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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 chr12:35,497,979...35,534,989
Ensembl chr12:35,497,974...35,535,038
JBrowse link
G Bmp7 bone morphogenetic protein 7 ISO CTD Direct Evidence: therapeutic CTD PMID:17513972 NCBI chr 2:172,868,012...172,940,321
Ensembl chr 2:172,868,012...172,940,321
JBrowse link
G Col2a1 collagen, type II, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27028940 NCBI chr15:97,975,602...98,004,724
Ensembl chr15:97,975,602...98,004,695
JBrowse link
G Cxcl2 chemokine (C-X-C motif) ligand 2 ISO CTD Direct Evidence: therapeutic CTD PMID:21507677 NCBI chr 5:90,903,899...90,905,938
Ensembl chr 5:90,903,871...90,905,938
JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11985600 NCBI chr 9:54,165,937...54,268,164
Ensembl chr 9:54,165,937...54,268,110
JBrowse link
G Ghrl ghrelin ISO CTD Direct Evidence: therapeutic CTD PMID:29477364 NCBI chr 6:113,716,119...113,719,911
Ensembl chr 6:113,716,119...113,719,880
JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:9881647 NCBI chr 7:113,385,576...113,388,672
Ensembl chr 7:113,385,580...113,388,570
JBrowse link
G Pthlh parathyroid hormone-like peptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:16769263 NCBI chr 6:147,252,109...147,264,013
Ensembl chr 6:147,252,101...147,264,183
JBrowse link
G Tnfrsf11b tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin) ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:15845617 PMID:18496637 PMID:23333834 NCBI chr15:54,250,619...54,278,484
Ensembl chr15:54,250,619...54,278,484
JBrowse link
G Tnfsf11 tumor necrosis factor (ligand) superfamily, member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26319416 NCBI chr14:78,277,446...78,308,043
Ensembl chr14:78,277,445...78,308,043
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 chr18:73,634,790...73,703,791
Ensembl chr18:73,639,009...73,703,780
JBrowse link
G Zmpste24 zinc metallopeptidase, STE24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12913070 PMID:17152860 NCBI chr 4:121,059,237...121,098,249
Ensembl chr 4:121,059,237...121,098,241
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, liver/bone/kidney ISO CTD Direct Evidence: marker/mechanism CTD PMID:20630305 NCBI chr 4:137,741,731...137,796,384
Ensembl chr 4:137,741,733...137,796,384
JBrowse link
G Ccr2 chemokine (C-C motif) receptor 2 IMP associated with Periodontitis; RGD PMID:21241302 RGD:8661687 NCBI chr 9:124,101,918...124,109,140
Ensembl chr 9:124,101,950...124,113,557
JBrowse link
G Il10 interleukin 10 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:26270535 RGD:11049527 NCBI chr 1:131,019,845...131,024,970
Ensembl chr 1:131,019,845...131,024,974
JBrowse link
G Parp1 poly (ADP-ribose) polymerase family, member 1 IMP RGD PMID:14630900 RGD:10413909 NCBI chr 1:180,568,891...180,600,999
Ensembl chr 1:180,568,924...180,601,254
JBrowse link
G Tnf tumor necrosis factor treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:26270535 RGD:11049527 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Tnfsf11 tumor necrosis factor (ligand) superfamily, member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19249596 NCBI chr14:78,277,446...78,308,043
Ensembl chr14:78,277,445...78,308,043
JBrowse link
familial expansile osteolysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfrsf11a tumor necrosis factor receptor superfamily, member 11a, NFKB activator 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 chr 1:105,780,673...105,849,444
Ensembl chr 1:105,780,718...105,847,981
JBrowse link
Hajdu-Cheney syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch2 notch 2 ISO
IEA
ClinVar Annotator: match by term: Hajdu-Cheney syndrome
OMIM:102500
ClinVar Annotator: match by OMIM:102500
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
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 3:98,013,538...98,150,367
Ensembl chr 3:98,013,527...98,150,361
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 (Hageman factor) ISO ClinVar Annotator: match by term: Hypophosphatemic Nephrolithiasis/Osteoporosis
ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic
ClinVar PMID:8528215 PMID:9354665 PMID:21920016 PMID:23348723 PMID:24029428 PMID:24033266 PMID:25524745 PMID:25741868 PMID:28492532 NCBI chr13:55,417,958...55,426,804
Ensembl chr13:55,417,958...55,426,793
JBrowse link
G Slc34a1 solute carrier family 34 (sodium phosphate), member 1 ISO ClinVar Annotator: match by term: Hypophosphatemic Nephrolithiasis/Osteoporosis
ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic
ClinVar PMID:8528215 PMID:9354665 PMID:21920016 PMID:23348723 PMID:24029428 PMID:24033266 PMID:25524745 PMID:25741868 PMID:28492532 NCBI chr13:55,399,622...55,414,695
Ensembl chr13:55,398,187...55,415,592
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 (Hageman factor) ISO ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic, 1 ClinVar PMID:28492532 NCBI chr13:55,417,958...55,426,804
Ensembl chr13:55,417,958...55,426,793
JBrowse link
G Slc34a1 solute carrier family 34 (sodium phosphate), 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 chr13:55,399,622...55,414,695
Ensembl chr13:55,398,187...55,415,592
JBrowse link
hypophosphatemic nephrolithiasis/osteoporosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc9a3r1 solute carrier family 9 (sodium/hydrogen exchanger), member 3 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 chr11:115,163,341...115,181,178
Ensembl chr11:115,163,341...115,181,181
JBrowse link
idiopathic juvenile osteoporosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp5 low density lipoprotein 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 chr19:3,584,825...3,686,585
Ensembl chr19:3,584,828...3,686,564
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:9536098 PMID:10581027 PMID:10593994 PMID:10662807 PMID:11180012 PMID:11180601 PMID:11886537 PMID:12112662 PMID:14974080 PMID:17576681 PMID:18809751 PMID:18945301 PMID:23311634 PMID:24033266 PMID:24936511 PMID:25741868 PMID:28242153 PMID:28492532 PMID:29410039 NCBI chr 7:88,278,024...88,315,861
Ensembl chr 7:88,278,085...88,310,888
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 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:21465660 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 3:88,481,148...88,509,932
Ensembl chr 3:88,480,147...88,509,956
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18554282 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Zmpste24 zinc metallopeptidase, STE24 ISO ClinVar Annotator: match by term: Mandibuloacral dysostosis ClinVar NCBI chr 4:121,059,237...121,098,249
Ensembl chr 4:121,059,237...121,098,241
JBrowse link
multicentric carpotarsal osteolysis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mafb v-maf musculoaponeurotic fibrosarcoma oncogene family, protein B (avian) ISO
IEA
ClinVar Annotator: match by term: Multicentric carpo-tarsal osteolysis with or without nephropathy
OMIM:166300
ClinVar Annotator: match by term: Multicentric osteolysis nephropathy
ClinVar Annotator: match by OMIM:166300
OMIM
ClinVar
MouseDO
PMID:20436469 PMID:22387013 PMID:24989131 PMID:25741868 PMID:28492532 PMID:30208859 NCBI chr 2:160,363,677...160,367,065
Ensembl chr 2:160,363,703...160,367,065
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 chr19:5,364,633...5,366,876
Ensembl chr19:5,364,638...5,367,168
JBrowse link
G Eif1ad eukaryotic translation initiation factor 1A domain containing ISO ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome ClinVar NCBI chr19:5,366,813...5,371,518
Ensembl chr19:5,366,741...5,371,526
JBrowse link
Osteolysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr2 anthrax toxin receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12973667 NCBI chr 5:97,884,688...98,031,017
Ensembl chr 5:97,882,783...98,031,043
JBrowse link
G Ibsp integrin binding sialoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22407340 NCBI chr 5:104,299,287...104,311,472
Ensembl chr 5:104,299,171...104,311,469
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO OMIM:277950, Winchester syndrome RGD PMID:16542393 RGD:1601416 NCBI chr 8:92,827,290...92,853,421
Ensembl chr 8:92,827,291...92,853,420
JBrowse link
G Mmp7 matrix metallopeptidase 7 IMP associated with Prostatic Neoplasms RGD PMID:15894268 RGD:9685352 NCBI chr 9:7,692,090...7,699,585
Ensembl chr 9:7,692,090...7,699,585
JBrowse link
G Pthlh parathyroid hormone-like peptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:11054717 NCBI chr 6:147,252,109...147,264,013
Ensembl chr 6:147,252,101...147,264,183
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22407340 NCBI chr 5:104,435,111...104,441,053
Ensembl chr 5:104,435,118...104,441,050
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15878362 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Tnfrsf11b tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin) ISO CTD Direct Evidence: therapeutic CTD PMID:12548581 NCBI chr15:54,250,619...54,278,484
Ensembl chr15:54,250,619...54,278,484
JBrowse link
G Tnfsf11 tumor necrosis factor (ligand) superfamily, member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18606716 NCBI chr14:78,277,446...78,308,043
Ensembl chr14:78,277,445...78,308,043
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 chr 8:92,855,313...92,919,279
Ensembl chr 8:92,855,339...92,919,279
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 chr 8:92,827,290...92,853,421
Ensembl chr 8:92,827,291...92,853,420
JBrowse link
osteoporosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abl1 c-abl oncogene 1, non-receptor tyrosine kinase IMP RGD PMID:10700189 RGD:10047094 NCBI chr 2:31,688,244...31,807,093
Ensembl chr 2:31,688,376...31,804,227
JBrowse link
G Ace angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 ISO associated with Hypertension RGD PMID:19590507 RGD:2325225 NCBI chr11:105,967,948...105,989,964
Ensembl chr11:105,967,945...105,989,964
JBrowse link
G Actg1 actin, gamma, cytoplasmic 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr11:120,345,687...120,348,495
Ensembl chr11:120,345,690...120,348,542
JBrowse link
G Adcy5 adenylate cyclase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18029912 NCBI chr16:35,154,494...35,305,743
Ensembl chr16:35,154,877...35,305,738
JBrowse link
G Ager advanced glycosylation end product-specific receptor IEP
ISO
mRNA:increased expression:proximal end of left femur (rat) RGD PMID:21542009, PMID:22036861 RGD:6767561, RGD:7245948 NCBI chr17:34,597,460...34,600,937
Ensembl chr17:34,597,862...34,600,936
JBrowse link
G Antxr2 anthrax toxin receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12973667 NCBI chr 5:97,884,688...98,031,017
Ensembl chr 5:97,882,783...98,031,043
JBrowse link
G Anxa2 annexin A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 9:69,453,683...69,491,792
Ensembl chr 9:69,453,620...69,491,795
JBrowse link
G Ar androgen receptor treatment ISO
IDA
RGD PMID:14600402, PMID:18847323 RGD:10043196, RGD:10043198 NCBI chr  X:98,148,757...98,323,218
Ensembl chr  X:98,148,769...98,323,215
JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 1:71,557,156...71,579,403
Ensembl chr 1:71,557,150...71,579,631
JBrowse link
G Atm ataxia telangiectasia mutated IMP RGD PMID:16644862 RGD:10047420 NCBI chr 9:53,437,122...53,536,828
Ensembl chr 9:53,439,149...53,536,740
JBrowse link
G Atp4b ATPase, H+/K+ exchanging, beta polypeptide treatment IMP RGD PMID:26869358 RGD:14696735 NCBI chr 8:13,386,209...13,396,778
Ensembl chr 8:13,386,205...13,396,825
JBrowse link
G Bax BCL2-associated X protein treatment ISO RGD PMID:22648569 RGD:10054093 NCBI chr 7:45,461,695...45,466,903
Ensembl chr 7:45,461,697...45,466,898
JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 treatment ISO RGD PMID:22648569 RGD:10054093 NCBI chr 1:106,538,176...106,714,290
Ensembl chr 1:106,538,178...106,714,274
JBrowse link
G Bglap 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:21550389, PMID:23137636, PMID:15108065 RGD:6483552, RGD:10045665, RGD:6483579 NCBI chr 3:88,383,495...88,384,466
Ensembl chr 3:88,383,501...88,384,464
JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO RGD PMID:17002564 RGD:1625350 NCBI chr 2:133,552,159...133,562,896
Ensembl chr 2:133,552,159...133,562,885
JBrowse link
G Calca calcitonin/calcitonin-related polypeptide, alpha ISO RGD PMID:2502220 RGD:734677 NCBI chr 7:114,625,981...114,636,910
Ensembl chr 7:114,631,478...114,636,357
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 6:3,685,678...3,764,713
Ensembl chr 6:3,685,680...3,764,714
JBrowse link
G Cap1 CAP, adenylate cyclase-associated protein 1 (yeast) ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 4:122,859,048...122,886,076
Ensembl chr 4:122,859,047...122,886,056
JBrowse link
G Car2 carbonic anhydrase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 3:14,886,269...14,900,770
Ensembl chr 3:14,886,273...14,900,770
JBrowse link
G Cct2 chaperonin containing Tcp1, subunit 2 (beta) ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr10:117,050,997...117,063,852
Ensembl chr10:117,051,001...117,063,814
JBrowse link
G Ciita class II transactivator IEA OMIM:166710 MouseDO NCBI chr16:10,480,014...10,531,064
Ensembl chr16:10,480,059...10,528,418
JBrowse link
G Clec11a C-type lectin domain family 11, member a ISO CTD Direct Evidence: marker/mechanism CTD PMID:27976999 NCBI chr 7:44,303,766...44,306,959
Ensembl chr 7:44,302,687...44,306,902
JBrowse link
G Col1a1 collagen, type I, alpha 1 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 chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Col1a2 collagen, type I, alpha 2 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 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544
JBrowse link
G Ctsk cathepsin K IMP RGD PMID:10469835 RGD:734856 NCBI chr 3:95,499,210...95,509,387
Ensembl chr 3:95,499,256...95,509,362
JBrowse link
G Cxcr4 chemokine (C-X-C motif) receptor 4 ISO RGD PMID:29882473 RGD:14700776 NCBI chr 1:128,588,199...128,592,299
Ensembl chr 1:128,588,199...128,592,293
JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO DNA:snps:multiple (human) RGD PMID:17002564 RGD:1625350 NCBI chr19:46,667,165...46,673,000
Ensembl chr19:46,667,165...46,673,172
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 9:54,165,937...54,268,164
Ensembl chr 9:54,165,937...54,268,110
JBrowse link
G Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22337913 NCBI chr 2:170,482,957...170,497,145
Ensembl chr 2:170,482,708...170,497,145
JBrowse link
G Daam2 dishevelled associated activator of morphogenesis 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30598549 NCBI chr17:49,456,022...49,564,459
Ensembl chr17:49,456,022...49,564,343
JBrowse link
G Dbp D site albumin promoter binding protein ISO RGD PMID:17002564 RGD:1625350 NCBI chr 7:45,705,100...45,710,203
Ensembl chr 7:45,705,088...45,710,203
JBrowse link
G Dspp dentin sialophosphoprotein ISO protein:decreased expression:incisor dental pulp (rat) RGD PMID:23974864 RGD:12911019 NCBI chr 5:104,170,703...104,180,127
Ensembl chr 5:104,170,712...104,180,127
JBrowse link
G Eno1 enolase 1, alpha non-neuron ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 4:150,236,708...150,248,879
Ensembl chr 4:150,236,721...150,248,879
JBrowse link
G Ercc1 excision repair cross-complementing rodent repair deficiency, complementation group 1 IMP RGD PMID:23281008 RGD:10045609 NCBI chr 7:19,344,067...19,356,524
Ensembl chr 7:19,344,778...19,356,524
JBrowse link
G Esr1 estrogen receptor 1 (alpha) 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 chr10:4,611,989...5,005,633
Ensembl chr10:4,611,593...5,005,614
JBrowse link
G Esr2 estrogen receptor 2 (beta) 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 chr12:76,120,419...76,177,259
Ensembl chr12:76,120,419...76,177,259
JBrowse link
G Esrra estrogen related receptor, alpha IMP RGD PMID:19936213 RGD:10401868 NCBI chr19:6,910,977...6,922,048
Ensembl chr19:6,910,977...6,921,813
Ensembl chr19:6,910,977...6,921,813
JBrowse link
G Fga fibrinogen alpha chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 3:83,026,153...83,033,627
Ensembl chr 3:83,026,076...83,033,627
JBrowse link
G Fgb fibrinogen beta chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 3:83,042,246...83,049,863
Ensembl chr 3:83,040,141...83,049,863
JBrowse link
G G6pdx glucose-6-phosphate dehydrogenase X-linked 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:74,409,483...74,428,880
Ensembl chr  X:74,409,483...74,429,194
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 6:125,161,852...125,166,467
Ensembl chr 6:125,161,715...125,166,467
JBrowse link
G Gh growth hormone ISO associated with Diabetes Mellitus, Experimental RGD PMID:1466160 RGD:10003132 NCBI chr11:106,300,261...106,303,703
Ensembl chr11:106,300,271...106,301,865
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 chr15:3,317,755...3,583,352
Ensembl chr15:3,317,760...3,583,492
JBrowse link
G Gorab golgin, RAB6-interacting ISO CTD Direct Evidence: marker/mechanism CTD PMID:18997784 NCBI chr 1:163,384,903...163,403,669
Ensembl chr 1:163,384,908...163,403,669
JBrowse link
G Gpc6 glypican 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28869591 NCBI chr14:116,924,920...117,979,529
Ensembl chr14:116,925,315...117,976,544
JBrowse link
G Gpd2 glycerol phosphate dehydrogenase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 2:57,237,678...57,370,719
Ensembl chr 2:57,237,635...57,370,719
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 9:108,339,080...108,340,342
Ensembl chr 9:108,338,903...108,340,343
JBrowse link
G Gsn gelsolin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 2:35,256,359...35,307,902
Ensembl chr 2:35,256,380...35,307,892
JBrowse link
G Gsr glutathione reductase ISO protein:decreased expression:blood RGD PMID:19464221 RGD:10401828 NCBI chr 8:33,653,238...33,698,162
Ensembl chr 8:33,652,523...33,698,163
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 chr19:4,035,411...4,037,912
Ensembl chr19:4,035,407...4,037,985
JBrowse link
G Hfe homeostatic iron regulator IMP associated with hemochromatosis RGD PMID:26829642 RGD:14746963 NCBI chr13:23,702,034...23,710,854
Ensembl chr13:23,702,034...23,710,854
JBrowse link
G Htr2c 5-hydroxytryptamine (serotonin) receptor 2C ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 ClinVar PMID:24088041 PMID:26633545 NCBI chr  X:146,962,464...147,197,277
Ensembl chr  X:146,962,513...147,197,277
JBrowse link
G Id4 inhibitor of DNA binding 4 IEA OMIM:166710 MouseDO NCBI chr13:48,261,116...48,266,028
Ensembl chr13:48,261,228...48,266,026
JBrowse link
G Idh2 isocitrate dehydrogenase 2 (NADP+), mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 7:80,094,845...80,118,608
Ensembl chr 7:80,094,846...80,115,392
JBrowse link
G Ifngr1 interferon gamma receptor 1 IEA OMIM:166710 MouseDO NCBI chr10:19,591,949...19,610,229
Ensembl chr10:19,591,949...19,610,229
JBrowse link
G Igf1 insulin-like growth factor 1 treatment IEP
ISO
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 chr10:87,858,265...87,937,047
Ensembl chr10:87,858,265...87,937,042
JBrowse link
G Igf1r insulin-like growth factor I receptor ISO RGD PMID:18079194 RGD:10045888 NCBI chr 7:67,952,257...68,233,668
Ensembl chr 7:67,952,827...68,233,668
JBrowse link
G Igf2 insulin-like growth factor 2 treatment ISO RGD PMID:12162999 RGD:10402555 NCBI chr 7:142,650,768...142,666,816
Ensembl chr 7:142,650,766...142,666,816
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:decreased expression:serum RGD PMID:9284698 RGD:10402579 NCBI chr11:7,206,086...7,215,498
Ensembl chr11:7,206,086...7,213,923
JBrowse link
G Il13ra2 interleukin 13 receptor, alpha 2 ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 ClinVar PMID:24088041 PMID:26633545 NCBI chr  X:147,383,478...147,429,192
Ensembl chr  X:147,383,476...147,429,192
JBrowse link
G Il1a interleukin 1 alpha ISO associated with Arthritis, Rheumatoid RGD PMID:10555884 RGD:6907107 NCBI chr 2:129,299,609...129,310,186
Ensembl chr 2:129,299,610...129,309,972
JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:22997530 RGD:7204491 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G Il1rn interleukin 1 receptor antagonist treatment ISO human protein in a rat model RGD PMID:8182127 RGD:8551834 NCBI chr 2:24,336,860...24,351,491
Ensembl chr 2:24,336,853...24,351,494
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15995586 NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Il6ra interleukin 6 receptor, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15995586 NCBI chr 3:89,869,324...89,913,196
Ensembl chr 3:89,864,059...89,913,196
JBrowse link
G Irak3 interleukin-1 receptor-associated kinase 3 IEA OMIM:166710 MouseDO NCBI chr10:120,141,648...120,202,130
Ensembl chr10:120,141,648...120,202,130
JBrowse link
G Irs1 insulin receptor substrate 1 ISO mRNA, protein:decreased expression:multiple RGD PMID:22820932 RGD:7207063 NCBI chr 1:82,233,105...82,291,439
Ensembl chr 1:82,233,112...82,235,933
Ensembl chr 1:82,233,112...82,235,933
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 chr 8:10,984,681...11,008,929
Ensembl chr 8:10,984,681...11,008,458
JBrowse link
G Kl klotho IMP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:9363890, PMID:9363890 RGD:10403047 NCBI chr 5:150,952,607...150,993,817
Ensembl chr 5:150,952,607...150,993,817
JBrowse link
G Lep leptin treatment ISO 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 6:29,060,221...29,073,876
Ensembl chr 6:29,060,220...29,073,877
JBrowse link
G Lepr leptin receptor susceptibility ISO DNA:polymorphisms:cds:p.K109R,Q223R(human) RGD PMID:23460508 RGD:10411886 NCBI chr 4:101,717,137...101,815,352
Ensembl chr 4:101,717,404...101,815,352
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 2:109,917,647...110,014,257
Ensembl chr 2:109,917,647...110,014,257
JBrowse link
G Lrch2 leucine-rich repeats and calponin homology (CH) domain containing 2 ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 ClinVar PMID:24088041 PMID:26633545 NCBI chr  X:147,470,375...147,554,103
Ensembl chr  X:147,470,375...147,554,081
JBrowse link
G Lrp5 low density lipoprotein receptor-related protein 5 treatment ISO 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 chr19:3,584,825...3,686,585
Ensembl chr19:3,584,828...3,686,564
JBrowse link
G Ltf lactotransferrin ISO CTD Direct Evidence: therapeutic CTD PMID:16648989 PMID:16936800 NCBI chr 9:111,019,292...111,042,766
Ensembl chr 9:111,019,271...111,042,767
JBrowse link
G Ly6a lymphocyte antigen 6 complex, locus A IEA OMIM:166710 MouseDO NCBI chr15:74,994,877...74,998,031
Ensembl chr15:74,994,877...74,998,031
JBrowse link
G Mapk14 mitogen-activated protein kinase 14 treatment ISO RGD PMID:18442314 RGD:10045965 NCBI chr17:28,691,342...28,748,405
Ensembl chr17:28,691,329...28,748,406
JBrowse link
G Mgll monoglyceride lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 6:88,724,412...88,828,360
Ensembl chr 6:88,724,412...88,828,360
JBrowse link
G Mir152 microRNA 152 ISO miRNA:increased expression:femur RGD PMID:31492082 RGD:21066345 NCBI chr11:96,850,393...96,850,465
Ensembl chr11:96,850,393...96,850,465
JBrowse link
G Mir2861 microRNA 2861 ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 15 OMIM
ClinVar
PMID:19920351 NCBI chr 2:32,712,807...32,712,888
Ensembl chr 2:32,712,807...32,712,888
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:147,158,210...147,158,321
Ensembl chr  X:147,158,210...147,158,321
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO associated with osteoporosis; protein:increased expression:serum RGD PMID:19411568 RGD:5129553 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Myc myelocytomatosis oncogene ISO RGD PMID:22704852 RGD:7240519 NCBI chr15:61,985,341...61,990,361
Ensembl chr15:61,985,391...61,990,374
JBrowse link
G Nog noggin IMP RGD PMID:12975477 RGD:10414323 NCBI chr11:89,300,638...89,302,559
Ensembl chr11:89,300,638...89,302,332
JBrowse link
G Nrip1 nuclear receptor interacting protein 1 ISO DNA:silent mutation, haplotype:p.G75G (human) RGD PMID:16530497 RGD:10045825 NCBI chr16:76,287,403...76,373,827
Ensembl chr16:76,287,400...76,373,827
JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Osteoporosis ClinVar PMID:25741868 NCBI chr16:29,579,281...29,663,127
Ensembl chr16:29,579,334...29,654,884
JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr15:4,026,428...4,155,344
Ensembl chr15:4,026,383...4,155,344
JBrowse link
G P4hb prolyl 4-hydroxylase, beta polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr11:120,560,298...120,573,253
Ensembl chr11:120,560,298...120,573,253
JBrowse link
G Park7 Parkinson disease (autosomal recessive, early onset) 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 4:150,897,133...150,909,921
Ensembl chr 4:150,897,133...150,914,437
JBrowse link
G Pcna proliferating cell nuclear antigen ISO protein:increased expression:osteoblast: RGD PMID:22550338 RGD:10045656 NCBI chr 2:132,249,286...132,253,180
Ensembl chr 2:132,249,162...132,253,314
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 chr11:54,054,928...54,069,032
Ensembl chr11:54,054,928...54,069,014
JBrowse link
G Pgls 6-phosphogluconolactonase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 8:71,592,184...71,596,267
Ensembl chr 8:71,592,176...71,601,092
JBrowse link
G Pkm pyruvate kinase, muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 9:59,656,576...59,679,372
Ensembl chr 9:59,656,368...59,679,375
JBrowse link
G Plek pleckstrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr11:16,971,206...17,008,718
Ensembl chr11:16,971,206...17,052,381
JBrowse link
G Pls3 plastin 3 (T-isoform) ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 ClinVar
OMIM
PMID:24088041 PMID:24088043 PMID:26633545 NCBI chr  X:75,785,653...75,875,182
Ensembl chr  X:75,785,654...75,875,182
JBrowse link
G Pnp2 purine-nucleoside phosphorylase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr14:50,956,141...50,964,751
Ensembl chr14:50,955,992...50,964,749
JBrowse link
G Pomc pro-opiomelanocortin-alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:3017235 PMID:4367732 PMID:6143199 PMID:6254450 PMID:19153526 NCBI chr12:3,954,945...3,960,643
Ensembl chr12:3,954,951...3,960,642
JBrowse link
G Prdx3 peroxiredoxin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr19:60,864,066...60,874,538
Ensembl chr19:60,864,051...60,874,556
JBrowse link
G Psma2 proteasome subunit alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr13:14,613,242...14,625,673
Ensembl chr13:14,613,240...14,674,236
JBrowse link
G Psma5 proteasome subunit alpha 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 3:108,256,926...108,279,952
Ensembl chr 3:108,256,926...108,279,974
JBrowse link
G Ptger4 prostaglandin E receptor 4 (subtype EP4) treatment ISO RGD PMID:16442794 RGD:10043381 NCBI chr15:5,233,399...5,244,187
Ensembl chr15:5,206,661...5,244,187
JBrowse link
G Pth parathyroid hormone treatment ISO 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 7:113,385,576...113,388,672
Ensembl chr 7:113,385,580...113,388,570
JBrowse link
G Rab7b RAB7B, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 1:131,688,681...131,715,443
Ensembl chr 1:131,688,695...131,715,439
JBrowse link
G Ren1 renin 1 structural ISO CTD Direct Evidence: marker/mechanism CTD PMID:18847324 NCBI chr 1:133,350,674...133,360,320
Ensembl chr 1:133,350,510...133,360,325
JBrowse link
G Rsu1 Ras suppressor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 2:13,076,967...13,271,438
Ensembl chr 2:13,076,821...13,271,415
JBrowse link
G Ryr1 ryanodine receptor 1, skeletal muscle ISO ClinVar Annotator: match by term: Osteoporosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:29,003,340...29,125,179
Ensembl chr 7:29,003,344...29,125,179
JBrowse link
G Sirt1 sirtuin 1 treatment ISO RGD PMID:22555620, PMID:25377437 RGD:10047129, RGD:10053568 NCBI chr10:63,319,005...63,339,035
Ensembl chr10:63,319,005...63,381,704
JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial 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 chr17:13,007,839...13,018,119
Ensembl chr17:13,006,846...13,040,063
JBrowse link
G Terc telomerase RNA component IEA OMIM:166710 MouseDO NCBI chr 3:96,414,437...96,414,833
Ensembl chr 3:96,414,437...96,414,859
Ensembl chr 3:96,414,437...96,414,859
JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment ISO associated with Uremia;protein:increased expression:osteoblast, osteoclast
CTD Direct Evidence: marker/mechanism
CTD PMID:12706579, PMID:17647196 RGD:10003128 NCBI chr 7:25,687,002...25,705,077
Ensembl chr 7:25,687,002...25,705,077
JBrowse link
G Tln1 talin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 4:43,531,513...43,562,583
Ensembl chr 4:43,531,519...43,562,691
JBrowse link
G Tnfrsf11a tumor necrosis factor receptor superfamily, member 11a, NFKB activator ISO RGD PMID:17002564 RGD:1625350 NCBI chr 1:105,780,673...105,849,444
Ensembl chr 1:105,780,718...105,847,981
JBrowse link
G Tnfrsf11b tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin) ISO CTD Direct Evidence: marker/mechanism CTD PMID:17667143 NCBI chr15:54,250,619...54,278,484
Ensembl chr15:54,250,619...54,278,484
JBrowse link
G Tnfrsf1b tumor necrosis factor receptor superfamily, member 1b ISO RGD PMID:17002564 RGD:1625350 NCBI chr 4:145,212,368...145,246,870
Ensembl chr 4:145,213,463...145,246,870
JBrowse link
G Tnfsf11 tumor necrosis factor (ligand) superfamily, member 11 ISO
IEA
OMIM:166710
CTD Direct Evidence: therapeutic
MouseDO
CTD
PMID:17882678, PMID:17002564 RGD:1625350 NCBI chr14:78,277,446...78,308,043
Ensembl chr14:78,277,445...78,308,043
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 6:124,810,586...124,814,158
Ensembl chr 6:124,810,586...124,814,296
JBrowse link
G Tpm4 tropomyosin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 8:72,135,288...72,153,142
Ensembl chr 8:72,130,174...72,153,142
JBrowse link
G Tuba1b tubulin, alpha 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr15:98,931,429...98,934,390
Ensembl chr15:98,931,425...98,934,565
JBrowse link
G Tuba1c tubulin, alpha 1C ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr15:99,029,891...99,038,105
Ensembl chr15:99,029,891...99,038,110
JBrowse link
G U2af1 U2 small nuclear ribonucleoprotein auxiliary factor (U2AF) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr17:31,647,081...31,659,148
Ensembl chr17:31,647,081...31,658,892
JBrowse link
G Ugt2b1 UDP glucuronosyltransferase 2 family, polypeptide B1 ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 12 ClinVar
OMIM
PMID:18992858 NCBI chr 5:86,916,639...86,926,503
Ensembl chr 5:86,916,638...86,926,530
JBrowse link
G Vcl vinculin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr14:20,929,383...21,033,676
Ensembl chr14:20,929,398...21,033,676
JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor no_association ISO
IEA
associated with Cystic Fibrosis
OMIM:166710
MouseDO PMID:16713399 RGD:4889871 NCBI chr15:97,854,427...97,908,296
Ensembl chr15:97,854,425...97,910,630
JBrowse link
G Wdr1 WD repeat domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 5:38,526,806...38,562,922
Ensembl chr 5:38,526,813...38,563,221
JBrowse link
G Wnt1 wingless-type MMTV integration site 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 chr15:98,789,857...98,793,830
Ensembl chr15:98,789,857...98,793,837
JBrowse link
G Zdhhc13 zinc finger, DHHC domain containing 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20548961 NCBI chr 7:48,788,998...48,827,440
Ensembl chr 7:48,789,003...48,827,440
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 polypeptide 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:28166811 PMID:28183292 PMID:28334876 PMID:28492532 NCBI chr18:61,045,127...61,085,067
Ensembl chr18:61,045,150...61,085,061
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 chr 9:22,126,727...22,135,746
Ensembl chr 9:22,126,727...22,135,711
JBrowse link
G Ar androgen receptor ISO RGD PMID:12593895 RGD:1578682 NCBI chr  X:98,148,757...98,323,218
Ensembl chr  X:98,148,769...98,323,215
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:6,314,054...6,320,724
Ensembl chr  X:6,314,107...6,320,721
JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17227729 NCBI chr 2:103,453,904...103,485,153
Ensembl chr 2:103,453,849...103,485,160
JBrowse link
G Col1a1 collagen, type I, alpha 1 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 chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Col1a2 collagen, type I, alpha 2 ISO ClinVar Annotator: match by term: Postmenopausal osteoporosis ClinVar PMID:1463018 PMID:1978725 PMID:2052622 PMID:2985635 PMID:7695699 PMID:7860070 PMID:8094076 PMID:8218237 PMID:8786074 PMID:9016532 PMID:9272740 PMID:9399846 PMID:9594376 PMID:9923651 PMID:15172002 PMID:16705691 PMID:17078022 PMID:18028452 PMID:19344236 PMID:21520333 PMID:22589248 PMID:25326637 PMID:25450603 PMID:25741868 PMID:25944380 PMID:26432670 PMID:26604951 PMID:27519266 PMID:28492532 NCBI chr 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544
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 9:54,165,937...54,268,164
Ensembl chr 9:54,165,937...54,268,110
JBrowse link
G Esr1 estrogen receptor 1 (alpha) 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 chr10:4,611,989...5,005,633
Ensembl chr10:4,611,593...5,005,614
JBrowse link
G Esr2 estrogen receptor 2 (beta) 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 chr12:76,120,419...76,177,259
Ensembl chr12:76,120,419...76,177,259
JBrowse link
G Fdps farnesyl diphosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:31774873 NCBI chr 3:89,093,588...89,101,967
Ensembl chr 3:89,093,588...89,101,959
JBrowse link
G Fgf23 fibroblast growth factor 23 ISO protein:increased expression: : RGD PMID:24101107 RGD:10044241 NCBI chr 6:127,072,902...127,082,296
Ensembl chr 6:127,072,902...127,081,408
JBrowse link
G Hif1a hypoxia inducible factor 1, alpha subunit treatment ISO
IMP
RGD PMID:24023068, PMID:18067744 RGD:10402191, RGD:10402540 NCBI chr12:73,901,324...73,947,554
Ensembl chr12:73,901,375...73,947,530
JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:decreased expression:serum: RGD PMID:11063288 RGD:10045861 NCBI chr10:87,858,265...87,937,047
Ensembl chr10:87,858,265...87,937,042
JBrowse link
G Igf2 insulin-like growth factor 2 treatment ISO RGD PMID:16753016 RGD:10402556 NCBI chr 7:142,650,768...142,666,816
Ensembl chr 7:142,650,766...142,666,816
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032749 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032749 NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Il7 interleukin 7 treatment IEP RGD PMID:23662133 RGD:10402930 NCBI chr 3:7,572,028...7,613,760
Ensembl chr 3:7,569,994...7,613,760
JBrowse link
G Lrp5 low density lipoprotein receptor-related protein 5 ISO ClinVar Annotator: match by term: Postmenopausal osteoporosis ClinVar PMID:25741868 PMID:28492532 NCBI chr19:3,584,825...3,686,585
Ensembl chr19:3,584,828...3,686,564
JBrowse link
G Nrip1 nuclear receptor interacting protein 1 susceptibility ISO DNA:silent mutation:cds:p.G75G (human) RGD PMID:22335445 RGD:10045849 NCBI chr16:76,287,403...76,373,827
Ensembl chr16:76,287,400...76,373,827
JBrowse link
G Ptger4 prostaglandin E receptor 4 (subtype EP4) treatment ISO RGD PMID:11917107 RGD:10003045 NCBI chr15:5,233,399...5,244,187
Ensembl chr15:5,206,661...5,244,187
JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: therapeutic CTD PMID:20567999 NCBI chr 7:113,385,576...113,388,672
Ensembl chr 7:113,385,580...113,388,570
JBrowse link
G Ptk2b PTK2 protein tyrosine kinase 2 beta ISO RGD PMID:17537919 RGD:1642610 NCBI chr14:66,153,257...66,281,100
Ensembl chr14:66,153,257...66,281,052
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10750555 NCBI chr 7:25,687,002...25,705,077
Ensembl chr 7:25,687,002...25,705,077
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032749 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor treatment ISO ClinVar Annotator: match by term: Postmenopausal osteoporosis
DNA:SNP:exon: (rs2228570) (human)
ClinVar PMID:25741868, PMID:15118671, PMID:16604479 RGD:1331525, RGD:8158082 NCBI chr15:97,854,427...97,908,296
Ensembl chr15:97,854,425...97,910,630
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 2:62,595,618...62,646,255
Ensembl chr 2:62,595,798...62,646,255
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:9536098 PMID:17576681 PMID:21070929 PMID:24686847 PMID:24995871 PMID:25620204 PMID:25741868 PMID:28166811 PMID:28319323 PMID:28492532 PMID:29270977 PMID:30219631 PMID:30707351 NCBI chr 2:62,595,618...62,646,255
Ensembl chr 2:62,595,798...62,646,255
JBrowse link
Singleton-Merten Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddx58 DEAD/H box helicase 58 ISO ClinVar Annotator: match by term: Singleton-Merten syndrome 2 ClinVar
OMIM
PMID:25620203 PMID:25741868 NCBI chr 4:40,203,777...40,239,825
Ensembl chr 4:40,203,773...40,239,828
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 family, member 2 ISO ClinVar Annotator: match by term: Warburg-Cinotti syndrome ClinVar
OMIM
PMID:17103436 PMID:23637089 PMID:25741868 PMID:30449416 NCBI chr 1:169,972,307...170,110,836
Ensembl chr 1:169,972,307...170,110,762
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 (membrane-inserted) ISO ClinVar Annotator: match by term: Winchester syndrome ClinVar
OMIM
PMID:4238825 PMID:22922033 PMID:25741868 NCBI chr14:54,431,598...54,442,456
Ensembl chr14:54,431,612...54,445,364
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14269
    disease of anatomical entity 13873
      musculoskeletal system disease 5908
        bone disease 2676
          bone resorption disease 166
            Alveolar Bone Loss 6
            Osteolysis + 23
            ainhum + 0
            osteitis fibrosa 0
            osteoporosis + 141
Path 2
Term Annotations click to browse term
  disease 14269
    disease of anatomical entity 13873
      musculoskeletal system disease 5908
        connective tissue disease 4001
          bone disease 2676
            bone remodeling disease 237
              bone resorption disease 166
                Alveolar Bone Loss 6
                Osteolysis + 23
                ainhum + 0
                osteitis fibrosa 0
                osteoporosis + 141
paths to the root