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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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


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osteoporosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abl1 c-abl oncogene 1, non-receptor tyrosine kinase IMP RGD PMID:10700189 RGD:10047094 NCBI chr 2:31,688,244...31,807,093
Ensembl chr 2:31,688,376...31,804,227
JBrowse link
G Ace angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 ISO associated with Hypertension RGD PMID:19590507 RGD:2325225 NCBI chr11:105,967,948...105,989,964
Ensembl chr11:105,967,945...105,989,964
JBrowse link
G Actg1 actin, gamma, cytoplasmic 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr11:120,345,687...120,348,495
Ensembl chr11:120,345,690...120,348,542
JBrowse link
G Adcy5 adenylate cyclase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18029912 NCBI chr16:35,154,494...35,305,743
Ensembl chr16:35,154,877...35,305,738
JBrowse link
G Ager advanced glycosylation end product-specific receptor IEP
ISO
mRNA:increased expression:proximal end of left femur (rat) RGD PMID:21542009, PMID:22036861 RGD:6767561, RGD:7245948 NCBI chr17:34,597,460...34,600,937
Ensembl chr17:34,597,862...34,600,936
JBrowse link
G Antxr2 anthrax toxin receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12973667 NCBI chr 5:97,884,688...98,031,017
Ensembl chr 5:97,882,783...98,031,043
JBrowse link
G Anxa2 annexin A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 9:69,453,683...69,491,792
Ensembl chr 9:69,453,620...69,491,795
JBrowse link
G Ar androgen receptor treatment ISO
IDA
RGD PMID:14600402, PMID:18847323 RGD:10043196, RGD:10043198 NCBI chr  X:98,148,757...98,323,218
Ensembl chr  X:98,148,769...98,323,215
JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 1:71,557,156...71,579,403
Ensembl chr 1:71,557,150...71,579,631
JBrowse link
G Atm ataxia telangiectasia mutated IMP RGD PMID:16644862 RGD:10047420 NCBI chr 9:53,437,122...53,536,828
Ensembl chr 9:53,439,149...53,536,740
JBrowse link
G Atp4b ATPase, H+/K+ exchanging, beta polypeptide treatment IMP RGD PMID:26869358 RGD:14696735 NCBI chr 8:13,386,209...13,396,778
Ensembl chr 8:13,386,205...13,396,825
JBrowse link
G Bax BCL2-associated X protein treatment ISO RGD PMID:22648569 RGD:10054093 NCBI chr 7:45,461,695...45,466,903
Ensembl chr 7:45,461,697...45,466,898
JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 treatment ISO RGD PMID:22648569 RGD:10054093 NCBI chr 1:106,538,176...106,714,290
Ensembl chr 1:106,538,178...106,714,274
JBrowse link
G Bglap bone gamma carboxyglutamate protein susceptibility ISO DNA:SNP, haplotype:promoter:g.-298C>T (human)
associated with Diabetes Mellitus, type 2;associated with Diabetes Mellitus, type 2; protein:uncercarboxylated:serum
RGD PMID:21550389, PMID:23137636, PMID:15108065 RGD:6483552, RGD:10045665, RGD:6483579 NCBI chr 3:88,383,495...88,384,466
Ensembl chr 3:88,383,501...88,384,464
JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO RGD PMID:17002564 RGD:1625350 NCBI chr 2:133,552,159...133,562,896
Ensembl chr 2:133,552,159...133,562,885
JBrowse link
G Calca calcitonin/calcitonin-related polypeptide, alpha ISO RGD PMID:2502220 RGD:734677 NCBI chr 7:114,625,981...114,636,910
Ensembl chr 7:114,631,478...114,636,357
JBrowse link
G Calcr calcitonin receptor susceptibility ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 15
DNA:SNP:cds:g.1340T>C (human)
OMIM
ClinVar
PMID:9003491 PMID:9571205 PMID:9817931, PMID:23137636 RGD:10045665 NCBI chr 6:3,685,678...3,764,713
Ensembl chr 6:3,685,680...3,764,714
JBrowse link
G Cap1 CAP, adenylate cyclase-associated protein 1 (yeast) ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 4:122,859,048...122,886,076
Ensembl chr 4:122,859,047...122,886,056
JBrowse link
G Car2 carbonic anhydrase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 3:14,886,269...14,900,770
Ensembl chr 3:14,886,273...14,900,770
JBrowse link
G Cct2 chaperonin containing Tcp1, subunit 2 (beta) ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr10:117,050,997...117,063,852
Ensembl chr10:117,051,001...117,063,814
JBrowse link
G Ciita class II transactivator IEA OMIM:166710 MouseDO NCBI chr16:10,480,014...10,531,064
Ensembl chr16:10,480,059...10,528,418
JBrowse link
G Clec11a C-type lectin domain family 11, member a ISO CTD Direct Evidence: marker/mechanism CTD PMID:27976999 NCBI chr 7:44,303,766...44,306,959
Ensembl chr 7:44,302,687...44,306,902
JBrowse link
G Col1a1 collagen, type I, alpha 1 susceptibility ISO ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL
associated with Beta-Thalassemia;DNA:SNP:intron:g.2046G>T (human)
DNA:SNP, haplotype:intron:g.2046G>T (human)
OMIM
ClinVar
PMID:2037280 PMID:7695699 PMID:7942841 PMID:8218237 PMID:8408653 PMID:8613526 PMID:8669434 PMID:8808594 PMID:9016532 PMID:9067755 PMID:9295084 PMID:9443882 PMID:10931857 PMID:12590186 PMID:15024692 PMID:15024745 PMID:15741671 PMID:15864348 PMID:15931785 PMID:17078022 PMID:17309652 PMID:18412368 PMID:18553566 PMID:18704262 PMID:19344236 PMID:19358256 PMID:21249479 PMID:21567126 PMID:21667357 PMID:22589248 PMID:22753364 PMID:24390061 PMID:25086671 PMID:25741868 PMID:25944380 PMID:25963598 PMID:26177859 PMID:26467025 PMID:27132807 PMID:27509835 PMID:27510842 PMID:27748872 PMID:28378289 PMID:28492532, PMID:19143970, PMID:23137636 RGD:11041180, RGD:10045665 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Col1a2 collagen, type I, alpha 2 ISO ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL OMIM
ClinVar
PMID:7695699 PMID:7860070 PMID:8094076 PMID:8218237 PMID:9016532 PMID:9272740 PMID:9594376 PMID:16705691 PMID:17078022 PMID:19344236 PMID:21520333 PMID:22589248 PMID:25326637 PMID:25450603 PMID:25741868 PMID:25944380 PMID:26604951 PMID:27519266 PMID:28492532 NCBI chr 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544
JBrowse link
G Ctsk cathepsin K IMP RGD PMID:10469835 RGD:734856 NCBI chr 3:95,499,210...95,509,387
Ensembl chr 3:95,499,256...95,509,362
JBrowse link
G Cxcr4 chemokine (C-X-C motif) receptor 4 ISO RGD PMID:29882473 RGD:14700776 NCBI chr 1:128,588,199...128,592,299
Ensembl chr 1:128,588,199...128,592,293
JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO DNA:snps:multiple (human) RGD PMID:17002564 RGD:1625350 NCBI chr19:46,667,165...46,673,000
Ensembl chr19:46,667,165...46,673,172
JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO DNA:snps:multiple (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:20723554, PMID:17002564 RGD:1625350 NCBI chr 9:54,165,937...54,268,164
Ensembl chr 9:54,165,937...54,268,110
JBrowse link
G Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22337913 NCBI chr 2:170,482,957...170,497,145
Ensembl chr 2:170,482,708...170,497,145
JBrowse link
G Daam2 dishevelled associated activator of morphogenesis 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30598549 NCBI chr17:49,456,022...49,564,459
Ensembl chr17:49,456,022...49,564,343
JBrowse link
G Dbp D site albumin promoter binding protein ISO RGD PMID:17002564 RGD:1625350 NCBI chr 7:45,705,100...45,710,203
Ensembl chr 7:45,705,088...45,710,203
JBrowse link
G Dspp dentin sialophosphoprotein ISO protein:decreased expression:incisor dental pulp (rat) RGD PMID:23974864 RGD:12911019 NCBI chr 5:104,170,703...104,180,127
Ensembl chr 5:104,170,712...104,180,127
JBrowse link
G Eno1 enolase 1, alpha non-neuron ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 4:150,236,708...150,248,879
Ensembl chr 4:150,236,721...150,248,879
JBrowse link
G Ercc1 excision repair cross-complementing rodent repair deficiency, complementation group 1 IMP RGD PMID:23281008 RGD:10045609 NCBI chr 7:19,344,067...19,356,524
Ensembl chr 7:19,344,778...19,356,524
JBrowse link
G Esr1 estrogen receptor 1 (alpha) no_association
treatment
ISO
IEP
DNA:SNP:intron:397T>C (human)
DNA:repeat:5' utr:g.-1174(TA)10-27 (human)
DNA:SNP:exon:2014G>A (human)
DNA:repeat:intron:IVS5+225(CA)18-25 (human)
DNA:SNPs:intron: (rs2234693, rs9340799) (human)
DNA:SNP, haplotype:intron:g.938C>T (human)
RGD PMID:23137636, PMID:21421090, PMID:17953702, PMID:17953702, PMID:10773580, PMID:16955786, PMID:17896124, PMID:20116372, PMID:16530497 RGD:10045665, RGD:10045841, RGD:10045839, RGD:10045839, RGD:10045834, RGD:8694129, RGD:10045828, RGD:10045826, RGD:10045825 NCBI chr10:4,611,989...5,005,633
Ensembl chr10:4,611,593...5,005,614
JBrowse link
G Esr2 estrogen receptor 2 (beta) susceptibility
treatment
ISO
IEP
DNA:SNP, haplotypes: :-1213T>C (human)
DNA:SNP, haplotype:3'utr:*39A>G (human)
DNA:repeat:3' utr: g.dupCA (human)
RGD PMID:16777502, PMID:21421090, PMID:16530497, PMID:16955786, PMID:22948905 RGD:1626507, RGD:10045841, RGD:10045825, RGD:8694129, RGD:7364765 NCBI chr12:76,120,419...76,177,259
Ensembl chr12:76,120,419...76,177,259
JBrowse link
G Esrra estrogen related receptor, alpha IMP RGD PMID:19936213 RGD:10401868 NCBI chr19:6,910,977...6,922,048
Ensembl chr19:6,910,977...6,921,813
Ensembl chr19:6,910,977...6,921,813
JBrowse link
G Fga fibrinogen alpha chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 3:83,026,153...83,033,627
Ensembl chr 3:83,026,076...83,033,627
JBrowse link
G Fgb fibrinogen beta chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 3:83,042,246...83,049,863
Ensembl chr 3:83,040,141...83,049,863
JBrowse link
G G6pdx glucose-6-phosphate dehydrogenase X-linked ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 ClinVar PMID:5448 PMID:1303173 PMID:1631957 PMID:1978554 PMID:2321910 PMID:2503817 PMID:2572288 PMID:2836867 PMID:3393536 PMID:3446582 PMID:4359638 PMID:4388132 PMID:6015571 PMID:7949118 PMID:8611726 PMID:8860013 PMID:9858856 PMID:10734064 PMID:12367584 PMID:12737938 PMID:14278484 PMID:16356170 PMID:25741868 PMID:26633385 PMID:27287612 PMID:28492532 NCBI chr  X:74,409,483...74,428,880
Ensembl chr  X:74,409,483...74,429,194
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 6:125,161,852...125,166,467
Ensembl chr 6:125,161,715...125,166,467
JBrowse link
G Gh growth hormone ISO associated with Diabetes Mellitus, Experimental RGD PMID:1466160 RGD:10003132 NCBI chr11:106,300,261...106,303,703
Ensembl chr11:106,300,271...106,301,865
JBrowse link
G Ghr growth hormone receptor treatment ISO associated with Uremia;protein:altered expression:osteoblast, osteoclast, chondroblast
associated with Cholestasis
RGD PMID:17647196, PMID:19424739 RGD:10003128, RGD:10003131 NCBI chr15:3,317,755...3,583,352
Ensembl chr15:3,317,760...3,583,492
JBrowse link
G Gorab golgin, RAB6-interacting ISO CTD Direct Evidence: marker/mechanism CTD PMID:18997784 NCBI chr 1:163,384,903...163,403,669
Ensembl chr 1:163,384,908...163,403,669
JBrowse link
G Gpc6 glypican 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28869591 NCBI chr14:116,924,920...117,979,529
Ensembl chr14:116,925,315...117,976,544
JBrowse link
G Gpd2 glycerol phosphate dehydrogenase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 2:57,237,678...57,370,719
Ensembl chr 2:57,237,635...57,370,719
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 9:108,339,080...108,340,342
Ensembl chr 9:108,338,903...108,340,343
JBrowse link
G Gsn gelsolin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 2:35,256,359...35,307,902
Ensembl chr 2:35,256,380...35,307,892
JBrowse link
G Gsr glutathione reductase ISO protein:decreased expression:blood RGD PMID:19464221 RGD:10401828 NCBI chr 8:33,653,238...33,698,162
Ensembl chr 8:33,652,523...33,698,163
JBrowse link
G Gstp1 glutathione S-transferase, pi 1 ISO associated with Cystic Fibrosis;DNA:missense mutation:cds:c.313A>G (p.I105V) (human) RGD PMID:24593045 RGD:10401929 NCBI chr19:4,035,411...4,037,912
Ensembl chr19:4,035,407...4,037,985
JBrowse link
G Hfe homeostatic iron regulator IMP associated with hemochromatosis RGD PMID:26829642 RGD:14746963 NCBI chr13:23,702,034...23,710,854
Ensembl chr13:23,702,034...23,710,854
JBrowse link
G Htr2c 5-hydroxytryptamine (serotonin) receptor 2C ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 ClinVar PMID:24088041 PMID:26633545 NCBI chr  X:146,962,464...147,197,277
Ensembl chr  X:146,962,513...147,197,277
JBrowse link
G Id4 inhibitor of DNA binding 4 IEA OMIM:166710 MouseDO NCBI chr13:48,261,116...48,266,028
Ensembl chr13:48,261,228...48,266,026
JBrowse link
G Idh2 isocitrate dehydrogenase 2 (NADP+), mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 7:80,094,845...80,118,608
Ensembl chr 7:80,094,846...80,115,392
JBrowse link
G Ifngr1 interferon gamma receptor 1 IEA OMIM:166710 MouseDO NCBI chr10:19,591,949...19,610,229
Ensembl chr10:19,591,949...19,610,229
JBrowse link
G Igf1 insulin-like growth factor 1 treatment IEP
ISO
associated with Diabetes Mellitus, Experimental
associated with Cholestasis
associated with Uremia;protein:altered expression:osteoblast, osteoclast, chondroblast
RGD PMID:10499542, PMID:1466160, PMID:19424739, PMID:17647196 RGD:10003127, RGD:10003132, RGD:10003131, RGD:10003128 NCBI chr10:87,858,265...87,937,047
Ensembl chr10:87,858,265...87,937,042
JBrowse link
G Igf1r insulin-like growth factor I receptor ISO RGD PMID:18079194 RGD:10045888 NCBI chr 7:67,952,257...68,233,668
Ensembl chr 7:67,952,827...68,233,668
JBrowse link
G Igf2 insulin-like growth factor 2 treatment ISO RGD PMID:12162999 RGD:10402555 NCBI chr 7:142,650,768...142,666,816
Ensembl chr 7:142,650,766...142,666,816
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:decreased expression:serum RGD PMID:9284698 RGD:10402579 NCBI chr11:7,206,086...7,215,498
Ensembl chr11:7,206,086...7,213,923
JBrowse link
G Il13ra2 interleukin 13 receptor, alpha 2 ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 ClinVar PMID:24088041 PMID:26633545 NCBI chr  X:147,383,478...147,429,192
Ensembl chr  X:147,383,476...147,429,192
JBrowse link
G Il1a interleukin 1 alpha ISO associated with Arthritis, Rheumatoid RGD PMID:10555884 RGD:6907107 NCBI chr 2:129,299,609...129,310,186
Ensembl chr 2:129,299,610...129,309,972
JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:22997530 RGD:7204491 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G Il1rn interleukin 1 receptor antagonist treatment ISO human protein in a rat model RGD PMID:8182127 RGD:8551834 NCBI chr 2:24,336,860...24,351,491
Ensembl chr 2:24,336,853...24,351,494
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15995586 NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Il6ra interleukin 6 receptor, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15995586 NCBI chr 3:89,869,324...89,913,196
Ensembl chr 3:89,864,059...89,913,196
JBrowse link
G Irak3 interleukin-1 receptor-associated kinase 3 IEA OMIM:166710 MouseDO NCBI chr10:120,141,648...120,202,130
Ensembl chr10:120,141,648...120,202,130
JBrowse link
G Irs1 insulin receptor substrate 1 ISO mRNA, protein:decreased expression:multiple RGD PMID:22820932 RGD:7207063 NCBI chr 1:82,233,105...82,291,439
Ensembl chr 1:82,233,112...82,235,933
Ensembl chr 1:82,233,112...82,235,933
JBrowse link
G Irs2 insulin receptor substrate 2 ISO associated with Diabetes Mellitus, Type 2; protein:decreased expression:liver,kidney, muscle: RGD PMID:22820932 RGD:7207063 NCBI chr 8:10,984,681...11,008,929
Ensembl chr 8:10,984,681...11,008,458
JBrowse link
G Kl klotho IMP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:9363890, PMID:9363890 RGD:10403047 NCBI chr 5:150,952,607...150,993,817
Ensembl chr 5:150,952,607...150,993,817
JBrowse link
G Lep leptin treatment ISO associated with chronic obstructive pulmonary disease; protein:decreased expression:serum
human protein in a rat model
protein:increased expression:serum (rat)
RGD PMID:21376149, PMID:11459801, PMID:12609558, PMID:24250662 RGD:5128771, RGD:10053630, RGD:10053615, RGD:10053572 NCBI chr 6:29,060,221...29,073,876
Ensembl chr 6:29,060,220...29,073,877
JBrowse link
G Lepr leptin receptor susceptibility ISO DNA:polymorphisms:cds:p.K109R,Q223R(human) RGD PMID:23460508 RGD:10411886 NCBI chr 4:101,717,137...101,815,352
Ensembl chr 4:101,717,404...101,815,352
JBrowse link
G Lgr4 leucine-rich repeat-containing G protein-coupled receptor 4 susceptibility ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 17
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:23644456 NCBI chr 2:109,917,647...110,014,257
Ensembl chr 2:109,917,647...110,014,257
JBrowse link
G Lrch2 leucine-rich repeats and calponin homology (CH) domain containing 2 ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 ClinVar PMID:24088041 PMID:26633545 NCBI chr  X:147,470,375...147,554,103
Ensembl chr  X:147,470,375...147,554,081
JBrowse link
G Lrp5 low density lipoprotein receptor-related protein 5 treatment ISO ClinVar Annotator: match by term: Osteoporosis
ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 1
ClinVar Annotator: match by term: High bone mass
ClinVar Annotator: match by OMIM:166710
ClinVar
OMIM
PMID:11741193 PMID:11793484 PMID:12015390 PMID:12579474 PMID:14727154 PMID:15077203 PMID:15141052 PMID:15767861 PMID:16679074 PMID:17052975 PMID:17137849 PMID:17223614 PMID:17306638 PMID:17395706 PMID:17505772 PMID:18588671 PMID:25741868 PMID:26467025 PMID:28492532, PMID:17002564, PMID:22704852, PMID:21977807 RGD:1625350, RGD:7240519, RGD:12793063 NCBI chr19:3,584,825...3,686,585
Ensembl chr19:3,584,828...3,686,564
JBrowse link
G Ltf lactotransferrin ISO CTD Direct Evidence: therapeutic CTD PMID:16648989 PMID:16936800 NCBI chr 9:111,019,292...111,042,766
Ensembl chr 9:111,019,271...111,042,767
JBrowse link
G Ly6a lymphocyte antigen 6 complex, locus A IEA OMIM:166710 MouseDO NCBI chr15:74,994,877...74,998,031
Ensembl chr15:74,994,877...74,998,031
JBrowse link
G Mapk14 mitogen-activated protein kinase 14 treatment ISO RGD PMID:18442314 RGD:10045965 NCBI chr17:28,691,342...28,748,405
Ensembl chr17:28,691,329...28,748,406
JBrowse link
G Mgll monoglyceride lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 6:88,724,412...88,828,360
Ensembl chr 6:88,724,412...88,828,360
JBrowse link
G Mir152 microRNA 152 ISO miRNA:increased expression:femur RGD PMID:31492082 RGD:21066345 NCBI chr11:96,850,393...96,850,465
Ensembl chr11:96,850,393...96,850,465
JBrowse link
G Mir2861 microRNA 2861 ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 15 OMIM
ClinVar
PMID:19920351 NCBI chr 2:32,712,807...32,712,888
Ensembl chr 2:32,712,807...32,712,888
JBrowse link
G Mir448 microRNA 448 ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 ClinVar PMID:24088041 PMID:26633545 NCBI chr  X:147,158,210...147,158,321
Ensembl chr  X:147,158,210...147,158,321
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO associated with osteoporosis; protein:increased expression:serum RGD PMID:19411568 RGD:5129553 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Myc myelocytomatosis oncogene ISO RGD PMID:22704852 RGD:7240519 NCBI chr15:61,985,341...61,990,361
Ensembl chr15:61,985,391...61,990,374
JBrowse link
G Nog noggin IMP RGD PMID:12975477 RGD:10414323 NCBI chr11:89,300,638...89,302,559
Ensembl chr11:89,300,638...89,302,332
JBrowse link
G Nrip1 nuclear receptor interacting protein 1 ISO DNA:silent mutation, haplotype:p.G75G (human) RGD PMID:16530497 RGD:10045825 NCBI chr16:76,287,403...76,373,827
Ensembl chr16:76,287,400...76,373,827
JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Osteoporosis ClinVar PMID:25741868 NCBI chr16:29,579,281...29,663,127
Ensembl chr16:29,579,334...29,654,884
JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr15:4,026,428...4,155,344
Ensembl chr15:4,026,383...4,155,344
JBrowse link
G P4hb prolyl 4-hydroxylase, beta polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr11:120,560,298...120,573,253
Ensembl chr11:120,560,298...120,573,253
JBrowse link
G Park7 Parkinson disease (autosomal recessive, early onset) 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 4:150,897,133...150,909,921
Ensembl chr 4:150,897,133...150,914,437
JBrowse link
G Pcna proliferating cell nuclear antigen ISO protein:increased expression:osteoblast: RGD PMID:22550338 RGD:10045656 NCBI chr 2:132,249,286...132,253,180
Ensembl chr 2:132,249,162...132,253,314
JBrowse link
G Pdlim4 PDZ and LIM domain 4 ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 15 ClinVar
OMIM
PMID:12908099 NCBI chr11:54,054,928...54,069,032
Ensembl chr11:54,054,928...54,069,014
JBrowse link
G Pgls 6-phosphogluconolactonase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 8:71,592,184...71,596,267
Ensembl chr 8:71,592,176...71,601,092
JBrowse link
G Pkm pyruvate kinase, muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 9:59,656,576...59,679,372
Ensembl chr 9:59,656,368...59,679,375
JBrowse link
G Plek pleckstrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr11:16,971,206...17,008,718
Ensembl chr11:16,971,206...17,052,381
JBrowse link
G Pls3 plastin 3 (T-isoform) ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 ClinVar
OMIM
PMID:24088041 PMID:24088043 PMID:26633545 NCBI chr  X:75,785,653...75,875,182
Ensembl chr  X:75,785,654...75,875,182
JBrowse link
G Pnp2 purine-nucleoside phosphorylase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr14:50,956,141...50,964,751
Ensembl chr14:50,955,992...50,964,749
JBrowse link
G Pomc pro-opiomelanocortin-alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:3017235 PMID:4367732 PMID:6143199 PMID:6254450 PMID:19153526 NCBI chr12:3,954,945...3,960,643
Ensembl chr12:3,954,951...3,960,642
JBrowse link
G Prdx3 peroxiredoxin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr19:60,864,066...60,874,538
Ensembl chr19:60,864,051...60,874,556
JBrowse link
G Psma2 proteasome subunit alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr13:14,613,242...14,625,673
Ensembl chr13:14,613,240...14,674,236
JBrowse link
G Psma5 proteasome subunit alpha 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 3:108,256,926...108,279,952
Ensembl chr 3:108,256,926...108,279,974
JBrowse link
G Ptger4 prostaglandin E receptor 4 (subtype EP4) treatment ISO RGD PMID:16442794 RGD:10043381 NCBI chr15:5,233,399...5,244,187
Ensembl chr15:5,206,661...5,244,187
JBrowse link
G Pth parathyroid hormone treatment ISO CTD Direct Evidence: therapeutic
protein:decreased expression:serum (rat)
CTD PMID:15710971 PMID:17317460 PMID:17882678 PMID:19578808 PMID:21306167 PMID:30639440, PMID:23161222, PMID:22312238 RGD:7242793, RGD:7242907 NCBI chr 7:113,385,576...113,388,672
Ensembl chr 7:113,385,580...113,388,570
JBrowse link
G Rab7b RAB7B, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 1:131,688,681...131,715,443
Ensembl chr 1:131,688,695...131,715,439
JBrowse link
G Ren1 renin 1 structural ISO CTD Direct Evidence: marker/mechanism CTD PMID:18847324 NCBI chr 1:133,350,674...133,360,320
Ensembl chr 1:133,350,510...133,360,325
JBrowse link
G Rsu1 Ras suppressor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 2:13,076,967...13,271,438
Ensembl chr 2:13,076,821...13,271,415
JBrowse link
G Ryr1 ryanodine receptor 1, skeletal muscle ISO ClinVar Annotator: match by term: Osteoporosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:29,003,340...29,125,179
Ensembl chr 7:29,003,344...29,125,179
JBrowse link
G Sirt1 sirtuin 1 treatment ISO RGD PMID:22555620, PMID:25377437 RGD:10047129, RGD:10053568 NCBI chr10:63,319,005...63,339,035
Ensembl chr10:63,319,005...63,381,704
JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial susceptibility
no_association
ISO DNA:SNPs:intron, exon:g.31A>G, g.327C>T (p.A16V) (rs5746094, rs4880) (human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs:5' utr, exon, intron:multiple
CTD PMID:18924182, PMID:26336112, PMID:26336112 RGD:11035299, RGD:11035299 NCBI chr17:13,007,839...13,018,119
Ensembl chr17:13,006,846...13,040,063
JBrowse link
G Terc telomerase RNA component IEA OMIM:166710 MouseDO NCBI chr 3:96,414,437...96,414,833
Ensembl chr 3:96,414,437...96,414,859
Ensembl chr 3:96,414,437...96,414,859
JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment ISO associated with Uremia;protein:increased expression:osteoblast, osteoclast
CTD Direct Evidence: marker/mechanism
CTD PMID:12706579, PMID:17647196 RGD:10003128 NCBI chr 7:25,687,002...25,705,077
Ensembl chr 7:25,687,002...25,705,077
JBrowse link
G Tln1 talin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 4:43,531,513...43,562,583
Ensembl chr 4:43,531,519...43,562,691
JBrowse link
G Tnfrsf11a tumor necrosis factor receptor superfamily, member 11a, NFKB activator ISO RGD PMID:17002564 RGD:1625350 NCBI chr 1:105,780,673...105,849,444
Ensembl chr 1:105,780,718...105,847,981
JBrowse link
G Tnfrsf11b tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin) ISO CTD Direct Evidence: marker/mechanism CTD PMID:17667143 NCBI chr15:54,250,619...54,278,484
Ensembl chr15:54,250,619...54,278,484
JBrowse link
G Tnfrsf1b tumor necrosis factor receptor superfamily, member 1b ISO RGD PMID:17002564 RGD:1625350 NCBI chr 4:145,212,368...145,246,870
Ensembl chr 4:145,213,463...145,246,870
JBrowse link
G Tnfsf11 tumor necrosis factor (ligand) superfamily, member 11 ISO
IEA
OMIM:166710
CTD Direct Evidence: therapeutic
MouseDO
CTD
PMID:17882678, PMID:17002564 RGD:1625350 NCBI chr14:78,277,446...78,308,043
Ensembl chr14:78,277,445...78,308,043
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 6:124,810,586...124,814,158
Ensembl chr 6:124,810,586...124,814,296
JBrowse link
G Tpm4 tropomyosin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 8:72,135,288...72,153,142
Ensembl chr 8:72,130,174...72,153,142
JBrowse link
G Tuba1b tubulin, alpha 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr15:98,931,429...98,934,390
Ensembl chr15:98,931,425...98,934,565
JBrowse link
G Tuba1c tubulin, alpha 1C ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr15:99,029,891...99,038,105
Ensembl chr15:99,029,891...99,038,110
JBrowse link
G U2af1 U2 small nuclear ribonucleoprotein auxiliary factor (U2AF) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr17:31,647,081...31,659,148
Ensembl chr17:31,647,081...31,658,892
JBrowse link
G Ugt2b1 UDP glucuronosyltransferase 2 family, polypeptide B1 ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 12 ClinVar
OMIM
PMID:18992858 NCBI chr 5:86,916,639...86,926,503
Ensembl chr 5:86,916,638...86,926,530
JBrowse link
G Vcl vinculin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr14:20,929,383...21,033,676
Ensembl chr14:20,929,398...21,033,676
JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor no_association ISO
IEA
associated with Cystic Fibrosis
OMIM:166710
MouseDO PMID:16713399 RGD:4889871 NCBI chr15:97,854,427...97,908,296
Ensembl chr15:97,854,425...97,910,630
JBrowse link
G Wdr1 WD repeat domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 5:38,526,806...38,562,922
Ensembl chr 5:38,526,813...38,563,221
JBrowse link
G Wnt1 wingless-type MMTV integration site family, member 1 susceptibility ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 16
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:23499309 PMID:23656646 NCBI chr15:98,789,857...98,793,830
Ensembl chr15:98,789,857...98,793,837
JBrowse link
G Zdhhc13 zinc finger, DHHC domain containing 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20548961 NCBI chr 7:48,788,998...48,827,440
Ensembl chr 7:48,789,003...48,827,440
JBrowse link
hypophosphatemic nephrolithiasis/osteoporosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F12 coagulation factor XII (Hageman factor) ISO ClinVar Annotator: match by term: Hypophosphatemic Nephrolithiasis/Osteoporosis
ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic
ClinVar PMID:8528215 PMID:9354665 PMID:21920016 PMID:23348723 PMID:24029428 PMID:24033266 PMID:25524745 PMID:25741868 PMID:28492532 NCBI chr13:55,417,958...55,426,804
Ensembl chr13:55,417,958...55,426,793
JBrowse link
G Slc34a1 solute carrier family 34 (sodium phosphate), member 1 ISO ClinVar Annotator: match by term: Hypophosphatemic Nephrolithiasis/Osteoporosis
ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic
ClinVar PMID:8528215 PMID:9354665 PMID:21920016 PMID:23348723 PMID:24029428 PMID:24033266 PMID:25524745 PMID:25741868 PMID:28492532 NCBI chr13:55,399,622...55,414,695
Ensembl chr13:55,398,187...55,415,592
JBrowse link
hypophosphatemic nephrolithiasis/osteoporosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F12 coagulation factor XII (Hageman factor) ISO ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic, 1 ClinVar PMID:28492532 NCBI chr13:55,417,958...55,426,804
Ensembl chr13:55,417,958...55,426,793
JBrowse link
G Slc34a1 solute carrier family 34 (sodium phosphate), member 1 ISO ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic, 1
ClinVar Annotator: match by OMIM:612286
OMIM
ClinVar
PMID:12324554 PMID:16688119 PMID:24033266 PMID:25082825 PMID:25741868 PMID:26047794 PMID:26272126 PMID:27378183 PMID:28492532 PMID:28893421 NCBI chr13:55,399,622...55,414,695
Ensembl chr13:55,398,187...55,415,592
JBrowse link
hypophosphatemic nephrolithiasis/osteoporosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc9a3r1 solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1 ISO ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic, 2
ClinVar Annotator: match by OMIM:612287
OMIM
ClinVar
PMID:18784102 PMID:24033266 PMID:25326635 PMID:25741868 PMID:28492532 PMID:28893421 NCBI chr11:115,163,341...115,181,178
Ensembl chr11:115,163,341...115,181,181
JBrowse link
idiopathic juvenile osteoporosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp5 low density lipoprotein receptor-related protein 5 ISO DNA:mutations:exon:c.3446 T > A (p.L1149Q),c.3553 G > A (p.G1185R)(human) RGD PMID:22487062 RGD:12793058 NCBI chr19:3,584,825...3,686,585
Ensembl chr19:3,584,828...3,686,564
JBrowse link
Postmenopausal Osteoporosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp5 acid phosphatase 5, tartrate resistant ISO protein:increased expression:femur (rat) RGD PMID:19736603 RGD:2315910 NCBI chr 9:22,126,727...22,135,746
Ensembl chr 9:22,126,727...22,135,711
JBrowse link
G Ar androgen receptor ISO RGD PMID:12593895 RGD:1578682 NCBI chr  X:98,148,757...98,323,218
Ensembl chr  X:98,148,769...98,323,215
JBrowse link
G Bmp15 bone morphogenetic protein 15 susceptibility ISO DNA:SNPs, haplotype:5' utr, intron:g.-9C>G, IVS1+905A>G (human) RGD PMID:22335445 RGD:10045849 NCBI chr  X:6,314,054...6,320,724
Ensembl chr  X:6,314,107...6,320,721
JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17227729 NCBI chr 2:103,453,904...103,485,153
Ensembl chr 2:103,453,849...103,485,160
JBrowse link
G Col1a1 collagen, type I, alpha 1 ISO ClinVar Annotator: match by term: Postmenopausal osteoporosis ClinVar PMID:2037280 PMID:7695699 PMID:7942841 PMID:8218237 PMID:8408653 PMID:8613526 PMID:8669434 PMID:8808594 PMID:9016532 PMID:9067755 PMID:9295084 PMID:9443882 PMID:10931857 PMID:12590186 PMID:15024692 PMID:15024745 PMID:15741671 PMID:15864348 PMID:15931785 PMID:17078022 PMID:17309652 PMID:18412368 PMID:18553566 PMID:18704262 PMID:19344236 PMID:19358256 PMID:21249479 PMID:21567126 PMID:21667357 PMID:22589248 PMID:22753364 PMID:24390061 PMID:25086671 PMID:25741868 PMID:25944380 PMID:25963598 PMID:26177859 PMID:26467025 PMID:27132807 PMID:27509835 PMID:27510842 PMID:27748872 PMID:28378289 PMID:28492532 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Col1a2 collagen, type I, alpha 2 ISO ClinVar Annotator: match by term: Postmenopausal osteoporosis ClinVar PMID:1463018 PMID:1978725 PMID:2052622 PMID:2985635 PMID:7695699 PMID:7860070 PMID:8094076 PMID:8218237 PMID:8786074 PMID:9016532 PMID:9272740 PMID:9399846 PMID:9594376 PMID:9923651 PMID:15172002 PMID:16705691 PMID:17078022 PMID:18028452 PMID:19344236 PMID:21520333 PMID:22589248 PMID:25326637 PMID:25450603 PMID:25741868 PMID:25944380 PMID:26432670 PMID:26604951 PMID:27519266 PMID:28492532 NCBI chr 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544
JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO DNA:snps:exon:multiple (human) RGD PMID:17118999 RGD:1600860 NCBI chr 9:54,165,937...54,268,164
Ensembl chr 9:54,165,937...54,268,110
JBrowse link
G Esr1 estrogen receptor 1 (alpha) treatment
susceptibility
ISO DNA:SNP:intron:IVS1T>C (human)
DNA:SNPs, haplotype:intron: (rs2234693, rs9340799) (human)
RGD PMID:16604479, PMID:16972020 RGD:8158082, RGD:10045838 NCBI chr10:4,611,989...5,005,633
Ensembl chr10:4,611,593...5,005,614
JBrowse link
G Esr2 estrogen receptor 2 (beta) susceptibility ISO DNA:SNP: :-1213T>C (human)
DNA:SNP, haplotype:3'utr:*39A>G (human)
DNA:repeat:intron:IVS5-3919(CA)18-26 (human)
RGD PMID:16777502, PMID:22335445, PMID:17945165 RGD:1626507, RGD:10045849, RGD:10045847 NCBI chr12:76,120,419...76,177,259
Ensembl chr12:76,120,419...76,177,259
JBrowse link
G Fdps farnesyl diphosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:31774873 NCBI chr 3:89,093,588...89,101,967
Ensembl chr 3:89,093,588...89,101,959
JBrowse link
G Fgf23 fibroblast growth factor 23 ISO protein:increased expression: : RGD PMID:24101107 RGD:10044241 NCBI chr 6:127,072,902...127,082,296
Ensembl chr 6:127,072,902...127,081,408
JBrowse link
G Hif1a hypoxia inducible factor 1, alpha subunit treatment ISO
IMP
RGD PMID:24023068, PMID:18067744 RGD:10402191, RGD:10402540 NCBI chr12:73,901,324...73,947,554
Ensembl chr12:73,901,375...73,947,530
JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:decreased expression:serum: RGD PMID:11063288 RGD:10045861 NCBI chr10:87,858,265...87,937,047
Ensembl chr10:87,858,265...87,937,042
JBrowse link
G Igf2 insulin-like growth factor 2 treatment ISO RGD PMID:16753016 RGD:10402556 NCBI chr 7:142,650,768...142,666,816
Ensembl chr 7:142,650,766...142,666,816
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032749 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032749 NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Il7 interleukin 7 treatment IEP RGD PMID:23662133 RGD:10402930 NCBI chr 3:7,572,028...7,613,760
Ensembl chr 3:7,569,994...7,613,760
JBrowse link
G Lrp5 low density lipoprotein receptor-related protein 5 ISO ClinVar Annotator: match by term: Postmenopausal osteoporosis ClinVar PMID:25741868 PMID:28492532 NCBI chr19:3,584,825...3,686,585
Ensembl chr19:3,584,828...3,686,564
JBrowse link
G Nrip1 nuclear receptor interacting protein 1 susceptibility ISO DNA:silent mutation:cds:p.G75G (human) RGD PMID:22335445 RGD:10045849 NCBI chr16:76,287,403...76,373,827
Ensembl chr16:76,287,400...76,373,827
JBrowse link
G Ptger4 prostaglandin E receptor 4 (subtype EP4) treatment ISO RGD PMID:11917107 RGD:10003045 NCBI chr15:5,233,399...5,244,187
Ensembl chr15:5,206,661...5,244,187
JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: therapeutic CTD PMID:20567999 NCBI chr 7:113,385,576...113,388,672
Ensembl chr 7:113,385,580...113,388,570
JBrowse link
G Ptk2b PTK2 protein tyrosine kinase 2 beta ISO RGD PMID:17537919 RGD:1642610 NCBI chr14:66,153,257...66,281,100
Ensembl chr14:66,153,257...66,281,052
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10750555 NCBI chr 7:25,687,002...25,705,077
Ensembl chr 7:25,687,002...25,705,077
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032749 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor treatment ISO ClinVar Annotator: match by term: Postmenopausal osteoporosis
DNA:SNP:exon: (rs2228570) (human)
ClinVar PMID:25741868, PMID:15118671, PMID:16604479 RGD:1331525, RGD:8158082 NCBI chr15:97,854,427...97,908,296
Ensembl chr15:97,854,425...97,910,630
JBrowse link
Singleton Merten Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:62,595,618...62,646,255
Ensembl chr 2:62,595,798...62,646,255
JBrowse link
Singleton-Merten Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Singleton-Merten syndrome 1 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:21070929 PMID:24686847 PMID:24995871 PMID:25620204 PMID:25741868 PMID:28166811 PMID:28319323 PMID:28492532 PMID:29270977 PMID:30219631 PMID:30707351 NCBI chr 2:62,595,618...62,646,255
Ensembl chr 2:62,595,798...62,646,255
JBrowse link
Singleton-Merten Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddx58 DEAD/H box helicase 58 ISO ClinVar Annotator: match by term: Singleton-Merten syndrome 2 ClinVar
OMIM
PMID:25620203 PMID:25741868 NCBI chr 4:40,203,777...40,239,825
Ensembl chr 4:40,203,773...40,239,828
JBrowse link
Winchester syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp14 matrix metallopeptidase 14 (membrane-inserted) ISO ClinVar Annotator: match by term: Winchester syndrome ClinVar
OMIM
PMID:4238825 PMID:22922033 PMID:25741868 NCBI chr14:54,431,598...54,442,456
Ensembl chr14:54,431,612...54,445,364
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14269
    Diseases of the Aged 1089
      osteoporosis 141
        Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 0
        Diabetic Bone Disease 0
        Female Athlete Triad Syndrome 0
        Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 0
        Hernandez Fragoso Syndrome 0
        Infantile Multisystem Neurologic Disease with Osseous Fragility 0
        Macroepiphyseal Dysplasia, McAlister Coe Type 0
        Postmenopausal Osteoporosis 25
        Prader-Willi Habitus, Osteopenia, and Camptodactyly 0
        Premature Aging, Okamoto Type 0
        Singleton Merten Syndrome + 2
        Winchester syndrome 1
        glucocorticoid-induced osteoporosis 0
        hypophosphatemic nephrolithiasis/osteoporosis + 3
        idiopathic juvenile osteoporosis 1
Path 2
Term Annotations click to browse term
  disease 14269
    disease of anatomical entity 13873
      Skin and Connective Tissue Diseases 5146
        connective tissue disease 4001
          bone disease 2676
            bone remodeling disease 237
              bone resorption disease 166
                osteoporosis 141
                  Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 0
                  Diabetic Bone Disease 0
                  Female Athlete Triad Syndrome 0
                  Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 0
                  Hernandez Fragoso Syndrome 0
                  Infantile Multisystem Neurologic Disease with Osseous Fragility 0
                  Macroepiphyseal Dysplasia, McAlister Coe Type 0
                  Postmenopausal Osteoporosis 25
                  Prader-Willi Habitus, Osteopenia, and Camptodactyly 0
                  Premature Aging, Okamoto Type 0
                  Singleton Merten Syndrome + 2
                  Winchester syndrome 1
                  glucocorticoid-induced osteoporosis 0
                  hypophosphatemic nephrolithiasis/osteoporosis + 3
                  idiopathic juvenile osteoporosis 1
paths to the root