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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 9:86,511,866...86,555,950
Ensembl chr 9:86,511,369...86,555,943
JBrowse link
G BMP7 bone morphogenetic protein 7 ISO CTD Direct Evidence: therapeutic CTD PMID:17513972 NCBI chr17:57,567,770...57,676,516
Ensembl chr17:57,584,091...57,676,944
JBrowse link
G COL2A1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:27028940 NCBI chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,220...78,380,924
JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11985600 NCBI chr 1:120,596,235...120,627,806
Ensembl chr 1:120,367,667...120,695,899
JBrowse link
G GHRL ghrelin and obestatin prepropeptide ISO CTD Direct Evidence: therapeutic CTD PMID:29477364 NCBI chr13:66,442,106...66,453,576
Ensembl chr13:66,316,436...66,452,917
JBrowse link
G PTH parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:9881647 NCBI chr 2:45,757,398...45,760,433
Ensembl chr 2:45,757,398...45,760,415
JBrowse link
G PTHLH parathyroid hormone like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:16769263 NCBI chr 5:45,750,968...45,763,421
Ensembl chr 5:45,751,292...45,763,415
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 4:19,850,212...19,879,132 JBrowse link
G TNFSF11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26319416 NCBI chr11:24,468,011...24,505,421
Ensembl chr11:24,466,586...24,505,422
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 chr 1:100,521,843...100,633,501
Ensembl chr 1:100,514,791...100,628,029
JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12913070 PMID:17152860 NCBI chr 6:96,008,307...96,057,131
Ensembl chr 6:96,008,455...96,062,951
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 6:79,589,695...79,649,646
Ensembl chr 6:79,588,659...79,649,648
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO associated with Periodontitis; RGD PMID:21241302 RGD:8661687 NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,251,959...29,376,346
JBrowse link
G IL10 interleukin 10 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:26270535 RGD:11049527 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO RGD PMID:14630900 RGD:10413909 NCBI chr10:14,203,157...14,241,164
Ensembl chr10:14,203,159...14,241,197
JBrowse link
G TNF tumor necrosis factor treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:26270535 RGD:11049527 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G TNFSF11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19249596 NCBI chr11:24,468,011...24,505,421
Ensembl chr11:24,466,586...24,505,422
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 chr 1:159,128,039...159,187,476
Ensembl chr 1:159,128,038...159,187,481
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 4:100,951,522...101,152,348
Ensembl chr 4:100,951,507...101,150,198
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 2:80,527,451...80,544,835
Ensembl chr 2:80,526,767...80,546,096
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 2:80,548,208...80,563,380
Ensembl chr 2:80,548,232...80,563,321
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 2:80,527,451...80,544,835
Ensembl chr 2:80,526,767...80,546,096
JBrowse link
G SLC34A1 solute carrier family 34 member 1 ISO OMIM NCBI chr 2:80,548,208...80,563,380
Ensembl chr 2:80,548,232...80,563,321
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 chr12:6,466,138...6,483,539
Ensembl chr12:6,466,120...6,493,428
JBrowse link
idiopathic juvenile osteoporosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRP5 LDL receptor related protein 5 ISO DNA:mutations:exon:c.3446 T > A (p.L1149Q),c.3553 G > A (p.G1185R)(human) RGD PMID:22487062 RGD:12793058 NCBI chr 2:4,533,721...4,653,997
Ensembl chr 2:4,533,593...4,653,945
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 chr 9:21,726,628...21,761,796
Ensembl chr 9:21,722,035...21,761,473
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 4:93,899,019...93,927,255
Ensembl chr 4:93,899,026...93,949,398
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18554282 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 ISO ClinVar Annotator: match by term: Mandibuloacral dysostosis ClinVar NCBI chr 6:96,008,307...96,057,131
Ensembl chr 6:96,008,455...96,062,951
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 chr17:43,408,390...43,411,782 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 chr 2:6,333,451...6,335,326 JBrowse link
G EIF1AD eukaryotic translation initiation factor 1A domain containing ISO ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome ClinVar NCBI chr 2:6,334,882...6,340,125
Ensembl chr 2:6,334,197...6,340,112
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 8:137,728,849...137,878,336
Ensembl chr 8:137,618,616...137,926,894
JBrowse link
G IBSP integrin binding sialoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22407340 NCBI chr 8:131,208,281...131,222,048
Ensembl chr 8:131,208,282...131,222,050
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO OMIM:277950, Winchester syndrome RGD PMID:16542393 RGD:1601416 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,594...30,086,982
JBrowse link
G MMP7 matrix metallopeptidase 7 ISO associated with Prostatic Neoplasms RGD PMID:15894268 RGD:9685352 NCBI chr 9:33,214,590...33,225,080
Ensembl chr 9:33,214,594...33,225,080
JBrowse link
G PTHLH parathyroid hormone like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:11054717 NCBI chr 5:45,750,968...45,763,421
Ensembl chr 5:45,751,292...45,763,415
JBrowse link
G SPP1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22407340 NCBI chr 8:131,077,786...131,085,334
Ensembl chr 8:131,077,786...131,085,340
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15878362 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b ISO CTD Direct Evidence: therapeutic CTD PMID:12548581 NCBI chr 4:19,850,212...19,879,132 JBrowse link
G TNFSF11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18606716 NCBI chr11:24,468,011...24,505,421
Ensembl chr11:24,466,586...24,505,422
JBrowse link
Osteolysis Hereditary Multicentric term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LPCAT2 lysophosphatidylcholine acyltransferase 2 ISO ClinVar Annotator: match by term: Multicentric osteolysis, nodulosis and arthropathy ClinVar NCBI chr 6:29,999,504...30,056,858
Ensembl chr 6:29,998,488...30,056,862
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO OMIM NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,594...30,086,982
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 1:270,761,641...270,906,708
Ensembl chr 1:270,761,668...270,906,711
JBrowse link
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 ISO associated with Hypertension RGD PMID:19590507 RGD:2325225 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,639
JBrowse link
G ACTG1 actin gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr12:1,320,355...1,323,219
Ensembl chr12:1,160,350...1,323,217
JBrowse link
G ADCY5 adenylate cyclase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18029912 NCBI chr13:136,965,746...137,133,795
Ensembl chr13:136,973,000...137,135,349
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 7:24,218,116...24,221,162
Ensembl chr 7:24,218,116...24,228,756
JBrowse link
G ANTXR2 ANTXR cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12973667 NCBI chr 8:137,728,849...137,878,336
Ensembl chr 8:137,618,616...137,926,894
JBrowse link
G ANXA2 annexin A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 1:111,588,721...111,635,064
Ensembl chr 1:111,588,306...111,635,064
JBrowse link
G AR androgen receptor treatment ISO RGD PMID:14600402 PMID:18847323 RGD:10043196 RGD:10043198 NCBI chr  X:53,609,113...53,806,778
Ensembl chr  X:53,609,176...53,805,578
JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr15:117,617,584...117,649,063
Ensembl chr15:117,617,502...117,649,107
JBrowse link
G ATM ATM serine/threonine kinase ISO RGD PMID:16644862 RGD:10047420 NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,554
JBrowse link
G ATP4B ATPase H+/K+ transporting subunit beta treatment ISO RGD PMID:26869358 RGD:14696735 NCBI chr11:78,780,013...78,785,143
Ensembl chr11:78,780,013...78,785,116
JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:22648569 RGD:10054093 NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,187,260...54,228,144
JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO RGD PMID:22648569 RGD:10054093 NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,288,544...158,518,879
JBrowse link
G BMP2 bone morphogenetic protein 2 ISO RGD PMID:17002564 RGD:1625350 NCBI chr17:15,750,487...15,762,982
Ensembl chr17:15,749,835...15,761,215
JBrowse link
G CA2 carbonic anhydrase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 4:51,194,686...51,211,436
Ensembl chr 4:51,193,755...51,211,259
JBrowse link
G CALCB calcitonin-related polypeptide beta ISO RGD PMID:2502220 RGD:734677 NCBI chr 2:44,043,135...44,048,651 JBrowse link
G CALCR calcitonin receptor susceptibility ISO DNA:SNP:cds:g.1340T>C (human) OMIM
RGD
PMID:23137636 RGD:10045665 NCBI chr 9:73,279,874...73,403,516
Ensembl chr 9:73,279,911...73,403,434
JBrowse link
G CAP1 cyclase associated actin cytoskeleton regulatory protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 6:95,811,485...95,840,576
Ensembl chr 6:95,812,170...95,840,570
JBrowse link
G CCT2 chaperonin containing TCP1 subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 5:33,858,514...33,873,596
Ensembl chr 5:33,858,572...34,033,939
JBrowse link
G CLEC11A C-type lectin domain containing 11A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27976999 NCBI chr 6:55,502,892...55,505,690
Ensembl chr 6:55,496,722...55,506,666
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 chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO OMIM NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,398
JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 ISO RGD PMID:29882473 RGD:14700776 NCBI chr15:15,663,652...15,666,706
Ensembl chr15:15,663,494...15,667,233
JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 ISO DNA:snps:multiple (human) RGD PMID:17002564 RGD:1625350 NCBI chr14:113,805,616...113,820,445
Ensembl chr14:113,805,611...113,812,041
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 chr 1:120,596,235...120,627,806
Ensembl chr 1:120,367,667...120,695,899
JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22337913 NCBI chr17:55,110,546...55,130,328
Ensembl chr17:55,110,590...55,130,363
JBrowse link
G DAAM2 dishevelled associated activator of morphogenesis 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30598549 NCBI chr 7:35,127,245...35,285,933
Ensembl chr 7:35,159,711...35,285,941
JBrowse link
G DBP D-box binding PAR bZIP transcription factor ISO RGD PMID:17002564 RGD:1625350 NCBI chr 6:53,986,955...53,993,044
Ensembl chr 6:53,986,959...53,993,020
JBrowse link
G DSPP dentin sialophosphoprotein ISO protein:decreased expression:incisor dental pulp (rat) RGD PMID:23974864 RGD:12911019 NCBI chr 8:131,318,187...131,444,274
Ensembl chr 8:131,319,983...131,472,761
JBrowse link
G ENO1 enolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 6:69,385,879...69,401,664
Ensembl chr 6:69,385,882...69,401,117
JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO RGD PMID:23281008 RGD:10045609 NCBI chr 6:51,783,537...51,808,898 JBrowse link
G ESR1 estrogen receptor 1 no_association
treatment
ISO 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:SNP:intron:397T>C (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 1:14,217,032...14,604,906
Ensembl chr 1:14,217,036...14,493,363
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 1:193,823,666...193,907,330
Ensembl chr 1:193,722,164...193,906,565
JBrowse link
G ESRRA estrogen related receptor alpha ISO RGD PMID:19936213 RGD:10401868 NCBI chr 2:7,803,504...7,812,868
Ensembl chr 2:7,803,510...7,813,836
JBrowse link
G FGA fibrinogen alpha chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 8:74,574,870...74,584,202
Ensembl chr 8:74,574,882...74,584,202
JBrowse link
G FGB fibrinogen beta chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 8:74,598,170...74,607,409
Ensembl chr 8:74,594,255...74,607,360
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:125,029,147...125,041,040
Ensembl chr  X:125,025,257...125,041,033
JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 5:64,129,678...64,135,194
Ensembl chr 5:64,129,680...64,133,991
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 chr16:27,126,300...27,422,618
Ensembl chr16:27,126,286...27,422,268
JBrowse link
G GORAB golgin, RAB6 interacting ISO CTD Direct Evidence: marker/mechanism CTD PMID:18997784 NCBI chr 4:80,568,535...80,590,709
Ensembl chr 4:80,567,797...80,590,680
JBrowse link
G GPC6 glypican 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28869591 NCBI chr11:62,436,143...63,560,908
Ensembl chr11:62,438,652...63,560,903
JBrowse link
G GPD2 glycerol-3-phosphate dehydrogenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr15:63,592,723...63,728,636
Ensembl chr15:63,592,698...63,728,634
JBrowse link
G GPX1 glutathione peroxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr13:31,916,269...31,917,337
Ensembl chr13:31,914,932...31,917,335
JBrowse link
G GSN gelsolin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 1:261,295,711...261,372,848
Ensembl chr 1:261,295,713...261,385,287
JBrowse link
G GSR glutathione-disulfide reductase ISO protein:decreased expression:blood RGD PMID:19464221 RGD:10401828 NCBI chr15:54,382,564...54,433,989
Ensembl chr15:54,382,567...54,433,989
JBrowse link
G HFE homeostatic iron regulator ISO associated with hemochromatosis RGD PMID:26829642 RGD:14746963 NCBI chr 7:20,758,604...20,767,004
Ensembl chr 7:20,758,741...20,768,741
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:94,053,415...94,313,352
Ensembl chr  X:94,053,456...94,313,356
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 7:55,654,298...55,675,571
Ensembl chr 7:55,651,606...55,681,426
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 chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,037
JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO RGD PMID:18079194 RGD:10045888 NCBI chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,925...137,690,666
JBrowse link
G IGF2 insulin like growth factor 2 treatment ISO RGD PMID:12162999 RGD:10402555 NCBI chr 2:1,469,183...1,496,417 JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO protein:decreased expression:serum RGD PMID:9284698 RGD:10402579 NCBI chr18:50,002,921...50,009,425 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:94,402,665...94,455,609
Ensembl chr  X:94,402,675...94,439,060
JBrowse link
G IL1A interleukin 1 alpha ISO associated with Arthritis, Rheumatoid RGD PMID:10555884 RGD:6907107 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
JBrowse link
G IL1RN interleukin 1 receptor antagonist treatment ISO human protein in a rat model RGD PMID:8182127 RGD:8551834
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15995586 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G IL6R interleukin 6 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15995586 NCBI chr 4:95,322,426...95,381,393
Ensembl chr 4:95,322,426...95,381,282
JBrowse link
G IRS1 insulin receptor substrate 1 ISO mRNA, protein:decreased expression:multiple RGD PMID:22820932 RGD:7207063 NCBI chr15:128,245,846...128,307,321
Ensembl chr15:128,245,846...128,308,335
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 chr11:76,626,158...76,654,639
Ensembl chr11:76,626,179...76,653,881
JBrowse link
G KL klotho ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:9363890 RGD:10403047 NCBI chr11:9,427,236...9,479,251
Ensembl chr11:9,427,198...9,478,346
JBrowse link
G LEP leptin treatment ISO human protein in a rat model
protein:increased expression:serum (rat)
associated with chronic obstructive pulmonary disease; protein:decreased expression:serum
RGD PMID:11459801 PMID:12609558 PMID:21376149 PMID:24250662 RGD:10053572 RGD:10053615 RGD:10053630 RGD:5128771 NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,447
JBrowse link
G LEPR leptin receptor susceptibility ISO DNA:polymorphisms:cds:p.K109R,Q223R(human) RGD PMID:23460508 RGD:10411886 NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,798,979...146,896,108
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 chr 2:32,871,837...32,979,150
Ensembl chr 2:32,871,871...32,979,148
JBrowse link
G LOC100127131 tubulin alpha-1C chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 5:15,153,516...15,269,783 JBrowse link
G LOC100158003 tubulin alpha-1D chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr15:121,305,563...121,311,919 JBrowse link
G LOC100739163 glutathione S-transferase P-like ISO associated with Cystic Fibrosis;DNA:missense mutation:cds:c.313A>G (p.I105V) (human) RGD PMID:24593045 RGD:10401929 NCBI chr 2:4,978,761...4,982,233 JBrowse link
G LOC110258578 interleukin-1 beta-like ISO RGD PMID:22997530 RGD:7204491
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:94,486,560...94,589,930
Ensembl chr  X:94,486,564...94,589,899
JBrowse link
G LRP5 LDL receptor related protein 5 treatment ISO OMIM
RGD
PMID:21977807 PMID:22704852 RGD:12793063 RGD:7240519 NCBI chr 2:4,533,721...4,653,997
Ensembl chr 2:4,533,593...4,653,945
JBrowse link
G LTF lactotransferrin ISO CTD Direct Evidence: therapeutic CTD PMID:16648989 PMID:16936800 NCBI chr13:29,413,886...29,445,751
Ensembl chr13:29,413,886...29,445,737
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:94,631,490...94,647,712 JBrowse link
G MAPK14 mitogen-activated protein kinase 14 treatment ISO RGD PMID:18442314 RGD:10045965 NCBI chr 7:31,791,398...31,861,544
Ensembl chr 7:31,790,104...31,862,038
JBrowse link
G MGLL monoglyceride lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr13:72,480,395...72,568,964
Ensembl chr13:72,479,337...72,568,962
JBrowse link
G MIR152 microRNA mir-152 ISO miRNA:increased expression:femur RGD PMID:31492082 RGD:21066345 NCBI chr12:24,292,249...24,292,328
Ensembl chr12:24,292,251...24,292,336
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO associated with osteoporosis; protein:increased expression:serum RGD PMID:19411568 RGD:5129553 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO RGD PMID:22704852 RGD:7240519 NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,119...12,461,078
JBrowse link
G NOG noggin ISO RGD PMID:12975477 RGD:10414323 NCBI chr12:32,891,321...32,892,206
Ensembl chr12:32,891,321...32,892,206
JBrowse link
G NRIP1 nuclear receptor interacting protein 1 ISO DNA:silent mutation, haplotype:p.G75G (human) RGD PMID:16530497 RGD:10045825 NCBI chr13:179,822,731...179,916,226
Ensembl chr13:179,824,862...179,915,177
JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Osteoporosis ClinVar PMID:25741868 NCBI chr13:130,624,771...130,718,345
Ensembl chr13:130,624,823...130,719,083
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr16:26,514,497...26,659,739
Ensembl chr16:26,512,396...26,659,845
JBrowse link
G P4HB prolyl 4-hydroxylase subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr12:1,121,816...1,131,291
Ensembl chr12:1,121,793...1,131,291
JBrowse link
G PARK7 Parkinsonism associated deglycase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 6:68,629,327...68,645,147
Ensembl chr 6:68,629,214...68,645,520
JBrowse link
G PCNA proliferating cell nuclear antigen ISO protein:increased expression:osteoblast: RGD PMID:22550338 RGD:10045656 NCBI chr17:14,137,746...14,142,584
Ensembl chr17:14,125,814...14,185,276
JBrowse link
G PDLIM4 PDZ and LIM domain 4 ISO OMIM NCBI chr 2:134,555,367...134,570,356
Ensembl chr 2:134,555,666...134,570,350
JBrowse link
G PGLS 6-phosphogluconolactonase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 2:60,186,690...60,198,037
Ensembl chr 2:60,164,259...60,197,648
JBrowse link
G PKM pyruvate kinase, muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 7:60,971,807...61,032,780 JBrowse link
G PLEK pleckstrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 3:73,877,741...73,910,163
Ensembl chr 3:73,877,743...74,005,519
JBrowse link
G PLS3 plastin 3 ISO OMIM NCBI chr  X:94,885,098...94,971,664
Ensembl chr  X:94,885,118...94,971,664
JBrowse link
G PNP purine nucleoside phosphorylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 7:78,426,838...78,447,029
Ensembl chr 7:78,424,740...78,446,997
JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:3017235 PMID:4367732 PMID:6143199 PMID:6254450 PMID:19153526 NCBI chr 3:113,661,712...113,668,558 JBrowse link
G PRDX3 peroxiredoxin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr14:129,079,050...129,090,790
Ensembl chr14:129,079,052...129,090,788
JBrowse link
G PSMA2 proteasome 20S subunit alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr18:51,909,399...51,919,859
Ensembl chr18:51,909,473...51,921,243
JBrowse link
G PSMA5 proteasome 20S subunit alpha 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 4:110,695,429...110,717,308
Ensembl chr 4:110,662,692...110,717,293
JBrowse link
G PTGER4 prostaglandin E receptor 4 treatment ISO RGD PMID:16442794 RGD:10043381 NCBI chr16:25,670,832...25,686,556
Ensembl chr16:25,670,862...25,686,552
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 chr 2:45,757,398...45,760,433
Ensembl chr 2:45,757,398...45,760,415
JBrowse link
G RAB7B RAB7B, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 9:66,635,636...66,666,034
Ensembl chr 9:66,635,637...66,666,037
JBrowse link
G REN renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18847324 NCBI chr 9:64,809,143...64,822,605
Ensembl chr 9:64,809,146...64,822,636
JBrowse link
G RSU1 Ras suppressor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr10:45,079,014...45,492,073
Ensembl chr10:45,079,047...45,289,422
JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Osteoporosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:47,339,759...47,458,457 JBrowse link
G SIRT1 sirtuin 1 treatment ISO RGD PMID:22555620 PMID:25377437 RGD:10047129 RGD:10053568 NCBI chr14:71,091,167...71,126,351
Ensembl chr14:71,091,157...71,123,299
JBrowse link
G SOD2 superoxide dismutase 2 no_association
susceptibility
ISO DNA:SNPs:5' utr, exon, intron:multiple
DNA:SNPs:intron, exon:g.31A>G, g.327C>T (p.A16V) (rs5746094, rs4880) (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:18924182 PMID:26336112 RGD:11035299 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,651,280...7,691,723
JBrowse link
G TGFB1 transforming growth factor beta 1 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 6:49,332,169...49,348,642
Ensembl chr 6:49,332,169...49,349,048
JBrowse link
G TLN1 talin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 1:236,416,041...236,450,978
Ensembl chr 1:236,416,044...236,450,922
JBrowse link
G TNFRSF11A TNF receptor superfamily member 11a ISO RGD PMID:17002564 RGD:1625350 NCBI chr 1:159,128,039...159,187,476
Ensembl chr 1:159,128,038...159,187,481
JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b ISO CTD Direct Evidence: marker/mechanism CTD PMID:17667143 NCBI chr 4:19,850,212...19,879,132 JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO RGD PMID:17002564 RGD:1625350 NCBI chr 6:72,195,420...72,231,146
Ensembl chr 6:72,195,435...72,231,149
JBrowse link
G TNFSF11 TNF superfamily member 11 ISO CTD Direct Evidence: therapeutic CTD
RGD
PMID:17002564 PMID:17882678 RGD:1625350 NCBI chr11:24,468,011...24,505,421
Ensembl chr11:24,466,586...24,505,422
JBrowse link
G TPI1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 5:63,839,473...63,842,853
Ensembl chr 5:63,837,506...63,843,137
JBrowse link
G TPM4 tropomyosin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 2:61,453,721...61,476,781
Ensembl chr 2:61,453,721...61,476,781
JBrowse link
G U2AF1 U2 small nuclear RNA auxiliary factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr13:206,244,772...206,257,697 JBrowse link
G VCL vinculin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr14:76,700,143...76,811,875
Ensembl chr14:76,700,168...76,811,875
JBrowse link
G VDR vitamin D receptor no_association ISO associated with Cystic Fibrosis RGD PMID:16713399 RGD:4889871 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,267,321
JBrowse link
G WDR1 WD repeat domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 8:6,413,338...6,452,383
Ensembl chr 8:6,413,347...6,452,346
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 chr 5:15,010,607...15,015,007
Ensembl chr 5:15,010,985...15,014,079
JBrowse link
G ZDHHC13 zinc finger DHHC-type palmitoyltransferase 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20548961 NCBI chr 2:40,251,511...40,310,455
Ensembl chr 2:40,251,246...40,311,553
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 2:151,155,753...151,192,818
Ensembl chr 2:151,155,754...151,192,647
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 2:70,206,159...70,209,855
Ensembl chr 2:70,206,159...70,208,328
JBrowse link
G AR androgen receptor ISO RGD PMID:12593895 RGD:1578682 NCBI chr  X:53,609,113...53,806,778
Ensembl chr  X:53,609,176...53,805,578
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:44,613,122...44,620,575
Ensembl chr  X:44,613,122...44,620,575
JBrowse link
G CAT catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17227729 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
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 chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003
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 chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,398
JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO DNA:snps:exon:multiple (human) RGD PMID:17118999 RGD:1600860 NCBI chr 1:120,596,235...120,627,806
Ensembl chr 1:120,367,667...120,695,899
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 1:14,217,032...14,604,906
Ensembl chr 1:14,217,036...14,493,363
JBrowse link
G ESR2 estrogen receptor 2 susceptibility ISO DNA:SNP, haplotype:3'utr:*39A>G (human)
DNA:SNP: :-1213T>C (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 1:193,823,666...193,907,330
Ensembl chr 1:193,722,164...193,906,565
JBrowse link
G FDPS farnesyl diphosphate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:31774873 NCBI chr 4:94,500,140...94,514,820
Ensembl chr 4:94,489,215...94,518,408
JBrowse link
G FGF23 fibroblast growth factor 23 ISO protein:increased expression: : RGD PMID:24101107 RGD:10044241 NCBI chr 5:66,028,591...66,038,078
Ensembl chr 5:66,028,776...66,037,739
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha treatment ISO RGD PMID:18067744 PMID:24023068 RGD:10402191 RGD:10402540 NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,181...190,674,850
JBrowse link
G IGF1 insulin like growth factor 1 ISO protein:decreased expression:serum: RGD PMID:11063288 RGD:10045861 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,037
JBrowse link
G IGF2 insulin like growth factor 2 treatment ISO RGD PMID:16753016 RGD:10402556 NCBI chr 2:1,469,183...1,496,417 JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032749 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G IL7 interleukin 7 treatment ISO RGD PMID:23662133 RGD:10402930 NCBI chr 4:57,677,895...57,744,713
Ensembl chr 4:57,685,069...57,753,797
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032749
G LRP5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Postmenopausal osteoporosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:4,533,721...4,653,997
Ensembl chr 2:4,533,593...4,653,945
JBrowse link
G NRIP1 nuclear receptor interacting protein 1 susceptibility ISO DNA:silent mutation:cds:p.G75G (human) RGD PMID:22335445 RGD:10045849 NCBI chr13:179,822,731...179,916,226
Ensembl chr13:179,824,862...179,915,177
JBrowse link
G PTGER4 prostaglandin E receptor 4 treatment ISO RGD PMID:11917107 RGD:10003045 NCBI chr16:25,670,832...25,686,556
Ensembl chr16:25,670,862...25,686,552
JBrowse link
G PTH parathyroid hormone ISO CTD Direct Evidence: therapeutic CTD PMID:20567999 NCBI chr 2:45,757,398...45,760,433
Ensembl chr 2:45,757,398...45,760,415
JBrowse link
G PTK2B protein tyrosine kinase 2 beta ISO RGD PMID:17537919 RGD:1642610 NCBI chr14:11,063,662...11,194,196
Ensembl chr14:11,064,492...11,194,194
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10750555 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,169...49,349,048
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032749 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
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 chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,267,321
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 chr15:68,930,998...68,985,145
Ensembl chr15:68,928,244...68,985,074
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 chr15:68,930,998...68,985,145
Ensembl chr15:68,928,244...68,985,074
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 chr10:33,891,720...33,976,151
Ensembl chr10:33,865,838...33,933,455
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 4:87,749,738...87,911,818
Ensembl chr 4:87,756,168...87,911,375
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 7:76,174,502...76,185,931
Ensembl chr 7:76,174,500...76,185,923
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13430
    disease of anatomical entity 13094
      musculoskeletal system disease 5645
        bone disease 2560
          bone resorption disease 154
            Alveolar Bone Loss 6
            Osteolysis + 23
            ainhum + 0
            osteitis fibrosa 0
            osteoporosis + 130
Path 2
Term Annotations click to browse term
  disease 13430
    disease of anatomical entity 13094
      musculoskeletal system disease 5645
        connective tissue disease 3811
          bone disease 2560
            bone remodeling disease 222
              bone resorption disease 154
                Alveolar Bone Loss 6
                Osteolysis + 23
                ainhum + 0
                osteitis fibrosa 0
                osteoporosis + 130
paths to the root