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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:osteoporosis
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Accession:DOID:11476 term browser browse the term
Definition:A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength. (DO)
Synonyms:exact_synonym: Osteoporoses;   age related osteoporosis;   age-related bone loss;   age-related bone losses;   age-related osteoporoses;   involutional osteoporosis;   post-traumatic osteoporoses;   post-traumatic osteoporosis;   senile osteoporoses;   senile osteoporosis
 related_synonym: BMND;   BMND1;   BMND13;   BMND16;   BMND2;   Bone Mineral Density Quantitative Trait Locus;   Bone Mineral Density Quantitative Trait Locus 1;   Bone Mineral Density Quantitative Trait Locus 12;   Bone Mineral Density Quantitative Trait Locus 13;   Bone Mineral Density Quantitative Trait Locus 15;   Bone Mineral Density Quantitative Trait Locus 16;   Bone Mineral Density Quantitative Trait Locus 17;   Bone Mineral Density Quantitative Trait Locus 18;   Bone Mineral Density Quantitative Trait Locus 2;   FRACTURE, HIP, SUSCEPTIBILITY TO;   HBM;   HIGH BONE MASS;   OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO;   OSTEOPOROSIS, SUSCEPTIBILITY TO
 primary_id: MESH:D010024
 alt_id: OMIM:166710;   OMIM:300910;   OMIM:601884;   OMIM:605833;   OMIM:612560;   OMIM:612727;   OMIM:613418;   OMIM:615221;   OMIM:615311
 xref: ICD10CM:M81.0;   ICD9CM:733.0;   NCI:C3298
For additional species annotation, visit the Alliance of Genome Resources.


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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 9:53,118,462...53,262,092
Ensembl chr 9:53,119,641...53,261,307
JBrowse link
G ACE angiotensin I converting enzyme ISO associated with Hypertension RGD PMID:19590507 RGD:2325225 NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
JBrowse link
G ACTG1 actin gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 9:635,978...638,328
Ensembl chr 9:635,978...638,328
JBrowse link
G ADCY5 adenylate cyclase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18029912 NCBI chr33:26,345,617...26,490,120
Ensembl chr33:26,345,617...26,504,616
JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO mRNA:increased expression:proximal end of left femur (rat) RGD PMID:21542009 PMID:22036861 RGD:6767561 RGD:7245948 NCBI chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129
JBrowse link
G ANTXR2 ANTXR cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12973667 NCBI chr32:4,143,407...4,302,194
Ensembl chr32:4,148,310...4,302,071
JBrowse link
G ANXA2 annexin A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr30:25,176,845...25,210,244
Ensembl chr30:25,115,842...25,218,281
JBrowse link
G AR androgen receptor treatment ISO RGD PMID:14600402 PMID:18847323 RGD:10043196 RGD:10043198 NCBI chr24:34,713,390...34,731,461
NCBI chr  X:51,969,785...52,167,450
Ensembl chr  X:51,969,785...52,151,912
JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr37:22,420,645...22,446,769
Ensembl chr37:22,420,603...22,446,697
JBrowse link
G ATM ATM serine/threonine kinase ISO RGD PMID:16644862 RGD:10047420 NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207
JBrowse link
G ATP4B ATPase H+/K+ transporting subunit beta treatment ISO RGD PMID:26869358 RGD:14696735 NCBI chr22:60,898,801...60,904,223
Ensembl chr22:60,898,833...60,904,223
JBrowse link
G B9D2 B9 domain containing 2 treatment ISO associated with Uremia;protein:increased expression:osteoblast, osteoclast
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:12706579 PMID:17647196 RGD:10003128 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:22648569 RGD:10054093 NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464
JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO RGD PMID:22648569 RGD:10054093 NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658
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:15108065 PMID:21550389 PMID:23137636 RGD:10045665 RGD:6483552 RGD:6483579 NCBI chr 7:41,630,092...41,630,976
Ensembl chr 7:41,630,098...41,665,791
JBrowse link
G BMP2 bone morphogenetic protein 2 ISO RGD PMID:17002564 RGD:1625350 NCBI chr24:15,199,667...15,211,509
Ensembl chr24:15,200,291...15,212,217
JBrowse link
G CA2 carbonic anhydrase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr29:31,959,225...31,975,309
Ensembl chr29:31,935,172...31,980,579
JBrowse link
G CALCR calcitonin receptor susceptibility ISO DNA:SNP:cds:g.1340T>C (human) OMIM
RGD
PMID:23137636 RGD:10045665 NCBI chr14:18,923,116...19,074,904
Ensembl chr14:18,923,116...19,074,904
JBrowse link
G CAP1 cyclase associated actin cytoskeleton regulatory protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr15:2,886,661...2,913,975 JBrowse link
G CCT2 chaperonin containing TCP1 subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr10:11,560,287...11,586,559
Ensembl chr10:11,560,396...11,578,433
JBrowse link
G CLEC11A C-type lectin domain containing 11A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27976999 NCBI chr 1:106,078,055...106,080,473
Ensembl chr 1:106,078,291...106,080,517
JBrowse link
G COL1A1 collagen type I alpha 1 chain susceptibility ISO DNA:SNP, haplotype:intron:g.2046G>T (human) OMIM
RGD
PMID:23137636 RGD:10045665 NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO OMIM NCBI chr14:19,883,731...19,919,527
Ensembl chr14:19,883,868...19,919,527
JBrowse link
G CRSP-3 calcitonin receptor-stimulating peptide 3 ISO RGD PMID:2502220 RGD:734677 NCBI chr21:37,676,841...37,680,643
Ensembl chr21:37,676,841...37,680,645
JBrowse link
G CTSK cathepsin K ISO RGD PMID:10469835 RGD:734856 NCBI chr17:59,928,725...59,938,293
Ensembl chr17:59,929,287...59,938,507
JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 ISO RGD PMID:29882473 RGD:14700776 NCBI chr19:38,874,650...38,877,740
Ensembl chr19:38,874,145...38,877,740
JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 ISO DNA:snps:multiple (human) RGD PMID:17002564 RGD:1625350 NCBI chr28:15,292,959...15,298,896
Ensembl chr28:15,293,106...15,298,852
JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism
DNA:snps:multiple (human)
CTD
RGD
PMID:17002564 PMID:20723554 RGD:1625350 NCBI chr30:16,954,020...17,056,728
Ensembl chr30:16,957,215...16,988,353
JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22337913 NCBI chr24:39,861,018...39,878,161
Ensembl chr24:39,862,355...39,878,216
JBrowse link
G DAAM2 dishevelled associated activator of morphogenesis 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30598549 NCBI chr12:8,686,653...8,801,903
Ensembl chr12:8,748,655...8,799,059
JBrowse link
G DBP D-box binding PAR bZIP transcription factor ISO RGD PMID:17002564 RGD:1625350 NCBI chr 1:107,675,138...107,681,246
Ensembl chr 1:107,675,477...107,681,204
JBrowse link
G DSPP dentin sialophosphoprotein ISO protein:decreased expression:incisor dental pulp (rat) RGD PMID:23974864 RGD:12911019 NCBI chr32:11,017,440...11,022,780 JBrowse link
G ENO1 enolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 5:62,300,805...62,314,508
Ensembl chr 5:62,300,808...62,304,093
JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO RGD PMID:23281008 RGD:10045609 NCBI chr 1:110,130,353...110,146,660
Ensembl chr 1:110,130,481...110,146,602
JBrowse link
G ESR1 estrogen receptor 1 no_association
treatment
ISO DNA:SNP, haplotype:intron:g.938C>T (human)
DNA:repeat:5' utr:g.-1174(TA)10-27 (human)
DNA:repeat:intron:IVS5+225(CA)18-25 (human)
DNA:SNP:exon:2014G>A (human)
DNA:SNP:intron:397T>C (human)
DNA:SNPs:intron: (rs2234693, rs9340799) (human)
RGD PMID:10773580 PMID:16530497 PMID:16955786 PMID:17896124 PMID:17953702 PMID:20116372 PMID:21421090 PMID:23137636 RGD:10045665 RGD:10045825 RGD:10045826 RGD:10045828 RGD:10045834 RGD:10045839 RGD:10045841 RGD:8694129 NCBI chr 1:42,081,952...42,368,544
Ensembl chr 1:42,081,969...42,368,544
JBrowse link
G ESR2 estrogen receptor 2 susceptibility
treatment
ISO DNA:repeat:3' utr: g.dupCA (human)
DNA:SNP, haplotype:3'utr:*39A>G (human)
DNA:SNP, haplotypes: :-1213T>C (human)
RGD PMID:16530497 PMID:16777502 PMID:16955786 PMID:21421090 PMID:22948905 RGD:10045825 RGD:10045841 RGD:1626507 RGD:7364765 RGD:8694129 NCBI chr 8:38,645,917...38,715,347
Ensembl chr 8:38,645,430...38,702,691
JBrowse link
G ESRRA estrogen related receptor alpha ISO RGD PMID:19936213 RGD:10401868 NCBI chr18:52,755,547...52,762,938
Ensembl chr18:52,756,344...52,763,355
JBrowse link
G FGA fibrinogen alpha chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr15:52,238,305...52,247,017
Ensembl chr15:52,236,198...52,246,975
JBrowse link
G FGB fibrinogen beta chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr15:52,220,690...52,228,526
Ensembl chr15:52,220,611...52,228,250
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:122,217,317...122,231,862
Ensembl chr  X:122,205,683...122,231,678
JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr27:38,468,889...38,472,653
Ensembl chr27:38,468,889...38,472,385
JBrowse link
G GHR growth hormone receptor treatment ISO associated with Cholestasis
associated with Uremia;protein:altered expression:osteoblast, osteoclast, chondroblast
RGD PMID:17647196 PMID:19424739 RGD:10003128 RGD:10003131 NCBI chr 4:67,021,821...67,245,499
Ensembl chr 4:67,022,252...67,290,473
JBrowse link
G GORAB golgin, RAB6 interacting ISO CTD Direct Evidence: marker/mechanism CTD PMID:18997784 NCBI chr 7:28,220,679...28,241,035
Ensembl chr 7:28,221,064...28,241,012
JBrowse link
G GPC6 glypican 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28869591 NCBI chr22:44,154,690...45,237,398
Ensembl chr22:44,154,944...45,233,549
JBrowse link
G GPD2 glycerol-3-phosphate dehydrogenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr36:2,678,749...2,780,173
Ensembl chr36:2,681,188...2,777,535
JBrowse link
G GPX1 glutathione peroxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260
JBrowse link
G GSN gelsolin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr11:74,248,227...74,268,129
Ensembl chr11:74,233,457...74,268,129
JBrowse link
G GSR glutathione-disulfide reductase ISO protein:decreased expression:blood RGD PMID:19464221 RGD:10401828 NCBI chr16:33,633,949...33,680,411
Ensembl chr16:33,633,968...33,679,752
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 chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182
JBrowse link
G HFE homeostatic iron regulator ISO associated with hemochromatosis RGD PMID:26829642 RGD:14746963 NCBI chr35:24,031,479...24,038,922
Ensembl chr35:24,031,387...24,042,413
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:87,342,800...87,641,224
Ensembl chr  X:87,342,792...87,638,579
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 3:53,070,462...53,077,566
Ensembl chr 3:53,070,695...53,087,496
JBrowse link
G IGF1 insulin like growth factor 1 treatment ISO associated with Diabetes Mellitus, Experimental
associated with Uremia;protein:altered expression:osteoblast, osteoclast, chondroblast
associated with Cholestasis
RGD PMID:1466160 PMID:10499542 PMID:17647196 PMID:19424739 RGD:10003127 RGD:10003128 RGD:10003131 RGD:10003132 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794
JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO RGD PMID:18079194 RGD:10045888 NCBI chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387
JBrowse link
G IGF2 insulin like growth factor 2 treatment ISO RGD PMID:12162999 RGD:10402555 NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO protein:decreased expression:serum RGD PMID:9284698 RGD:10402579 NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392
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:87,747,373...87,776,797
Ensembl chr  X:87,747,373...87,776,798
JBrowse link
G IL1A interleukin 1 alpha ISO associated with Arthritis, Rheumatoid RGD PMID:10555884 RGD:6907107 NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435
JBrowse link
G IL1B interleukin 1 beta ISO RGD PMID:22997530 RGD:7204491 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G IL1RN interleukin 1 receptor antagonist treatment ISO human protein in a rat model RGD PMID:8182127 RGD:8551834 NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329
JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15995586 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G IL6R interleukin 6 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15995586 NCBI chr 7:42,877,731...42,920,149
Ensembl chr 7:42,880,885...42,920,090
JBrowse link
G IRS1 insulin receptor substrate 1 ISO mRNA, protein:decreased expression:multiple RGD PMID:22820932 RGD:7207063 NCBI chr25:39,624,554...39,687,991 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 chr22:58,197,016...58,229,026
Ensembl chr22:58,223,387...58,227,535
JBrowse link
G KL klotho ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:9363890 RGD:10403047 NCBI chr25:7,154,359...7,201,744
Ensembl chr25:7,156,620...7,199,558
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:11459801 PMID:12609558 PMID:21376149 PMID:24250662 RGD:10053572 RGD:10053615 RGD:10053630 RGD:5128771 NCBI chr14:8,115,396...8,130,946
Ensembl chr14:8,116,122...8,131,395
JBrowse link
G LEPR leptin receptor susceptibility ISO DNA:polymorphisms:cds:p.K109R,Q223R(human) RGD PMID:23460508 RGD:10411886 NCBI chr 5:44,684,118...44,775,626
Ensembl chr 5:44,688,109...44,775,636
JBrowse link
G LGR4 leucine rich repeat containing G protein-coupled receptor 4 susceptibility ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 17
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:23644456 NCBI chr21:47,952,019...47,995,530
Ensembl chr21:47,952,890...47,996,288
JBrowse link
G LOC106557476 tubulin alpha-1A chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr27:5,407,906...5,412,265
Ensembl chr27:5,407,906...5,463,809
JBrowse link
G LOC480777 UDP-glucuronosyltransferase 2A1 ISO OMIM NCBI chr13:58,911,301...58,932,594
Ensembl chr13:59,138,348...59,222,802
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:87,865,007...87,968,658
Ensembl chr  X:87,866,969...87,968,883
JBrowse link
G LRP5 LDL receptor related protein 5 treatment ISO OMIM
RGD
PMID:21977807 PMID:22704852 RGD:12793063 RGD:7240519 NCBI chr18:49,439,494...49,555,375
Ensembl chr18:49,439,483...49,516,396
JBrowse link
G LTF lactotransferrin ISO CTD Direct Evidence: therapeutic CTD PMID:16648989 PMID:16936800 NCBI chr20:42,231,994...42,263,202
Ensembl chr20:42,231,994...42,263,202
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:88,041,381...88,063,726
Ensembl chr  X:88,041,376...88,063,708
JBrowse link
G MAPK14 mitogen-activated protein kinase 14 treatment ISO RGD PMID:18442314 RGD:10045965 NCBI chr12:5,145,647...5,221,558
Ensembl chr12:5,146,037...5,220,603
JBrowse link
G MGLL monoglyceride lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr20:1,765,650...1,880,710
Ensembl chr20:1,766,216...1,943,588
JBrowse link
G MIR152 microRNA mir-152 ISO miRNA:increased expression:femur RGD PMID:31492082 RGD:21066345 NCBI chr 9:24,335,161...24,335,219
Ensembl chr 9:24,335,146...24,335,225
JBrowse link
G MIR448 microRNA mir-448 ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 ClinVar PMID:24088041 PMID:26633545 NCBI chr  X:87,558,063...87,558,172
Ensembl chr  X:87,558,063...87,558,172
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO associated with osteoporosis; protein:increased expression:serum RGD PMID:19411568 RGD:5129553 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO RGD PMID:22704852 RGD:7240519 NCBI chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309
JBrowse link
G NOG noggin ISO RGD PMID:12975477 RGD:10414323 NCBI chr 9:31,453,604...31,456,060 JBrowse link
G NRIP1 nuclear receptor interacting protein 1 ISO DNA:silent mutation, haplotype:p.G75G (human) RGD PMID:16530497 RGD:10045825 NCBI chr31:11,852,330...11,951,735
Ensembl chr31:11,855,338...11,932,056
JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Osteoporosis ClinVar PMID:25741868 NCBI chr23:52,068,123...52,154,410
Ensembl chr23:52,068,118...52,151,593
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 4:67,709,846...67,841,737
Ensembl chr 4:67,527,531...67,841,518
JBrowse link
G P4HB prolyl 4-hydroxylase subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 9:427,827...436,880
Ensembl chr 9:427,830...436,064
JBrowse link
G PARK7 Parkinsonism associated deglycase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 5:61,576,219...61,592,325
Ensembl chr 5:61,576,069...61,592,303
JBrowse link
G PCNA proliferating cell nuclear antigen ISO protein:increased expression:osteoblast: RGD PMID:22550338 RGD:10045656 NCBI chr24:16,478,774...16,485,992
Ensembl chr24:16,478,769...16,484,992
JBrowse link
G PDLIM4 PDZ and LIM domain 4 ISO OMIM NCBI chr11:20,570,839...20,587,185
Ensembl chr11:20,570,833...20,585,594
JBrowse link
G PGLS 6-phosphogluconolactonase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr20:45,293,970...45,301,074
Ensembl chr20:45,294,008...45,301,038
JBrowse link
G PKM pyruvate kinase M1/2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr30:35,712,853...35,737,643 JBrowse link
G PLEK pleckstrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr10:67,395,972...67,421,247
Ensembl chr10:67,395,972...67,421,247
JBrowse link
G PLS3 plastin 3 ISO OMIM NCBI chr  X:88,308,817...88,399,682
Ensembl chr  X:88,308,888...88,398,810
JBrowse link
G PNP purine nucleoside phosphorylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr15:17,808,454...17,815,987
Ensembl chr15:17,808,461...17,815,676
JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:3017235 PMID:4367732 PMID:6143199 PMID:6254450 PMID:19153526 NCBI chr17:19,431,396...19,438,247
Ensembl chr17:19,431,585...19,434,440
JBrowse link
G PRDX3 peroxiredoxin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr28:29,395,593...29,403,745
Ensembl chr28:29,395,581...29,403,745
JBrowse link
G PSMA2 proteasome 20S subunit alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr18:7,218,150...7,228,859
Ensembl chr18:7,218,080...7,228,816
JBrowse link
G PSMA5 proteasome 20S subunit alpha 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 6:42,425,590...42,450,074
Ensembl chr 6:42,425,624...42,449,925
JBrowse link
G PTGER4 prostaglandin E receptor 4 treatment ISO RGD PMID:16442794 RGD:10043381 NCBI chr 4:68,663,362...68,676,241
Ensembl chr 4:68,663,364...68,676,358
JBrowse link
G PTH parathyroid hormone treatment ISO protein:decreased expression:serum (rat)
CTD Direct Evidence: therapeutic
RGD
CTD
PMID:15710971 PMID:17317460 PMID:17882678 PMID:19578808 PMID:21306167 PMID:22312238 PMID:23161222 PMID:30639440 RGD:7242793 RGD:7242907 NCBI chr21:36,417,062...36,419,967
Ensembl chr21:36,417,058...36,419,967
JBrowse link
G RAB7B RAB7B, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr38:2,333,939...2,359,531
Ensembl chr38:2,335,535...2,359,469
JBrowse link
G REN renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18847324 NCBI chr38:744,540...766,998
Ensembl chr38:744,614...755,012
JBrowse link
G RSU1 Ras suppressor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 2:20,050,029...20,299,179
Ensembl chr 2:20,050,117...20,299,184
JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Osteoporosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493
JBrowse link
G SIRT1 sirtuin 1 treatment ISO RGD PMID:22555620 PMID:25377437 RGD:10047129 RGD:10053568 NCBI chr 4:19,188,616...19,220,031
Ensembl chr 4:19,188,675...19,218,279
JBrowse link
G SOD2 superoxide dismutase 2 susceptibility
no_association
ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs:intron, exon:g.31A>G, g.327C>T (p.A16V) (rs5746094, rs4880) (human)
DNA:SNPs:5' utr, exon, intron:multiple
CTD
RGD
PMID:18924182 PMID:26336112 RGD:11035299 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
JBrowse link
G TLN1 talin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr11:52,227,286...52,260,112
Ensembl chr11:52,227,611...52,259,915
JBrowse link
G TNFRSF11A TNF receptor superfamily member 11a ISO RGD PMID:17002564 RGD:1625350 NCBI chr 1:14,504,595...14,555,956
Ensembl chr 1:14,503,033...14,556,041
JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b ISO CTD Direct Evidence: marker/mechanism CTD PMID:17667143 NCBI chr13:18,155,765...18,183,263
Ensembl chr13:18,156,367...18,183,444
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO RGD PMID:17002564 RGD:1625350 NCBI chr 2:84,140,179...84,151,219
Ensembl chr 2:84,141,911...84,157,191
JBrowse link
G TNFSF11 TNF superfamily member 11 ISO CTD Direct Evidence: therapeutic CTD
RGD
PMID:17002564 PMID:17882678 RGD:1625350 NCBI chr22:8,226,931...8,257,926
Ensembl chr22:8,227,555...8,258,645
JBrowse link
G TPI1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr27:38,154,519...38,157,900
Ensembl chr27:38,154,519...38,158,137
JBrowse link
G TPM4 tropomyosin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr20:46,354,808...46,376,489
Ensembl chr20:46,355,736...46,376,425
JBrowse link
G TUBA1C tubulin alpha 1c ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr27:5,333,706...5,340,363 JBrowse link
G U2AF1 U2 small nuclear RNA auxiliary factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr31:37,263,265...37,276,710 JBrowse link
G VCL vinculin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 4:24,404,279...24,518,977
Ensembl chr 4:24,404,319...24,518,633
JBrowse link
G VDR vitamin D receptor no_association ISO associated with Cystic Fibrosis RGD PMID:16713399 RGD:4889871 NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470
JBrowse link
G WDR1 WD repeat domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 3:69,305,731...69,348,183
Ensembl chr 3:69,305,731...69,348,177
JBrowse link
G WNT1 Wnt family member 1 susceptibility ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 16
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:23499309 PMID:23656646 NCBI chr27:5,588,151...5,592,254
Ensembl chr27:5,574,940...5,592,060
JBrowse link
G ZDHHC13 zinc finger DHHC-type palmitoyltransferase 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20548961 NCBI chr21:41,243,214...41,292,458
Ensembl chr21:41,243,294...41,291,995
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 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 chr 4:35,950,642...35,968,137
Ensembl chr 4:35,950,695...35,998,025
JBrowse link
G SLC34A1 solute carrier family 34 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 chr 4:35,961,394...35,973,733
Ensembl chr 4:35,961,958...35,973,657
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 chr 4:35,950,642...35,968,137
Ensembl chr 4:35,950,695...35,998,025
JBrowse link
G SLC34A1 solute carrier family 34 member 1 ISO OMIM NCBI chr 4:35,961,394...35,973,733
Ensembl chr 4:35,961,958...35,973,657
JBrowse link
hypophosphatemic nephrolithiasis/osteoporosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC9A3R1 SLC9A3 regulator 1 ISO OMIM NCBI chr 9:5,661,792...5,679,783
Ensembl chr 9:5,662,464...5,679,570
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 chr18:49,439,494...49,555,375
Ensembl chr18:49,439,483...49,516,396
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 chr20:49,812,444...49,816,262
Ensembl chr20:49,814,032...49,816,260
JBrowse link
G AR androgen receptor ISO RGD PMID:12593895 RGD:1578682 NCBI chr24:34,713,390...34,731,461
NCBI chr  X:51,969,785...52,167,450
Ensembl chr  X:51,969,785...52,151,912
JBrowse link
G B9D2 B9 domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10750555 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
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:43,765,126...43,771,277
Ensembl chr  X:43,764,777...43,771,287
JBrowse link
G CAT catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17227729 NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447
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 chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
JBrowse link
G COL1A2 collagen type I alpha 2 chain 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 chr14:19,883,731...19,919,527
Ensembl chr14:19,883,868...19,919,527
JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO DNA:snps:exon:multiple (human) RGD PMID:17118999 RGD:1600860 NCBI chr30:16,954,020...17,056,728
Ensembl chr30:16,957,215...16,988,353
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:10045838 RGD:8158082 NCBI chr 1:42,081,952...42,368,544
Ensembl chr 1:42,081,969...42,368,544
JBrowse link
G ESR2 estrogen receptor 2 susceptibility ISO DNA:SNP: :-1213T>C (human)
DNA:SNP, haplotype:3'utr:*39A>G (human)
DNA:repeat:intron:IVS5-3919(CA)18-26 (human)
RGD PMID:16777502 PMID:17945165 PMID:22335445 RGD:10045847 RGD:10045849 RGD:1626507 NCBI chr 8:38,645,917...38,715,347
Ensembl chr 8:38,645,430...38,702,691
JBrowse link
G FDPS farnesyl diphosphate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:31774873 NCBI chr 7:42,241,086...42,250,373
Ensembl chr 7:42,241,107...42,250,225
JBrowse link
G FGF23 fibroblast growth factor 23 ISO protein:increased expression: : RGD PMID:24101107 RGD:10044241 NCBI chr27:40,501,655...40,511,785
Ensembl chr27:40,501,731...40,509,766
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha treatment ISO RGD PMID:18067744 PMID:24023068 RGD:10402191 RGD:10402540 NCBI chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692
JBrowse link
G IGF1 insulin like growth factor 1 ISO protein:decreased expression:serum: RGD PMID:11063288 RGD:10045861 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794
JBrowse link
G IGF2 insulin like growth factor 2 treatment ISO RGD PMID:16753016 RGD:10402556 NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982
JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032749 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032749 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G IL7 interleukin 7 treatment ISO RGD PMID:23662133 RGD:10402930 NCBI chr29:26,384,493...26,422,586
Ensembl chr29:26,384,493...26,422,737
JBrowse link
G LRP5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Postmenopausal osteoporosis ClinVar PMID:25741868 PMID:28492532 NCBI chr18:49,439,494...49,555,375
Ensembl chr18:49,439,483...49,516,396
JBrowse link
G NRIP1 nuclear receptor interacting protein 1 susceptibility ISO DNA:silent mutation:cds:p.G75G (human) RGD PMID:22335445 RGD:10045849 NCBI chr31:11,852,330...11,951,735
Ensembl chr31:11,855,338...11,932,056
JBrowse link
G PTGER4 prostaglandin E receptor 4 treatment ISO RGD PMID:11917107 RGD:10003045 NCBI chr 4:68,663,362...68,676,241
Ensembl chr 4:68,663,364...68,676,358
JBrowse link
G PTH parathyroid hormone ISO CTD Direct Evidence: therapeutic CTD PMID:20567999 NCBI chr21:36,417,062...36,419,967
Ensembl chr21:36,417,058...36,419,967
JBrowse link
G PTK2B protein tyrosine kinase 2 beta ISO RGD PMID:17537919 RGD:1642610 NCBI chr25:30,137,546...30,264,221
Ensembl chr25:30,138,209...30,264,133
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032749 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G VDR vitamin D receptor treatment ISO DNA:SNP:exon: (rs2228570) (human)
ClinVar Annotator: match by term: Postmenopausal osteoporosis
RGD
ClinVar
PMID:16604479 PMID:25741868 RGD:8158082 NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470
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 chr36:7,668,925...7,727,040
Ensembl chr36:7,649,727...8,261,048
JBrowse link
Singleton-Merten Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFIH1 interferon induced with helicase C domain 1 ISO OMIM NCBI chr36:7,668,925...7,727,040
Ensembl chr36:7,649,727...8,261,048
JBrowse link
Singleton-Merten Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DDX58 DExD/H-box helicase 58 ISO OMIM NCBI chr11:49,764,252...49,799,626
Ensembl chr11:49,764,267...49,799,527
JBrowse link
Winchester syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MMP14 matrix metallopeptidase 14 ISO OMIM NCBI chr 8:3,183,419...3,193,079
Ensembl chr 8:3,183,606...3,194,122
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13588
    Diseases of the Aged 1039
      osteoporosis 134
        Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 0
        Diabetic Bone Disease 0
        Female Athlete Triad Syndrome 0
        Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 0
        Hernandez Fragoso Syndrome 0
        Infantile Multisystem Neurologic Disease with Osseous Fragility 0
        Macroepiphyseal Dysplasia, McAlister Coe Type 0
        Postmenopausal Osteoporosis 25
        Prader-Willi Habitus, Osteopenia, and Camptodactyly 0
        Premature Aging, Okamoto Type 0
        Singleton Merten Syndrome + 2
        Winchester syndrome 1
        glucocorticoid-induced osteoporosis 0
        hypophosphatemic nephrolithiasis/osteoporosis + 3
        idiopathic juvenile osteoporosis 1
Path 2
Term Annotations click to browse term
  disease 13588
    disease of anatomical entity 13248
      Skin and Connective Tissue Diseases 4967
        connective tissue disease 3848
          bone disease 2591
            bone remodeling disease 227
              bone resorption disease 158
                osteoporosis 134
                  Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 0
                  Diabetic Bone Disease 0
                  Female Athlete Triad Syndrome 0
                  Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 0
                  Hernandez Fragoso Syndrome 0
                  Infantile Multisystem Neurologic Disease with Osseous Fragility 0
                  Macroepiphyseal Dysplasia, McAlister Coe Type 0
                  Postmenopausal Osteoporosis 25
                  Prader-Willi Habitus, Osteopenia, and Camptodactyly 0
                  Premature Aging, Okamoto Type 0
                  Singleton Merten Syndrome + 2
                  Winchester syndrome 1
                  glucocorticoid-induced osteoporosis 0
                  hypophosphatemic nephrolithiasis/osteoporosis + 3
                  idiopathic juvenile osteoporosis 1
paths to the root