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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.

show annotations for term's descendants           Sort by:
 
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 chr 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464 		JBrowse link
G Bmp7 bone morphogenetic protein 7 ISO CTD Direct Evidence: therapeutic CTD PMID:17513972 NCBI chr 3:170,879,972...170,955,820
Ensembl chr 3:170,879,973...170,955,399 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:27028940 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997 		JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 ISO CTD Direct Evidence: therapeutic CTD PMID:21507677 NCBI chr14:18,731,346...18,733,391
Ensembl chr14:18,731,378...18,733,391 		JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11985600 NCBI chr 8:58,744,849...58,772,408
Ensembl chr 8:58,744,849...58,772,408 		JBrowse link
G Ghrl ghrelin and obestatin prepropeptide ISO CTD Direct Evidence: therapeutic CTD PMID:29477364 NCBI chr 4:145,674,157...145,678,066
Ensembl chr 4:145,674,157...145,678,066 		JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:9881647 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761 		JBrowse link
G Pthlh parathyroid hormone-like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:16769263 NCBI chr 4:181,663,425...181,674,181 JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:15845617 PMID:18496637 PMID:23333834 NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665 		JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26319416 NCBI chr15:60,482,527...60,512,704
Ensembl chr15:60,482,527...60,512,704 		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 chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199 		JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12913070 PMID:17152860 NCBI chr 5:139,982,404...140,015,541
Ensembl chr 5:139,983,680...140,015,541 		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 chr 5:156,086,496...156,141,513
Ensembl chr 5:156,086,497...156,141,537 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO associated with Periodontitis; RGD PMID:21241302 RGD:8661687
G Il10 interleukin 10 treatment IEP associated with Diabetes Mellitus, Experimental RGD PMID:26270535 RGD:11049527 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO RGD PMID:14630900 RGD:10413909 NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716 		JBrowse link
G Tnf tumor necrosis factor treatment IEP associated with Diabetes Mellitus, Experimental RGD PMID:26270535 RGD:11049527 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 		JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19249596 NCBI chr15:60,482,527...60,512,704
Ensembl chr15:60,482,527...60,512,704 		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 ClinVar Annotator: match by term: Familial expansile osteolysis
ClinVar Annotator: match by OMIM:174810		 OMIM
ClinVar		 PMID:7911698 PMID:10615125 PMID:12362049 PMID:12568416 PMID:17447113 PMID:25741868 NCBI chr13:25,778,306...25,835,802
Ensembl chr13:25,778,317...25,835,957 		JBrowse link
Hajdu-Cheney syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: Hajdu-Cheney syndrome
ClinVar Annotator: match by OMIM:102500
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8723560 PMID:8755249 PMID:17159511 PMID:21378985 PMID:21378989 PMID:21712856 PMID:22891273 PMID:22891276 PMID:24728327 PMID:25741868 PMID:27312922 PMID:28492532 NCBI chr 2:200,187,184...200,320,403
Ensembl chr 2:200,187,179...200,320,215 		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 chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420 		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 chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813 		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 chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic, 1
ClinVar Annotator: match by OMIM:612286		 OMIM
ClinVar		 PMID:12324554 PMID:16688119 PMID:24033266 PMID:25082825 PMID:25741868 PMID:26047794 PMID:26272126 PMID:27378183 PMID:28492532 PMID:28893421 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813 		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 ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic, 2
ClinVar Annotator: match by OMIM:612287		 OMIM
ClinVar		 PMID:18784102 PMID:24033266 PMID:25326635 PMID:25741868 PMID:28492532 PMID:28893421 NCBI chr10:103,713,045...103,730,145
Ensembl chr10:103,713,045...103,730,145 		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 chr 1:218,816,833...218,920,147
Ensembl chr 1:218,816,841...218,920,094 		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 ClinVar Annotator: match by term: Haim-Munk syndrome
ClinVar Annotator: match by OMIM:245010
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1886537 PMID:10581027 PMID:10593994 PMID:10662807 PMID:11180012 PMID:11180601 PMID:11886537 PMID:12112662 PMID:14974080 PMID:18809751 PMID:18945301 PMID:23311634 PMID:24033266 PMID:24936511 PMID:25741868 PMID:28242153 PMID:28492532 PMID:29410039 NCBI chr 1:151,918,514...151,949,979
Ensembl chr 1:151,918,571...151,949,983 		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 ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy
ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy, atypical
ClinVar Annotator: match by term: Lipodystrophy, type A, associated with mandibuloacral dysplasia
ClinVar Annotator: match by term: Mandibuloacral dysostosis
ClinVar Annotator: match by term: CRANIOMANDIBULAR DERMATODYSOSTOSIS
DNA:missense mutation:cds:p.R527H (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:248370		 OMIM
ClinVar
CTD		 PMID:10080180 PMID:10612827 PMID:10655060 PMID:10999845 PMID:11503164 PMID:12075506 PMID:12628721 PMID:12629077 PMID:12768443 PMID:12784312 PMID:12788894 PMID:12920062 PMID:12927431 PMID:14597414 PMID:14615128 PMID:14627682 PMID:14749366 PMID:15140538 PMID:15286156 PMID:15298354 PMID:15475483 PMID:15998779 PMID:16174718 PMID:16278265 PMID:16440304 PMID:16772334 PMID:16809772 PMID:17250669 PMID:17274801 PMID:17377071 PMID:17848409 PMID:17935239 PMID:18348272 PMID:18396274 PMID:18414213 PMID:18549403 PMID:18604166 PMID:18795223 PMID:18796515 PMID:18926329 PMID:19084400 PMID:19318026 PMID:19424285 PMID:19427440 PMID:19432833 PMID:19589617 PMID:19638735 PMID:19680556 PMID:19764019 PMID:19875404 PMID:20848652 PMID:20980393 PMID:21520333 PMID:22224630 PMID:22266370 PMID:22326558 PMID:22464770 PMID:22918509 PMID:23183350 PMID:23328570 PMID:23497705 PMID:23853504 PMID:23861362 PMID:24001739 PMID:24033266 PMID:24055113 PMID:24503780 PMID:24623722 PMID:24642510 PMID:24721642 PMID:24768879 PMID:24846508 PMID:24861648 PMID:25214167 PMID:25286833 PMID:25324471 PMID:25371241 PMID:25637381 PMID:25741868 PMID:25823658 PMID:25982065 PMID:26183555 PMID:26332594 PMID:26467025 PMID:26602028 PMID:26752647 PMID:27199538 PMID:27532257 PMID:27585670 PMID:27707468 PMID:27723096 PMID:27813223 PMID:27854218 PMID:27896052 PMID:27919367 PMID:28074886 PMID:28255936 PMID:28341588 PMID:28416588 PMID:28492532 PMID:28531892 PMID:28663758 PMID:28679633 PMID:28785654 PMID:28874324 PMID:29040816 PMID:29149195 PMID:29237675 PMID:29693488 PMID:29791652 PMID:29943882 PMID:30137533 PMID:30165862 PMID:30420677 PMID:30871747 PMID:30901896 PMID:31303467 PMID:31525256 PMID:32004434 PMID:32456328, PMID:16046620 RGD:12791023 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18554282 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520 		JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO ClinVar Annotator: match by term: Mandibuloacral dysostosis ClinVar NCBI chr 5:139,982,404...140,015,541
Ensembl chr 5:139,983,680...140,015,541 		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 ClinVar Annotator: match by term: Multicentric carpo-tarsal osteolysis with or without nephropathy
ClinVar Annotator: match by term: Multicentric osteolysis nephropathy
ClinVar Annotator: match by OMIM:166300		 OMIM
ClinVar		 PMID:20436469 PMID:22387013 PMID:24989131 PMID:25741868 PMID:28492532 PMID:30208859 NCBI chr 3:156,338,993...156,340,913
Ensembl chr 3:156,339,004...156,340,913 		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 ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome
ClinVar Annotator: match by OMIM:614008		 OMIM
ClinVar		 PMID:21549337 PMID:23720404 PMID:28492532 NCBI chr 1:220,744,195...220,746,224
Ensembl chr 1:220,744,195...220,746,224 		JBrowse link
G Eif1ad eukaryotic translation initiation factor 1A domain containing ISO ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome ClinVar NCBI chr 1:220,746,387...220,751,687
Ensembl chr 1:220,746,387...220,751,684 		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 chr14:13,191,716...13,331,286
Ensembl chr14:13,192,347...13,274,978 		JBrowse link
G Ibsp integrin-binding sialoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22407340 NCBI chr14:6,801,200...6,813,987
Ensembl chr14:6,801,204...6,813,945 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO OMIM:277950, Winchester syndrome RGD PMID:16542393 RGD:1601416 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611 		JBrowse link
G Mmp7 matrix metallopeptidase 7 ISO associated with Prostatic Neoplasms RGD PMID:15894268 RGD:9685352 NCBI chr 8:5,893,253...5,900,965
Ensembl chr 8:5,893,249...5,901,049 		JBrowse link
G Pthlh parathyroid hormone-like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:11054717 NCBI chr 4:181,663,425...181,674,181 JBrowse link
G Spp1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22407340 NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15878362 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO CTD Direct Evidence: therapeutic CTD PMID:12548581 NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665 		JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18606716 NCBI chr15:60,482,527...60,512,704
Ensembl chr15:60,482,527...60,512,704 		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 chr19:15,470,177...15,540,704
Ensembl chr19:15,469,303...15,540,773 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO ClinVar Annotator: match by term: Multicentric osteolysis, nodulosis and arthropathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multicentric Osteolysis-Nodulosis-Arthropathy (MONA) Spectrum Disorders
ClinVar Annotator: match by OMIM:259600		 OMIM
ClinVar
CTD		 PMID:2625626 PMID:6525336 PMID:10356396 PMID:11431697 PMID:15691365 PMID:16458924 PMID:16542393 PMID:17059372 PMID:17400654 PMID:19019335 PMID:20617897 PMID:20673868 PMID:21421877 PMID:23313298 PMID:23378725 PMID:25600631 PMID:25704319 PMID:25741868 PMID:27182040 PMID:28492532 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611 		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 chr 3:10,041,820...10,145,076
Ensembl chr 3:10,041,826...10,144,388 		JBrowse link
G Ace angiotensin I converting enzyme IMP associated with Hypertension RGD PMID:19590507 RGD:2325225 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822 		JBrowse link
G Actg1 actin, gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr10:109,518,429...109,521,288
Ensembl chr 3:75,643,054...75,644,954
Ensembl chr10:75,643,054...75,644,954 		JBrowse link
G Adcy5 adenylate cyclase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18029912 NCBI chr11:68,695,839...68,842,452
Ensembl chr11:68,695,839...68,842,320 		JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO
IEP		 mRNA:increased expression:proximal end of left femur (rat) RGD PMID:21542009, PMID:22036861 RGD:6767561, RGD:7245948 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079 		JBrowse link
G Antxr2 ANTXR cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12973667 NCBI chr14:13,191,716...13,331,286
Ensembl chr14:13,192,347...13,274,978 		JBrowse link
G Anxa2 annexin A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 8:75,687,134...75,723,589
Ensembl chr 8:75,687,100...75,723,594 		JBrowse link
G Ar androgen receptor treatment IDA
ISO		 RGD PMID:14600402, PMID:18847323 RGD:10043196, RGD:10043198 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026 		JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 9:78,862,013...78,882,061
Ensembl chr 9:78,862,013...78,882,060 		JBrowse link
G Atm ATM serine/threonine kinase ISO RGD PMID:16644862 RGD:10047420 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045 		JBrowse link
G Atp4b ATPase H+/K+ transporting subunit beta treatment ISO RGD PMID:26869358 RGD:14696735 NCBI chr16:81,136,218...81,145,131
Ensembl chr16:81,136,218...81,145,131 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:22648569 RGD:10054093 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207 		JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment IEP RGD PMID:22648569 RGD:10054093 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein susceptibility IDA
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:21550389, PMID:23137636, PMID:15108065 RGD:6483552, RGD:10045665, RGD:6483579 NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747 		JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO RGD PMID:17002564 RGD:1625350 NCBI chr 3:126,335,963...126,346,771
Ensembl chr 3:126,335,863...126,346,318 		JBrowse link
G Calca calcitonin-related polypeptide alpha ISO RGD PMID:2502220 RGD:734677 NCBI chr 1:184,184,018...184,188,922
Ensembl chr 1:184,184,020...184,188,911 		JBrowse link
G Calcr calcitonin receptor susceptibility ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 15
DNA:SNP:cds:g.1340T>C (human)		 OMIM
ClinVar		 PMID:9003491 PMID:9571205 PMID:9817931, PMID:23137636 RGD:10045665 NCBI chr 4:28,627,439...28,702,559
Ensembl chr 4:28,627,442...28,702,559 		JBrowse link
G Cap1 cyclase associated actin cytoskeleton regulatory protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 5:140,559,195...140,585,494
Ensembl chr 5:140,559,206...140,585,408 		JBrowse link
G Car2 carbonic anhydrase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 2:88,097,740...88,112,868
Ensembl chr 2:88,097,720...88,113,029 		JBrowse link
G Cct2 chaperonin containing TCP1 subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 7:60,106,532...60,122,779
Ensembl chr 7:60,109,974...60,122,805 		JBrowse link
G Ciita class II, major histocompatibility complex, transactivator ISS OMIM:166710 MouseDO NCBI chr10:5,212,621...5,260,641
Ensembl chr10:5,213,350...5,260,608 		JBrowse link
G Clec11a C-type lectin domain containing 11A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27976999 NCBI chr 1:100,290,374...100,293,515
Ensembl chr 1:100,289,295...100,293,558 		JBrowse link
G Col1a1 collagen type I alpha 1 chain susceptibility ISO ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL
associated with Beta-Thalassemia;DNA:SNP:intron:g.2046G>T (human)
DNA:SNP, haplotype:intron:g.2046G>T (human)		 OMIM
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, PMID:19143970, PMID:23137636 RGD:11041180, RGD:10045665 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL OMIM
ClinVar		 PMID:7695699 PMID:7860070 PMID:8094076 PMID:8218237 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 chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151 		JBrowse link
G Ctsk cathepsin K ISO RGD PMID:10469835 RGD:734856 NCBI chr 2:196,655,469...196,666,447
Ensembl chr 2:196,655,469...196,666,446 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 ISO RGD PMID:29882473 RGD:14700776 NCBI chr13:45,314,952...45,318,856
Ensembl chr13:45,314,933...45,318,878 		JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO DNA:snps:multiple (human) RGD PMID:17002564 RGD:1625350 NCBI chr 1:266,422,127...266,429,947
Ensembl chr 1:266,422,132...266,428,239 		JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO DNA:snps:multiple (human)
CTD Direct Evidence: marker/mechanism		 CTD PMID:20723554, PMID:17002564 RGD:1625350 NCBI chr 8:58,744,849...58,772,408
Ensembl chr 8:58,744,849...58,772,408 		JBrowse link
G Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22337913 NCBI chr 3:168,097,484...168,111,920
Ensembl chr 3:168,097,485...168,111,920 		JBrowse link
G Daam2 dishevelled associated activator of morphogenesis 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30598549 NCBI chr 9:13,444,883...13,493,154
Ensembl chr 9:13,446,896...13,490,669 		JBrowse link
G Dbp D-box binding PAR bZIP transcription factor ISO RGD PMID:17002564 RGD:1625350 NCBI chr 1:101,687,896...101,692,845
Ensembl chr 1:101,687,855...101,692,846 		JBrowse link
G Dspp dentin sialophosphoprotein IEP protein:decreased expression:incisor dental pulp (rat) RGD PMID:23974864 RGD:12911019 NCBI chr14:6,926,972...6,933,079
Ensembl chr14:6,926,976...6,933,070 		JBrowse link
G Eno1 enolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 5:167,288,223...167,299,610
Ensembl chr 5:167,288,223...167,299,609 		JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO RGD PMID:23281008 RGD:10045609 NCBI chr 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198 		JBrowse link
G Esr1 estrogen receptor 1 no_association
treatment		 ISO
IEP		 DNA:SNP:intron:397T>C (human)
DNA:repeat:5' utr:g.-1174(TA)10-27 (human)
DNA:SNP:exon:2014G>A (human)
DNA:repeat:intron:IVS5+225(CA)18-25 (human)
DNA:SNPs:intron: (rs2234693, rs9340799) (human)
DNA:SNP, haplotype:intron:g.938C>T (human)		 RGD PMID:23137636, PMID:21421090, PMID:17953702, PMID:17953702, PMID:10773580, PMID:16955786, PMID:17896124, PMID:20116372, PMID:16530497 RGD:10045665, RGD:10045841, RGD:10045839, RGD:10045839, RGD:10045834, RGD:8694129, RGD:10045828, RGD:10045826, RGD:10045825 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796 		JBrowse link
G Esr2 estrogen receptor 2 susceptibility
treatment		 ISO
IEP		 DNA:SNP, haplotypes: :-1213T>C (human)
DNA:SNP, haplotype:3'utr:*39A>G (human)
DNA:repeat:3' utr: g.dupCA (human)		 RGD PMID:16777502, PMID:21421090, PMID:16530497, PMID:16955786, PMID:22948905 RGD:1626507, RGD:10045841, RGD:10045825, RGD:8694129, RGD:7364765 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251 		JBrowse link
G Esrra estrogen related receptor, alpha ISO RGD PMID:19936213 RGD:10401868 NCBI chr 1:222,168,729...222,178,842
Ensembl chr 1:222,168,730...222,178,725 		JBrowse link
G Fga fibrinogen alpha chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763 		JBrowse link
G Fgb fibrinogen beta chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 2:182,028,044...182,035,026
Ensembl chr 2:182,027,115...182,038,178 		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 chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 4:157,676,336...157,680,322
Ensembl chr 4:157,676,595...157,679,962 		JBrowse link
G Gh1 growth hormone 1 IEP associated with Diabetes Mellitus, Experimental RGD PMID:1466160 RGD:10003132 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180 		JBrowse link
G Ghr growth hormone receptor treatment IEP associated with Uremia;protein:altered expression:osteoblast, osteoclast, chondroblast
associated with Cholestasis		 RGD PMID:17647196, PMID:19424739 RGD:10003128, RGD:10003131 NCBI chr 2:53,149,225...53,413,954
Ensembl chr 2:53,150,370...53,413,638 		JBrowse link
G Gorab golgin, RAB6-interacting ISO CTD Direct Evidence: marker/mechanism CTD PMID:18997784 NCBI chr13:81,682,207...81,698,827
Ensembl chr13:81,682,018...81,698,833 		JBrowse link
G Gpc6 glypican 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28869591 NCBI chr15:102,164,091...103,174,721
Ensembl chr15:102,164,751...103,170,847 		JBrowse link
G Gpd2 glycerol-3-phosphate dehydrogenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 3:43,223,892...43,359,069
Ensembl chr 3:43,255,567...43,359,074 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522 		JBrowse link
G Gsn gelsolin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 3:14,456,106...14,508,922
Ensembl chr 3:14,467,330...14,508,911 		JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:decreased expression:blood RGD PMID:19464221 RGD:10401828 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361 		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 chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147 		JBrowse link
G Hfe homeostatic iron regulator ISO associated with hemochromatosis RGD PMID:26829642 RGD:14746963 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985 		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 chr  X:118,084,520...118,318,040
Ensembl chr  X:118,084,890...118,318,039 		JBrowse link
G Id4 inhibitor of DNA binding 4, HLH protein ISS OMIM:166710 MouseDO NCBI chr17:16,692,557...16,695,126
Ensembl chr17:16,692,557...16,695,126 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 1:141,874,354...141,893,674
Ensembl chr 1:141,866,283...141,893,705 		JBrowse link
G Ifngr1 interferon gamma receptor 1 ISS OMIM:166710 MouseDO NCBI chr 1:15,062,380...15,080,815
Ensembl chr 1:15,062,432...15,080,907 		JBrowse link
G Igf1 insulin-like growth factor 1 treatment ISO
IEP		 associated with Diabetes Mellitus, Experimental
associated with Cholestasis
associated with Uremia;protein:altered expression:osteoblast, osteoclast, chondroblast		 RGD PMID:10499542, PMID:1466160, PMID:19424739, PMID:17647196 RGD:10003127, RGD:10003132, RGD:10003131, RGD:10003128 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO RGD PMID:18079194 RGD:10045888 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516 		JBrowse link
G Igf2 insulin-like growth factor 2 treatment IDA RGD PMID:12162999 RGD:10402555 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:decreased expression:serum RGD PMID:9284698 RGD:10402579 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374 		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 chr  X:118,443,955...118,514,716
Ensembl chr  X:118,443,823...118,513,061 		JBrowse link
G Il1a interleukin 1 alpha ISO associated with Arthritis, Rheumatoid RGD PMID:10555884 RGD:6907107 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086 		JBrowse link
G Il1b interleukin 1 beta IDA RGD PMID:22997530 RGD:7204491 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726 		JBrowse link
G Il1rn interleukin 1 receptor antagonist treatment ISO human protein in a rat model RGD PMID:8182127 RGD:8551834 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15995586 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807 		JBrowse link
G Il6r interleukin 6 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15995586 NCBI chr 2:189,196,180...189,255,987
Ensembl chr 2:189,205,701...189,254,628 		JBrowse link
G Irak3 interleukin-1 receptor-associated kinase 3 ISS OMIM:166710 MouseDO NCBI chr 7:64,922,830...64,982,224
Ensembl chr 7:64,923,615...64,982,281 		JBrowse link
G Irs1 insulin receptor substrate 1 IEP mRNA, protein:decreased expression:multiple RGD PMID:22820932 RGD:7207063 NCBI chr 9:88,033,668...88,086,488
Ensembl chr 9:88,033,668...88,086,488 		JBrowse link
G Irs2 insulin receptor substrate 2 IEP associated with Diabetes Mellitus, Type 2; protein:decreased expression:liver,kidney, muscle: RGD PMID:22820932 RGD:7207063 NCBI chr16:83,824,515...83,848,569
Ensembl chr16:83,824,430...83,848,684 		JBrowse link
G Kl Klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:9363890, PMID:9363890 RGD:10403047 NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551 		JBrowse link
G Lep leptin treatment ISO
IDA
IEP		 associated with chronic obstructive pulmonary disease; protein:decreased expression:serum
human protein in a rat model
protein:increased expression:serum (rat)		 RGD PMID:21376149, PMID:11459801, PMID:12609558, PMID:24250662 RGD:5128771, RGD:10053630, RGD:10053615, RGD:10053572 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818 		JBrowse link
G Lepr leptin receptor susceptibility ISO DNA:polymorphisms:cds:p.K109R,Q223R(human) RGD PMID:23460508 RGD:10411886 NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221 		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		 ClinVar
CTD
OMIM		 PMID:23644456 NCBI chr 3:101,051,960...101,152,119
Ensembl chr 3:101,051,955...101,152,119 		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 chr  X:118,532,396...118,615,845
Ensembl chr  X:118,534,912...118,615,798 		JBrowse link
G Lrp5 LDL receptor related protein 5 treatment ISO
IEP		 ClinVar Annotator: match by term: Osteoporosis
ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 1
ClinVar Annotator: match by term: High bone mass
ClinVar Annotator: match by OMIM:166710		 ClinVar
OMIM		 PMID:11741193 PMID:11793484 PMID:12015390 PMID:12579474 PMID:14727154 PMID:15077203 PMID:15141052 PMID:15767861 PMID:16679074 PMID:17052975 PMID:17137849 PMID:17223614 PMID:17306638 PMID:17395706 PMID:17505772 PMID:18588671 PMID:25741868 PMID:26467025 PMID:28492532, PMID:17002564, PMID:22704852, PMID:21977807 RGD:1625350, RGD:7240519, RGD:12793063 NCBI chr 1:218,816,833...218,920,147
Ensembl chr 1:218,816,841...218,920,094 		JBrowse link
G Ltf lactotransferrin ISO CTD Direct Evidence: therapeutic CTD PMID:16648989 PMID:16936800 NCBI chr 8:119,290,416...119,313,261
Ensembl chr 8:119,290,416...119,313,261 		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 chr  X:118,725,749...118,766,413 JBrowse link
G Mapk14 mitogen activated protein kinase 14 treatment IMP RGD PMID:18442314 RGD:10045965 NCBI chr20:5,933,290...5,995,137
Ensembl chr20:5,933,303...5,995,137 		JBrowse link
G Mgll monoglyceride lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 4:120,671,436...120,773,458
Ensembl chr 4:120,671,489...120,771,088 		JBrowse link
G Mir152 microRNA 152 IEP miRNA:increased expression:femur RGD PMID:31492082 RGD:21066345 NCBI chr10:84,719,319...84,719,403
Ensembl chr10:84,719,319...84,719,403 		JBrowse link
G Mir448 microRNA 448 ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 ClinVar PMID:24088041 PMID:26633545 NCBI chr  X:118,277,684...118,277,795
Ensembl chr  X:118,277,684...118,277,795 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO associated with osteoporosis; protein:increased expression:serum RGD PMID:19411568 RGD:5129553 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor IDA RGD PMID:22704852 RGD:7240519 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240 		JBrowse link
G Nog noggin ISO RGD PMID:12975477 RGD:10414323 NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386 		JBrowse link
G Nrip1 nuclear receptor interacting protein 1 ISO DNA:silent mutation, haplotype:p.G75G (human) RGD PMID:16530497 RGD:10045825 NCBI chr11:14,658,225...14,742,478
Ensembl chr11:14,658,225...14,741,563 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Osteoporosis ClinVar PMID:25741868 NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803 		JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 2:53,859,738...54,007,733
Ensembl chr 2:53,859,737...54,007,756 		JBrowse link
G P4hb prolyl 4-hydroxylase subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr10:109,736,459...109,748,070
Ensembl chr10:109,736,458...109,747,987 		JBrowse link
G Park7 Parkinsonism associated deglycase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 5:167,982,438...168,004,724
Ensembl chr 5:167,982,439...168,004,724 		JBrowse link
G Pcna proliferating cell nuclear antigen IEP protein:increased expression:osteoblast: RGD PMID:22550338 RGD:10045656 NCBI chr 3:124,880,698...124,884,570
Ensembl chr 3:124,880,698...124,884,570 		JBrowse link
G Pdlim4 PDZ and LIM domain 4 ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 15 ClinVar
OMIM		 PMID:12908099 NCBI chr10:39,390,578...39,405,322
Ensembl chr10:39,390,581...39,405,311 		JBrowse link
G Pgls 6-phosphogluconolactonase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr16:20,020,444...20,025,930
Ensembl chr16:20,020,444...20,025,930 		JBrowse link
G Pkm pyruvate kinase M1/2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 8:64,480,963...64,502,957
Ensembl chr 8:64,481,172...64,502,722 		JBrowse link
G Plek pleckstrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr14:100,151,518...100,184,192
Ensembl chr14:100,151,210...100,217,913 		JBrowse link
G Pls3 plastin 3 ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 ClinVar
OMIM		 PMID:24088041 PMID:24088043 PMID:26633545 NCBI chr  X:119,030,311...119,124,268
Ensembl chr  X:119,030,419...119,124,250 		JBrowse link
G Pnp purine nucleoside phosphorylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr15:27,875,883...27,883,566
Ensembl chr15:27,875,911...27,883,350 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:3017235 PMID:4367732 PMID:6143199 PMID:6254450 PMID:19153526 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967 		JBrowse link
G Prdx3 peroxiredoxin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 1:282,238,774...282,251,193
Ensembl chr 1:282,238,773...282,251,257 		JBrowse link
G Psma2 proteasome 20S subunit alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr17:53,091,937...53,102,324
Ensembl chr17:53,091,933...53,102,342 		JBrowse link
G Psma5 proteasome 20S subunit alpha 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 2:211,050,344...211,073,706
Ensembl chr 2:211,050,360...211,073,714 		JBrowse link
G Ptger4 prostaglandin E receptor 4 treatment IMP RGD PMID:16442794 RGD:10043381 NCBI chr 2:54,951,625...54,966,470
Ensembl chr 2:54,952,821...54,963,448 		JBrowse link
G Pth parathyroid hormone treatment IDA
ISO
IEP		 CTD Direct Evidence: therapeutic
protein:decreased expression:serum (rat)		 CTD PMID:15710971 PMID:17317460 PMID:17882678 PMID:19578808 PMID:21306167 PMID:30639440, PMID:23161222, PMID:22312238 RGD:7242793, RGD:7242907 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761 		JBrowse link
G Rab7b Rab7b, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr13:48,456,143...48,483,714
Ensembl chr13:48,455,923...48,482,138 		JBrowse link
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18847324 NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151 		JBrowse link
G Rsu1 Ras suppressor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr17:80,388,477...80,577,338
Ensembl chr17:80,389,157...80,577,027 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Osteoporosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101 		JBrowse link
G Sirt1 sirtuin 1 treatment IDA
IMP		 RGD PMID:22555620, PMID:25377437 RGD:10047129, RGD:10053568 NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199 		JBrowse link
G Sod2 superoxide dismutase 2 susceptibility
no_association		 ISO DNA:SNPs:intron, exon:g.31A>G, g.327C>T (p.A16V) (rs5746094, rs4880) (human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs:5' utr, exon, intron:multiple		 CTD PMID:18924182, PMID:26336112, PMID:26336112 RGD:11035299, RGD:11035299 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587 		JBrowse link
G Terc telomerase RNA component ISS OMIM:166710 MouseDO NCBI chr 2:116,432,723...116,433,110
Ensembl chr 2:116,432,691...116,433,110 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment IEP
ISO		 associated with Uremia;protein:increased expression:osteoblast, osteoclast
CTD Direct Evidence: marker/mechanism		 CTD PMID:12706579, PMID:17647196 RGD:10003128 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199 		JBrowse link
G Tln1 talin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 5:59,033,635...59,063,592
Ensembl chr 5:59,033,636...59,063,592 		JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11A ISO RGD PMID:17002564 RGD:1625350 NCBI chr13:25,778,306...25,835,802
Ensembl chr13:25,778,317...25,835,957 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17667143 NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO RGD PMID:17002564 RGD:1625350 NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299 		JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO CTD Direct Evidence: therapeutic CTD PMID:17882678, PMID:17002564 RGD:1625350 NCBI chr15:60,482,527...60,512,704
Ensembl chr15:60,482,527...60,512,704 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 4:157,328,375...157,331,905
Ensembl chr 4:157,328,379...157,331,905 		JBrowse link
G Tpm4 tropomyosin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr16:19,385,810...19,399,851
Ensembl chr16:19,385,736...19,399,903 		JBrowse link
G Tuba1b tubulin, alpha 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 7:140,614,746...140,617,721
Ensembl chr 7:140,614,752...140,617,721 		JBrowse link
G Tuba1c tubulin, alpha 1C ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 7:140,716,113...140,723,717
Ensembl chr 7:140,716,113...140,723,714 		JBrowse link
G U2af1 U2 small nuclear RNA auxiliary factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr20:10,396,652...10,407,564
Ensembl chr20:10,396,621...10,407,554 		JBrowse link
G Ugt2b17 UDP glucuronosyltransferase family 2 member B17 ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 12 ClinVar
OMIM		 PMID:18992858 NCBI chr14:22,724,399...22,736,148
Ensembl chr14:22,724,070...22,825,444 		JBrowse link
G Vcl vinculin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr15:3,455,211...3,544,738
Ensembl chr15:3,455,211...3,544,702 		JBrowse link
G Vdr vitamin D receptor no_association ISO
ISS		 associated with Cystic Fibrosis
OMIM:166710		 MouseDO PMID:16713399 RGD:4889871 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166 		JBrowse link
G Wdr1 WD repeat domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr14:76,990,014...77,023,739
Ensembl chr14:76,989,919...77,023,726 		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		 ClinVar
CTD
OMIM		 PMID:23499309 PMID:23656646 NCBI chr 7:140,464,999...140,469,046
Ensembl chr 7:140,464,999...140,469,046 		JBrowse link
G Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20548961 NCBI chr 1:104,106,211...104,145,045
Ensembl chr 1:104,106,245...104,145,044 		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 ClinVar Annotator: match by term: Premature aging syndrome, Penttinen type OMIM
ClinVar		 PMID:9056558 PMID:23720404 PMID:23731537 PMID:23731542 PMID:25158255 PMID:25741868 PMID:26279204 PMID:26455322 PMID:28183292 PMID:28334876 PMID:28492532 NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381 		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 IEP protein:increased expression:femur (rat) RGD PMID:19736603 RGD:2315910 NCBI chr 8:23,142,733...23,149,067
Ensembl chr 8:23,142,734...23,148,396 		JBrowse link
G Ar androgen receptor ISO RGD PMID:12593895 RGD:1578682 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026 		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 chr  X:17,016,831...17,021,894
Ensembl chr  X:17,016,778...17,023,418 		JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17227729 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058 		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 chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789 		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 chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151 		JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO DNA:snps:exon:multiple (human) RGD PMID:17118999 RGD:1600860 NCBI chr 8:58,744,849...58,772,408
Ensembl chr 8:58,744,849...58,772,408 		JBrowse link
G Esr1 estrogen receptor 1 treatment
susceptibility		 ISO DNA:SNP:intron:IVS1T>C (human)
DNA:SNPs, haplotype:intron: (rs2234693, rs9340799) (human)		 RGD PMID:16604479, PMID:16972020 RGD:8158082, RGD:10045838 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796 		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:22335445, PMID:17945165 RGD:1626507, RGD:10045849, RGD:10045847 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251 		JBrowse link
G Fdps farnesyl diphosphate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:31774873 NCBI chr 2:188,403,595...188,413,219
Ensembl chr 2:188,392,858...188,413,219 		JBrowse link
G Fgf23 fibroblast growth factor 23 ISO protein:increased expression: : RGD PMID:24101107 RGD:10044241 NCBI chr 4:159,622,404...159,630,082
Ensembl chr 4:159,622,404...159,630,082 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha treatment IMP
ISO		 RGD PMID:24023068, PMID:18067744 RGD:10402191, RGD:10402540 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:decreased expression:serum: RGD PMID:11063288 RGD:10045861 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609 		JBrowse link
G Igf2 insulin-like growth factor 2 treatment ISO RGD PMID:16753016 RGD:10402556 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032749 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032749 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807 		JBrowse link
G Il7 interleukin 7 treatment ISO RGD PMID:23662133 RGD:10402930 NCBI chr 2:96,427,884...96,474,979
Ensembl chr 2:96,439,286...96,474,977 		JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Postmenopausal osteoporosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:218,816,833...218,920,147
Ensembl chr 1:218,816,841...218,920,094 		JBrowse link
G Nrip1 nuclear receptor interacting protein 1 susceptibility ISO DNA:silent mutation:cds:p.G75G (human) RGD PMID:22335445 RGD:10045849 NCBI chr11:14,658,225...14,742,478
Ensembl chr11:14,658,225...14,741,563 		JBrowse link
G Ptger4 prostaglandin E receptor 4 treatment IMP RGD PMID:11917107 RGD:10003045 NCBI chr 2:54,951,625...54,966,470
Ensembl chr 2:54,952,821...54,963,448 		JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: therapeutic CTD PMID:20567999 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761 		JBrowse link
G Ptk2b protein tyrosine kinase 2 beta IMP RGD PMID:17537919 RGD:1642610 NCBI chr15:42,827,306...42,947,796
Ensembl chr15:42,827,310...42,947,656 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10750555 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032749 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 		JBrowse link
G Vdr vitamin D receptor treatment ISO DNA:SNP:exon: (rs2228570) (human) GAD
RGD		 PMID:15118671, PMID:16604479 RGD:1331525, RGD:8158082 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166 		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 chr 3:48,557,696...48,604,097
Ensembl chr 3:48,557,696...48,604,097 		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 ClinVar Annotator: match by term: Singleton-Merten syndrome 1 OMIM
ClinVar		 PMID:21070929 PMID:24686847 PMID:24995871 PMID:25620204 PMID:25741868 PMID:28319323 PMID:28492532 PMID:29270977 PMID:30707351 NCBI chr 3:48,557,696...48,604,097
Ensembl chr 3:48,557,696...48,604,097 		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 ClinVar Annotator: match by term: Singleton-Merten syndrome 2 ClinVar
OMIM		 PMID:25620203 PMID:25741868 NCBI chr 5:56,486,584...56,536,898
Ensembl chr 5:56,500,734...56,536,772 		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 ClinVar Annotator: match by term: Warburg-Cinotti syndrome ClinVar
OMIM		 PMID:17103436 PMID:23637089 PMID:25741868 PMID:30449416 NCBI chr13:88,311,639...88,436,561
Ensembl chr13:88,317,145...88,436,789 		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 ClinVar Annotator: match by term: Winchester syndrome ClinVar
OMIM		 PMID:4238825 PMID:22922033 PMID:25741868 NCBI chr15:33,074,441...33,083,666
Ensembl chr15:33,074,441...33,083,655 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      musculoskeletal system disease 5288
        bone disease 2988
          bone resorption disease 350
            Alveolar Bone Loss 6
            Osteolysis + 23
            ainhum + 0
            osteitis fibrosa 0
            osteoporosis + 325
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      musculoskeletal system disease 5288
        connective tissue disease 3631
          bone disease 2988
            bone remodeling disease 425
              bone resorption disease 350
                Alveolar Bone Loss 6
                Osteolysis + 23
                ainhum + 0
                osteitis fibrosa 0
                osteoporosis + 325
paths to the root