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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
 narrow_synonym: LRP5-RELATED PRIMARY OSTEOPOROSIS
 broad_synonym: WNT1-RELATED CONDITION
 related_synonym: FRACTURE, HIP, SUSCEPTIBILITY TO;   OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO;   OSTEOPOROSIS, SUSCEPTIBILITY TO
 primary_id: MESH:D010024
 alt_id: OMIM:166710
 xref: EFO:0003882;   ICD10CM:M81.0;   ICD9CM:733.0;   NCI:C3298
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 2:31,578,256...31,697,105
Ensembl chr 2:31,578,388...31,694,239 		JBrowse link
G Ace angiotensin I converting enzyme ISO associated with Hypertension RGD PMID:19590507 RGD:2325225 NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790 		JBrowse link
G Actg1 actin, gamma, cytoplasmic 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr11:120,236,513...120,239,321
Ensembl chr11:120,236,516...120,239,368 		JBrowse link
G Adcy5 adenylate cyclase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18029912 NCBI chr16:34,974,933...35,126,108
Ensembl chr16:34,975,247...35,126,108 		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 chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910 		JBrowse link
G Alpl alkaline phosphatase, liver/bone/kidney ISO ClinVar Annotator: match by term: Osteoporosis ClinVar PMID:3174660 PMID:10679946 PMID:19500388 PMID:25741868 PMID:28492532 More... NCBI chr 4:137,469,042...137,523,695
Ensembl chr 4:137,469,044...137,523,695 		JBrowse link
G Antxr2 anthrax toxin receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12973667 NCBI chr 5:98,032,547...98,178,876
Ensembl chr 5:98,030,642...98,178,902 		JBrowse link
G Anxa2 annexin A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 9:69,360,978...69,399,074
Ensembl chr 9:69,360,902...69,399,077 		JBrowse link
G Ar androgen receptor treatment ISO
IDA		 RGD PMID:14600402 PMID:18847323 RGD:10043196, RGD:10043198 NCBI chr  X:97,192,363...97,366,824
Ensembl chr  X:97,192,375...97,366,821 		JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 1:71,596,315...71,618,562
Ensembl chr 1:71,596,309...71,618,790 		JBrowse link
G Atm ataxia telangiectasia mutated IMP RGD PMID:16644862 RGD:10047420 NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040 		JBrowse link
G Atp4b ATPase, H+/K+ exchanging, beta polypeptide treatment IMP RGD PMID:26869358 RGD:14696735 NCBI chr 8:13,436,209...13,446,778
Ensembl chr 8:13,436,205...13,446,825 		JBrowse link
G Bax BCL2-associated X protein treatment ISO RGD PMID:22648569 RGD:10054093 NCBI chr 7:45,111,124...45,116,332
Ensembl chr 7:45,111,121...45,116,322 		JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 treatment ISO RGD PMID:22648569 RGD:10054093 NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004 		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 3:88,290,802...88,291,773
Ensembl chr 3:88,290,808...88,291,771 		JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO RGD PMID:17002564 RGD:1625350 NCBI chr 2:133,394,079...133,404,816
Ensembl chr 2:133,394,079...133,404,805 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36453845 NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126 		JBrowse link
G Calca calcitonin/calcitonin-related polypeptide, alpha ISO RGD PMID:2502220 RGD:734677 NCBI chr 7:114,225,223...114,236,145
Ensembl chr 7:114,230,713...114,235,592 		JBrowse link
G Calcr calcitonin receptor susceptibility ISO DNA:SNP:cds:g.1340T>C (human)
CTD Direct Evidence: marker/mechanism		 CTD
OMIM
RGD		 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 cyclase associated actin cytoskeleton regulatory protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 4:122,752,841...122,779,869
Ensembl chr 4:122,752,840...122,779,849 		JBrowse link
G Car2 carbonic anhydrase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 3:14,951,329...14,965,830
Ensembl chr 3:14,951,333...14,965,830 		JBrowse link
G Cct2 chaperonin containing TCP1 subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr10:116,886,902...116,899,757
Ensembl chr10:116,886,906...116,899,719 		JBrowse link
G Ciita class II transactivator IAGP OMIM:166710 MouseDO NCBI chr16:10,297,877...10,348,928
Ensembl chr16:10,297,923...10,346,282 		JBrowse link
G Clec11a C-type lectin domain family 11, member a ISO CTD Direct Evidence: marker/mechanism CTD PMID:27976999 NCBI chr 7:43,953,190...43,956,383
Ensembl chr 7:43,952,111...43,956,326 		JBrowse link
G Col1a1 collagen, type I, alpha 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL | ClinVar Annotator: match by term: Osteoporosis
ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 | 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
CTD
ClinVar
RGD		 PMID:2037280 PMID:2542316 PMID:7695699 PMID:7942841 PMID:8218237 More... RGD:11041180, RGD:10045665 NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868 		JBrowse link
G Col1a2 collagen, type I, alpha 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL | ClinVar Annotator: match by term: Osteoporosis		 OMIM
CTD
ClinVar		 PMID:1978725 PMID:2985635 PMID:7695699 PMID:7860070 PMID:8094076 More... 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 3:95,406,521...95,416,698
Ensembl chr 3:95,406,567...95,416,673 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 ISO RGD PMID:29882473 RGD:14700776 NCBI chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030 		JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO DNA:snps:multiple (human) RGD PMID:17002564 RGD:1625350 NCBI chr19:46,655,604...46,661,439
Ensembl chr19:46,655,604...46,661,611 		JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO DNA:snps:multiple (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20723554 PMID:17002564 RGD:1625350 NCBI chr 9:54,073,221...54,175,448
Ensembl chr 9:54,073,221...54,175,394 		JBrowse link
G Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22337913 NCBI chr 2:170,324,877...170,339,065
Ensembl chr 2:170,324,628...170,339,065 		JBrowse link
G Daam2 dishevelled associated activator of morphogenesis 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30598549 NCBI chr17:49,763,050...49,871,517
Ensembl chr17:49,763,050...49,871,371 		JBrowse link
G Dbp D site albumin promoter binding protein ISO RGD PMID:17002564 RGD:1625350 NCBI chr 7:45,354,658...45,359,579
Ensembl chr 7:45,354,512...45,359,627 		JBrowse link
G Dspp dentin sialophosphoprotein ISO protein:decreased expression:incisor dental pulp (rat) RGD PMID:23974864 RGD:12911019 NCBI chr 5:104,318,569...104,327,993
Ensembl chr 5:104,318,578...104,327,993 		JBrowse link
G Eno1 enolase 1, alpha non-neuron ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 4:150,321,165...150,333,336
Ensembl chr 4:150,321,178...150,333,336 		JBrowse link
G Ercc1 excision repair cross-complementing rodent repair deficiency, complementation group 1 IMP RGD PMID:23281008 RGD:10045609 NCBI chr 7:19,079,016...19,090,449
Ensembl chr 7:19,078,703...19,090,449 		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 More... RGD:10045665, RGD:10045841, RGD:10045839, RGD:10045839, RGD:10045834, RGD:8694129, RGD:10045828, RGD:10045826, RGD:10045825 NCBI chr10:4,561,989...4,955,633
Ensembl chr10:4,561,593...4,955,614 		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 chr12:76,167,193...76,224,033
Ensembl chr12:76,167,193...76,224,033 		JBrowse link
G Esrra estrogen related receptor, alpha IMP RGD PMID:19936213 RGD:10401868 NCBI chr19:6,888,345...6,899,182
Ensembl chr19:6,888,345...6,899,208 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Osteoporosis ClinVar PMID:25741868 NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913 		JBrowse link
G Fga fibrinogen alpha chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 3:82,933,460...82,940,934
Ensembl chr 3:82,933,383...82,940,934 		JBrowse link
G Fgb fibrinogen beta chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 3:82,949,553...82,957,170
Ensembl chr 3:82,947,448...82,957,170 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 6:125,138,812...125,143,450
Ensembl chr 6:125,138,678...125,143,430 		JBrowse link
G Gh growth hormone ISO associated with Diabetes Mellitus, Experimental RGD PMID:1466160 RGD:10003132 NCBI chr11:106,191,087...106,194,529
Ensembl chr11:106,191,097...106,192,691 		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 chr15:3,347,237...3,612,834
Ensembl chr15:3,347,242...3,612,974 		JBrowse link
G Golm1 golgi membrane protein 1 treatment IMP
ISO		 protein:increased expression:serum RGD PMID:30396165 PMID:30396165 RGD:401827113, RGD:401827113 NCBI chr13:59,782,810...59,823,598
Ensembl chr13:59,782,440...59,823,625 		JBrowse link
G Gorab golgin, RAB6-interacting ISO CTD Direct Evidence: marker/mechanism CTD PMID:18997784 NCBI chr 1:163,212,472...163,231,238
Ensembl chr 1:163,212,477...163,231,238 		JBrowse link
G Gpc6 glypican 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28869591 NCBI chr14:117,162,332...118,216,941
Ensembl chr14:117,162,727...118,213,956 		JBrowse link
G Gpd2 glycerol phosphate dehydrogenase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 2:57,127,690...57,260,731
Ensembl chr 2:57,127,647...57,260,731 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542 		JBrowse link
G Gsn gelsolin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 2:35,146,371...35,197,914
Ensembl chr 2:35,146,392...35,197,904 		JBrowse link
G Gsr glutathione reductase ISO protein:decreased expression:blood RGD PMID:19464221 RGD:10401828 NCBI chr 8:34,143,266...34,188,190
Ensembl chr 8:34,142,551...34,188,191 		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 chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985 		JBrowse link
G Hfe homeostatic iron regulator IMP associated with hemochromatosis RGD PMID:26829642 RGD:14746963 NCBI chr13:23,886,017...23,894,837
Ensembl chr13:23,886,017...23,894,837 		JBrowse link
G Id4 inhibitor of DNA binding 4 IAGP OMIM:166710 MouseDO NCBI chr13:48,414,592...48,419,504
Ensembl chr13:48,414,704...48,419,502 		JBrowse link
G Idh2 isocitrate dehydrogenase 2 (NADP+), mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 7:79,744,594...79,768,356
Ensembl chr 7:79,744,594...79,765,140 		JBrowse link
G Ifngr1 interferon gamma receptor 1 IAGP OMIM:166710 MouseDO NCBI chr10:19,467,697...19,485,977
Ensembl chr10:19,467,697...19,485,977 		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 chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904 		JBrowse link
G Igf1r insulin-like growth factor I receptor ISO RGD PMID:18079194 RGD:10045888 NCBI chr 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416 		JBrowse link
G Igf2 insulin-like growth factor 2 treatment ISO RGD PMID:12162999 RGD:10402555 NCBI chr 7:142,204,505...142,220,566
Ensembl chr 7:142,204,503...142,220,553 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:decreased expression:serum RGD PMID:9284698 RGD:10402579 NCBI chr11:7,156,086...7,165,498
Ensembl chr11:7,156,086...7,163,923 		JBrowse link
G Il1a interleukin 1 alpha ISO associated with Arthritis, Rheumatoid RGD PMID:10555884 RGD:6907107 NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892 		JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:22997530 RGD:7204491 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G Il1rn interleukin 1 receptor antagonist treatment ISO human protein in a rat model RGD PMID:8182127 RGD:8551834 NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15995586 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Il6ra interleukin 6 receptor, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15995586 NCBI chr 3:89,776,631...89,820,503
Ensembl chr 3:89,771,366...89,820,503 		JBrowse link
G Irak3 interleukin-1 receptor-associated kinase 3 IAGP OMIM:166710 MouseDO NCBI chr10:119,977,553...120,038,035
Ensembl chr10:119,977,553...120,038,035 		JBrowse link
G Irs1 insulin receptor substrate 1 ISO mRNA, protein:decreased expression:multiple RGD PMID:22820932 RGD:7207063 NCBI chr 1:82,210,826...82,269,160
Ensembl chr 1:82,210,822...82,269,137 		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 8:11,034,681...11,058,929
Ensembl chr 8:11,034,681...11,058,458 		JBrowse link
G Kl klotho IMP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:9363890 PMID:9363890 RGD:10403047 NCBI chr 5:150,876,072...150,917,282
Ensembl chr 5:150,876,072...150,917,282 		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 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876 		JBrowse link
G Lepr leptin receptor susceptibility ISO DNA:polymorphisms:cds:p.K109R,Q223R(human) RGD PMID:23460508 RGD:10411886 NCBI chr 4:101,574,393...101,676,375
Ensembl chr 4:101,574,601...101,672,549 		JBrowse link
G Lrp5 low density lipoprotein receptor-related protein 5 treatment ISO ClinVar Annotator: match by term: LRP5-related primary osteoporosis | ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL | ClinVar Annotator: match by term: Osteoporosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 1 | ClinVar Annotator: match by term: LRP5-related primary osteoporosis | ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL | ClinVar Annotator: match by term: Osteoporosis		 ClinVar
CTD
RGD		 PMID:9536098 PMID:11719191 PMID:11793484 PMID:12579474 PMID:14727154 More... RGD:1625350, RGD:7240519, RGD:12793063 NCBI chr19:3,634,825...3,736,574
Ensembl chr19:3,634,828...3,736,564 		JBrowse link
G Ltf lactotransferrin ISO CTD Direct Evidence: therapeutic CTD PMID:16648989 PMID:16936800 NCBI chr 9:110,848,360...110,871,834
Ensembl chr 9:110,848,339...110,871,835 		JBrowse link
G Ly6a lymphocyte antigen 6 family member A IAGP OMIM:166710 MouseDO NCBI chr15:74,866,726...74,869,880
Ensembl chr15:74,866,726...74,869,880 		JBrowse link
G Mapk14 mitogen-activated protein kinase 14 treatment ISO RGD PMID:18442314 RGD:10045965 NCBI chr17:28,910,316...28,967,379
Ensembl chr17:28,910,303...28,967,380 		JBrowse link
G Mgll monoglyceride lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 6:88,701,397...88,805,342
Ensembl chr 6:88,701,394...88,805,342 		JBrowse link
G Mir152 microRNA 152 ISO miRNA:increased expression:femur RGD PMID:31492082 RGD:21066345 NCBI chr11:96,741,219...96,741,291
Ensembl chr11:96,741,219...96,741,291 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO associated with osteoporosis; protein:increased expression:serum RGD PMID:19411568 RGD:5129553 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Myc myelocytomatosis oncogene ISO RGD PMID:22704852 RGD:7240519 NCBI chr15:61,857,190...61,862,210
Ensembl chr15:61,857,240...61,862,223 		JBrowse link
G Nog noggin IMP RGD PMID:12975477 RGD:10414323 NCBI chr11:89,191,464...89,193,385
Ensembl chr11:89,191,464...89,193,158 		JBrowse link
G Nrip1 nuclear receptor interacting protein 1 ISO DNA:silent mutation, haplotype:p.G75G (human) RGD PMID:16530497 RGD:10045825 NCBI chr16:76,084,291...76,170,930
Ensembl chr16:76,084,288...76,170,715 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Osteoporosis ClinVar PMID:25741868 NCBI chr16:29,398,099...29,481,924
Ensembl chr16:29,398,152...29,473,702 		JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr15:4,055,910...4,184,826
Ensembl chr15:4,055,865...4,184,826 		JBrowse link
G P4hb prolyl 4-hydroxylase, beta polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr11:120,451,124...120,464,079
Ensembl chr11:120,451,124...120,464,079 		JBrowse link
G Park7 Parkinson disease (autosomal recessive, early onset) 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 4:150,981,590...150,994,378
Ensembl chr 4:150,981,590...150,998,894 		JBrowse link
G Pcna proliferating cell nuclear antigen ISO protein:increased expression:osteoblast: RGD PMID:22550338 RGD:10045656 NCBI chr 2:132,091,206...132,095,100
Ensembl chr 2:132,091,082...132,095,234 		JBrowse link
G Pdlim4 PDZ and LIM domain 4 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr11:53,945,754...53,959,814
Ensembl chr11:53,945,754...53,959,840 		JBrowse link
G Pgls 6-phosphogluconolactonase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 8:72,044,828...72,048,911
Ensembl chr 8:72,044,820...72,053,736 		JBrowse link
G Pkm pyruvate kinase, muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 9:59,563,859...59,586,655
Ensembl chr 9:59,563,651...59,586,658 		JBrowse link
G Plek pleckstrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr11:16,921,206...16,958,718
Ensembl chr11:16,921,206...17,002,381 		JBrowse link
G Pls3 plastin 3 (T-isoform) IAGP OMIM:166710 MouseDO NCBI chr  X:74,829,259...74,918,788
Ensembl chr  X:74,829,260...74,918,788 		JBrowse link
G Pnp2 purine-nucleoside phosphorylase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr14:51,193,598...51,202,206
Ensembl chr14:51,193,449...51,202,206 		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 chr12:4,004,945...4,010,643
Ensembl chr12:4,004,951...4,010,642 		JBrowse link
G Prdx3 peroxiredoxin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr19:60,852,504...60,862,976
Ensembl chr19:60,852,489...60,862,994 		JBrowse link
G Psma2 proteasome subunit alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr13:14,787,827...14,800,258
Ensembl chr13:14,787,825...14,848,821 		JBrowse link
G Psma5 proteasome subunit alpha 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 3:108,164,242...108,187,268
Ensembl chr 3:108,164,242...108,187,290 		JBrowse link
G Ptger4 prostaglandin E receptor 4 (subtype EP4) treatment ISO RGD PMID:16442794 RGD:10043381 NCBI chr15:5,262,880...5,273,668
Ensembl chr15:5,236,142...5,273,668 		JBrowse link
G Pth parathyroid hormone treatment ISO CTD Direct Evidence: therapeutic
protein:decreased expression:serum (rat)		 CTD
RGD		 PMID:15710971 PMID:17317460 PMID:17882678 PMID:19578808 PMID:21306167 More... RGD:7242793, RGD:7242907 NCBI chr 7:112,984,783...112,987,879
Ensembl chr 7:112,984,787...112,987,777 		JBrowse link
G Rab7b RAB7B, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 1:131,616,412...131,646,288
Ensembl chr 1:131,616,433...131,643,177 		JBrowse link
G Ren1 renin 1 structural ISO CTD Direct Evidence: marker/mechanism CTD PMID:18847324 NCBI chr 1:133,278,412...133,288,058
Ensembl chr 1:133,278,248...133,288,063 		JBrowse link
G Rsu1 Ras suppressor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 2:13,081,778...13,276,116
Ensembl chr 2:13,081,632...13,276,226 		JBrowse link
G Ryr1 ryanodine receptor 1, skeletal muscle ISO ClinVar Annotator: match by term: Osteoporosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:28,702,765...28,824,599
Ensembl chr 7:28,702,769...28,824,604 		JBrowse link
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 ISO ClinVar Annotator: match by term: Osteoporosis ClinVar PMID:25741868 PMID:28492532 PMID:29150909 PMID:30968248 NCBI chr11:75,300,855...75,313,449
Ensembl chr11:75,300,595...75,313,527 		JBrowse link
G Sirt1 sirtuin 1 treatment ISO RGD PMID:22555620 PMID:25377437 RGD:10047129, RGD:10053568 NCBI chr10:63,154,784...63,174,814
Ensembl chr10:63,154,784...63,217,483 		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
RGD		 PMID:18924182 PMID:26336112 PMID:26336112 RGD:11035299, RGD:11035299 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950 		JBrowse link
G Terc telomerase RNA component IAGP OMIM:166710 MouseDO NCBI chr 3:96,321,753...96,322,149
Ensembl chr 3:96,321,753...96,322,149 		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
RGD		 PMID:12706579 PMID:17647196 RGD:10003128 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		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 1:105,708,443...105,777,172
Ensembl chr 1:105,708,443...105,775,709 		JBrowse link
G Tnfrsf11b tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin) ISO
IAGP		 CTD Direct Evidence: marker/mechanism
OMIM:166710		 CTD
MouseDO		 PMID:17667143 NCBI chr15:54,114,014...54,141,700
Ensembl chr15:54,114,015...54,141,880 		JBrowse link
G Tnfrsf1b tumor necrosis factor receptor superfamily, member 1b ISO RGD PMID:17002564 RGD:1625350 NCBI chr 4:144,938,938...144,973,453
Ensembl chr 4:144,940,033...144,973,440 		JBrowse link
G Tnfsf11 tumor necrosis factor (ligand) superfamily, member 11 ISO
IAGP		 OMIM:166710
CTD Direct Evidence: therapeutic		 MouseDO
CTD
RGD		 PMID:17882678 PMID:17002564 RGD:1625350 NCBI chr14:78,514,886...78,545,483
Ensembl chr14:78,514,885...78,545,483 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 6:124,787,549...124,791,121
Ensembl chr 6:124,787,549...124,791,259 		JBrowse link
G Tpm4 tropomyosin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 8:72,889,132...72,906,986
Ensembl chr 8:72,884,018...72,906,986 		JBrowse link
G Tuba1b tubulin, alpha 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr15:98,829,310...98,832,271
Ensembl chr15:98,829,306...98,832,446 		JBrowse link
G Tuba1c tubulin, alpha 1C ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr15:98,927,772...98,935,986
Ensembl chr15:98,927,772...98,935,991 		JBrowse link
G U2af1 U2 small nuclear ribonucleoprotein auxiliary factor (U2AF) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr17:31,866,055...31,878,122
Ensembl chr17:31,866,055...31,877,866 		JBrowse link
G Vcl vinculin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr14:20,979,436...21,083,744
Ensembl chr14:20,979,466...21,083,744 		JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor no_association ISO
IAGP		 associated with Cystic Fibrosis
OMIM:166710		 MouseDO
RGD		 PMID:16713399 RGD:4889871 NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511 		JBrowse link
G Wdr1 WD repeat domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 5:38,684,149...38,720,265
Ensembl chr 5:38,684,156...38,720,564 		JBrowse link
G Wnt1 wingless-type MMTV integration site family, member 1 ISO ClinVar Annotator: match by term: OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Osteoporosis
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:23499309 PMID:23656646 PMID:25741868 NCBI chr15:98,687,738...98,691,711
Ensembl chr15:98,687,738...98,691,718 		JBrowse link
G Zdhhc13 zinc finger, DHHC domain containing 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20548961 NCBI chr 7:48,438,751...48,477,188
Ensembl chr 7:48,438,751...48,477,188 		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: Nephrolithiasis/osteoporosis, hypophosphatemic ClinVar PMID:24033266 PMID:25050900 PMID:25741868 PMID:28492532 PMID:30943683 NCBI chr13:55,565,771...55,574,617
Ensembl chr13:55,565,771...55,574,606 		JBrowse link
G Slc34a1 solute carrier family 34 (sodium phosphate), member 1 ISO ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic ClinVar PMID:24033266 PMID:25050900 PMID:25741868 PMID:28492532 PMID:30943683 NCBI chr13:55,547,435...55,562,508
Ensembl chr13:55,546,000...55,563,405 		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: Hypophosphatemic nephrolithiasis/osteoporosis 1 ClinVar PMID:25050900 PMID:25741868 PMID:28492532 PMID:30943683 NCBI chr13:55,565,771...55,574,617
Ensembl chr13:55,565,771...55,574,606 		JBrowse link
G Slc34a1 solute carrier family 34 (sodium phosphate), member 1 ISO ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:12324554 PMID:14672348 PMID:16199547 PMID:16688119 More... NCBI chr13:55,547,435...55,562,508
Ensembl chr13:55,546,000...55,563,405 		JBrowse link
G Slc34a3 solute carrier family 34 (sodium phosphate), member 3 ISO ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1 ClinVar PMID:25741868 PMID:28492532 PMID:31672324 NCBI chr 2:25,118,909...25,124,282
Ensembl chr 2:25,118,910...25,124,376 		JBrowse link
hypophosphatemic nephrolithiasis/osteoporosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nherf1 NHERF family PDZ scaffold protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 2		 OMIM
CTD
ClinVar		 PMID:18784102 PMID:24033266 PMID:25326635 PMID:25741868 PMID:28492532 More... NCBI chr11:115,054,138...115,072,009
Ensembl chr11:115,054,167...115,072,007 		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 chr19:3,634,825...3,736,574
Ensembl chr19:3,634,828...3,736,564 		JBrowse link
Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Copb2 COPI coat complex subunit beta 2 ISO ClinVar Annotator: match by term: Osteoporosis, childhood- or juvenile-onset, with developmental delay OMIM
ClinVar		 PMID:25741868 PMID:34450031 NCBI chr 9:98,445,784...98,470,428
Ensembl chr 9:98,445,774...98,470,435 		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 9:22,038,023...22,047,042
Ensembl chr 9:22,038,023...22,047,007 		JBrowse link
G Ar androgen receptor ISO RGD PMID:12593895 RGD:1578682 NCBI chr  X:97,192,363...97,366,824
Ensembl chr  X:97,192,375...97,366,821 		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:6,226,108...6,232,778
Ensembl chr  X:6,226,161...6,232,775 		JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17227729 NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505 		JBrowse link
G Col1a1 collagen, type I, alpha 1 ISO ClinVar Annotator: match by term: Postmenopausal osteoporosis ClinVar PMID:2037280 PMID:2542316 PMID:7695699 PMID:7942841 PMID:8218237 More... NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868 		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 More... 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 9:54,073,221...54,175,448
Ensembl chr 9:54,073,221...54,175,394 		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 chr10:4,561,989...4,955,633
Ensembl chr10:4,561,593...4,955,614 		JBrowse link
G Esr2 estrogen receptor 2 (beta) susceptibility ISO DNA:SNP: :-1213T>C (human)
DNA:repeat:intron:IVS5-3919(CA)18-26 (human)
DNA:SNP, haplotype:3'utr:*39A>G (human)		 RGD PMID:16777502 PMID:17945165 PMID:22335445 RGD:1626507, RGD:10045847, RGD:10045849 NCBI chr12:76,167,193...76,224,033
Ensembl chr12:76,167,193...76,224,033 		JBrowse link
G Fdps farnesyl diphosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:31774873 NCBI chr 3:89,000,895...89,009,274
Ensembl chr 3:89,000,895...89,009,266 		JBrowse link
G Fgf23 fibroblast growth factor 23 ISO protein:increased expression: : RGD PMID:24101107 RGD:10044241 NCBI chr 6:127,049,865...127,059,257
Ensembl chr 6:127,049,865...127,058,371 		JBrowse link
G Hif1a hypoxia inducible factor 1, alpha subunit treatment ISO
IMP		 RGD PMID:24023068 PMID:18067744 RGD:10402191, RGD:10402540 NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304 		JBrowse link
G Ifitm5 interferon induced transmembrane protein 5 ISO ClinVar Annotator: match by term: Postmenopausal osteoporosis ClinVar PMID:22863190 PMID:22863195 PMID:23977282 PMID:25251575 PMID:25741868 More... NCBI chr 7:140,528,871...140,530,156
Ensembl chr 7:140,528,871...140,530,204 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:decreased expression:serum: RGD PMID:11063288 RGD:10045861 NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904 		JBrowse link
G Igf2 insulin-like growth factor 2 treatment ISO RGD PMID:16753016 RGD:10402556 NCBI chr 7:142,204,505...142,220,566
Ensembl chr 7:142,204,503...142,220,553 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032749 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032749 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Il7 interleukin 7 treatment IEP RGD PMID:23662133 RGD:10402930 NCBI chr 3:7,637,088...7,678,820
Ensembl chr 3:7,635,054...7,678,820 		JBrowse link
G Lrp5 low density lipoprotein receptor-related protein 5 ISO ClinVar Annotator: match by term: Postmenopausal osteoporosis ClinVar PMID:24715757 PMID:25741868 PMID:28492532 NCBI chr19:3,634,825...3,736,574
Ensembl chr19:3,634,828...3,736,564 		JBrowse link
G Nfatc1 nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 1 treatment ISO RGD PMID:31399090 RGD:329328926 NCBI chr18:80,649,418...80,756,286
Ensembl chr18:80,649,420...80,756,286 		JBrowse link
G Nrip1 nuclear receptor interacting protein 1 susceptibility ISO DNA:silent mutation:cds:p.G75G (human) RGD PMID:22335445 RGD:10045849 NCBI chr16:76,084,291...76,170,930
Ensembl chr16:76,084,288...76,170,715 		JBrowse link
G Pgghg protein glucosylgalactosylhydroxylysine glucosidase ISO ClinVar Annotator: match by term: Postmenopausal osteoporosis ClinVar PMID:22863190 PMID:22863195 PMID:23977282 PMID:25251575 PMID:25741868 More... NCBI chr 7:140,521,304...140,527,577
Ensembl chr 7:140,521,304...140,527,577 		JBrowse link
G Pls3 plastin 3 (T-isoform) ISO ClinVar Annotator: match by term: Postmenopausal osteoporosis ClinVar PMID:25741868 NCBI chr  X:74,829,259...74,918,788
Ensembl chr  X:74,829,260...74,918,788 		JBrowse link
G Ptger4 prostaglandin E receptor 4 (subtype EP4) treatment ISO RGD PMID:11917107 RGD:10003045 NCBI chr15:5,262,880...5,273,668
Ensembl chr15:5,236,142...5,273,668 		JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: therapeutic CTD PMID:20567999 NCBI chr 7:112,984,783...112,987,879
Ensembl chr 7:112,984,787...112,987,777 		JBrowse link
G Ptk2b PTK2 protein tyrosine kinase 2 beta ISO RGD PMID:17537919 RGD:1642610 NCBI chr14:66,390,706...66,518,549
Ensembl chr14:66,390,706...66,518,501 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10750555 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032749 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor treatment ISO DNA:SNP:exon: (rs2228570) (human) GAD
RGD		 PMID:15118671 PMID:16604479 RGD:1331525, RGD:8158082 NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511 		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 2:62,426,137...62,476,599
Ensembl chr 2:62,426,142...62,476,599 		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:16199547 PMID:17576681 PMID:21070929 PMID:24686847 More... NCBI chr 2:62,426,137...62,476,599
Ensembl chr 2:62,426,142...62,476,599 		JBrowse link
Singleton-Merten Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rigi RNA sensor RIG-I ISO ClinVar Annotator: match by term: Singleton-Merten syndrome 2 OMIM
ClinVar		 PMID:25620203 PMID:25741868 PMID:28180316 PMID:28492532 NCBI chr 4:40,203,775...40,239,843
Ensembl chr 4:40,203,773...40,239,828 		JBrowse link
Winchester syndrome 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: Winchester-Grossman syndrome ClinVar NCBI chr 8:93,581,948...93,645,907
Ensembl chr 8:93,581,967...93,645,907 		JBrowse link
G Mmp14 matrix metallopeptidase 14 (membrane-inserted) ISO ClinVar Annotator: match by term: Winchester syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4238825 PMID:17480005 PMID:22922033 PMID:25741868 PMID:29741626 NCBI chr14:54,669,055...54,679,913
Ensembl chr14:54,669,069...54,682,821 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO ClinVar Annotator: match by term: Winchester-Grossman syndrome ClinVar PMID:2625626 PMID:6525336 PMID:9536098 PMID:10356396 PMID:11431697 More... NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18302
    Diseases of the Aged 1283
      osteoporosis 145
        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
        Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay 1
        Postmenopausal Osteoporosis 29
        Prader-Willi Habitus, Osteopenia, and Camptodactyly 0
        Premature Aging, Okamoto Type 0
        Singleton Merten Syndrome + 2
        Winchester syndrome 3
        glucocorticoid-induced osteoporosis 0
        hypophosphatemic nephrolithiasis/osteoporosis + 4
        idiopathic juvenile osteoporosis 1
Path 2
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  disease 18302
    disease of anatomical entity 15634
      Skin and Connective Tissue Diseases 6948
        connective tissue disease 5397
          bone disease 3902
            bone remodeling disease 298
              bone resorption disease 188
                osteoporosis 145
                  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
                  Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay 1
                  Postmenopausal Osteoporosis 29
                  Prader-Willi Habitus, Osteopenia, and Camptodactyly 0
                  Premature Aging, Okamoto Type 0
                  Singleton Merten Syndrome + 2
                  Winchester syndrome 3
                  glucocorticoid-induced osteoporosis 0
                  hypophosphatemic nephrolithiasis/osteoporosis + 4
                  idiopathic juvenile osteoporosis 1
paths to the root