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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Bone Fractures
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Accession:DOID:9002589 term browser browse the term
Definition:Breaks in bones.
Synonyms:exact_synonym: Bone Fracture;   Broken Bone;   Broken Bones
 narrow_synonym: Recurrent fractures;   Spiral Fracture;   Spiral Fractures;   Torsion Fracture;   Torsion Fractures;   foot fracture;   fracture of pelvis
 primary_id: MESH:D050723
 xref: EFO:0003931;   EFO:0009618;   EFO:0009622


show annotations for term's descendants           Sort by:
Bone Fractures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alox5 arachidonate 5-lipoxygenase IMP RGD PMID:19884440 RGD:2317529 NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO associated with kidney failure, chronic; RGD PMID:21784896 RGD:7207231 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495 		JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO CTD Direct Evidence: therapeutic CTD PMID:27394662 NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397 		JBrowse link
G Bmp7 bone morphogenetic protein 7 ISO CTD Direct Evidence: therapeutic CTD PMID:27394662 NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788 		JBrowse link
G Ccdc134 coiled-coil domain containing 134 ISO ClinVar Annotator: match by term: Recurrent fractures ClinVar PMID:25741868 PMID:32181939 PMID:34204301 PMID:35019224 NCBI chr 7:113,644,557...113,659,050
Ensembl chr 7:113,644,639...113,659,050 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Recurrent fractures ClinVar
RGD		 PMID:25741868 PMID:8432871 RGD:734801 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Dkk1 dickkopf WNT signaling pathway inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22504420 NCBI chr 1:228,381,521...228,385,202
Ensembl chr 1:228,381,521...228,385,202 		JBrowse link
G Esr1 estrogen receptor 1 no_association ISO DNA:SNP:intron:rs9340799 (human)
DNA:SNP, repeat:promoter:rs2234693 (human)		 RGD PMID:15523071 PMID:15523071 RGD:10045827, RGD:10045827 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Fam210a family with sequence similarity 210, member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22504420 NCBI chr18:61,846,447...61,886,123
Ensembl chr18:61,852,907...61,886,171 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO associated with Diabetes Mellitus, Experimental RGD PMID:8033826 RGD:2315907 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221 		JBrowse link
G Fkbp10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: Recurrent fractures ClinVar PMID:20362275 PMID:20839288 PMID:21567934 PMID:22689593 PMID:22949511 More... NCBI chr10:85,345,434...85,357,998
Ensembl chr10:85,346,126...85,427,330 		JBrowse link
G Gdf2 growth differentiation factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:27394662 NCBI chr16:9,255,430...9,261,429
Ensembl chr16:9,255,430...9,261,429 		JBrowse link
G Gpt glutamic--pyruvic transaminase IEP protein:increased expression:serum RGD PMID:6140133 RGD:401717526 NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494 		JBrowse link
G Irx5 iroquois homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chr19:14,639,052...14,643,911
Ensembl chr19:14,624,225...14,642,318 		JBrowse link
G Lrp5 LDL receptor related protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22504420 NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581 		JBrowse link
G Mepe matrix extracellular phosphoglycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22504420 NCBI chr14:5,420,634...5,432,186
Ensembl chr14:5,420,635...5,432,183 		JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO RGD PMID:21788831 RGD:6771211 NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP RGD PMID:18795192 RGD:5135218 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Pth parathyroid hormone ISO associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human)
CTD Direct Evidence: therapeutic		 CTD
RGD		 PMID:16094769 PMID:23043229 RGD:7242731 NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530 		JBrowse link
G Runx1 RUNX family transcription factor 1 IEP RGD PMID:21252473 RGD:11252151 NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542 		JBrowse link
G Runx2 RUNX family transcription factor 2 IEP RGD PMID:21252473 RGD:11252151 NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167 		JBrowse link
G Slc25a13 solute carrier family 25 member 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22504420 NCBI chr 4:34,179,224...34,361,912
Ensembl chr 4:34,179,224...34,361,902 		JBrowse link
G Smad6 SMAD family member 6 IEP RGD PMID:11920662 RGD:724455 NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763 		JBrowse link
G Sox9 SRY-box transcription factor 9 IEP RGD PMID:21252473 RGD:11252151 NCBI chr10:97,806,485...97,811,994
Ensembl chr10:97,806,485...97,811,994 		JBrowse link
G Sptbn1 spectrin, beta, non-erythrocytic 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22504420 NCBI chr14:103,841,713...104,016,900
Ensembl chr14:103,842,684...104,008,507 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20358619 NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15071724 NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206 		JBrowse link
Closed Fractures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alox5 arachidonate 5-lipoxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19544365 NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743 		JBrowse link
G Cysltr1 cysteinyl leukotriene receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19544365 NCBI chr  X:71,661,421...71,690,012
Ensembl chr  X:71,663,821...71,690,121 		JBrowse link
congenital myopathy 9A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fxr1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: Myopathy, congenital, with respiratory insufficiency and bone fractures OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30770808 NCBI chr 2:116,884,167...116,937,590
Ensembl chr 2:116,884,248...116,937,590 		JBrowse link
Femoral Fractures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvr2a activin A receptor type 2A IEP RGD PMID:9076583 RGD:2325239 NCBI chr 3:33,204,961...33,292,673
Ensembl chr 3:33,205,523...33,289,968 		JBrowse link
G Bmp4 bone morphogenetic protein 4 treatment IEP
ISO
IDA		 mRNA:increased expression:upper leg RGD PMID:10701160 PMID:12810166 PMID:15352071 RGD:2289025, RGD:8699510, RGD:9068399 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Bmp7 bone morphogenetic protein 7 IEP
ISO		 CTD Direct Evidence: therapeutic CTD
RGD		 PMID:16234978 PMID:9626398 RGD:2289041 NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788 		JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 IEP RGD PMID:9626398 RGD:2289041 NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809 		JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment IDA RGD PMID:12412812 RGD:8552709 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Csf2 colony stimulating factor 2 IEP protein:increased expression:serum RGD PMID:21442011 RGD:5131471 NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199 		JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 IEP protein:increased expression:lung, serum RGD PMID:21442011 RGD:5131471 NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215 		JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 treatment IEP RGD PMID:25181476 RGD:11352664 NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 IMP RGD PMID:25181476 RGD:11352664 NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883 		JBrowse link
G Dkk1 dickkopf WNT signaling pathway inhibitor 1 IMP RGD PMID:21773994 RGD:6907379 NCBI chr 1:228,381,521...228,385,202
Ensembl chr 1:228,381,521...228,385,202 		JBrowse link
G Fgf2 fibroblast growth factor 2 IEP RGD PMID:11704499 RGD:11567258 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 IEP RGD PMID:11704499 RGD:11567258 NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
G Gdf5 growth differentiation factor 5 treatment ISO RGD PMID:25543012 RGD:12738204 NCBI chr 3:144,454,316...144,458,508
Ensembl chr 3:144,454,338...144,458,612 		JBrowse link
G Il10 interleukin 10 IEP protein:increased expression:serum RGD PMID:21442011 RGD:5131471 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il1a interleukin 1 alpha IEP protein:increased expression:lung, serum RGD PMID:21442011 RGD:5131471 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il2 interleukin 2 IEP protein:increased expression:serum RGD PMID:21442011 RGD:5131471 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Il6 interleukin 6 IEP protein:increased expression:serum RGD PMID:21442011 RGD:5131471 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Lef1 lymphoid enhancer binding factor 1 IEP mRNA:decreased expression:bone RGD PMID:16459154 RGD:2298720 NCBI chr 2:219,666,549...219,779,815
Ensembl chr 2:219,666,592...219,779,794 		JBrowse link
G Lep leptin IEP RGD PMID:21276361 RGD:5128517 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Mir222 microRNA 222 ameliorates
disease_progression		 IMP
IEP		 RGD PMID:27545451 PMID:31691506 RGD:151893485, RGD:151893486 NCBI chr  X:3,428,904...3,429,006
Ensembl chr  X:3,428,904...3,429,006 		JBrowse link
G Msx1 msh homeobox 1 IEP mRNA, protein:increased expression:bone, osteoblast, chondrocyte RGD PMID:16451220 RGD:5132608 NCBI chr14:72,961,036...72,964,970
Ensembl chr14:72,961,148...72,964,966 		JBrowse link
G Msx2 msh homeobox 2 IEP mRNA, protein:increased expression:bone, osteoblast, chondrocyte RGD PMID:16451220 RGD:5132608 NCBI chr17:11,097,214...11,102,879
Ensembl chr17:11,097,103...11,102,879 		JBrowse link
G Nf1 neurofibromin 1 ISO mRNA,protein:increased expression:cartilage" RGD PMID:8820972 RGD:12789703 NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
G Postn periostin IEP mRNA,protein:increased expression:bone: RGD PMID:19006175 RGD:10040956 NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099 		JBrowse link
G S100b S100 calcium binding protein B IEP protein:increased expression:blood RGD PMID:14504167 RGD:5509053 NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743 		JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 disease_progression IEP RGD PMID:31691506 RGD:151893486 NCBI chr 7:17,520,827...17,571,850
Ensembl chr 7:17,521,919...17,571,839 		JBrowse link
Hip Fractures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb3 integrin subunit beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17264806 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679 		JBrowse link
Mandibular Fractures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 IEP mRNA:decreased expression:bone RGD PMID:19607804 RGD:5147852 NCBI chr 1:12,312,426...12,314,869
Ensembl chr 1:12,312,160...12,314,897 		JBrowse link
G Ihh Indian hedgehog signaling molecule IEP RGD PMID:23992905 RGD:12911207 NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532 		JBrowse link
Osteofibrous Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Met MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Osteofibrous dysplasia | ClinVar Annotator: match by term: TIBIA, BOWING OF, WITH PSEUDARTHROSIS AND PECTUS EXCAVATUM | ClinVar Annotator: match by term: Tibia, bowing of, with pseudarthrosis and pectus excavatum
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:1270474 PMID:9234973 PMID:11042681 PMID:12920089 PMID:14559814 More... NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876 		JBrowse link
Osteoporotic Fractures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor susceptibility ISO DNA:repeat:exon:g.6287(CAG)7-34 (human) RGD PMID:14667136 RGD:10043197 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925 		JBrowse link
G Esr1 estrogen receptor 1 IEP
ISO		 DNA:SNPs, haplotypes:introns: (rs9397448, rs2234693, rs1643821) (human) RGD PMID:25085540 PMID:22807154 RGD:10045675, RGD:10045832 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Esr2 estrogen receptor 2 IEP
ISO		 DNA:SNP: :-1213T>C (human)
DNA:SNPs, haplotype:intron, 3' utr:IVS2+520C>T, g.*39G>A (rs1256031, rs4986938) (human)		 RGD PMID:25085540 PMID:16777502 PMID:16939403 RGD:10045675, RGD:1626507, RGD:10045848 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919 		JBrowse link
G Fgf23 fibroblast growth factor 23 ISO RGD PMID:20928885 RGD:10044238 NCBI chr 4:159,914,267...159,923,821
Ensembl chr 4:159,914,272...159,923,821 		JBrowse link
G Gh1 growth hormone 1 treatment ISO RGD PMID:11834155 RGD:10003137 NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078 		JBrowse link
G Igf1 insulin-like growth factor 1 treatment
susceptibility		 IDA
ISO		 protein:decreased expression:serum
DNA:repeat:promoter		 RGD PMID:11834155 PMID:10752709 PMID:16939403 RGD:10003137, RGD:10045863, RGD:10045848 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
Pseudarthrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nf1 neurofibromin 1 IEP mRNA,protein:increased expression:cartilage" RGD PMID:8820972 RGD:12789703 NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: Pseudoarthrosis ClinVar PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More... NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987 		JBrowse link
Rib Fractures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ngf nerve growth factor IEP RGD PMID:9798454 RGD:5144111 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452 		JBrowse link
Skull Fractures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 treatment ISO RGD PMID:16332232 RGD:8699514 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:decreased expression:serum: RGD PMID:12002507 RGD:8548865 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
Spinal Fractures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bglap bone gamma-carboxyglutamate protein disease_progression ISO associated with osteoporosis
associated with Diabetes Mellitus, Type 2;		 RGD PMID:12697366 PMID:19641839 RGD:7207225, RGD:7207248 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495 		JBrowse link
G Cer1 cerberus 1, DAN family BMP antagonist susceptibility ISO DNA:SNPs: :rs3747532, rs1494360(human) RGD PMID:19113921 RGD:35673321 NCBI chr 5:97,306,427...97,309,783
Ensembl chr 5:97,306,431...97,309,783 		JBrowse link
G Esr1 estrogen receptor 1 no_association
susceptibility		 ISO DNA:mutation, SNP:intron, exon: , 274G>C (human)
DNA:SNPs, haplotype:intron:g.-397T>C, g.-351A>G (human)		 RGD PMID:12183765 PMID:12915669 RGD:10045833, RGD:10045836 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO associated with Osteoporosis;protein:decreased expression:serum RGD PMID:9258758 RGD:10402578 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083 		JBrowse link
G Lepr leptin receptor susceptibility ISO DNA:SNP:cds:p.Q223R(human) RGD PMID:17243864 RGD:10411889 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908 		JBrowse link
G S100b S100 calcium binding protein B ISO protein:increased expression:serum RGD PMID:20304889 RGD:5508786 NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743 		JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:mutations, haplotype:intron, exon: (human) RGD PMID:12915669 RGD:10045836 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
Spinal Muscular Atrophy with Congenital Bone Fractures 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trip4 thyroid hormone receptor interactor 4 ISO ClinVar Annotator: match by term: Spinal muscular atrophy with congenital bone fractures 1 | ClinVar Annotator: match by term: TRIP4-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:26924529 PMID:27008887 PMID:28492532 NCBI chr 8:66,351,861...66,439,679
Ensembl chr 8:66,353,248...66,439,774 		JBrowse link
Spinal Muscular Atrophy with Congenital Bone Fractures 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ascc1 activating signal cointegrator 1 complex subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spinal muscular atrophy with congenital bone fractures 2		 OMIM
CTD
ClinVar		 PMID:8677029 PMID:16199547 PMID:21791690 PMID:25741868 PMID:26924529 More... NCBI chr20:27,941,053...28,031,272
Ensembl chr20:27,941,283...28,031,272 		JBrowse link
spondyloepimetaphyseal dysplasia with joint laxity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity ClinVar PMID:23664117 PMID:25741868 PMID:28492532 NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338 		JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Primary bone dysplasia with multiple joint dislocations ClinVar PMID:35325049 NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852 		JBrowse link
G Slc35b2 solute carrier family 35 member B2 ISO ClinVar Annotator: match by term: Primary bone dysplasia with multiple joint dislocations ClinVar PMID:35325049 NCBI chr 9:15,438,594...15,442,227
Ensembl chr 9:15,438,594...15,442,234 		JBrowse link
spondyloepimetaphyseal dysplasia with joint laxity type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:23664117 PMID:23664118 PMID:24766538 PMID:25741868 PMID:27023906 More... NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338 		JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures ClinVar PMID:28492532 NCBI chr 5:166,586,581...166,606,661
Ensembl chr 5:166,586,390...166,604,521 		JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures ClinVar PMID:28492532 NCBI chr 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599 		JBrowse link
spondyloepimetaphyseal dysplasia with joint laxity type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif22 kinesin family member 22 ISO ClinVar Annotator: match by term: KIF22-related condition | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with multiple dislocations OMIM
ClinVar		 PMID:12727876 PMID:19277648 PMID:22152677 PMID:22152678 PMID:25256152 More... NCBI chr 1:181,635,347...181,650,351
Ensembl chr 1:181,635,183...181,650,401 		JBrowse link
spondyloepimetaphyseal dysplasia with joint laxity type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exoc6b exocyst complex component 6B ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 3 OMIM
ClinVar		 PMID:25741868 PMID:26669664 PMID:30284759 NCBI chr 4:117,094,741...117,550,221
Ensembl chr 4:117,094,741...117,550,180 		JBrowse link
spondylometaphyseal dysplasia corner fracture type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO ClinVar Annotator: match by term: FN1-related condition | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia - Sutcliffe type ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia - Sutcliffe type ClinVar PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 More... NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Fn1 fibronectin 1 ISO ClinVar Annotator: match by term: FN1-related condition | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia - Sutcliffe type OMIM
ClinVar		 PMID:1677003 PMID:15666313 PMID:25741868 PMID:28492532 PMID:29100092 More... NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678 		JBrowse link
Spontaneous Fractures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Pathologic fracture ClinVar PMID:8364588 PMID:25741868 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
Stress Fractures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp5 acid phosphatase 5, tartrate resistant IEP protein:increased expression:tibia (rat) RGD PMID:19821772 RGD:2315909 NCBI chr 8:20,663,984...20,670,604
Ensembl chr 8:20,663,985...20,667,929 		JBrowse link
G Eng endoglin disease_progression IEP protein:increased expression:ulna, vasculature (rat) RGD PMID:23044046 RGD:7248788 NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230 		JBrowse link
Tibial Fractures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp2 bone morphogenetic protein 2 IEP protein:increased expression:tibia RGD PMID:16651391 RGD:2289037 NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397 		JBrowse link
G Bmp3 bone morphogenetic protein 3 IEP protein:increased expression:tibia RGD PMID:16651391 RGD:2289037 NCBI chr14:10,712,489...10,737,153
Ensembl chr14:10,712,489...10,737,153 		JBrowse link
G Bmp4 bone morphogenetic protein 4 IEP protein:increased expression:tibia RGD PMID:16651391 RGD:2289037 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Bmp6 bone morphogenetic protein 6 IEP RGD PMID:23097200 RGD:7242189 NCBI chr17:26,318,121...26,469,691
Ensembl chr17:26,318,569...26,470,365 		JBrowse link
G Bmp7 bone morphogenetic protein 7 IEP protein:increased expression:tibia RGD PMID:16651391 RGD:2289037 NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788 		JBrowse link
G Casp1 caspase 1 IEP RGD PMID:19853379 RGD:2315887 NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383 		JBrowse link
G Il18 interleukin 18 IEP protein:increased expression:skin RGD PMID:19853379 RGD:2315887 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Pdgfb platelet derived growth factor subunit B treatment ISO associated with Osteoporosis; RGD PMID:17676626 RGD:10449446 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984 		JBrowse link
G Pgf placental growth factor ISO RGD PMID:16614757 RGD:6483602 NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685 		JBrowse link
G Pth parathyroid hormone ISO human protein in rat model RGD PMID:23585311 RGD:7242790 NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530 		JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11A IEP associated with Diabetes Mellitus, Experimental RGD PMID:18592139 RGD:2302324 NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B IEP associated with Diabetes Mellitus, Experimental RGD PMID:18592139 RGD:2302324 NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538 		JBrowse link
G Tnfsf11 TNF superfamily member 11 IEP associated with Diabetes Mellitus, Experimental RGD PMID:18592139 RGD:2302324 NCBI chr15:53,673,850...53,705,325
Ensembl chr15:53,673,877...53,705,445 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Wounds and Injuries 980
      Bone Fractures 89
        Ankle Fractures 0
        Avulsion Fractures 0
        Chitty Hall Webb Syndrome 0
        Closed Fractures 2
        Femoral Fractures + 27
        Fracture Dislocation + 0
        Fractures, Comminuted 0
        Fractures, Compression 0
        Fractures, Multiple 0
        Humeral Fractures 0
        Infantile Multisystem Neurologic Disease with Osseous Fragility 0
        Intra-Articular Fractures 0
        Malunited Fractures 0
        Open Fractures 0
        Osteoporotic Fractures 6
        Osteosclerosis with Ichthyosis and Fractures 0
        Periprosthetic Fractures 0
        Radius Fractures + 0
        Rib Fractures 1
        Shoulder Fractures + 0
        Skull Fractures + 4
        Spinal Fractures 7
        Spinal Muscular Atrophy with Congenital Bone Fractures + 2
        Spontaneous Fractures 1
        Stress Fractures 2
        Tibial Fractures + 16
        Ulna Fractures + 0
        Ununited Fractures + 3
        clavicle fractures 0
        congenital myopathy 9A 1
        fibula fractures 0
        finger fractures 0
        knee fractures 0
        spondyloepimetaphyseal dysplasia with joint laxity + 7
        wrist fractures 0
paths to the root