesis imperfecta type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cbs cystathionine beta synthase JBrowse link 20 10,361,987 10,386,663 RGD:8554872
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:7240710
RGD:8554872
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:7240710
RGD:8554872
G Col4a1 collagen type IV alpha 1 chain JBrowse link 16 83,522,162 83,632,153 RGD:8554872
G Glyctk glycerate kinase JBrowse link 8 114,846,210 114,853,374 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:8554872
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:8554872
osteogenesis imperfecta type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ifitm5 interferon induced transmembrane protein 5 JBrowse link 1 213,743,331 213,749,879 RGD:7240710
RGD:8554872
G Suco SUN domain containing ossification factor JBrowse link 13 79,736,485 79,801,133 RGD:13592920
osteogenesis imperfecta type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Serpinf1 serpin family F member 1 JBrowse link 10 62,241,750 62,254,145 RGD:7240710
RGD:8554872
osteogenesis imperfecta type 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crtap cartilage associated protein JBrowse link 8 122,382,613 122,402,209 RGD:7240710
RGD:8554872
osteogenesis imperfecta type 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G P3h1 prolyl 3-hydroxylase 1 JBrowse link 5 138,279,597 138,294,280 RGD:7240710
RGD:8554872
osteogenesis imperfecta type 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ppib peptidylprolyl isomerase B JBrowse link 8 71,719,681 71,725,538 RGD:7240710
RGD:8554872
G Snx22 sorting nexin 22 JBrowse link 8 71,725,405 71,728,729 RGD:8554872
Osteoglophonic Dwarfism 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:7240710
RGD:8554872
RGD:11567266
osteopathia striata with cranial sclerosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Amer1 APC membrane recruitment protein 1 JBrowse link X 64,686,620 64,702,504 RGD:7240710
RGD:8554872
RGD:11554173
Osteopenic Nonfracture Syndrome 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:8554872
osteopetrosis 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:1600698
G Cebpa CCAAT/enhancer binding protein alpha JBrowse link 1 91,363,492 91,366,164 RGD:10401187
G Clcn7 chloride voltage-gated channel 7 JBrowse link 10 14,492,844 14,518,167 RGD:737783
RGD:11554173
RGD:8554872
G Csf1 colony stimulating factor 1 JBrowse link 2 210,522,370 210,550,546 RGD:628338
RGD:13592920
G Csf1tl colony stimulating factor 1; tooth less mutant RGD:628338
G Ctsk cathepsin K JBrowse link 2 196,655,469 196,666,447 RGD:734856
G Fermt3 fermitin family member 3 JBrowse link 1 222,254,183 222,272,775 RGD:11554173
G Fosl1 FOS like 1, AP-1 transcription factor subunit JBrowse link 1 220,826,560 220,835,066 RGD:737712
G Ghr growth hormone receptor JBrowse link 2 53,149,225 53,413,954 RGD:2307374
G Jun Jun proto-oncogene, AP-1 transcription factor subunit JBrowse link 5 114,011,184 114,014,277 RGD:1549450
G Lrp5 LDL receptor related protein 5 JBrowse link 1 218,816,833 218,920,147 RGD:8554872
G Lrrk1 leucine-rich repeat kinase 1 JBrowse link 1 127,166,866 127,301,053 RGD:13592920
G Mitf melanocyte inducing transcription factor JBrowse link 4 130,172,484 130,425,496 RGD:13592920
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 JBrowse link 1 219,141,289 219,144,610 RGD:8554872
G Ostm1 osteoclastogenesis associated transmembrane protein 1 JBrowse link 20 47,394,979 47,430,304 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:8554872
G Tnfrsf11a TNF receptor superfamily member 11A JBrowse link 13 25,778,306 25,835,802 RGD:8554872
G Tnfsf11 TNF superfamily member 11 JBrowse link 15 60,482,527 60,512,704 RGD:11554173
RGD:8554872
Osteopoikilosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lemd3 LEM domain containing 3 JBrowse link 7 62,976,671 63,045,860 RGD:8554872
osteoporosis-pseudoglioma syndrome 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
RGD:12792280
RGD:12792277
RGD:11554173
osteosclerosis 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 Tbce tubulin folding cofactor E JBrowse link 17 53,983,126 54,029,028 RGD:11554173
OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrrk1 leucine-rich repeat kinase 1 JBrowse link 1 127,166,866 127,301,053 RGD:8554872
Oto-Palato-Digital Syndrome Type 1 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:1598954
RGD:11554173
G Ofd1 OFD1, centriole and centriolar satellite protein JBrowse link X 29,562,165 29,602,934 RGD:11554173
Oto-Palato-Digital Syndrome, Type 2 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:1598954
RGD:11554173
Otopalatodigital Spectrum Disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:8554872
RGD:11565126
otospondylomegaepiphyseal dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a2 collagen type XI alpha 2 chain JBrowse link 20 3,829,324 3,859,022 RGD:7240710
RGD:8554872
RGD:12904710
RGD:11554173
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:8554872
RGD:11554173
Parietal Foramina with Cleidocranial Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Msx2 msh homeobox 2 JBrowse link 17 11,683,862 11,689,527 RGD:7240710
RGD:8554872
Pierre Robin Syndrome with Fetal Chondrodysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a2 collagen type XI alpha 2 chain JBrowse link 20 3,829,324 3,859,022 RGD:7240710
RGD:8554872
RGD:12904710
Platyspondylic Lethal Skeletal Dysplasia, Torrance 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:7240710
RGD:8554872
RGD:11667102
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trem2 triggering receptor expressed on myeloid cells 2 JBrowse link 9 14,611,541 14,618,076 RGD:8554872
RGD:7240710
Prenatal Cortical Hyperostosis, Lethal 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:8554872
progressive pseudorheumatoid arthropathy of childhood term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccn6 cellular communication network factor 6 JBrowse link 20 44,237,491 44,255,064 RGD:7240710
RGD:8554872
pseudoachondroplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Comp cartilage oligomeric matrix protein JBrowse link 16 20,798,437 20,807,070 RGD:7240710
RGD:8554872
RGD:11554173
pycnodysostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctsk cathepsin K JBrowse link 2 196,655,469 196,666,447 RGD:734856
RGD:8554872
RGD:11554173
RGD:7240710
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:8548826
Raine Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam20c FAM20C, golgi associated secretory pathway kinase JBrowse link 12 17,913,771 17,972,733 RGD:7240710
RGD:8554872
RGD:11560486
rhizomelic chondrodysplasia punctata term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agps alkylglycerone phosphate synthase JBrowse link 3 62,648,352 62,749,250 RGD:1300366
RGD:8554872
G Gnpat glyceronephosphate O-acyltransferase JBrowse link 19 57,614,813 57,640,524 RGD:8554872
G Pex5 peroxisomal biogenesis factor 5 JBrowse link 4 156,983,914 157,009,675 RGD:8554872
G Pex7 peroxisomal biogenesis factor 7 JBrowse link 1 15,311,768 15,374,702 RGD:11554173
RGD:8554872
rhizomelic chondrodysplasia punctata type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex7 peroxisomal biogenesis factor 7 JBrowse link 1 15,311,768 15,374,702 RGD:7240710
RGD:8554872
RGD:13208515
RGD:11554173
rhizomelic chondrodysplasia punctata type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnpat glyceronephosphate O-acyltransferase JBrowse link 19 57,614,813 57,640,524 RGD:7240710
RGD:8554872
rhizomelic chondrodysplasia punctata type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agps alkylglycerone phosphate synthase JBrowse link 3 62,648,352 62,749,250 RGD:7240710
RGD:8554872
rhizomelic chondrodysplasia punctata type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex5 peroxisomal biogenesis factor 5 JBrowse link 4 156,983,914 157,009,675 RGD:7240710
RGD:8554872
Richieri Costa Pereira Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eif4a3 eukaryotic translation initiation factor 4A3 JBrowse link 10 108,415,201 108,425,195 RGD:7240710
RGD:8554872
Roifman Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clasp1 cytoplasmic linker associated protein 1 JBrowse link 13 34,365,038 34,584,651 RGD:8554872
SADDAN 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
RGD:7240710
Saldino-Noonan syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 8 5,217,054 5,436,969 RGD:8554872
G Xpa XPA, DNA damage recognition and repair factor JBrowse link 5 61,749,767 61,793,641 RGD:8554872
SAPHO syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdkal1 CDK5 regulatory subunit associated protein 1-like 1 JBrowse link 17 36,451,031 37,157,882 RGD:11554173
G Mdm2 MDM2 proto-oncogene JBrowse link 7 60,719,060 60,743,618 RGD:11554173
G Pstpip2 proline-serine-threonine phosphatase-interacting protein 2 JBrowse link 18 74,173,809 74,291,188 RGD:11554173
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:11554173
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:11554173
SAUL-WILSON SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cog4 component of oligomeric golgi complex 4 JBrowse link 19 43,358,057 43,391,828 RGD:8554872
RGD:7240710
Schimke immuno-osseous dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smarcal1 Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 JBrowse link 9 79,943,775 79,990,230 RGD:1599053
RGD:8554872
RGD:11554173
RGD:7240710
Schmid metaphyseal chondrodysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col10a1 collagen type X alpha 1 chain JBrowse link 20 41,180,295 41,190,664 RGD:7240710
RGD:8554872
RGD:11554173
G Nt5dc1 5'-nucleotidase domain containing 1 JBrowse link 20 41,106,990 41,209,765 RGD:8554872
schneckenbecken dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc35d1 solute carrier family 35 member D1 JBrowse link 5 122,700,396 122,746,815 RGD:7240710
RGD:8554872
Schwartz-Jampel syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hspg2 heparan sulfate proteoglycan 2 JBrowse link 5 155,812,096 155,913,751 RGD:7240710
RGD:8554872
G Ldlrad2 low density lipoprotein receptor class A domain containing 2 JBrowse link 5 155,914,517 155,922,269 RGD:8554872
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc10a7 solute carrier family 10, member 7 JBrowse link 19 32,857,984 33,081,359 RGD:7240710
short-rib thoracic dysplasia 10 with or without polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift172 intraflagellar transport 172 JBrowse link 6 26,390,686 26,485,459 RGD:7240710
RGD:8554872
G Krtcap3 keratinocyte associated protein 3 JBrowse link 6 26,485,126 26,486,695 RGD:8554872
short-rib thoracic dysplasia 11 with or without polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sptan1 spectrin, alpha, non-erythrocytic 1 JBrowse link 3 8,534,437 8,599,259 RGD:8554872
G Wdr34 WD repeat domain 34 JBrowse link 3 8,599,251 8,615,329 RGD:7240710
RGD:8554872
short-rib thoracic dysplasia 13 with or without polydactyly 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:7240710
RGD:8554872
short-rib thoracic dysplasia 14 with polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC690035 similar to Protein KIAA0586 JBrowse link 6 93,562,775 93,667,857 RGD:8554872
RGD:7240710
Short-Rib Thoracic Dysplasia 15 with Polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcg5 ATP binding cassette subfamily G member 5 JBrowse link 6 7,935,771 7,961,207 RGD:8554872
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 JBrowse link 6 7,900,962 7,933,795 RGD:8554872
RGD:7240710
Short-Rib Thoracic Dysplasia 16 with or without Polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift52 intraflagellar transport 52 JBrowse link 3 159,388,868 159,413,358 RGD:8554872
RGD:7240710
Short-Rib Thoracic Dysplasia 17 with or without Polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tctex1d2 Tctex1 domain containing 2 JBrowse link 11 71,593,302 71,601,662 RGD:8554872
RGD:7240710
short-rib thoracic dysplasia 18 with polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift43 intraflagellar transport 43 JBrowse link 6 109,939,323 110,016,646 RGD:8554872
RGD:7240710
short-rib thoracic dysplasia 19 with or without polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift81 intraflagellar transport 81 JBrowse link 12 39,420,161 39,507,412 RGD:8554872
RGD:7240710
Short-Rib Thoracic Dysplasia 20 with Polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Intu inturned planar cell polarity protein JBrowse link 2 127,589,325 127,611,705 RGD:8554872
RGD:7240710
G Wdr35 WD repeat domain 35 JBrowse link 6 34,094,291 34,152,048 RGD:8554872
short-rib thoracic dysplasia 6 with or without polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 8 5,217,054 5,436,969 RGD:8554872
G Nek1 NIMA-related kinase 1 JBrowse link 16 32,321,010 32,439,421 RGD:7240710
RGD:8554872
G Xpa XPA, DNA damage recognition and repair factor JBrowse link 5 61,749,767 61,793,641 RGD:8554872
short-rib thoracic dysplasia 7 with or without polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr35 WD repeat domain 35 JBrowse link 6 34,094,291 34,152,048 RGD:7240710
RGD:8554872
short-rib thoracic dysplasia 8 with or without polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr60 WD repeat domain 60 JBrowse link 6 144,069,077 144,124,975 RGD:7240710
RGD:8554872
short-rib thoracic dysplasia 9 with or without polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift140 intraflagellar transport 140 JBrowse link 10 14,373,668 14,461,509 RGD:7240710
RGD:8554872
Silverman-Handmaker type dyssegmental dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hspg2 heparan sulfate proteoglycan 2 JBrowse link 5 155,812,096 155,913,751 RGD:7240710
RGD:8554872
RGD:11554173
G Ldlrad2 low density lipoprotein receptor class A domain containing 2 JBrowse link 5 155,914,517 155,922,269 RGD:8554872
Smith-McCort dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dym dymeclin JBrowse link 18 70,996,074 71,313,033 RGD:7240710
RGD:8554872
G Rab33b RAB33B, member RAS oncogene family JBrowse link 2 140,541,619 140,552,220 RGD:8554872
RGD:13592920
Smith-McCort Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab33b RAB33B, member RAS oncogene family JBrowse link 2 140,541,619 140,552,220 RGD:7240710
RGD:8554872
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nkx3-2 NK3 homeobox 2 JBrowse link 14 73,813,531 73,818,489 RGD:7240710
RGD:8554872
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc39a13 solute carrier family 39 member 13 JBrowse link 3 79,884,524 79,892,664 RGD:7240710
RGD:8554872
RGD:11553863
Spondyloenchondrodysplasia 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:11554173
spondyloepimetaphyseal dysplasia 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:13592920
G Ddr2 discoidin domain receptor tyrosine kinase 2 JBrowse link 13 88,311,639 88,436,561 RGD:8554872
G Mmp13 matrix metallopeptidase 13 JBrowse link 8 5,522,739 5,533,018 RGD:8554872
Spondyloepimetaphyseal Dysplasia with Joint Laxity term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3galt6 Beta-1,3-galactosyltransferase 6 JBrowse link 5 173,423,475 173,425,611 RGD:8554872
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3galt6 Beta-1,3-galactosyltransferase 6 JBrowse link 5 173,423,475 173,425,611 RGD:7240710
RGD:8554872
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif22 kinesin family member 22 JBrowse link 1 198,461,406 198,476,430 RGD:7240710
RGD:8554872
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Exoc6b exocyst complex component 6B JBrowse link 4 116,314,695 116,786,466 RGD:7240710
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rspry1 ring finger and SPRY domain containing 1 JBrowse link 19 10,770,572 10,826,895 RGD:8554872
RGD:7240710
Spondyloepimetaphyseal Dysplasia, Genevieve Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nans N-acetylneuraminate synthase JBrowse link 5 62,109,352 62,126,492 RGD:8554872
RGD:7240710
G Trim14 tripartite motif-containing 14 JBrowse link 5 62,128,941 62,154,424 RGD:8554872
Spondyloepimetaphyseal Dysplasia, Krakow Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sik3 SIK family kinase 3 JBrowse link 8 50,310,263 50,520,284 RGD:8554872
RGD:7240710
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Matn3 matrilin 3 JBrowse link 6 34,071,428 34,091,048 RGD:7240710
RGD:8554872
spondyloepimetaphyseal dysplasia, Missouri type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mmp13 matrix metallopeptidase 13 JBrowse link 8 5,522,739 5,533,018 RGD:7240710
RGD:8554872
spondyloepimetaphyseal dysplasia, Pakistani type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Papss2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 JBrowse link 1 251,145,264 251,230,716 RGD:7240710
RGD:8554872
Spondyloepimetaphyseal Dysplasia, Shohat Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ddrgk1 DDRGK domain containing 1 JBrowse link 3 123,195,580 123,206,828 RGD:8554872
RGD:7240710
spondyloepimetaphyseal dysplasia, Strudwick 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:7240710
RGD:8554872
G Fn1 fibronectin 1 JBrowse link 9 78,900,111 78,969,018 RGD:8554872
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:8554872
Spondyloepimetaphyseal Dysplasia, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bgn biglycan JBrowse link X 157,319,042 157,331,204 RGD:8554872
RGD:7240710
spondyloepiphyseal dysplasia congenita term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst3 carbohydrate sulfotransferase 3 JBrowse link 20 29,731,828 29,768,656 RGD:8554872
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:7240710
RGD:8554872
RGD:11667105
RGD:8657353
RGD:729929
G Hapln1 hyaluronan and proteoglycan link protein 1 JBrowse link 2 18,354,542 18,419,077 RGD:13592920
G Trappc2 trafficking protein particle complex 2 JBrowse link X 29,550,871 29,562,135 RGD:8554872
spondyloepiphyseal dysplasia tarda 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 Trappc2 trafficking protein particle complex 2 JBrowse link X 29,550,871 29,562,135 RGD:8554872
RGD:7240710
spondyloepiphyseal dysplasia with congenital joint dislocations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst3 carbohydrate sulfotransferase 3 JBrowse link 20 29,731,828 29,768,656 RGD:7240710
RGD:8554872
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:8554872
G Trappc2 trafficking protein particle complex 2 JBrowse link X 29,550,871 29,562,135 RGD:8554872
Spondyloepiphyseal Dysplasia, Kimberley Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acan aggrecan JBrowse link 1 140,762,758 140,824,441 RGD:7240710
RGD:8554872
RGD:11570524
Spondyloepiphyseal Dysplasia, Maroteaux Type 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
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU 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:7240710
RGD:8554872
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ddr2 discoidin domain receptor tyrosine kinase 2 JBrowse link 13 88,311,639 88,436,561 RGD:7240710
RGD:8554872
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcyt1a phosphate cytidylyltransferase 1, choline, alpha JBrowse link 11 71,547,865 71,592,037 RGD:7240710
RGD:8554872
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fn1 fibronectin 1 JBrowse link 9 78,900,111 78,969,018 RGD:8554872
RGD:7240710
Spondylometaphyseal Dysplasia, Axial term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cfap410 cilia and flagella associated protein 410 JBrowse link 20 11,417,428 11,424,301 RGD:8554872
Spondylometaphyseal Dysplasia, Kozlowski Type 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
Spondylometaphyseal Dysplasia, Sedaghatian Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpx4 glutathione peroxidase 4 JBrowse link 7 12,516,357 12,519,154 RGD:8554872
RGD:7240710
Spondyloocular Syndrome, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Xylt2 xylosyltransferase 2 JBrowse link 10 82,386,003 82,399,485 RGD:8554872
Spondyloperipheral Dysplasia 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
Stuve-Wiedemann Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hspg2 heparan sulfate proteoglycan 2 JBrowse link 5 155,812,096 155,913,751 RGD:8554872
G Lifr LIF receptor subunit alpha JBrowse link 2 56,424,910 56,489,346 RGD:7240710
RGD:8554872
RGD:11554173
TARP Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rbm10 RNA binding motif protein 10 JBrowse link X 1,754,869 1,786,973 RGD:7240710
RGD:8554872
Ter Haar 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:7240710
RGD:8554872
Terminal Osseous Dysplasia and Pigmentary Defects 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
thanatophoric dysplasia 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:2289863
RGD:8554872
RGD:12910972
RGD:11568030
RGD:11554173
G Hspg2 heparan sulfate proteoglycan 2 JBrowse link 5 155,812,096 155,913,751 RGD:13592920
Thanatophoric Dysplasia, Type 2 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
Thanatophoric Dysplasia, Type I 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
RGD:7240710
Trichorhinophalangeal Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trps1 transcriptional repressor GATA binding 1 JBrowse link 7 90,085,895 90,320,430 RGD:8554872
trichorhinophalangeal syndrome type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aard alanine and arginine rich domain containing protein JBrowse link 7 91,588,458 91,593,299 RGD:8554872
G Acadl acyl-CoA dehydrogenase, long chain JBrowse link 9 73,833,368 73,871,857 RGD:8554872
G Anxa13 annexin A13 JBrowse link 7 98,217,642 98,270,442 RGD:8554872
G Atad2 ATPase family, AAA domain containing 2 JBrowse link 7 97,984,754 98,027,379 RGD:8554872
G Ccn3 cellular communication network factor 3 JBrowse link 7 94,375,134 94,382,154 RGD:8554872
G Col14a1 collagen type XIV alpha 1 chain JBrowse link 7 95,054,877 95,274,073 RGD:8554872
G Colec10 collectin subfamily member 10 JBrowse link 7 93,975,451 94,035,999 RGD:8554872
G Cps1 carbamoyl-phosphate synthase 1 JBrowse link 9 74,113,437 74,236,274 RGD:8554872
G Deptor DEP domain containing MTOR-interacting protein JBrowse link 7 94,795,161 95,000,750 RGD:8554872
G Derl1 derlin 1 JBrowse link 7 97,737,176 97,759,852 RGD:8554872
G Dscc1 DNA replication and sister chromatid cohesion 1 JBrowse link 7 94,759,076 94,774,787 RGD:8554872
G Eif3h eukaryotic translation initiation factor 3, subunit H JBrowse link 6 10,151,732 10,236,677 RGD:8554872
G Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 JBrowse link 7 94,479,931 94,563,086 RGD:8554872
G Erbb4 erb-b2 receptor tyrosine kinase 4 JBrowse link 9 75,021,790 76,178,936 RGD:8554872
G Ext1 exostosin glycosyltransferase 1 JBrowse link 7 92,605,008 92,881,392 RGD:8554872
G Fam83a family with sequence similarity 83, member A JBrowse link 7 97,855,773 97,880,227 RGD:8554872
G Fam91a1 family with sequence similarity 91, member A1 JBrowse link 7 98,302,803 98,341,201 RGD:8554872
G Fbxo32 F-box protein 32 JBrowse link 7 98,065,664 98,098,071 RGD:8554872
G Fer1l6 fer-1-like family member 6 JBrowse link 7 98,399,207 98,555,215 RGD:8554872
G Has2 hyaluronan synthase 2 JBrowse link 7 96,438,046 96,464,049 RGD:8554872
G Ikzf2 IKAROS family zinc finger 2 JBrowse link 9 76,621,230 76,771,017 RGD:8554872
G Kansl1l KAT8 regulatory NSL complex subunit 1-like JBrowse link 9 73,710,959 73,819,335 RGD:8554872
G Klhl38 kelch-like family member 38 JBrowse link 7 98,187,954 98,197,163 RGD:8554872
G Lancl1 LanC like 1 JBrowse link 9 74,018,192 74,048,098 RGD:8554872
G Lratd2 LRAT domain containing 2 JBrowse link 7 101,138,188 101,142,123 RGD:8554872
G Mal2 mal, T-cell differentiation protein 2 JBrowse link 7 94,130,852 94,163,649 RGD:8554872
G Map2 microtubule-associated protein 2 JBrowse link 9 73,204,753 73,462,965 RGD:8554872
G Med30 mediator complex subunit 30 JBrowse link 7 92,234,584 92,260,019 RGD:8554872
G Mrpl13 mitochondrial ribosomal protein L13 JBrowse link 7 95,288,400 95,309,997 RGD:8554872
G Mtbp MDM2 binding protein JBrowse link 7 95,309,928 95,392,418 RGD:8554872
G Mtss1 MTSS I-BAR domain containing 1 JBrowse link 7 98,820,799 98,960,878 RGD:8554872
G Myc MYC proto-oncogene, bHLH transcription factor JBrowse link 7 102,586,313 102,591,240 RGD:8554872
G Myl1 myosin, light chain 1 JBrowse link 9 73,937,820 73,958,480 RGD:8554872
G Ndufb9 NADH:ubiquinone oxidoreductase subunit B9 JBrowse link 7 98,813,062 98,819,408 RGD:8554872
G Nsmce2 NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase JBrowse link 7 99,677,295 99,900,765 RGD:8554872
G Pvt1 Pvt1 oncogene JBrowse link 7 102,648,394 102,871,316 RGD:8554872
G Rad21 RAD21 cohesin complex component JBrowse link 7 91,511,755 91,538,673 RGD:8554872
G RGD1310852 similar to RIKEN cDNA 9130401M01 JBrowse link 7 97,891,723 97,902,585 RGD:8554872
G Rnf139 ring finger protein 139 JBrowse link 7 98,770,840 98,782,025 RGD:8554872
G Rpe ribulose-5-phosphate-3-epimerase JBrowse link 9 73,687,684 73,713,643 RGD:8554872
G Samd12 sterile alpha motif domain containing 12 JBrowse link 7 92,995,599 93,286,757 RGD:8554872
G Slc30a8 solute carrier family 30 member 8 JBrowse link 7 91,832,988 91,869,329 RGD:8554872
G Sntb1 syntrophin, beta 1 JBrowse link 7 95,395,417 95,670,093 RGD:8554872
G Spag16 sperm associated antigen 16 JBrowse link 9 77,027,626 77,833,476 RGD:8554872
G Sqle squalene epoxidase JBrowse link 7 99,609,929 99,624,803 RGD:8554872
G Taf2 TATA-box binding protein associated factor 2 JBrowse link 7 94,698,987 94,755,924 RGD:8554872
G Tatdn1 TatD DNase domain containing 1 JBrowse link 7 98,782,164 98,813,001 RGD:8554872
G Tbc1d31 TBC1 domain family, member 31 JBrowse link 7 97,778,260 97,839,668 RGD:8554872
G Tmem65 transmembrane protein 65 JBrowse link 7 98,668,589 98,709,613 RGD:8554872
G Tnfrsf11b TNF receptor superfamily member 11B JBrowse link 7 93,798,580 93,826,586 RGD:8554872
G Trib1 tribbles pseudokinase 1 JBrowse link 7 99,954,492 99,961,026 RGD:8554872
G Trmt12 tRNA methyltransferase 12 JBrowse link 7 98,748,547 98,750,173 RGD:8554872
G Trps1 transcriptional repressor GATA binding 1 JBrowse link 7 90,085,895 90,320,430 RGD:7240710
RGD:8554872
G Unc80 unc-80 homolog, NALCN channel complex subunit JBrowse link 9 73,492,907 73,686,578 RGD:8554872
G Utp23 UTP23, small subunit processome component JBrowse link 7 91,384,329 91,389,605 RGD:8554872
G Washc5 WASH complex subunit 5 JBrowse link 7 99,625,379 99,677,237 RGD:8554872
G Wdyhv1 WDYHV motif containing 1 JBrowse link 7 97,957,022 97,977,158 RGD:8554872
G Zhx1 zinc fingers and homeoboxes 1 JBrowse link 7 97,915,280 97,944,787 RGD:8554872
G Zhx2 zinc fingers and homeoboxes 2 JBrowse link 7 97,559,653 97,707,872 RGD:8554872
trichorhinophalangeal syndrome type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ext1 exostosin glycosyltransferase 1 JBrowse link 7 92,605,008 92,881,392 RGD:8554872
RGD:7240710
G Trps1 transcriptional repressor GATA binding 1 JBrowse link 7 90,085,895 90,320,430 RGD:11554173
trichorhinophalangeal syndrome type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trps1 transcriptional repressor GATA binding 1 JBrowse link 7 90,085,895 90,320,430 RGD:7240710
RGD:8554872
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia 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
Weissenbacher-Zweymuller syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acadvl acyl-CoA dehydrogenase, very long chain JBrowse link 10 56,619,321 56,624,468 RGD:8554872
G Acap1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 JBrowse link 10 56,492,300 56,506,446 RGD:8554872