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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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


show annotations for term's descendants           Sort by:
 
bone resorption disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHR aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19934163 NCBI chr 7:17,949,254...17,998,737 JBrowse link
G BMP7 bone morphogenetic protein 7 ISO CTD Direct Evidence: therapeutic CTD PMID:17513972 NCBI chr20:53,509,484...53,606,889
Ensembl chr20:54,788,974...54,885,021
JBrowse link
G COL2A1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:27028940 NCBI chr12:40,726,137...40,757,690 JBrowse link
G CXCL2 C-X-C motif chemokine ligand 2 ISO CTD Direct Evidence: therapeutic CTD PMID:21507677 NCBI chr 4:50,092,989...50,095,541
Ensembl chr 4:55,925,562...55,986,555
JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11985600 NCBI chr15:30,152,924...30,282,854
Ensembl chr15:48,486,688...48,521,554
JBrowse link
G GHRL ghrelin and obestatin prepropeptide ISO CTD Direct Evidence: therapeutic CTD PMID:29477364 NCBI chr 3:10,221,829...10,229,229
Ensembl chr 3:10,573,537...10,580,723
JBrowse link
G PTH parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:9881647 NCBI chr11:13,653,777...13,657,901
Ensembl chr11:13,347,838...13,351,802
JBrowse link
G PTHLH parathyroid hormone like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:16769263 NCBI chr12:58,341,361...58,355,804
Ensembl chr12:60,960,071...60,973,750
JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:15845617 PMID:18496637 PMID:23333834 NCBI chr 8:115,614,778...115,643,387
Ensembl chr 8:118,134,305...118,162,422
JBrowse link
G TNFSF11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26319416 NCBI chr13:23,750,835...23,784,740 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 chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359
JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12913070 PMID:17152860 NCBI chr 1:39,545,264...39,589,721
Ensembl chr 1:40,869,076...40,912,747
JBrowse link
Alveolar Bone Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALPL alkaline phosphatase, biomineralization associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:20630305 NCBI chr 1:20,702,509...20,772,301
Ensembl chr 1:21,667,732...21,736,688
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO associated with Periodontitis; RGD PMID:21241302 RGD:8661687 NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312
JBrowse link
G IL10 interleukin 10 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:26270535 RGD:11049527 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO RGD PMID:14630900 RGD:10413909 NCBI chr 1:201,820,355...201,867,673
Ensembl chr 1:206,812,981...206,860,356
JBrowse link
G TNF tumor necrosis factor treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:26270535 RGD:11049527 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G TNFSF11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19249596 NCBI chr13:23,750,835...23,784,740 JBrowse link
familial expansile osteolysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TNFRSF11A TNF receptor superfamily member 11a ISO OMIM NCBI chr18:55,695,394...55,761,307
Ensembl chr18:59,034,770...59,075,044
JBrowse link
Hajdu-Cheney syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOTCH2 notch receptor 2 ISO OMIM NCBI chr 1:82,457,829...82,615,142
Ensembl chr 1:117,538,243...117,612,840
JBrowse link
hypophosphatemic nephrolithiasis/osteoporosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Hypophosphatemic Nephrolithiasis/Osteoporosis ClinVar PMID:8528215 PMID:9354665 PMID:21920016 PMID:23348723 PMID:24029428 PMID:24033266 PMID:25524745 PMID:25741868 PMID:28492532 NCBI chr 5:172,703,724...172,711,618
Ensembl chr 5:179,766,243...179,773,485
JBrowse link
G SLC34A1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Hypophosphatemic Nephrolithiasis/Osteoporosis ClinVar PMID:8528215 PMID:9354665 PMID:21920016 PMID:23348723 PMID:24029428 PMID:24033266 PMID:25524745 PMID:25741868 PMID:28492532 NCBI chr 5:172,685,862...172,700,440
Ensembl chr 5:179,748,492...179,762,975
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 5:172,703,724...172,711,618
Ensembl chr 5:179,766,243...179,773,485
JBrowse link
G SLC34A1 solute carrier family 34 member 1 ISO OMIM NCBI chr 5:172,685,862...172,700,440
Ensembl chr 5:179,748,492...179,762,975
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 chr17:68,694,468...68,715,157
Ensembl chr17:74,250,406...74,271,234
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 chr11:63,396,511...63,534,471
Ensembl chr11:66,735,246...66,839,817
JBrowse link
Keratosis Palmoplantaris with Periodontopathia and Onychogryposis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTSC cathepsin C ISO OMIM NCBI chr11:83,299,827...83,345,383
Ensembl chr11:86,890,010...86,933,847
JBrowse link
Mandibuloacral Dysplasia with Type A Lipodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C ISO OMIM NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18554282 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 ISO ClinVar Annotator: match by term: Mandibuloacral dysostosis ClinVar NCBI chr 1:39,545,264...39,589,721
Ensembl chr 1:40,869,076...40,912,747
JBrowse link
multicentric carpotarsal osteolysis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAFB MAF bZIP transcription factor B ISO OMIM NCBI chr20:37,023,988...37,027,446
Ensembl chr20:38,127,722...38,128,693
JBrowse link
Nestor-Guillermo Progeria Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BANF1 BAF nuclear assembly factor 1 ISO OMIM NCBI chr11:61,366,480...61,368,547
Ensembl chr11:64,693,447...64,695,509
JBrowse link
G EIF1AD eukaryotic translation initiation factor 1A domain containing ISO ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome ClinVar NCBI chr11:61,356,142...61,366,589
Ensembl chr11:64,689,797...64,693,534
JBrowse link
Osteolysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANTXR2 ANTXR cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12973667 NCBI chr 4:44,124,282...44,284,949
Ensembl chr 4:49,972,472...50,132,738
JBrowse link
G IBSP integrin binding sialoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22407340 NCBI chr 4:80,061,960...80,105,560
Ensembl chr 4:90,817,072...90,830,021
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO OMIM:277950, Winchester syndrome RGD PMID:16542393 RGD:1601416 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
JBrowse link
G MMP7 matrix metallopeptidase 7 ISO associated with Prostatic Neoplasms RGD PMID:15894268 RGD:9685352 NCBI chr11:97,467,037...97,477,305
Ensembl chr11:100,960,032...100,971,099
JBrowse link
G PTHLH parathyroid hormone like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:11054717 NCBI chr12:58,341,361...58,355,804
Ensembl chr12:60,960,071...60,973,750
JBrowse link
G SPP1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22407340 NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15878362 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b ISO CTD Direct Evidence: therapeutic CTD PMID:12548581 NCBI chr 8:115,614,778...115,643,387
Ensembl chr 8:118,134,305...118,162,422
JBrowse link
G TNFSF11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18606716 NCBI chr13:23,750,835...23,784,740 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 chr16:35,740,441...35,817,891
Ensembl chr16:54,847,221...54,921,122
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO OMIM NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
JBrowse link
osteoporosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO RGD PMID:10700189 RGD:10047094 NCBI chr 9:101,834,189...102,005,811
Ensembl chr 9:130,484,333...130,652,941
JBrowse link
G ACE angiotensin I converting enzyme ISO associated with Hypertension RGD PMID:19590507 RGD:2325225 NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
JBrowse link
G ACTG1 actin gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr17:75,965,911...75,968,822
Ensembl chr17:81,668,221...81,671,087
JBrowse link
G ADCY5 adenylate cyclase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18029912 NCBI chr 3:120,380,094...120,545,725
Ensembl chr 3:127,283,921...127,446,508
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 chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641
JBrowse link
G ANTXR2 ANTXR cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12973667 NCBI chr 4:44,124,282...44,284,949
Ensembl chr 4:49,972,472...50,132,738
JBrowse link
G ANXA2 annexin A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr15:39,322,303...39,371,565
Ensembl chr15:57,625,425...57,674,250
JBrowse link
G AR androgen receptor treatment ISO RGD PMID:14600402 PMID:18847323 RGD:10043196 RGD:10043198 NCBI chr  X:56,722,828...56,909,004
Ensembl chr  X:66,791,081...66,969,357
JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr2B:102,574,700...102,612,492
Ensembl chr2B:221,159,439...221,197,360
JBrowse link
G ATM ATM serine/threonine kinase ISO RGD PMID:16644862 RGD:10047420 NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
JBrowse link
G ATP4B ATPase H+/K+ transporting subunit beta treatment ISO RGD PMID:26869358 RGD:14696735 NCBI chr13:94,796,689...94,807,210
Ensembl chr13:113,848,126...113,859,054
JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:22648569 RGD:10054093 NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468
JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO RGD PMID:22648569 RGD:10054093 NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
JBrowse link
G BGLAP bone gamma-carboxyglutamate protein susceptibility ISO associated with Diabetes Mellitus, type 2;associated with Diabetes Mellitus, type 2; protein:uncercarboxylated:serum
DNA:SNP, haplotype:promoter:g.-298C>T (human)
RGD PMID:15108065 PMID:21550389 PMID:23137636 RGD:10045665 RGD:6483552 RGD:6483579 NCBI chr 1:131,583,789...131,586,459
Ensembl chr 1:135,413,871...135,416,432
JBrowse link
G BMP2 bone morphogenetic protein 2 ISO RGD PMID:17002564 RGD:1625350 NCBI chr20:6,765,161...6,777,728
Ensembl chr20:6,546,173...6,558,610
JBrowse link
G CA2 carbonic anhydrase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 8:81,991,037...82,009,010
Ensembl chr 8:83,597,440...83,632,580
JBrowse link
G CALCA calcitonin related polypeptide alpha ISO RGD PMID:2502220 RGD:734677 NCBI chr11:15,055,897...15,061,539
Ensembl chr11:14,745,588...14,751,267
JBrowse link
G CALCR calcitonin receptor susceptibility ISO DNA:SNP:cds:g.1340T>C (human) OMIM
RGD
PMID:23137636 RGD:10045665 NCBI chr 7:85,382,167...85,532,562
Ensembl chr 7:98,975,906...99,047,162
JBrowse link
G CAP1 cyclase associated actin cytoskeleton regulatory protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 1:39,325,715...39,358,365
Ensembl chr 1:40,651,262...40,683,777
JBrowse link
G CCT2 chaperonin containing TCP1 subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr12:67,113,221...67,128,159
Ensembl chr12:69,883,710...69,898,671
JBrowse link
G CLEC11A C-type lectin domain containing 11A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27976999 NCBI chr19:47,682,806...47,690,389
Ensembl chr19:56,586,183...56,588,580
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 chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO OMIM NCBI chr 7:86,344,657...86,381,282
Ensembl chr 7:99,935,185...99,971,803
JBrowse link
G CTSK cathepsin K ISO RGD PMID:10469835 RGD:734856 NCBI chr 1:126,146,555...126,158,662
Ensembl chr 1:129,795,966...129,808,316
JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 ISO RGD PMID:29882473 RGD:14700776 NCBI chr2B:23,744,271...23,748,106
Ensembl chr2B:140,181,829...140,189,647
JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 ISO DNA:snps:multiple (human) RGD PMID:17002564 RGD:1625350 NCBI chr10:99,431,762...99,439,619
Ensembl chr10:102,896,376...102,901,514
JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO DNA:snps:multiple (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:17002564 PMID:20723554 RGD:1625350 NCBI chr15:30,152,924...30,282,854
Ensembl chr15:48,486,688...48,521,554
JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22337913 NCBI chr20:50,500,103...50,520,487
Ensembl chr20:51,721,685...51,742,716
JBrowse link
G DAAM2 dishevelled associated activator of morphogenesis 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30598549 NCBI chr 6:39,374,565...39,488,843
Ensembl chr 6:40,684,695...40,799,395
JBrowse link
G DBP D-box binding PAR bZIP transcription factor ISO RGD PMID:17002564 RGD:1625350 NCBI chr19:45,631,939...45,638,962 JBrowse link
G DSPP dentin sialophosphoprotein ISO protein:decreased expression:incisor dental pulp (rat) RGD PMID:23974864 RGD:12911019 NCBI chr 4:79,903,923...79,909,836 JBrowse link
G ENO1 enolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 1:7,619,490...7,637,558
Ensembl chr 1:8,855,074...8,873,215
JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO RGD PMID:23281008 RGD:10045609 NCBI chr19:42,356,039...42,427,754
Ensembl chr19:50,951,674...50,968,430
JBrowse link
G ESR1 estrogen receptor 1 no_association
treatment
ISO DNA:SNP:intron:397T>C (human)
DNA:SNP:exon:2014G>A (human)
DNA:repeat:5' utr:g.-1174(TA)10-27 (human)
DNA:repeat:intron:IVS5+225(CA)18-25 (human)
DNA:SNP, haplotype:intron:g.938C>T (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 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551
JBrowse link
G ESR2 estrogen receptor 2 susceptibility
treatment
ISO DNA:SNP, haplotype:3'utr:*39A>G (human)
DNA:repeat:3' utr: g.dupCA (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 chr14:44,807,875...44,919,780
Ensembl chr14:63,064,402...63,131,303
JBrowse link
G ESRRA estrogen related receptor alpha ISO RGD PMID:19936213 RGD:10401868 NCBI chr11:59,662,565...59,673,789
Ensembl chr11:63,009,295...63,018,744
JBrowse link
G FGA fibrinogen alpha chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 4:146,949,680...146,957,291 JBrowse link
G FGB fibrinogen beta chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 4:146,929,561...146,937,665
Ensembl chr 4:158,747,659...158,755,766
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:143,972,798...143,988,960
Ensembl chr  X:153,843,092...153,860,674
JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr12:6,665,218...6,669,170
Ensembl chr12:6,583,895...6,587,729
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 5:67,654,326...67,953,140
Ensembl chr 5:72,700,150...72,871,278
JBrowse link
G GORAB golgin, RAB6 interacting ISO CTD Direct Evidence: marker/mechanism CTD PMID:18997784 NCBI chr 1:146,020,446...146,042,334
Ensembl chr 1:149,736,641...149,758,010
JBrowse link
G GPC6 glypican 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28869591 NCBI chr13:74,408,999...75,588,065
Ensembl chr13:93,874,849...94,739,894
JBrowse link
G GPD2 glycerol-3-phosphate dehydrogenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr2B:43,694,744...43,845,764
Ensembl chr2B:160,938,514...161,117,320
JBrowse link
G GPX1 glutathione peroxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826
JBrowse link
G GSN gelsolin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 9:92,413,819...92,460,483
Ensembl chr 9:120,741,148...120,805,831
JBrowse link
G GSR glutathione-disulfide reductase ISO protein:decreased expression:blood RGD PMID:19464221 RGD:10401828 NCBI chr 8:29,990,543...30,040,157
Ensembl chr 8:27,180,300...27,229,557
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 chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472
JBrowse link
G HFE homeostatic iron regulator ISO associated with hemochromatosis RGD PMID:26829642 RGD:14746963 NCBI chr 6:25,921,663...25,930,852
Ensembl chr 6:26,580,358...26,588,591
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:103,673,172...103,999,133
Ensembl chr  X:114,199,485...114,503,201
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276
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 chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO RGD PMID:18079194 RGD:10045888 NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974
JBrowse link
G IGF2 insulin like growth factor 2 treatment ISO RGD PMID:12162999 RGD:10402555 NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO protein:decreased expression:serum RGD PMID:9284698 RGD:10402579 NCBI chr 7:46,564,234...46,573,145 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:104,092,993...104,146,062
Ensembl chr  X:114,597,077...114,635,253
JBrowse link
G IL1A interleukin 1 alpha ISO associated with Arthritis, Rheumatoid RGD PMID:10555884 RGD:6907107 NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801
JBrowse link
G IL1B interleukin 1 beta ISO RGD PMID:22997530 RGD:7204491 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15995586 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G IL6R interleukin 6 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15995586 NCBI chr 1:129,761,914...129,824,386
Ensembl chr 1:133,374,078...133,433,089
JBrowse link
G IRS1 insulin receptor substrate 1 ISO mRNA, protein:decreased expression:multiple RGD PMID:22820932 RGD:7207063 NCBI chr2B:113,973,191...114,041,127
Ensembl chr2B:232,849,239...232,852,967
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 chr13:90,886,095...90,917,724 JBrowse link
G KL klotho ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:9363890 RGD:10403047 NCBI chr13:14,272,463...14,321,122
Ensembl chr13:32,702,336...32,751,458
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 chr 7:120,230,896...120,248,602
Ensembl chr 7:132,885,011...132,901,519
JBrowse link
G LEPR leptin receptor susceptibility ISO DNA:polymorphisms:cds:p.K109R,Q223R(human) RGD PMID:23460508 RGD:10411886 NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768
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 chr11:27,330,279...27,437,201
Ensembl chr11:27,229,963...27,291,571
JBrowse link
G LOC100971425 somatotropin ISO associated with Diabetes Mellitus, Experimental RGD PMID:1466160 RGD:10003132 NCBI chr17:58,010,848...58,013,421 JBrowse link
G LOC100973922 splicing factor U2AF 35 kDa subunit-like protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr21:29,399,601...29,414,156 JBrowse link
G LOC100991079 interleukin-1 receptor antagonist protein treatment ISO human protein in a rat model RGD PMID:8182127 RGD:8551834 NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839
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:104,201,087...104,324,505
Ensembl chr  X:114,717,260...114,828,080
JBrowse link
G LRP5 LDL receptor related protein 5 treatment ISO OMIM
RGD
PMID:21977807 PMID:22704852 RGD:12793063 RGD:7240519 NCBI chr11:63,396,511...63,534,471
Ensembl chr11:66,735,246...66,839,817
JBrowse link
G LTF lactotransferrin ISO CTD Direct Evidence: therapeutic CTD PMID:16648989 PMID:16936800 NCBI chr 3:46,337,738...46,367,476
Ensembl chr 3:47,442,440...47,471,532
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:104,379,434...104,399,451
Ensembl chr  X:114,883,028...114,903,813
JBrowse link
G MAPK14 mitogen-activated protein kinase 14 treatment ISO RGD PMID:18442314 RGD:10045965 NCBI chr 6:35,586,847...35,683,041
Ensembl chr 6:36,788,233...36,871,114
JBrowse link
G MGLL monoglyceride lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 3:124,733,770...124,865,302
Ensembl chr 3:132,040,430...132,171,731
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO associated with osteoporosis; protein:increased expression:serum RGD PMID:19411568 RGD:5129553 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO RGD PMID:22704852 RGD:7240519 NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863
JBrowse link
G NOG noggin ISO RGD PMID:12975477 RGD:10414323 NCBI chr17:50,669,186...50,671,081
Ensembl chr17:55,532,394...55,533,092
JBrowse link
G NRIP1 nuclear receptor interacting protein 1 ISO DNA:silent mutation, haplotype:p.G75G (human) RGD PMID:16530497 RGD:10045825 NCBI chr21:1,565,149...1,801,358
Ensembl chr21:15,065,197...15,068,673
JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Osteoporosis ClinVar PMID:25741868 NCBI chr 3:190,890,242...190,995,133
Ensembl chr 3:201,207,607...201,312,358
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 5:68,528,765...68,668,305
Ensembl chr 5:73,563,758...73,710,316
JBrowse link
G P4HB prolyl 4-hydroxylase subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr17:76,248,252...76,266,152
Ensembl chr17:81,950,422...81,968,109
JBrowse link
G PARK7 Parkinsonism associated deglycase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 1:6,722,260...6,745,915
Ensembl chr 1:7,969,280...7,993,271
JBrowse link
G PCNA proliferating cell nuclear antigen ISO protein:increased expression:osteoblast: RGD PMID:22550338 RGD:10045656 NCBI chr20:5,134,930...5,146,603
Ensembl chr20:4,927,731...4,939,440
JBrowse link
G PDLIM4 PDZ and LIM domain 4 ISO OMIM NCBI chr 5:127,680,339...127,696,172
Ensembl chr 5:133,843,313...133,857,935
JBrowse link
G PGLS 6-phosphogluconolactonase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr19:16,998,851...17,008,558
Ensembl chr19:17,971,544...17,980,431
JBrowse link
G PKM pyruvate kinase M1/2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr15:51,149,584...51,182,193 JBrowse link
G PLEK pleckstrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr2A:68,414,281...68,446,647
Ensembl chr2A:69,537,983...69,570,393
JBrowse link
G PLS3 plastin 3 ISO OMIM NCBI chr  X:104,656,110...104,745,702
Ensembl chr  X:115,160,032...115,250,144
JBrowse link
G PNP purine nucleoside phosphorylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr14:1,343,921...1,351,670
Ensembl chr14:19,396,114...19,403,907
JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:3017235 PMID:4367732 PMID:6143199 PMID:6254450 PMID:19153526 NCBI chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706
JBrowse link
G PRDX3 peroxiredoxin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr10:115,738,346...115,749,482
Ensembl chr10:119,162,714...119,173,845
JBrowse link
G PSMA2 proteasome 20S subunit alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 7:41,304,746...41,319,844
Ensembl chr 7:41,348,364...41,363,986
JBrowse link
G PSMA5 proteasome 20S subunit alpha 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 1:111,776,428...111,803,827
Ensembl chr 1:111,015,365...111,031,944
JBrowse link
G PTGER4 prostaglandin E receptor 4 treatment ISO RGD PMID:16442794 RGD:10043381 NCBI chr 5:69,686,906...69,700,739
Ensembl chr 5:74,731,470...74,745,148
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 chr11:13,653,777...13,657,901
Ensembl chr11:13,347,838...13,351,802
JBrowse link
G RAB7B RAB7B, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 1:181,584,814...181,611,831
Ensembl chr 1:185,867,145...185,894,691
JBrowse link
G RBMXL3 RBMX like 3 ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 ClinVar PMID:24088041 PMID:26633545 NCBI chr  X:104,279,727...104,283,137 JBrowse link
G REN renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18847324 NCBI chr 1:179,757,653...179,769,530
Ensembl chr 1:184,046,117...184,057,393
JBrowse link
G RSU1 Ras suppressor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr10:16,909,912...17,134,697
Ensembl chr10:17,184,511...17,407,769
JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Osteoporosis ClinVar PMID:25741868 PMID:28492532 NCBI chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327
JBrowse link
G SIRT1 sirtuin 1 treatment ISO RGD PMID:22555620 PMID:25377437 RGD:10047129 RGD:10053568 NCBI chr10:64,368,878...64,401,684
Ensembl chr10:66,681,598...66,715,069
JBrowse link
G SOD2 superoxide dismutase 2 susceptibility
no_association
ISO DNA:SNPs:intron, exon:g.31A>G, g.327C>T (p.A16V) (rs5746094, rs4880) (human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs:5' utr, exon, intron:multiple
RGD
CTD
PMID:18924182 PMID:26336112 RGD:11035299 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
JBrowse link
G TGFB1 transforming growth factor beta 1 treatment ISO CTD Direct Evidence: marker/mechanism
associated with Uremia;protein:increased expression:osteoblast, osteoclast
CTD
RGD
PMID:12706579 PMID:17647196 RGD:10003128 NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
JBrowse link
G TLN1 talin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 9:35,549,328...35,583,376
Ensembl chr 9:36,351,836...36,379,228
JBrowse link
G TNFRSF11A TNF receptor superfamily member 11a ISO RGD PMID:17002564 RGD:1625350 NCBI chr18:55,695,394...55,761,307
Ensembl chr18:59,034,770...59,075,044
JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b ISO CTD Direct Evidence: marker/mechanism CTD PMID:17667143 NCBI chr 8:115,614,778...115,643,387
Ensembl chr 8:118,134,305...118,162,422
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO RGD PMID:17002564 RGD:1625350 NCBI chr 1:10,915,743...10,957,765
Ensembl chr 1:12,130,663...12,172,646
JBrowse link
G TNFSF11 TNF superfamily member 11 ISO CTD Direct Evidence: therapeutic RGD
CTD
PMID:17002564 PMID:17882678 RGD:1625350 NCBI chr13:23,750,835...23,784,740 JBrowse link
G TPI1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr12:6,999,275...7,002,678
Ensembl chr12:6,910,813...6,913,612
JBrowse link
G TPM4 tropomyosin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr19:15,557,683...15,593,143
Ensembl chr19:16,540,805...16,575,312
JBrowse link
G TUBA1C tubulin alpha 1c ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr12:39,476,809...39,524,473
Ensembl chr12:40,362,655...40,402,092
JBrowse link
G VCL vinculin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr10:70,521,259...70,641,917
Ensembl chr10:73,191,375...73,311,296
JBrowse link
G VDR vitamin D receptor no_association ISO associated with Cystic Fibrosis RGD PMID:16713399 RGD:4889871 NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192
JBrowse link
G WDR1 WD repeat domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 4:4,487,054...4,516,732
Ensembl chr 4:9,805,164...9,848,032
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 chr12:39,767,839...39,772,460
Ensembl chr12:40,648,413...40,652,583
JBrowse link
G ZDHHC13 zinc finger DHHC-type palmitoyltransferase 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20548961 NCBI chr11:19,143,181...19,202,424
Ensembl chr11:19,056,902...19,115,261
JBrowse link
Penttinen-Aula Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDGFRB platelet derived growth factor receptor beta ISO OMIM NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530
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 chr19:11,120,451...11,125,167
Ensembl chr19:11,832,575...11,835,203
JBrowse link
G AR androgen receptor ISO RGD PMID:12593895 RGD:1578682 NCBI chr  X:56,722,828...56,909,004
Ensembl chr  X:66,791,081...66,969,357
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:43,071,039...43,076,941
Ensembl chr  X:50,783,925...50,791,369
JBrowse link
G CAT catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17227729 NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
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 chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Postmenopausal osteoporosis ClinVar PMID:1463018 PMID:2052622 PMID:7695699 PMID:7860070 PMID:8094076 PMID:8218237 PMID:8786074 PMID:9016532 PMID:9272740 PMID:9594376 PMID:16705691 PMID:17078022 PMID:19344236 PMID:21520333 PMID:22589248 PMID:25326637 PMID:25450603 PMID:25741868 PMID:25944380 PMID:26604951 PMID:27519266 PMID:28492532 NCBI chr 7:86,344,657...86,381,282
Ensembl chr 7:99,935,185...99,971,803
JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO DNA:snps:exon:multiple (human) RGD PMID:17118999 RGD:1600860 NCBI chr15:30,152,924...30,282,854
Ensembl chr15:48,486,688...48,521,554
JBrowse link
G ESR1 estrogen receptor 1 susceptibility
treatment
ISO DNA:SNPs, haplotype:intron: (rs2234693, rs9340799) (human)
DNA:SNP:intron:IVS1T>C (human)
RGD PMID:16604479 PMID:16972020 RGD:10045838 RGD:8158082 NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551
JBrowse link
G ESR2 estrogen receptor 2 susceptibility ISO DNA:SNP, haplotype:3'utr:*39A>G (human)
DNA:repeat:intron:IVS5-3919(CA)18-26 (human)
DNA:SNP: :-1213T>C (human)
RGD PMID:16777502 PMID:17945165 PMID:22335445 RGD:10045847 RGD:10045849 RGD:1626507 NCBI chr14:44,807,875...44,919,780
Ensembl chr14:63,064,402...63,131,303
JBrowse link
G FDPS farnesyl diphosphate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:31774873 NCBI chr 1:130,653,316...130,665,196
Ensembl chr 1:134,258,968...134,270,237
JBrowse link
G FGF23 fibroblast growth factor 23 ISO protein:increased expression: : RGD PMID:24101107 RGD:10044241 NCBI chr12:4,479,116...4,488,797
Ensembl chr12:4,400,802...4,412,000
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha treatment ISO RGD PMID:18067744 PMID:24023068 RGD:10402191 RGD:10402540 NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885
JBrowse link
G IGF1 insulin like growth factor 1 ISO protein:decreased expression:serum: RGD PMID:11063288 RGD:10045861 NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
JBrowse link
G IGF2 insulin like growth factor 2 treatment ISO RGD PMID:16753016 RGD:10402556 NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890
JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032749 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032749 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G IL7 interleukin 7 treatment ISO RGD PMID:23662133 RGD:10402930 NCBI chr 8:75,254,166...75,337,373
Ensembl chr 8:76,895,095...76,966,918
JBrowse link
G LRP5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Postmenopausal osteoporosis ClinVar PMID:25741868 PMID:28492532 NCBI chr11:63,396,511...63,534,471
Ensembl chr11:66,735,246...66,839,817
JBrowse link
G NRIP1 nuclear receptor interacting protein 1 susceptibility ISO DNA:silent mutation:cds:p.G75G (human) RGD PMID:22335445 RGD:10045849 NCBI chr21:1,565,149...1,801,358
Ensembl chr21:15,065,197...15,068,673
JBrowse link
G PTGER4 prostaglandin E receptor 4 treatment ISO RGD PMID:11917107 RGD:10003045 NCBI chr 5:69,686,906...69,700,739
Ensembl chr 5:74,731,470...74,745,148
JBrowse link
G PTH parathyroid hormone ISO CTD Direct Evidence: therapeutic CTD PMID:20567999 NCBI chr11:13,653,777...13,657,901
Ensembl chr11:13,347,838...13,351,802
JBrowse link
G PTK2B protein tyrosine kinase 2 beta ISO RGD PMID:17537919 RGD:1642610 NCBI chr 8:26,580,855...26,729,378
Ensembl chr 8:23,869,825...23,932,474
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10750555 NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032749 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G VDR vitamin D receptor treatment ISO DNA:SNP:exon: (rs2228570) (human) RGD PMID:16604479 RGD:8158082 NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192
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 chr2B:49,560,620...49,612,086
Ensembl chr2B:166,928,994...166,980,170
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 chr2B:49,560,620...49,612,086
Ensembl chr2B:166,928,994...166,980,170
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 chr 9:32,230,012...32,302,159
Ensembl chr 9:33,040,000...33,110,557
JBrowse link
Warburg-Cinotti Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DDR2 discoidin domain receptor tyrosine kinase 2 ISO OMIM NCBI chr 1:138,048,730...138,200,426
Ensembl chr 1:141,932,158...141,990,766
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 chr14:3,654,125...3,665,158
Ensembl chr14:21,753,305...21,764,058
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12842
    disease of anatomical entity 12377
      musculoskeletal system disease 4716
        bone disease 2532
          bone resorption disease 157
            Alveolar Bone Loss 6
            Osteolysis + 23
            ainhum + 0
            osteitis fibrosa 0
            osteoporosis + 132
Path 2
Term Annotations click to browse term
  disease 12842
    disease of anatomical entity 12377
      musculoskeletal system disease 4716
        connective tissue disease 3117
          bone disease 2532
            bone remodeling disease 226
              bone resorption disease 157
                Alveolar Bone Loss 6
                Osteolysis + 23
                ainhum + 0
                osteitis fibrosa 0
                osteoporosis + 132
paths to the root