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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 resorption disease
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Accession:DOID:0080011 term browser browse the term
Definition:Bone loss due to osteoclastic activity.
Synonyms:exact_synonym: Bone Resorption;   Bone Resorptions;   Osteoclastic Bone Loss;   Osteoclastic Bone Losses
 primary_id: MESH:D001862;   RDO:0004788
For additional species annotation, visit the Alliance of Genome Resources.

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bone resorption disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19934163 NCBI chrNW_004936546:3,737,908...3,783,492 JBrowse link
G Bmp7 bone morphogenetic protein 7 ISO CTD Direct Evidence: therapeutic CTD PMID:17513972 NCBI chrNW_004936530:71,965...143,940 JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:27028940 NCBI chrNW_004936512:5,861,933...5,894,898 JBrowse link
G Ghrl ghrelin and obestatin prepropeptide ISO CTD Direct Evidence: therapeutic CTD PMID:29477364 NCBI chrNW_004936602:3,037,862...3,044,863 JBrowse link
G LOC101954950 aromatase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11985600 NCBI chrNW_004936471:13,107,603...13,136,910 JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:9881647 NCBI chrNW_004936528:5,081,569...5,084,030 JBrowse link
G Pthlh parathyroid hormone like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:16769263 NCBI chrNW_004936760:197,525...209,212 JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11b ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:15845617 PMID:18496637 PMID:23333834 NCBI chrNW_004936470:27,571,263...27,598,725 JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26319416 NCBI chrNW_004936747:1,255,803...1,288,252 JBrowse link
Acro-Osteolysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad4 SMAD family member 4 ISO associated with Juvenile Polyposis Syndrome;DNA:nonsense mutation:exon:p.Y412X (1236C>G) (human) RGD PMID:15990641 RGD:12880041 NCBI chrNW_004936497:12,242,869...12,278,012 JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12913070 PMID:17152860 NCBI chrNW_004936474:22,035,059...22,077,846 JBrowse link
Alveolar Bone Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpl alkaline phosphatase, biomineralization associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:20630305 NCBI chrNW_004936474:7,209,196...7,229,899 JBrowse link
G Il10 interleukin 10 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:26270535 RGD:11049527 NCBI chrNW_004936557:5,834,874...5,838,502 JBrowse link
G Parp1 poly(ADP-ribose) polymerase 1 ISO RGD PMID:14630900 RGD:10413909 NCBI chrNW_004936526:3,102,468...3,147,601 JBrowse link
G Tnf tumor necrosis factor treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:26270535 RGD:11049527 NCBI chrNW_004936727:1,936,066...1,937,766 JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19249596 NCBI chrNW_004936747:1,255,803...1,288,252 JBrowse link
familial expansile osteolysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfrsf11a TNF receptor superfamily member 11a ISO OMIM NCBI chrNW_004936497:2,944,841...2,986,113 JBrowse link
Hajdu-Cheney syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101965998 notch receptor 2 ISO OMIM NCBI chrNW_004936872:454,273...539,544 JBrowse link
hypophosphatemic nephrolithiasis/osteoporosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Hypophosphatemic Nephrolithiasis/Osteoporosis ClinVar PMID:8528215 PMID:9354665 PMID:21920016 PMID:23348723 PMID:24029428 PMID:24033266 PMID:25524745 PMID:25741868 PMID:28492532 NCBI chrNW_004936597:1,687,511...1,694,782 JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Hypophosphatemic Nephrolithiasis/Osteoporosis ClinVar PMID:8528215 PMID:9354665 PMID:21920016 PMID:23348723 PMID:24029428 PMID:24033266 PMID:25524745 PMID:25741868 PMID:28492532 NCBI chrNW_004936597:1,667,700...1,684,533 JBrowse link
hypophosphatemic nephrolithiasis/osteoporosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic, 1 ClinVar PMID:28492532 NCBI chrNW_004936597:1,687,511...1,694,782 JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO OMIM NCBI chrNW_004936597:1,667,700...1,684,533 JBrowse link
hypophosphatemic nephrolithiasis/osteoporosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc9a3r1 SLC9A3 regulator 1 ISO OMIM NCBI chrNW_004936594:119,808...136,620 JBrowse link
idiopathic juvenile osteoporosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp5 LDL receptor related protein 5 ISO DNA:mutations:exon:c.3446 T > A (p.L1149Q),c.3553 G > A (p.G1185R)(human) RGD PMID:22487062 RGD:12793058 NCBI chrNW_004936599:1,746,309...1,814,471 JBrowse link
Keratosis Palmoplantaris with Periodontopathia and Onychogryposis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctsc cathepsin C ISO OMIM NCBI chrNW_004936736:1,201,343...1,240,311 JBrowse link
Mandibuloacral Dysplasia with Type A Lipodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO OMIM NCBI chrNW_004936580:5,374,208...5,395,442 JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18554282 NCBI chrNW_004936514:7,038,240...7,045,873 JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO ClinVar Annotator: match by term: Mandibuloacral dysostosis ClinVar NCBI chrNW_004936474:22,035,059...22,077,846 JBrowse link
multicentric carpotarsal osteolysis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mafb MAF bZIP transcription factor B ISO OMIM NCBI chrNW_004936561:1,007,273...1,010,548 JBrowse link
Nestor-Guillermo Progeria Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Banf1 BAF nuclear assembly factor 1 ISO OMIM NCBI chrNW_004936599:3,553,190...3,555,167 JBrowse link
G Eif1ad eukaryotic translation initiation factor 1A domain containing ISO ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome ClinVar NCBI chrNW_004936599:3,555,273...3,558,443 JBrowse link
Osteolysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr2 ANTXR cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12973667 NCBI chrNW_004936749:1,936,307...2,014,452 JBrowse link
G LOC101954979 integrin binding sialoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22407340 NCBI chrNW_004936905:316,459...323,446 JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO OMIM:277950, Winchester syndrome RGD PMID:16542393 RGD:1601416 NCBI chrNW_004936475:7,801,356...7,825,831 JBrowse link
G Mmp7 matrix metallopeptidase 7 ISO associated with Prostatic Neoplasms RGD PMID:15894268 RGD:9685352 NCBI chrNW_004936551:5,388,456...5,395,071 JBrowse link
G Pthlh parathyroid hormone like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:11054717 NCBI chrNW_004936760:197,525...209,212 JBrowse link
G Spp1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22407340 NCBI chrNW_004936905:148,956...156,023 JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15878362 NCBI chrNW_004936727:1,936,066...1,937,766 JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11b ISO CTD Direct Evidence: therapeutic CTD PMID:12548581 NCBI chrNW_004936470:27,571,263...27,598,725 JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18606716 NCBI chrNW_004936747:1,255,803...1,288,252 JBrowse link
Osteolysis Hereditary Multicentric term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lpcat2 lysophosphatidylcholine acyltransferase 2 ISO ClinVar Annotator: match by term: Multicentric osteolysis, nodulosis and arthropathy ClinVar NCBI chrNW_004936475:7,830,544...7,889,437 JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO OMIM NCBI chrNW_004936475:7,801,356...7,825,831 JBrowse link
osteoporosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO RGD PMID:10700189 RGD:10047094 NCBI chrNW_004936487:17,690,206...17,819,619 JBrowse link
G Actg1 actin gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004936594:5,170,711...5,173,251 JBrowse link
G Adcy5 adenylate cyclase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18029912 NCBI chrNW_004936725:1,751,272...1,897,937 JBrowse link
G Ager advanced glycosylation end-product specific receptor ISO mRNA:increased expression:proximal end of left femur (rat) RGD PMID:21542009 PMID:22036861 RGD:6767561 RGD:7245948 NCBI chrNW_004936727:1,418,342...1,422,005 JBrowse link
G Antxr2 ANTXR cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12973667 NCBI chrNW_004936749:1,936,307...2,014,452 JBrowse link
G Anxa2 annexin A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004936471:21,274,112...21,329,286 JBrowse link
G Ar androgen receptor treatment ISO RGD PMID:14600402 PMID:18847323 RGD:10043196 RGD:10043198 NCBI chrNW_004936635:485,903...647,820 JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004936586:1,782,581...1,809,458 JBrowse link
G Atm ATM serine/threonine kinase ISO RGD PMID:16644862 RGD:10047420 NCBI chrNW_004936551:359,134...534,672 JBrowse link
G Atp4b ATPase H+/K+ transporting subunit beta treatment ISO RGD PMID:26869358 RGD:14696735 NCBI chrNW_004936472:168,745...173,996 JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:22648569 RGD:10054093 NCBI chrNW_004936664:2,968,103...2,973,652 JBrowse link
G Bcl2 BCL2 apoptosis regulator treatment ISO RGD PMID:22648569 RGD:10054093 NCBI chrNW_004936497:2,209,136...2,373,580 JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO RGD PMID:17002564 RGD:1625350 NCBI chrNW_004936485:12,428,765...12,439,570 JBrowse link
G Ca2 carbonic anhydrase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004936544:362,591...379,151 JBrowse link
G Calca calcitonin related polypeptide alpha ISO RGD PMID:2502220 RGD:734677 NCBI chrNW_004936528:3,800,801...3,806,000 JBrowse link
G Calcr calcitonin receptor susceptibility ISO DNA:SNP:cds:g.1340T>C (human) OMIM
RGD		 PMID:23137636 RGD:10045665 NCBI chrNW_004936803:423,558...466,762 JBrowse link
G Cap1 cyclase associated actin cytoskeleton regulatory protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004936474:21,854,454...21,881,622 JBrowse link
G Cct2 chaperonin containing TCP1 subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004936545:7,416,257...7,436,024 JBrowse link
G Clec11a C-type lectin domain containing 11A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27976999 NCBI chrNW_004936889:476,439...478,620 JBrowse link
G Col1a1 collagen type I alpha 1 chain susceptibility ISO DNA:SNP, haplotype:intron:g.2046G>T (human) OMIM
RGD		 PMID:23137636 RGD:10045665 NCBI chrNW_004936490:11,448,552...11,465,836 JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO OMIM NCBI chrNW_004936585:5,650,322...5,686,393 JBrowse link
G Ctsk cathepsin K ISO RGD PMID:10469835 RGD:734856 NCBI chrNW_004936580:1,022,762...1,038,020 JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 ISO RGD PMID:29882473 RGD:14700776 NCBI chrNW_004936469:39,794,613...39,798,448 JBrowse link
G Daam2 dishevelled associated activator of morphogenesis 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30598549 NCBI chrNW_004936476:19,771,204...19,878,462 JBrowse link
G Eno1 enolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004936623:3,115,357...3,130,289 JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO RGD PMID:23281008 RGD:10045609 NCBI chrNW_004936706:1,854,938...1,867,521 JBrowse link
G Esr1 estrogen receptor 1 no_association
treatment		 ISO DNA:SNP, haplotype:intron:g.938C>T (human)
DNA:repeat:5' utr:g.-1174(TA)10-27 (human)
DNA:SNPs:intron: (rs2234693, rs9340799) (human)
DNA:SNP:intron:397T>C (human)
DNA:repeat:intron:IVS5+225(CA)18-25 (human)
DNA:SNP:exon:2014G>A (human)		 RGD PMID:10773580 PMID:16530497 PMID:16955786 PMID:17896124 PMID:17953702 PMID:20116372 PMID:21421090 PMID:23137636 RGD:10045665 RGD:10045825 RGD:10045826 RGD:10045828 RGD:10045834 RGD:10045839 RGD:10045841 RGD:8694129 NCBI chrNW_004936489:4,616,839...4,887,179 JBrowse link
G Esr2 estrogen receptor 2 treatment
susceptibility		 ISO DNA:SNP, haplotype:3'utr:*39A>G (human)
DNA:SNP, haplotypes: :-1213T>C (human)
DNA:repeat:3' utr: g.dupCA (human)		 RGD PMID:16530497 PMID:16777502 PMID:16955786 PMID:21421090 PMID:22948905 RGD:10045825 RGD:10045841 RGD:1626507 RGD:7364765 RGD:8694129 NCBI chrNW_004936495:7,956,168...8,018,356 JBrowse link
G Esrra estrogen related receptor alpha ISO RGD PMID:19936213 RGD:10401868 NCBI chrNW_004936599:4,898,534...4,922,758 JBrowse link
G Fga fibrinogen alpha chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004936576:1,322,406...1,329,743 JBrowse link
G Fgb fibrinogen beta chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004936576:1,306,076...1,313,485 JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 ClinVar PMID:5448 PMID:1303173 PMID:1631957 PMID:1978554 PMID:2321910 PMID:2503817 PMID:2572288 PMID:2836867 PMID:3393536 PMID:3446582 PMID:4359638 PMID:4388132 PMID:6015571 PMID:7949118 PMID:8611726 PMID:8860013 PMID:9858856 PMID:10734064 PMID:12367584 PMID:12737938 PMID:14278484 PMID:16356170 PMID:25741868 PMID:26633385 PMID:27287612 PMID:28492532 NCBI chrNW_004936809:1,269,900...1,285,853 JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004936709:1,243,149...1,247,782 JBrowse link
G Ghr growth hormone receptor treatment ISO associated with Uremia;protein:altered expression:osteoblast, osteoclast, chondroblast
associated with Cholestasis		 RGD PMID:17647196 PMID:19424739 RGD:10003128 RGD:10003131 NCBI chrNW_004936518:235,996...380,225 JBrowse link
G Gorab golgin, RAB6 interacting ISO CTD Direct Evidence: marker/mechanism CTD PMID:18997784 NCBI chrNW_004936481:16,332,442...16,350,822 JBrowse link
G Gpc6 glypican 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28869591 NCBI chrNW_004936472:15,136,656...16,177,597 JBrowse link
G Gpd2 glycerol-3-phosphate dehydrogenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004936469:21,705,421...21,833,143 JBrowse link
G Gpx1 glutathione peroxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004936529:997,943...999,123 JBrowse link
G Gsn gelsolin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004936487:9,749,755...9,802,787 JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:decreased expression:blood RGD PMID:19464221 RGD:10401828 NCBI chrNW_004936792:531,076...579,083 JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO associated with Cystic Fibrosis;DNA:missense mutation:cds:c.313A>G (p.I105V) (human) RGD PMID:24593045 RGD:10401929 NCBI chrNW_004936599:2,197,681...2,200,642 JBrowse link
G Hfe homeostatic iron regulator ISO associated with hemochromatosis RGD PMID:26829642 RGD:14746963 NCBI chrNW_004936671:1,940,079...1,947,574 JBrowse link
G Htr2c 5-hydroxytryptamine receptor 2C ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 ClinVar PMID:24088041 PMID:26633545 NCBI chrNW_004936499:1,002,083...1,109,446 JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004936483:15,845,777...15,864,341 JBrowse link
G Igf1 insulin like growth factor 1 treatment ISO associated with Cholestasis
associated with Diabetes Mellitus, Experimental
associated with Uremia;protein:altered expression:osteoblast, osteoclast, chondroblast		 RGD PMID:1466160 PMID:10499542 PMID:17647196 PMID:19424739 RGD:10003127 RGD:10003128 RGD:10003131 RGD:10003132 NCBI chrNW_004936492:11,709,623...11,784,028 JBrowse link
G Igf1r insulin like growth factor 1 receptor ISO RGD PMID:18079194 RGD:10045888 NCBI chrNW_004936483:4,563,995...4,860,231 JBrowse link
G Igf2 insulin like growth factor 2 treatment ISO RGD PMID:12162999 RGD:10402555 NCBI chrNW_004936816:972,902...981,232 JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 ISO protein:decreased expression:serum RGD PMID:9284698 RGD:10402579 NCBI chrNW_004936478:20,511,490...20,518,251 JBrowse link
G Il13ra2 interleukin 13 receptor subunit alpha 2 ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 ClinVar PMID:24088041 PMID:26633545 NCBI chrNW_004936499:860,179...883,884 JBrowse link
G Il1a interleukin 1 alpha ISO associated with Arthritis, Rheumatoid RGD PMID:10555884 RGD:6907107 NCBI chrNW_004936783:1,210,715...1,218,315 JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:22997530 RGD:7204491 NCBI chrNW_004936783:1,251,678...1,256,807 JBrowse link
G Il1rn interleukin 1 receptor antagonist treatment ISO human protein in a rat model RGD PMID:8182127 RGD:8551834 NCBI chrNW_004936783:1,447,158...1,466,331 JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15995586 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Il6r interleukin 6 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15995586 NCBI chrNW_004936580:4,055,438...4,081,876 JBrowse link
G Irs1 insulin receptor substrate 1 ISO mRNA, protein:decreased expression:multiple RGD PMID:22820932 RGD:7207063 NCBI chrNW_004936525:9,064,442...9,125,972 JBrowse link
G Irs2 insulin receptor substrate 2 ISO associated with Diabetes Mellitus, Type 2; protein:decreased expression:liver,kidney, muscle: RGD PMID:22820932 RGD:7207063 NCBI chrNW_004936472:2,772,187...2,796,398 JBrowse link
G Kl klotho ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:9363890 RGD:10403047 NCBI chrNW_004936472:27,604,681...27,649,613 JBrowse link
G Lepr leptin receptor susceptibility ISO DNA:polymorphisms:cds:p.K109R,Q223R(human) RGD PMID:23460508 RGD:10411886 NCBI chrNW_004936591:5,771,371...5,846,177 JBrowse link
G Lgr4 leucine rich repeat containing G protein-coupled receptor 4 susceptibility ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 17
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:23644456 NCBI chrNW_004936540:5,752,319...5,846,074 JBrowse link
G LOC101954950 aromatase ISO DNA:snps:multiple (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:17002564 PMID:20723554 RGD:1625350 NCBI chrNW_004936471:13,107,603...13,136,910 JBrowse link
G LOC101955952 dentin sialophosphoprotein ISO protein:decreased expression:incisor dental pulp (rat) RGD PMID:23974864 RGD:12911019 NCBI chrNW_004936905:458,062...463,359 JBrowse link
G LOC101957714 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:22337913 NCBI chrNW_004936514:1,467,460...1,480,185 JBrowse link
G LOC101968921 angiotensin-converting enzyme ISO associated with Hypertension RGD PMID:19590507 RGD:2325225 NCBI chrNW_004936541:4,157,847...4,178,156 JBrowse link
G LOC101968976 leptin treatment ISO associated with chronic obstructive pulmonary disease; protein:decreased expression:serum
protein:increased expression:serum (rat)
human protein in a rat model		 RGD PMID:11459801 PMID:12609558 PMID:21376149 PMID:24250662 RGD:10053572 RGD:10053615 RGD:10053630 RGD:5128771 NCBI chrNW_004936479:15,394,966...15,411,334 JBrowse link
G LOC101969021 somatotropin ISO associated with Diabetes Mellitus, Experimental RGD PMID:1466160 RGD:10003132 NCBI chrNW_004936541:4,524,397...4,528,234 JBrowse link
G LOC101970144 purine nucleoside phosphorylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004936877:686,539...692,832 JBrowse link
G LOC101970767 steroid 17-alpha-hydroxylase/17,20 lyase ISO DNA:snps:multiple (human) RGD PMID:17002564 RGD:1625350 NCBI chrNW_004936600:3,097,620...3,102,713 JBrowse link
G LOC101973343 tubulin alpha-1C chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004936512:7,026,107...7,033,804 JBrowse link
G LOC101973467 D-box binding PAR bZIP transcription factor ISO RGD PMID:17002564 RGD:1625350 NCBI chrNW_004936664:2,676,754...2,682,425 JBrowse link
G LOC101978603 bone gamma-carboxyglutamate protein susceptibility ISO DNA:SNP, haplotype:promoter:g.-298C>T (human)
associated with Diabetes Mellitus, type 2;associated with Diabetes Mellitus, type 2; protein:uncercarboxylated:serum		 RGD PMID:15108065 PMID:21550389 PMID:23137636 RGD:10045665 RGD:6483552 RGD:6483579 NCBI chrNW_004936580:5,480,023...5,482,288 JBrowse link
G Lrch2 leucine rich repeats and calponin homology domain containing 2 ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 ClinVar PMID:24088041 PMID:26633545 NCBI chrNW_004936499:673,276...775,860 JBrowse link
G Lrp5 LDL receptor related protein 5 treatment ISO OMIM
RGD		 PMID:21977807 PMID:22704852 RGD:12793063 RGD:7240519 NCBI chrNW_004936599:1,746,309...1,814,471 JBrowse link
G Ltf lactotransferrin ISO CTD Direct Evidence: therapeutic CTD PMID:16648989 PMID:16936800 NCBI chrNW_004936596:344,287...373,788 JBrowse link
G Luzp4 leucine zipper protein 4 ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 ClinVar PMID:24088041 PMID:26633545 NCBI chrNW_004936499:588,532...603,280 JBrowse link
G Mapk14 mitogen-activated protein kinase 14 treatment ISO RGD PMID:18442314 RGD:10045965 NCBI chrNW_004936476:23,237,762...23,310,211 JBrowse link
G Mgll monoglyceride lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004936798:681,549...721,645 JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO associated with osteoporosis; protein:increased expression:serum RGD PMID:19411568 RGD:5129553 NCBI chrNW_004936514:7,038,240...7,045,873 JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO RGD PMID:22704852 RGD:7240519 NCBI chrNW_004936470:20,480,844...20,485,955 JBrowse link
G Nog noggin ISO RGD PMID:12975477 RGD:10414323 NCBI chrNW_004936490:6,262,651...6,264,069 JBrowse link
G Nrip1 nuclear receptor interacting protein 1 ISO DNA:silent mutation, haplotype:p.G75G (human) RGD PMID:16530497 RGD:10045825 NCBI chrNW_004936505:7,886,327...7,966,969 JBrowse link
G Opa1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Osteoporosis ClinVar PMID:25741868 NCBI chrNW_004936711:1,027,531...1,113,796 JBrowse link
G Oxct1 3-oxoacid CoA-transferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004936518:924,840...1,057,201 JBrowse link
G P4hb prolyl 4-hydroxylase subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004936594:5,368,199...5,379,215 JBrowse link
G Park7 Parkinsonism associated deglycase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004936623:2,422,780...2,436,817 JBrowse link
G Pcna proliferating cell nuclear antigen ISO protein:increased expression:osteoblast: RGD PMID:22550338 RGD:10045656 NCBI chrNW_004936485:13,766,221...13,771,215 JBrowse link
G Pdlim4 PDZ and LIM domain 4 ISO OMIM NCBI chrNW_004936647:2,891,025...2,905,197 JBrowse link
G Pgls 6-phosphogluconolactonase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004936596:3,414,003...3,422,467 JBrowse link
G Pkm pyruvate kinase M1/2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004936471:31,589,322...31,617,891 JBrowse link
G Plek pleckstrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004936491:12,762,421...12,818,249 JBrowse link
G Pls3 plastin 3 ISO OMIM NCBI chrNW_004936499:246,042...335,440 JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:3017235 PMID:4367732 PMID:6143199 PMID:6254450 PMID:19153526 NCBI chrNW_004936493:7,060,747...7,065,276 JBrowse link
G Prdx3 peroxiredoxin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004936486:8,597,479...8,606,727 JBrowse link
G Psma2 proteasome 20S subunit alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004936478:18,083,525...18,095,088 JBrowse link
G Psma5 proteasome 20S subunit alpha 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004936704:905,277...928,364 JBrowse link
G Ptger4 prostaglandin E receptor 4 treatment ISO RGD PMID:16442794 RGD:10043381 NCBI chrNW_004936518:1,903,636...1,916,746 JBrowse link
G Pth parathyroid hormone treatment ISO CTD Direct Evidence: therapeutic
protein:decreased expression:serum (rat)		 RGD
CTD		 PMID:15710971 PMID:17317460 PMID:17882678 PMID:19578808 PMID:21306167 PMID:22312238 PMID:23161222 PMID:30639440 RGD:7242793 RGD:7242907 NCBI chrNW_004936528:5,081,569...5,084,030 JBrowse link
G Rab7b RAB7B, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004936557:6,504,562...6,519,219 JBrowse link
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18847324 NCBI chrNW_004936567:598,044...607,628 JBrowse link
G Rsu1 Ras suppressor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004936520:10,419,405...10,602,820 JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Osteoporosis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936801:1,185,615...1,298,416 JBrowse link
G Sirt1 sirtuin 1 treatment ISO RGD PMID:22555620 PMID:25377437 RGD:10047129 RGD:10053568 NCBI chrNW_004936521:10,296,097...10,316,673 JBrowse link
G Sod2 superoxide dismutase 2 no_association
susceptibility		 ISO DNA:SNPs:5' utr, exon, intron:multiple
DNA:SNPs:intron, exon:g.31A>G, g.327C>T (p.A16V) (rs5746094, rs4880) (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:18924182 PMID:26336112 RGD:11035299 NCBI chrNW_004936489:11,178,338...11,191,601 JBrowse link
G Tgfb1 transforming growth factor beta 1 treatment ISO associated with Uremia;protein:increased expression:osteoblast, osteoclast
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:12706579 PMID:17647196 RGD:10003128 NCBI chrNW_004936661:3,742,080...3,758,266 JBrowse link
G Tln1 talin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004936524:3,693,679...3,727,055 JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11a ISO RGD PMID:17002564 RGD:1625350 NCBI chrNW_004936497:2,944,841...2,986,113 JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11b ISO CTD Direct Evidence: marker/mechanism CTD PMID:17667143 NCBI chrNW_004936470:27,571,263...27,598,725 JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO RGD PMID:17002564 RGD:1625350 NCBI chrNW_004936474:908,414...935,765 JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO CTD Direct Evidence: therapeutic RGD
CTD		 PMID:17002564 PMID:17882678 RGD:1625350 NCBI chrNW_004936747:1,255,803...1,288,252 JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004936709:948,151...951,430 JBrowse link
G Tpm4 tropomyosin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004936596:4,406,301...4,423,775 JBrowse link
G U2af1 U2 small nuclear RNA auxiliary factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004936500:937,537...967,791 JBrowse link
G Vcl vinculin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004936521:5,051,077...5,163,036 JBrowse link
G Vdr vitamin D receptor no_association ISO associated with Cystic Fibrosis RGD PMID:16713399 RGD:4889871 NCBI chrNW_004936512:5,741,836...5,800,999 JBrowse link
G Wdr1 WD repeat domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004936477:16,643,142...16,682,450 JBrowse link
G Wnt1 Wnt family member 1 susceptibility ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 16
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:23499309 PMID:23656646 NCBI chrNW_004936512:6,781,001...6,785,358 JBrowse link
G Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20548961 NCBI chrNW_004936654:220,391...267,383 JBrowse link
Penttinen-Aula Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfrb platelet derived growth factor receptor beta ISO OMIM NCBI chrNW_004936504:4,762,251...4,799,789 JBrowse link
Postmenopausal Osteoporosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp5 acid phosphatase 5, tartrate resistant ISO protein:increased expression:femur (rat) RGD PMID:19736603 RGD:2315910 NCBI chrNW_004936659:1,598,252...1,642,615 JBrowse link
G Ar androgen receptor ISO RGD PMID:12593895 RGD:1578682 NCBI chrNW_004936635:485,903...647,820 JBrowse link
G Bmp15 bone morphogenetic protein 15 susceptibility ISO DNA:SNPs, haplotype:5' utr, intron:g.-9C>G, IVS1+905A>G (human) RGD PMID:22335445 RGD:10045849 NCBI chrNW_004936873:109,156...115,498 JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17227729 NCBI chrNW_004936533:3,601,270...3,637,128 JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Postmenopausal osteoporosis ClinVar PMID:2037280 PMID:7695699 PMID:7942841 PMID:8218237 PMID:8408653 PMID:8613526 PMID:8669434 PMID:8808594 PMID:9016532 PMID:9067755 PMID:9295084 PMID:9443882 PMID:10931857 PMID:12590186 PMID:15024692 PMID:15024745 PMID:15741671 PMID:15864348 PMID:15931785 PMID:17078022 PMID:17309652 PMID:18412368 PMID:18553566 PMID:18704262 PMID:19344236 PMID:19358256 PMID:21249479 PMID:21567126 PMID:21667357 PMID:22589248 PMID:22753364 PMID:24390061 PMID:25086671 PMID:25741868 PMID:25944380 PMID:25963598 PMID:26177859 PMID:26467025 PMID:27132807 PMID:27509835 PMID:27510842 PMID:27748872 PMID:28378289 PMID:28492532 NCBI chrNW_004936490:11,448,552...11,465,836 JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Postmenopausal osteoporosis ClinVar PMID:1463018 PMID:2052622 PMID:7695699 PMID:7860070 PMID:8094076 PMID:8218237 PMID:8786074 PMID:9016532 PMID:9272740 PMID:9594376 PMID:16705691 PMID:17078022 PMID:19344236 PMID:21520333 PMID:22589248 PMID:25326637 PMID:25450603 PMID:25741868 PMID:25944380 PMID:26604951 PMID:27519266 PMID:28492532 NCBI chrNW_004936585:5,650,322...5,686,393 JBrowse link
G Esr1 estrogen receptor 1 susceptibility
treatment		 ISO DNA:SNPs, haplotype:intron: (rs2234693, rs9340799) (human)
DNA:SNP:intron:IVS1T>C (human)		 RGD PMID:16604479 PMID:16972020 RGD:10045838 RGD:8158082 NCBI chrNW_004936489:4,616,839...4,887,179 JBrowse link
G Esr2 estrogen receptor 2 susceptibility ISO DNA:SNP: :-1213T>C (human)
DNA:SNP, haplotype:3'utr:*39A>G (human)
DNA:repeat:intron:IVS5-3919(CA)18-26 (human)		 RGD PMID:16777502 PMID:17945165 PMID:22335445 RGD:10045847 RGD:10045849 RGD:1626507 NCBI chrNW_004936495:7,956,168...8,018,356 JBrowse link
G Fdps farnesyl diphosphate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:31774873 NCBI chrNW_004936580:4,799,354...4,808,406 JBrowse link
G Fgf23 fibroblast growth factor 23 ISO protein:increased expression: : RGD PMID:24101107 RGD:10044241 NCBI chrNW_004936606:4,555,034...4,561,961 JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha treatment ISO RGD PMID:18067744 PMID:24023068 RGD:10402191 RGD:10402540 NCBI chrNW_004936495:5,770,988...5,816,157 JBrowse link
G Igf1 insulin like growth factor 1 ISO protein:decreased expression:serum: RGD PMID:11063288 RGD:10045861 NCBI chrNW_004936492:11,709,623...11,784,028 JBrowse link
G Igf2 insulin like growth factor 2 treatment ISO RGD PMID:16753016 RGD:10402556 NCBI chrNW_004936816:972,902...981,232 JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032749 NCBI chrNW_004936783:1,251,678...1,256,807 JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032749 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Il7 interleukin 7 treatment ISO RGD PMID:23662133 RGD:10402930 NCBI chrNW_004936702:110,625...162,957 JBrowse link
G LOC101954950 aromatase ISO DNA:snps:exon:multiple (human) RGD PMID:17118999 RGD:1600860 NCBI chrNW_004936471:13,107,603...13,136,910 JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Postmenopausal osteoporosis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936599:1,746,309...1,814,471 JBrowse link
G Nrip1 nuclear receptor interacting protein 1 susceptibility ISO DNA:silent mutation:cds:p.G75G (human) RGD PMID:22335445 RGD:10045849 NCBI chrNW_004936505:7,886,327...7,966,969 JBrowse link
G Ptger4 prostaglandin E receptor 4 treatment ISO RGD PMID:11917107 RGD:10003045 NCBI chrNW_004936518:1,903,636...1,916,746 JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: therapeutic CTD PMID:20567999 NCBI chrNW_004936528:5,081,569...5,084,030 JBrowse link
G Ptk2b protein tyrosine kinase 2 beta ISO RGD PMID:17537919 RGD:1642610 NCBI chrNW_004936675:216,970...325,670 JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10750555 NCBI chrNW_004936661:3,742,080...3,758,266 JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032749 NCBI chrNW_004936727:1,936,066...1,937,766 JBrowse link
G Vdr vitamin D receptor treatment ISO DNA:SNP:exon: (rs2228570) (human) RGD PMID:16604479 RGD:8158082 NCBI chrNW_004936512:5,741,836...5,800,999 JBrowse link
Singleton Merten Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936469:16,721,306...16,778,249 JBrowse link
Singleton-Merten Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO OMIM NCBI chrNW_004936469:16,721,306...16,778,249 JBrowse link
Singleton-Merten Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddx58 DExD/H-box helicase 58 ISO OMIM NCBI chrNW_004936524:1,141,840...1,200,638 JBrowse link
Warburg-Cinotti Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddr2 discoidin domain receptor tyrosine kinase 2 ISO OMIM NCBI chrNW_004936831:799,948...946,139 JBrowse link
Winchester syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp14 matrix metallopeptidase 14 ISO OMIM NCBI chrNW_004936722:1,447,189...1,457,632 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12130
    disease of anatomical entity 11691
      musculoskeletal system disease 4562
        bone disease 2456
          bone resorption disease 154
            Alveolar Bone Loss 5
            Osteolysis + 23
            ainhum + 0
            osteitis fibrosa 0
            osteoporosis + 131
Path 2
Term Annotations click to browse term
  disease 12130
    disease of anatomical entity 11691
      musculoskeletal system disease 4562
        connective tissue disease 3011
          bone disease 2456
            bone remodeling disease 220
              bone resorption disease 154
                Alveolar Bone Loss 5
                Osteolysis + 23
                ainhum + 0
                osteitis fibrosa 0
                osteoporosis + 131
paths to the root