Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
osteoporosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO RGD PMID:10700189 RGD:10047094 NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,016...130,887,675
JBrowse link
G ACE angiotensin I converting enzyme ISO associated with Hypertension RGD PMID:19590507 RGD:2325225 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G ACTG1 actin gamma 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr17:81,509,971...81,512,799
Ensembl chr17:81,509,971...81,523,847
Ensembl chr17:81,509,971...81,523,847
JBrowse link
G ADCY5 adenylate cyclase 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18029912 NCBI chr 3:123,282,296...123,449,090
Ensembl chr 3:123,282,296...123,449,090
Ensembl chr 3:123,282,296...123,449,090
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 6:32,180,969...32,184,380
Ensembl chr 6:32,180,968...32,184,322
JBrowse link
G ANTXR2 ANTXR cell adhesion molecule 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12973667 NCBI chr 4:79,901,146...80,073,472
Ensembl chr 4:79,901,146...80,125,454
JBrowse link
G ANXA2 annexin A2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr15:60,347,151...60,398,025
Ensembl chr15:60,347,134...60,402,883
JBrowse link
G AR androgen receptor treatment ISO RGD PMID:14600402, PMID:18847323 RGD:10043196, RGD:10043198 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619
JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase EXP CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 2:215,311,974...215,359,745
Ensembl chr 2:215,311,956...215,349,773
JBrowse link
G ATM ATM serine/threonine kinase ISO RGD PMID:16644862 RGD:10047420 NCBI chr11:108,222,484...108,369,102
Ensembl chr11:108,222,832...108,369,102
Ensembl chr11:108,222,832...108,369,102
JBrowse link
G ATP4B ATPase H+/K+ transporting subunit beta treatment ISO RGD PMID:26869358 RGD:14696735 NCBI chr13:113,648,804...113,658,198
Ensembl chr13:113,648,804...113,658,198
JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:22648569 RGD:10054093 NCBI chr19:48,954,825...48,961,798
Ensembl chr19:48,954,815...48,961,798
JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO RGD PMID:22648569 RGD:10054093 NCBI chr18:63,123,346...63,320,280
Ensembl chr18:63,123,346...63,320,128
JBrowse link
G BGLAP bone gamma-carboxyglutamate protein susceptibility ISO
IAGP
IEP
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 1:156,242,184...156,243,317
Ensembl chr 1:156,242,184...156,243,317
JBrowse link
G BMP2 bone morphogenetic protein 2 IAGP RGD PMID:17002564 RGD:1625350 NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246
JBrowse link
G CA2 carbonic anhydrase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493
JBrowse link
G CALCA calcitonin related polypeptide alpha IAGP RGD PMID:2502220 RGD:734677 NCBI chr11:14,966,668...14,972,361
Ensembl chr11:14,966,668...14,972,354
Ensembl chr11:14,966,668...14,972,354
JBrowse link
G CALCR calcitonin receptor susceptibility IAGP DNA:SNP:cds:g.1340T>C (human)
ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 15
ClinVar
OMIM
PMID:9003491 PMID:9571205 PMID:9817931, PMID:23137636 RGD:10045665 NCBI chr 7:93,424,486...93,574,724
Ensembl chr 7:93,424,486...93,574,730
Ensembl chr 7:93,424,486...93,574,730
JBrowse link
G CAP1 cyclase associated actin cytoskeleton regulatory protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 1:40,040,240...40,072,648
Ensembl chr 1:40,040,233...40,072,649
JBrowse link
G CCT2 chaperonin containing TCP1 subunit 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr12:69,585,459...69,601,570
Ensembl chr12:69,585,426...69,601,570
JBrowse link
G CIITA class II major histocompatibility complex transactivator ISS OMIM:166710 MouseDO NCBI chr16:10,866,208...10,941,562
Ensembl chr16:10,866,222...10,943,021
JBrowse link
G CLEC11A C-type lectin domain containing 11A EXP CTD Direct Evidence: marker/mechanism CTD PMID:27976999 NCBI chr19:50,723,364...50,725,708
Ensembl chr19:50,723,364...50,725,718
JBrowse link
G COL1A1 collagen type I alpha 1 chain susceptibility IAGP DNA:SNP, haplotype:intron:g.2046G>T (human)
ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL
associated with Beta-Thalassemia;DNA:SNP:intron:g.2046G>T (human)
ClinVar
OMIM
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:23137636, PMID:19143970 RGD:10045665, RGD:11041180 NCBI chr17:50,184,096...50,201,649
Ensembl chr17:50,183,289...50,201,632
Ensembl chr17:50,183,289...50,201,632
JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP 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 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
JBrowse link
G CTSK cathepsin K ISO RGD PMID:10469835 RGD:734856 NCBI chr 1:150,796,208...150,808,260
Ensembl chr 1:150,796,208...150,808,260
Ensembl chr 1:150,796,208...150,808,260
JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 IDA RGD PMID:29882473 RGD:14700776 NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,118,149
JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 IAGP DNA:snps:multiple (human) RGD PMID:17002564 RGD:1625350 NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472
JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 IAGP
EXP
DNA:snps:multiple (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:20723554, PMID:17002564 RGD:1625350 NCBI chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601
JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22337913 NCBI chr20:54,145,731...54,174,032
Ensembl chr20:54,153,446...54,173,986
JBrowse link
G DAAM2 dishevelled associated activator of morphogenesis 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30598549 NCBI chr 6:39,792,366...39,904,870
Ensembl chr 6:39,792,298...39,904,877
JBrowse link
G DBP D-box binding PAR bZIP transcription factor IAGP RGD PMID:17002564 RGD:1625350 NCBI chr19:48,630,030...48,637,379
Ensembl chr19:48,630,030...48,637,379
JBrowse link
G DSPP dentin sialophosphoprotein ISO protein:decreased expression:incisor dental pulp (rat) RGD PMID:23974864 RGD:12911019 NCBI chr 4:87,608,529...87,616,873
Ensembl chr 4:87,608,529...87,616,873
JBrowse link
G ENO1 enolase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 1:8,861,000...8,878,686
Ensembl chr 1:8,861,000...8,879,190
JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO RGD PMID:23281008 RGD:10045609 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,333...45,478,828
Ensembl chr19:45,407,333...45,478,828
JBrowse link
G ESR1 estrogen receptor 1 no_association
treatment
IAGP
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 chr 6:151,654,148...152,129,619
Ensembl chr 6:151,656,691...152,129,619
JBrowse link
G ESR2 estrogen receptor 2 susceptibility
treatment
IAGP
ISO
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 chr14:64,226,707...64,338,631
Ensembl chr14:64,084,232...64,338,112
JBrowse link
G ESRRA estrogen related receptor alpha ISO RGD PMID:19936213 RGD:10401868 NCBI chr11:64,305,524...64,316,743
Ensembl chr11:64,305,497...64,316,743
Ensembl chr11:64,305,497...64,316,743
JBrowse link
G FGA fibrinogen alpha chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,128...154,590,745
JBrowse link
G FGB fibrinogen beta chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 4:154,562,980...154,572,807
Ensembl chr 4:154,563,011...154,572,807
Ensembl chr 4:154,563,011...154,572,807
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase IAGP 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:154,531,390...154,547,569
Ensembl chr  X:154,531,391...154,547,572
JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase EXP CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr12:6,534,517...6,538,371
Ensembl chr12:6,534,512...6,538,374
JBrowse link
G GH1 growth hormone 1 ISO associated with Diabetes Mellitus, Experimental RGD PMID:1466160 RGD:10003132 NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839
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 chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878
JBrowse link
G GORAB golgin, RAB6 interacting EXP CTD Direct Evidence: marker/mechanism CTD PMID:18997784 NCBI chr 1:170,532,134...170,553,834
Ensembl chr 1:170,532,131...170,553,834
Ensembl chr 1:170,532,131...170,553,834
JBrowse link
G GPC6 glypican 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28869591 NCBI chr13:93,226,807...94,408,020
Ensembl chr13:93,226,807...94,408,020
JBrowse link
G GPD2 glycerol-3-phosphate dehydrogenase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 2:156,435,290...156,586,403
Ensembl chr 2:156,435,290...156,613,735
JBrowse link
G GPX1 glutathione peroxidase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,176...49,358,358
Ensembl chr 3:49,357,176...49,358,358
JBrowse link
G GSN gelsolin EXP CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 9:121,201,483...121,332,844
Ensembl chr 9:121,207,794...121,332,843
JBrowse link
G GSR glutathione-disulfide reductase IEP protein:decreased expression:blood RGD PMID:19464221 RGD:10401828 NCBI chr 8:30,678,066...30,727,846
Ensembl chr 8:30,678,066...30,727,846
JBrowse link
G GSTP1 glutathione S-transferase pi 1 IAGP associated with Cystic Fibrosis;DNA:missense mutation:cds:c.313A>G (p.I105V) (human) RGD PMID:24593045 RGD:10401929 NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656
Ensembl chr11:67,583,742...67,586,656
JBrowse link
G HFE homeostatic iron regulator ISO associated with hemochromatosis RGD PMID:26829642 RGD:14746963 NCBI chr 6:26,087,347...26,098,343
Ensembl chr 6:26,087,281...26,098,343
JBrowse link
G HTR2C 5-hydroxytryptamine receptor 2C IAGP ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 ClinVar PMID:24088041 PMID:26633545 NCBI chr  X:114,584,086...114,910,061
Ensembl chr  X:114,584,078...114,910,061
JBrowse link
G ID4 inhibitor of DNA binding 4, HLH protein ISS OMIM:166710 MouseDO NCBI chr 6:19,837,370...19,842,197
Ensembl chr 6:19,837,370...19,842,197
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,504
Ensembl chr15:90,083,045...90,102,504
JBrowse link
G IFNGR1 interferon gamma receptor 1 ISS OMIM:166710 MouseDO NCBI chr 6:137,197,484...137,220,351
Ensembl chr 6:137,197,484...137,219,449
Ensembl chr 6:137,197,484...137,219,449
JBrowse link
G IGF1 insulin like growth factor 1 treatment 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 chr12:102,395,860...102,481,839
Ensembl chr12:102,395,874...102,481,744
JBrowse link
G IGF1R insulin like growth factor 1 receptor IDA RGD PMID:18079194 RGD:10045888 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530
JBrowse link
G IGF2 insulin like growth factor 2 treatment ISO RGD PMID:12162999 RGD:10402555 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,141,238
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 IEP protein:decreased expression:serum RGD PMID:9284698 RGD:10402579 NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874
JBrowse link
G IL13RA2 interleukin 13 receptor subunit alpha 2 IAGP ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 ClinVar PMID:24088041 PMID:26633545 NCBI chr  X:115,003,982...115,017,616
Ensembl chr  X:115,003,975...115,019,977
JBrowse link
G IL1A interleukin 1 alpha IDA associated with Arthritis, Rheumatoid RGD PMID:10555884 RGD:6907107 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
JBrowse link
G IL1B interleukin 1 beta ISO RGD PMID:22997530 RGD:7204491 NCBI chr 2:112,829,751...112,836,843
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL1RN interleukin 1 receptor antagonist treatment IDA human protein in a rat model RGD PMID:8182127 RGD:8551834 NCBI chr 2:113,099,365...113,134,016
Ensembl chr 2:113,107,214...113,134,016
JBrowse link
G IL6 interleukin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15995586 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G IL6R interleukin 6 receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:15995586 NCBI chr 1:154,405,343...154,469,450
Ensembl chr 1:154,405,193...154,469,450
JBrowse link
G IRAK3 interleukin 1 receptor associated kinase 3 ISS OMIM:166710 MouseDO NCBI chr12:66,189,214...66,254,622
Ensembl chr12:66,189,195...66,254,622
JBrowse link
G IRS1 insulin receptor substrate 1 ISO mRNA, protein:decreased expression:multiple RGD PMID:22820932 RGD:7207063 NCBI chr 2:226,731,312...226,799,820
Ensembl chr 2:226,731,317...226,799,759
Ensembl chr 2:226,731,317...226,799,759
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 chr13:109,752,695...109,786,583
Ensembl chr13:109,752,695...109,786,583
JBrowse link
G KL klotho ISO
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:9363890, PMID:9363890 RGD:10403047 NCBI chr13:33,016,063...33,066,143
Ensembl chr13:33,016,423...33,066,143
JBrowse link
G LEP leptin treatment IEP
IDA
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 7:128,241,201...128,257,629
Ensembl chr 7:128,241,278...128,257,629
JBrowse link
G LEPR leptin receptor susceptibility IAGP DNA:polymorphisms:cds:p.K109R,Q223R(human) RGD PMID:23460508 RGD:10411886 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
JBrowse link
G LGR4 leucine rich repeat containing G protein-coupled receptor 4 susceptibility IAGP
EXP
ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 17
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:23644456 NCBI chr11:27,365,961...27,472,790
Ensembl chr11:27,365,961...27,472,790
JBrowse link
G LOC113839511 Sharpr-MPRA regulatory region 7866 IAGP ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 15 ClinVar PMID:19920351 NCBI chr 9:127,785,870...127,786,164 JBrowse link
G LRCH2 leucine rich repeats and calponin homology domain containing 2 IAGP ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 ClinVar PMID:24088041 PMID:26633545 NCBI chr  X:115,110,611...115,234,096
Ensembl chr  X:115,110,616...115,234,096
JBrowse link
G LRP5 LDL receptor related protein 5 treatment IAGP
ISO
ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 1
ClinVar Annotator: match by term: High bone mass
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 chr11:68,298,866...68,449,275
Ensembl chr11:68,312,591...68,449,275
JBrowse link
G LTF lactotransferrin EXP CTD Direct Evidence: therapeutic CTD PMID:16648989 PMID:16936800 NCBI chr 3:46,435,645...46,485,234
Ensembl chr 3:46,435,645...46,485,234
JBrowse link
G LUZP4 leucine zipper protein 4 IAGP ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 ClinVar PMID:24088041 PMID:26633545 NCBI chr  X:115,289,715...115,307,563
Ensembl chr  X:115,289,715...115,307,563
JBrowse link
G MAPK14 mitogen-activated protein kinase 14 treatment ISO RGD PMID:18442314 RGD:10045965 NCBI chr 6:36,027,711...36,122,964
Ensembl chr 6:36,027,677...36,111,236
JBrowse link
G MGLL monoglyceride lipase EXP CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 3:127,689,066...127,823,185
Ensembl chr 3:127,689,062...128,052,190
JBrowse link
G MIR152 microRNA 152 ISO miRNA:increased expression:femur RGD PMID:31492082 RGD:21066345 NCBI chr17:48,037,161...48,037,247
Ensembl chr17:48,037,161...48,037,247
JBrowse link
G MIR2861 microRNA 2861 IAGP ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 15 ClinVar
OMIM
PMID:19920351 NCBI chr 9:127,785,918...127,786,007
Ensembl chr 9:127,785,918...127,786,007
JBrowse link
G MIR448 microRNA 448 IAGP ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 ClinVar PMID:24088041 PMID:26633545 NCBI chr  X:114,823,454...114,823,564
Ensembl chr  X:114,823,454...114,823,564
JBrowse link
G MMP9 matrix metallopeptidase 9 IEP associated with osteoporosis; protein:increased expression:serum RGD PMID:19411568 RGD:5129553 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO RGD PMID:22704852 RGD:7240519 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
JBrowse link
G NOG noggin ISO RGD PMID:12975477 RGD:10414323 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
JBrowse link
G NRIP1 nuclear receptor interacting protein 1 IAGP DNA:silent mutation, haplotype:p.G75G (human) RGD PMID:16530497 RGD:10045825 NCBI chr21:14,961,235...15,065,903
Ensembl chr21:14,961,235...15,065,936
JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP ClinVar Annotator: match by term: Osteoporosis ClinVar PMID:25741868 NCBI chr 3:193,593,149...193,697,811
Ensembl chr 3:193,593,144...193,697,811
JBrowse link
G OPA1-AS1 OPA1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Osteoporosis ClinVar PMID:25741868 NCBI chr 3:193,618,599...193,627,332
Ensembl chr 3:193,618,609...193,627,337
JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 5:41,730,065...41,870,535
Ensembl chr 5:41,730,065...41,870,425
JBrowse link
G P4HB prolyl 4-hydroxylase subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr17:81,843,159...81,860,535
Ensembl chr17:81,843,161...81,860,624
Ensembl chr17:81,843,161...81,860,624
JBrowse link
G PARK7 Parkinsonism associated deglycase EXP CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 1:7,961,711...7,985,505
Ensembl chr 1:7,954,291...7,985,505
JBrowse link
G PCNA proliferating cell nuclear antigen ISO protein:increased expression:osteoblast: RGD PMID:22550338 RGD:10045656 NCBI chr20:5,114,953...5,126,622
Ensembl chr20:5,114,953...5,126,626
JBrowse link
G PDLIM4 PDZ and LIM domain 4 IAGP ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 15 ClinVar
OMIM
PMID:12908099 NCBI chr 5:132,257,671...132,273,454
Ensembl chr 5:132,257,696...132,273,454
JBrowse link
G PGLS 6-phosphogluconolactonase EXP CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr19:17,511,649...17,521,291
Ensembl chr19:17,511,636...17,521,288
JBrowse link
G PKM pyruvate kinase M1/2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr15:72,199,029...72,231,389
Ensembl chr15:72,199,029...72,231,822
JBrowse link
G PLEK pleckstrin EXP CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 2:68,365,282...68,397,453
Ensembl chr 2:68,365,282...68,397,453
JBrowse link
G PLS3 plastin 3 IAGP ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 ClinVar
OMIM
PMID:24088041 PMID:24088043 PMID:26633545 NCBI chr  X:115,561,174...115,650,861
Ensembl chr  X:115,561,174...115,650,861
JBrowse link
G PNP purine nucleoside phosphorylase EXP CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr14:20,469,406...20,477,089
Ensembl chr14:20,468,954...20,477,094
Ensembl chr14:20,468,954...20,477,094
JBrowse link
G POMC proopiomelanocortin EXP CTD Direct Evidence: marker/mechanism CTD PMID:3017235 PMID:4367732 PMID:6143199 PMID:6254450 PMID:19153526 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
JBrowse link
G PRDX3 peroxiredoxin 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr10:119,167,720...119,178,812
Ensembl chr10:119,167,720...119,178,812
JBrowse link
G PSMA2 proteasome 20S subunit alpha 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 7:42,916,861...42,932,174
Ensembl chr 7:42,909,273...42,932,174
Ensembl chr 7:42,909,273...42,932,174
Ensembl chr 7:42,909,273...42,932,174
Ensembl chr 7:42,909,273...42,932,174
JBrowse link
G PSMA5 proteasome 20S subunit alpha 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 1:109,399,042...109,426,448
Ensembl chr 1:109,399,042...109,426,448
JBrowse link
G PTGER4 prostaglandin E receptor 4 treatment ISO RGD PMID:16442794 RGD:10043381 NCBI chr 5:40,679,915...40,740,936
Ensembl chr 5:40,679,915...40,693,735
JBrowse link
G PTH parathyroid hormone treatment ISO
EXP
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 chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181
JBrowse link
G RAB7B RAB7B, member RAS oncogene family EXP CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 1:205,976,740...206,003,470
Ensembl chr 1:205,976,740...206,003,461
JBrowse link
G RBMXL3 RBMX like 3 IAGP ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 ClinVar PMID:24088041 PMID:26633545 NCBI chr  X:115,189,410...115,192,868
Ensembl chr  X:115,189,427...115,192,868
Ensembl chr  X:115,189,427...115,192,868
JBrowse link
G REN renin EXP CTD Direct Evidence: marker/mechanism CTD PMID:18847324 NCBI chr 1:204,154,819...204,166,337
Ensembl chr 1:204,154,819...204,190,324
JBrowse link
G RSU1 Ras suppressor protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr10:16,590,611...16,817,451
Ensembl chr10:16,590,611...16,817,463
JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Osteoporosis ClinVar PMID:25741868 PMID:28492532 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,587,564
JBrowse link
G SIRT1 sirtuin 1 treatment ISO RGD PMID:22555620, PMID:25377437 RGD:10047129, RGD:10053568 NCBI chr10:67,884,656...67,918,390
Ensembl chr10:67,884,656...67,918,390
JBrowse link
G SOD2 superoxide dismutase 2 susceptibility
no_association
IAGP
EXP
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 chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
Ensembl chr 6:159,669,069...159,762,529
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G TERC telomerase RNA component ISS OMIM:166710 MouseDO NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047
JBrowse link
G TGFB1 transforming growth factor beta 1 treatment ISO
EXP
associated with Uremia;protein:increased expression:osteoblast, osteoclast
CTD Direct Evidence: marker/mechanism
CTD PMID:12706579, PMID:17647196 RGD:10003128 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TLN1 talin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 9:35,696,948...35,732,195
Ensembl chr 9:35,696,948...35,732,195
JBrowse link
G TNFRSF11A TNF receptor superfamily member 11a IAGP RGD PMID:17002564 RGD:1625350 NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,287...62,391,288
JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b EXP CTD Direct Evidence: marker/mechanism CTD PMID:17667143 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B IAGP RGD PMID:17002564 RGD:1625350 NCBI chr 1:12,166,948...12,209,222
Ensembl chr 1:12,166,991...12,209,228
JBrowse link
G TNFSF11 TNF superfamily member 11 IAGP
EXP
CTD Direct Evidence: therapeutic CTD PMID:17882678, PMID:17002564 RGD:1625350 NCBI chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013
JBrowse link
G TPI1 triosephosphate isomerase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr12:6,866,834...6,870,948
Ensembl chr12:6,867,119...6,870,948
JBrowse link
G TPM4 tropomyosin 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr19:16,067,507...16,103,005
Ensembl chr19:16,067,021...16,103,002
JBrowse link
G TUBA1B tubulin alpha 1b EXP CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr12:49,127,782...49,131,395
Ensembl chr12:49,127,782...49,131,397
JBrowse link
G TUBA1C tubulin alpha 1c EXP CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr12:49,227,926...49,274,600
Ensembl chr12:49,188,736...49,274,603
Ensembl chr12:49,188,736...49,274,603
JBrowse link
G U2AF1 U2 small nuclear RNA auxiliary factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr21:43,092,956...43,108,291
Ensembl chr21:43,092,956...43,107,570
Ensembl chr21:43,092,956...43,107,570
JBrowse link
G UGT2B17 UDP glucuronosyltransferase family 2 member B17 IAGP ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 12 ClinVar
OMIM
PMID:18992858 NCBI chr 4:68,537,173...68,576,322
Ensembl chr 4:68,537,184...68,568,527
JBrowse link
G VCL vinculin EXP CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr10:73,998,116...74,121,363
Ensembl chr10:73,995,193...74,121,363
JBrowse link
G VDR vitamin D receptor no_association IAGP
ISS
associated with Cystic Fibrosis
OMIM:166710
MouseDO PMID:16713399 RGD:4889871 NCBI chr12:47,841,537...47,905,022
Ensembl chr12:47,841,537...47,943,048
JBrowse link
G WDR1 WD repeat domain 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 4:10,074,339...10,116,860
Ensembl chr 4:10,074,339...10,116,949
JBrowse link
G WNT1 Wnt family member 1 susceptibility IAGP
EXP
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 chr12:48,978,322...48,982,620
Ensembl chr12:48,978,322...48,982,620
JBrowse link
G ZDHHC13 zinc finger DHHC-type palmitoyltransferase 13 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20548961 NCBI chr11:19,117,099...19,176,420
Ensembl chr11:19,117,099...19,176,422
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 IAGP 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 5:177,402,138...177,409,564
Ensembl chr 5:177,402,141...177,409,564
Ensembl chr 5:177,402,141...177,409,564
JBrowse link
G SLC34A1 solute carrier family 34 member 1 IAGP 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 5:177,384,434...177,412,021
Ensembl chr 5:177,379,235...177,398,848
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 IAGP ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic, 1 ClinVar PMID:28492532 NCBI chr 5:177,402,138...177,409,564
Ensembl chr 5:177,402,141...177,409,564
Ensembl chr 5:177,402,141...177,409,564
JBrowse link
G SLC34A1 solute carrier family 34 member 1 IAGP ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic, 1 ClinVar
OMIM
PMID:12324554 PMID:16688119 PMID:24033266 PMID:25082825 PMID:25741868 PMID:26047794 PMID:26272126 PMID:27378183 PMID:28492532 PMID:28893421 NCBI chr 5:177,384,434...177,412,021
Ensembl chr 5:177,379,235...177,398,848
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 IAGP ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic, 2 ClinVar
OMIM
PMID:18784102 PMID:24033266 PMID:25326635 PMID:25741868 PMID:28492532 PMID:28893421 NCBI chr17:74,748,628...74,769,353
Ensembl chr17:74,748,628...74,769,353
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 IAGP DNA:mutations:exon:c.3446 T > A (p.L1149Q),c.3553 G > A (p.G1185R)(human) RGD PMID:22487062 RGD:12793058 NCBI chr11:68,298,866...68,449,275
Ensembl chr11:68,312,591...68,449,275
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 chr19:11,574,660...11,578,983
Ensembl chr19:11,574,660...11,579,008
JBrowse link
G AR androgen receptor IAGP RGD PMID:12593895 RGD:1578682 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619
JBrowse link
G BMP15 bone morphogenetic protein 15 susceptibility IAGP DNA:SNPs, haplotype:5' utr, intron:g.-9C>G, IVS1+905A>G (human) RGD PMID:22335445 RGD:10045849 NCBI chr  X:50,910,735...50,916,641
Ensembl chr  X:50,910,735...50,916,641
Ensembl chr  X:50,910,735...50,916,641
JBrowse link
G CAT catalase EXP CTD Direct Evidence: marker/mechanism CTD PMID:17227729 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP 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 chr17:50,184,096...50,201,649
Ensembl chr17:50,183,289...50,201,632
Ensembl chr17:50,183,289...50,201,632
JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP 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 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 IAGP DNA:snps:exon:multiple (human) RGD PMID:17118999 RGD:1600860 NCBI chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601
JBrowse link
G ESR1 estrogen receptor 1 treatment
susceptibility
IAGP DNA:SNP:intron:IVS1T>C (human)
DNA:SNPs, haplotype:intron: (rs2234693, rs9340799) (human)
RGD PMID:16604479, PMID:16972020 RGD:8158082, RGD:10045838 NCBI chr 6:151,654,148...152,129,619
Ensembl chr 6:151,656,691...152,129,619
JBrowse link
G ESR2 estrogen receptor 2 susceptibility IAGP 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 chr14:64,226,707...64,338,631
Ensembl chr14:64,084,232...64,338,112
JBrowse link
G FDPS farnesyl diphosphate synthase EXP CTD Direct Evidence: marker/mechanism CTD PMID:31774873 NCBI chr 1:155,308,801...155,320,665
Ensembl chr 1:155,308,748...155,320,666
JBrowse link
G FGF23 fibroblast growth factor 23 IEP protein:increased expression: : RGD PMID:24101107 RGD:10044241 NCBI chr12:4,368,227...4,379,712
Ensembl chr12:4,368,227...4,379,712
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha treatment ISO RGD PMID:24023068, PMID:18067744 RGD:10402191, RGD:10402540 NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
JBrowse link
G IGF1 insulin like growth factor 1 IEP protein:decreased expression:serum: RGD PMID:11063288 RGD:10045861 NCBI chr12:102,395,860...102,481,839
Ensembl chr12:102,395,874...102,481,744
JBrowse link
G IGF2 insulin like growth factor 2 treatment IDA RGD PMID:16753016 RGD:10402556 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,141,238
JBrowse link
G IL1B interleukin 1 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:9032749 NCBI chr 2:112,829,751...112,836,843
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL6 interleukin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9032749 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G IL7 interleukin 7 treatment ISO RGD PMID:23662133 RGD:10402930 NCBI chr 8:78,675,870...78,806,830
Ensembl chr 8:78,675,743...78,805,523
JBrowse link
G LRP5 LDL receptor related protein 5 IAGP ClinVar Annotator: match by term: Postmenopausal osteoporosis ClinVar PMID:25741868 PMID:28492532 NCBI chr11:68,298,866...68,449,275
Ensembl chr11:68,312,591...68,449,275
JBrowse link
G NRIP1 nuclear receptor interacting protein 1 susceptibility IAGP DNA:silent mutation:cds:p.G75G (human) RGD PMID:22335445 RGD:10045849 NCBI chr21:14,961,235...15,065,903
Ensembl chr21:14,961,235...15,065,936
JBrowse link
G PTGER4 prostaglandin E receptor 4 treatment ISO RGD PMID:11917107 RGD:10003045 NCBI chr 5:40,679,915...40,740,936
Ensembl chr 5:40,679,915...40,693,735
JBrowse link
G PTH parathyroid hormone EXP CTD Direct Evidence: therapeutic CTD PMID:20567999 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181
JBrowse link
G PTK2B protein tyrosine kinase 2 beta ISO RGD PMID:17537919 RGD:1642610 NCBI chr 8:27,311,478...27,459,391
Ensembl chr 8:27,311,482...27,459,391
JBrowse link
G TGFB1 transforming growth factor beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10750555 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:9032749 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G VDR vitamin D receptor treatment IEA
IAGP
ClinVar Annotator: match by term: Postmenopausal osteoporosis
DNA:SNP:exon: (rs2228570) (human)
ClinVar PMID:25741868, PMID:15118671, PMID:16604479 RGD:1331525, RGD:8158082 NCBI chr12:47,841,537...47,905,022
Ensembl chr12:47,841,537...47,943,048
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 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684
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 IAGP 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 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684
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 IAGP ClinVar Annotator: match by term: Singleton-Merten syndrome 2 ClinVar
OMIM
PMID:25620203 PMID:25741868 NCBI chr 9:32,455,302...32,526,196
Ensembl chr 9:32,455,302...32,526,208
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 IAGP ClinVar Annotator: match by term: Winchester syndrome ClinVar
OMIM
PMID:4238825 PMID:22922033 PMID:25741868 NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,027
Ensembl chr14:22,836,560...22,849,027
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19895
    Diseases of the Aged 1162
      osteoporosis 144
        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 19895
    disease of anatomical entity 18508
      Skin and Connective Tissue Diseases 5878
        connective tissue disease 4545
          bone disease 3070
            bone remodeling disease 249
              bone resorption disease 169
                osteoporosis 144
                  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