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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:osteoporosis
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Accession:DOID:11476 term browser browse the term
Definition:A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength. (DO)
Synonyms:exact_synonym: Osteoporoses;   age related osteoporosis;   age-related bone loss;   age-related bone losses;   age-related osteoporoses;   involutional osteoporosis;   post-traumatic osteoporoses;   post-traumatic osteoporosis;   senile osteoporoses;   senile osteoporosis
 narrow_synonym: CALCR-RELATED CONDITION;   LRP5-RELATED PRIMARY OSTEOPOROSIS;   X-linked osteoporosis with fractures
 broad_synonym: WNT1-RELATED CONDITION
 related_synonym: OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO;   OSTEOPOROSIS, SUSCEPTIBILITY TO;   fracture, hip, susceptibility to
 xref: EFO:0003882;   ICD10CM:M81.0;   ICD9CM:733.0;   MESH:D010024;   MIM:166710;   MONDO:0005298;   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 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO RGD PMID:10700189 RGD:10047094 NCBI chr12:7,258,932...7,435,658
Ensembl chr12:7,256,648...7,312,734 		JBrowse link
G ACTG1 actin gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr16:73,456,907...73,459,777 JBrowse link
G ADCY5 adenylate cyclase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18029912 NCBI chr22:57,427,711...57,589,440 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 chr17:39,847,343...39,851,288
Ensembl chr17:39,847,759...39,851,127 		JBrowse link
G ANTXR2 ANTXR cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12973667 NCBI chr 7:28,345,849...28,499,818
Ensembl chr 7:28,375,899...28,499,522 		JBrowse link
G ANXA2 annexin A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr26:23,100,000...23,147,687
Ensembl chr26:23,099,992...23,145,457 		JBrowse link
G AR androgen receptor treatment ISO RGD PMID:14600402 PMID:18847323 RGD:10043196 RGD:10043198 NCBI chr  X:57,380,587...57,553,613
Ensembl chr  X:57,380,611...57,546,776 		JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr10:101,128,583...101,166,668 JBrowse link
G ATM ATM serine/threonine kinase ISO RGD PMID:16644862 RGD:10047420 NCBI chr 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520 		JBrowse link
G ATP4B ATPase H+/K+ transporting subunit beta treatment ISO RGD PMID:26869358 RGD:14696735 NCBI chr 3:91,618,147...91,629,177
Ensembl chr 3:91,618,957...91,627,679 		JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:22648569 RGD:10054093 NCBI chr 6:42,186,028...42,193,105 JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO RGD PMID:22648569 RGD:10054093 NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895 		JBrowse link
G BGLAP bone gamma-carboxyglutamate protein susceptibility
treatment 		ISO DNA:SNP, haplotype:promoter:g.-298C>T (human)
associated with alcohol use disorder
associated with Diabetes Mellitus, type 2;associated with Diabetes Mellitus, type 2; protein:uncercarboxylated:serum 		RGD PMID:15108065 PMID:21550389 PMID:23137636 PMID:29698972 RGD:10045665 RGD:598092493 RGD:6483552 RGD:6483579 NCBI chr20:7,623,716...7,626,353
Ensembl chr20:7,623,883...7,624,812 		JBrowse link
G BMP2 bone morphogenetic protein 2 treatment ISO associated with alcohol use disorder RGD PMID:17002564 PMID:29698972 RGD:1625350 RGD:598092493 NCBI chr 2:31,349,394...31,361,227
Ensembl chr 2:31,348,808...31,360,901 		JBrowse link
G BMP4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36453845 NCBI chr24:31,097,673...31,104,774
Ensembl chr24:31,097,538...31,101,225 		JBrowse link
G CA2 carbonic anhydrase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 8:80,830,963...80,848,245
Ensembl chr 8:80,830,939...80,848,707 		JBrowse link
G CALCR calcitonin receptor susceptibility ISO ClinVar Annotator: match by term: CALCR-related condition OMIM
ClinVar		 PMID:9003491 PMID:9571205 PMID:9817931 PMID:25741868 PMID:28492532 NCBI chr21:55,433,438...55,585,608
Ensembl chr21:55,523,412...55,583,735 		JBrowse link
G CAP1 cyclase associated actin cytoskeleton regulatory protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr20:92,833,112...92,865,258
Ensembl chr20:92,829,735...92,864,697 		JBrowse link
G CCT2 chaperonin containing TCP1 subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr11:65,213,992...65,230,318
Ensembl chr11:65,214,060...65,230,379 		JBrowse link
G CIITA class II major histocompatibility complex transactivator ISO OMIM:166710 MouseDO NCBI chr 5:10,341,690...10,401,988
Ensembl chr 5:10,372,344...10,400,451 		JBrowse link
G CLEC11A C-type lectin domain containing 11A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27976999 NCBI chr 6:43,780,151...43,782,780 JBrowse link
G COL1A1 collagen type I alpha 1 chain susceptibility ISO ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL | ClinVar Annotator: match by term: Osteoporosis
ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 | ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL
DNA:SNP, haplotype:intron:g.2046G>T (human) 		OMIM
ClinVar
RGD		 PMID:1770532 PMID:2037280 PMID:2542316 PMID:2794057 PMID:2894346 More... RGD:10045665 NCBI chr16:43,134,648...43,152,313
Ensembl chr16:43,134,779...43,150,930 		JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL | ClinVar Annotator: match by term: Osteoporosis OMIM
ClinVar		 PMID:1978725 PMID:2010058 PMID:2985635 PMID:7695699 PMID:7860070 More... NCBI chr21:54,602,780...54,639,832
Ensembl chr21:54,602,398...54,632,780 		JBrowse link
G CTSK cathepsin K ISO RGD PMID:10469835 RGD:734856
G CXCR4 C-X-C motif chemokine receptor 4 ISO RGD PMID:29882473 RGD:14700776 NCBI chr10:20,336,470...20,340,308
Ensembl chr10:20,336,247...20,340,309 		JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 ISO DNA:snps:multiple (human) RGD PMID:17002564 RGD:1625350 NCBI chr 9:95,870,098...95,877,345
Ensembl chr 9:95,866,908...95,877,180 		JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism
DNA:snps:multiple (human) 		CTD
RGD		 PMID:17002564 PMID:20723554 RGD:1625350 NCBI chr26:32,074,260...32,164,926
Ensembl chr26:32,132,425...32,164,277 		JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22337913 NCBI chr 2:9,868,794...9,889,510
Ensembl chr 2:9,868,678...9,885,884 		JBrowse link
G DAAM2 dishevelled associated activator of morphogenesis 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30598549 NCBI chr17:32,252,891...32,367,575
Ensembl chr17:32,255,661...32,301,176 		JBrowse link
G DBP D-box binding PAR bZIP transcription factor ISO RGD PMID:17002564 RGD:1625350 NCBI chr 6:41,882,042...41,889,311
Ensembl chr 6:41,882,317...41,889,200 		JBrowse link
G DSPP dentin sialophosphoprotein ISO protein:decreased expression:incisor dental pulp (rat) RGD PMID:23974864 RGD:12911019 NCBI chr 7:35,993,669...35,999,443 JBrowse link
G ENO1 enolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr20:122,884,846...122,902,669
Ensembl chr20:122,884,727...122,903,372 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO RGD PMID:23281008 RGD:10045609 NCBI chr 6:38,857,067...38,900,177
Ensembl chr 6:38,854,803...38,872,967 		JBrowse link
G ESR1 estrogen receptor 1 no_association
treatment 		ISO DNA:repeat:intron:IVS5+225(CA)18-25 (human)
DNA:SNP:intron:397T>C (human)
DNA:repeat:5' utr:g.-1174(TA)10-27 (human)
DNA:SNP, haplotype:intron:g.938C>T (human)
DNA:SNPs:intron: (rs2234693, rs9340799) (human)
DNA:SNP:exon:2014G>A (human) 		RGD PMID:10773580 PMID:16530497 PMID:16955786 PMID:17896124 PMID:17953702 More... RGD:10045665 RGD:10045825 RGD:10045826 RGD:10045828 RGD:10045834 RGD:10045839 RGD:10045841 RGD:8694129 NCBI chr13:79,153,418...79,554,552
Ensembl chr13:79,270,265...79,554,549 		JBrowse link
G ESR2 estrogen receptor 2 susceptibility
treatment 		ISO DNA:SNP, haplotypes: :-1213T>C (human)
DNA:repeat:3' utr: g.dupCA (human)
DNA:SNP, haplotype:3'utr:*39A>G (human) 		RGD PMID:16530497 PMID:16777502 PMID:16955786 PMID:21421090 PMID:22948905 RGD:10045825 RGD:10045841 RGD:1626507 RGD:7364765 RGD:8694129 NCBI chr24:41,426,333...41,513,802
Ensembl chr24:41,447,224...41,512,486 		JBrowse link
G ESRRA estrogen related receptor alpha ISO RGD PMID:19936213 RGD:10401868 NCBI chr 1:9,918,741...9,929,481
Ensembl chr 1:9,917,436...9,929,450 		JBrowse link
G FGA fibrinogen alpha chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 7:101,127,554...101,134,881
Ensembl chr 7:101,125,791...101,134,405 		JBrowse link
G FGB fibrinogen beta chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 7:101,106,468...101,114,566
Ensembl chr 7:101,106,483...101,114,662 		JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr11:6,569,029...6,572,877 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 4:41,171,038...41,464,474
Ensembl chr 4:41,285,712...41,464,666 		JBrowse link
G GOLM1 golgi membrane protein 1 treatment ISO protein:increased expression:serum RGD PMID:30396165 RGD:401827113 NCBI chr12:96,706,865...96,778,687
Ensembl chr12:96,708,548...96,779,065 		JBrowse link
G GORAB golgin, RAB6 interacting ISO CTD Direct Evidence: marker/mechanism CTD PMID:18997784 NCBI chr25:58,528,062...58,549,981
Ensembl chr25:58,527,947...58,549,891 		JBrowse link
G GPC6 glypican 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28869591 NCBI chr 3:72,075,622...73,242,678 JBrowse link
G GPD2 glycerol-3-phosphate dehydrogenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr10:41,832,772...41,984,109
Ensembl chr10:41,834,013...41,986,423 		JBrowse link
G GPX1 glutathione peroxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr22:10,754,976...10,756,617 JBrowse link
G GSN gelsolin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr12:18,253,079...18,317,285
Ensembl chr12:18,253,324...18,285,938 		JBrowse link
G GSR glutathione-disulfide reductase ISO protein:decreased expression:blood RGD PMID:19464221 RGD:10401828 NCBI chr 8:28,778,713...28,851,907 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 chr 1:6,676,897...6,679,936 JBrowse link
G HFE homeostatic iron regulator ISO associated with hemochromatosis RGD PMID:26829642 RGD:14746963 NCBI chr17:46,159,770...46,168,831
Ensembl chr17:46,156,685...46,164,649 		JBrowse link
G ID4 inhibitor of DNA binding 4 ISO OMIM:166710 MouseDO NCBI chr17:52,349,908...52,353,218
Ensembl chr17:52,348,388...52,353,281 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr29:8,633,429...8,650,744
Ensembl chr29:8,633,715...8,650,657 		JBrowse link
G IFITM5 interferon induced transmembrane protein 5 ISO ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL ClinVar PMID:22863190 PMID:22863195 PMID:23977282 PMID:25251575 PMID:25741868 More... NCBI chr 1:112,164...113,988
Ensembl chr 1:112,469...113,448 		JBrowse link
G IFNGR1 interferon gamma receptor 1 ISO OMIM:166710 MouseDO NCBI chr13:36,203,038...36,224,039
Ensembl chr13:36,203,004...36,222,542 		JBrowse link
G IGF1 insulin like growth factor 1 treatment ISO associated with Uremia;protein:altered expression:osteoblast, osteoclast, chondroblast
associated with Cholestasis
associated with Diabetes Mellitus, Experimental 		RGD PMID:1466160 PMID:10499542 PMID:17647196 PMID:19424739 RGD:10003127 RGD:10003128 RGD:10003131 RGD:10003132 NCBI chr11:97,624,498...97,708,730
Ensembl chr11:97,631,189...97,707,308 		JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO RGD PMID:18079194 RGD:10045888 NCBI chr29:17,212,206...17,534,036
Ensembl chr29:17,459,404...17,526,930 		JBrowse link
G IGF2 insulin like growth factor 2 treatment ISO RGD PMID:12162999 RGD:10402555 NCBI chr 1:1,937,414...1,951,238
Ensembl chr 1:1,936,830...1,945,388 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO protein:decreased expression:serum RGD PMID:9284698 RGD:10402579 NCBI chr21:12,905,309...12,914,199
Ensembl chr21:12,905,280...12,914,205 		JBrowse link
G IL1A interleukin 1 alpha ISO associated with Arthritis, Rheumatoid RGD PMID:10555884 RGD:6907107 NCBI chr14:15,789,710...15,801,938
Ensembl chr14:15,789,013...15,796,611 		JBrowse link
G IL1B interleukin 1 beta ISO RGD PMID:22997530 RGD:7204491 NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729 		JBrowse link
G IL1RN interleukin 1 receptor antagonist treatment ISO human protein in a rat model RGD PMID:8182127 RGD:8551834 NCBI chr14:16,136,667...16,152,451
Ensembl chr14:16,146,333...16,151,326 		JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15995586 NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237 		JBrowse link
G IL6R interleukin 6 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15995586 NCBI chr20:9,345,723...9,418,963
Ensembl chr20:9,361,152...9,396,610 		JBrowse link
G IRAK3 interleukin 1 receptor associated kinase 3 ISO OMIM:166710 MouseDO NCBI chr11:61,868,817...61,920,896
Ensembl chr11:61,869,173...61,920,406 		JBrowse link
G IRS1 insulin receptor substrate 1 ISO mRNA, protein:decreased expression:multiple RGD PMID:22820932 RGD:7207063 NCBI chr10:112,748,283...112,812,368 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 3:88,045,439...88,076,468 JBrowse link
G KL klotho ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:9363890 RGD:10403047 NCBI chr 3:11,755,015...11,799,537
Ensembl chr 3:11,755,016...11,797,596 		JBrowse link
G LEP leptin treatment ISO associated with chronic obstructive pulmonary disease; protein:decreased expression:serum
human protein in a rat model
protein:increased expression:serum (rat) 		RGD PMID:11459801 PMID:12609558 PMID:21376149 PMID:24250662 RGD:10053572 RGD:10053615 RGD:10053630 RGD:5128771 NCBI chr21:97,056,913...97,071,161
Ensembl chr21:97,057,529...97,071,220 		JBrowse link
G LEPR leptin receptor susceptibility ISO DNA:missense mutations:CDS:p.K109R, Q223R (human) RGD PMID:23460508 RGD:10411886 NCBI chr20:67,454,205...67,567,524
Ensembl chr20:67,454,334...67,524,229 		JBrowse link
G LOC103238262 tubulin alpha-1C chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr11:45,494,973...45,502,786
Ensembl chr11:45,494,919...45,503,300 		JBrowse link
G LOC103239768 calcitonin gene-related peptide 1 ISO RGD PMID:2502220 RGD:734677 NCBI chr 1:49,946,574...49,956,010
Ensembl chr 1:49,951,694...49,954,092 		JBrowse link
G LRP5 LDL receptor related protein 5 treatment ISO ClinVar Annotator: match by term: LRP5-related primary osteoporosis | ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL | ClinVar Annotator: match by term: Osteoporosis
ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 1 | ClinVar Annotator: match by term: LRP5-related primary osteoporosis | ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL | ClinVar Annotator: match by term: Osteoporosis 		RGD
ClinVar		 PMID:9536098 PMID:11719191 PMID:11793484 PMID:12015390 PMID:12579474 More... RGD:12793063 RGD:7240519 NCBI chr 1:6,090,048...6,224,956
Ensembl chr 1:6,089,930...6,190,383 		JBrowse link
G LTF lactotransferrin ISO CTD Direct Evidence: therapeutic CTD PMID:16648989 PMID:16936800 NCBI chr22:7,867,332...7,896,403
Ensembl chr22:7,867,286...7,894,521 		JBrowse link
G LY6S lymphocyte antigen 6 family member S ISO OMIM:166710 MouseDO
G MAPK14 mitogen-activated protein kinase 14 treatment ISO RGD PMID:18442314 RGD:10045965 NCBI chr17:36,012,164...36,095,542
Ensembl chr17:36,014,454...36,095,138 		JBrowse link
G MGLL monoglyceride lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr22:53,092,970...53,354,316
Ensembl chr22:53,218,672...53,354,448 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO associated with osteoporosis; protein:increased expression:serum RGD PMID:19411568 RGD:5129553 NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO RGD PMID:22704852 RGD:7240519 NCBI chr 8:122,282,989...122,288,392
Ensembl chr 8:122,282,630...122,288,384 		JBrowse link
G NOG noggin ISO RGD PMID:12975477 RGD:10414323 NCBI chr16:36,816,783...36,818,693
Ensembl chr16:36,817,476...36,818,174 		JBrowse link
G NRIP1 nuclear receptor interacting protein 1 ISO DNA:silent mutation, haplotype:p.G75G (human) RGD PMID:16530497 RGD:10045825 NCBI chr 2:77,480,398...77,583,985
Ensembl chr 2:77,577,029...77,580,496 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Osteoporosis ClinVar PMID:28289185 NCBI chr  X:12,222,396...12,256,802
Ensembl chr  X:12,222,760...12,256,557 		JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Osteoporosis ClinVar PMID:25741868 NCBI chr15:87,679,656...87,778,767
Ensembl chr15:87,679,077...87,779,102 		JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 4:40,477,983...40,620,971 JBrowse link
G P4HB prolyl 4-hydroxylase subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr16:73,718,743...73,733,488
Ensembl chr16:73,718,656...73,733,892 		JBrowse link
G PARK7 Parkinsonism associated deglycase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr20:123,776,084...123,808,031
Ensembl chr20:123,776,297...123,798,434 		JBrowse link
G PCNA proliferating cell nuclear antigen ISO protein:increased expression:osteoblast: RGD PMID:22550338 RGD:10045656 NCBI chr 2:32,936,600...32,953,635
Ensembl chr 2:32,948,196...32,953,991 		JBrowse link
G PDLIM4 PDZ and LIM domain 4 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr23:35,087,966...35,102,703
Ensembl chr23:35,088,001...35,105,018 		JBrowse link
G PGGHG protein-glucosylgalactosylhydroxylysine glucosidase ISO ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL ClinVar PMID:22863190 PMID:22863195 PMID:23977282 PMID:25251575 PMID:25741868 More... NCBI chr 1:102,388...109,337
Ensembl chr 1:102,136...108,370 		JBrowse link
G PGLS 6-phosphogluconolactonase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 6:15,997,865...16,006,137
Ensembl chr 6:15,997,806...16,006,805 		JBrowse link
G PKM pyruvate kinase M1/2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr26:11,224,332...11,255,538 JBrowse link
G PLEK pleckstrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr14:38,689,387...38,769,090
Ensembl chr14:38,689,393...38,745,893 		JBrowse link
G PLS3 plastin 3 ISO ClinVar Annotator: match by term: X-linked osteoporosis with fractures ClinVar PMID:24088043 PMID:25741868
G PNP purine nucleoside phosphorylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr29:20,992,892...21,001,400
Ensembl chr29:20,993,280...21,001,606 		JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:3017235 PMID:4367732 PMID:6143199 PMID:6254450 PMID:19153526 NCBI chr14:82,491,296...82,499,289
Ensembl chr14:82,494,323...82,499,447 		JBrowse link
G PRDX3 peroxiredoxin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 9:111,957,865...111,968,514
Ensembl chr 9:111,955,952...111,968,475 		JBrowse link
G PSMA2 proteasome 20S subunit alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr21:15,672,115...15,686,492
Ensembl chr21:15,672,106...15,687,177 		JBrowse link
G PSMA5 proteasome 20S subunit alpha 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr20:24,120,613...24,146,369
Ensembl chr20:24,120,562...24,148,736 		JBrowse link
G PTGER4 prostaglandin E receptor 4 treatment ISO RGD PMID:16442794 RGD:10043381 NCBI chr 4:39,440,697...39,453,983
Ensembl chr 4:39,440,276...39,454,004 		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 More... RGD:7242793 RGD:7242907 NCBI chr 1:51,327,555...51,330,810 JBrowse link
G RAB7B RAB7B, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr25:23,341,090...23,367,414
Ensembl chr25:23,341,490...23,367,398 		JBrowse link
G REN renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18847324 NCBI chr25:25,159,816...25,193,620
Ensembl chr25:25,183,037...25,193,420 		JBrowse link
G RSU1 Ras suppressor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 9:16,539,230...16,768,526
Ensembl chr 9:16,535,573...16,768,593 		JBrowse link
G RUNX2 RUNX family transcription factor 2 treatment ISO associated with alcohol use disorder RGD PMID:29698972 RGD:598092493 NCBI chr17:26,679,386...26,807,812
Ensembl chr17:26,683,175...26,807,319 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Osteoporosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:33,080,443...33,234,478
Ensembl chr 6:33,080,758...33,213,788 		JBrowse link
G SERPINF1 serpin family F member 1 ISO ClinVar Annotator: match by term: Osteoporosis ClinVar PMID:25741868 PMID:28492532 PMID:29150909 PMID:30968248 NCBI chr16:1,408,453...1,424,197 JBrowse link
G SIRT1 sirtuin 1 treatment ISO RGD PMID:22555620 PMID:25377437 RGD:10047129 RGD:10053568 NCBI chr 9:63,463,059...63,497,893
Ensembl chr 9:63,462,389...63,497,867 		JBrowse link
G SOD2 superoxide dismutase 2 no_association
susceptibility 		ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs:5' utr, exon, intron:multiple
DNA:SNPs:intron, exon:g.31A>G, g.327C>T (p.A16V) (rs5746094, rs4880) (human) 		CTD
RGD		 PMID:18924182 PMID:26336112 RGD:11035299 NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974 		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 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365 		JBrowse link
G TLN1 talin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr12:44,870,004...44,906,686
Ensembl chr12:44,876,643...44,907,072 		JBrowse link
G TNFRSF11A TNF receptor superfamily member 11a ISO RGD PMID:17002564 RGD:1625350 NCBI chr18:17,385,251...17,446,442 JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b treatment ISO CTD Direct Evidence: marker/mechanism
associated with alcohol use disorder
OMIM:166710 		CTD
RGD
MouseDO		 PMID:17667143 PMID:29698972 RGD:598092493 NCBI chr 8:113,520,711...113,549,370
Ensembl chr 8:113,520,596...113,548,936 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO RGD PMID:17002564 RGD:1625350 NCBI chr20:119,590,621...119,633,562
Ensembl chr20:119,590,325...119,633,497 		JBrowse link
G TNFSF11 TNF superfamily member 11 ISO OMIM:166710
CTD Direct Evidence: therapeutic 		RGD
MouseDO
CTD		 PMID:17002564 PMID:17882678 RGD:1625350 NCBI chr 3:20,717,884...20,761,520
Ensembl chr 3:20,727,592...20,760,408 		JBrowse link
G TPI1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr11:6,900,762...6,904,188
Ensembl chr11:6,900,787...6,906,787 		JBrowse link
G TPM4 tropomyosin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 6:14,566,958...14,604,754
Ensembl chr 6:14,566,869...14,598,934 		JBrowse link
G TUBA1B tubulin alpha 1b ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr11:45,365,071...45,368,807
Ensembl chr11:45,364,873...45,368,752 		JBrowse link
G U2AF1 U2 small nuclear RNA auxiliary factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 2:86,949,910...86,964,655
Ensembl chr 2:86,950,056...86,964,579 		JBrowse link
G VCL vinculin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 9:57,253,219...57,375,947
Ensembl chr 9:57,255,166...57,376,028 		JBrowse link
G VDR vitamin D receptor no_association ISO associated with Cystic Fibrosis
OMIM:166710 		RGD
MouseDO		 PMID:16713399 RGD:4889871 NCBI chr11:44,062,198...44,126,295
Ensembl chr11:44,065,457...44,166,684 		JBrowse link
G WDR1 WD repeat domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr27:39,929,749...39,973,892
Ensembl chr27:39,929,787...39,974,012 		JBrowse link
G WNT1 Wnt family member 1 ISO ClinVar Annotator: match by term: OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO ClinVar PMID:23499309 PMID:23656646 PMID:25741868 PMID:27450065 PMID:28492532 More... NCBI chr11:45,217,402...45,222,996
Ensembl chr11:45,219,027...45,222,017 		JBrowse link
G ZDHHC13 zDHHC palmitoyltransferase 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20548961 NCBI chr 1:45,819,877...45,873,302
Ensembl chr 1:45,820,339...45,854,299 		JBrowse link
glucocorticoid-induced osteoporosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RUNX2 RUNX family transcription factor 2 treatment ISO RGD PMID:28363435 RGD:598092495 NCBI chr17:26,679,386...26,807,812
Ensembl chr17:26,683,175...26,807,319 		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: Nephrolithiasis/osteoporosis, hypophosphatemic ClinVar PMID:24033266 PMID:25050900 PMID:25741868 PMID:28492532 PMID:30943683 NCBI chr23:79,414,074...79,438,896
Ensembl chr23:79,414,225...79,432,298 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic ClinVar PMID:24033266 PMID:25050900 PMID:25741868 PMID:28492532 PMID:30943683 NCBI chr23:79,395,923...79,410,835
Ensembl chr23:79,396,250...79,411,695 		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: Hypophosphatemic nephrolithiasis/osteoporosis 1 ClinVar PMID:25050900 PMID:25741868 PMID:28492532 PMID:30943683 NCBI chr23:79,414,074...79,438,896
Ensembl chr23:79,414,225...79,432,298 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1 OMIM
ClinVar		 PMID:9536098 PMID:12324554 PMID:14672348 PMID:16199547 PMID:16688119 More... NCBI chr23:79,395,923...79,410,835
Ensembl chr23:79,396,250...79,411,695 		JBrowse link
G SLC34A3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1 ClinVar PMID:25741868 PMID:28492532 PMID:31672324 NCBI chr12:952,486...958,602
Ensembl chr12:952,278...957,308 		JBrowse link
hypophosphatemic nephrolithiasis/osteoporosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NHERF1 NHERF family PDZ scaffold protein 1 ISO ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 2 | ClinVar Annotator: match by term: NHERF1-related condition OMIM
ClinVar		 PMID:18784102 PMID:24033266 PMID:25326635 PMID:25741868 PMID:28492532 More... NCBI chr16:46,889,454...46,910,776
Ensembl chr16:46,888,942...46,910,842 		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 1:6,090,048...6,224,956
Ensembl chr 1:6,089,930...6,190,383 		JBrowse link
Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COPB2 COPI coat complex subunit beta 2 ISO ClinVar Annotator: match by term: Osteoporosis, childhood- or juvenile-onset, with developmental delay OMIM
ClinVar		 PMID:25741868 PMID:29036432 PMID:34450031 PMID:37734708 NCBI chr15:51,165,275...51,197,971 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 6:10,488,572...10,493,508
Ensembl chr 6:10,488,460...10,491,519 		JBrowse link
G AR androgen receptor ISO RGD PMID:12593895 RGD:1578682 NCBI chr  X:57,380,587...57,553,613
Ensembl chr  X:57,380,611...57,546,776 		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:47,713,434...47,722,818
Ensembl chr  X:47,713,957...47,719,777 		JBrowse link
G CAT catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17227729 NCBI chr 1:30,792,533...30,828,920
Ensembl chr 1:30,792,399...30,829,592 		JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Postmenopausal osteoporosis ClinVar PMID:2037280 PMID:2542316 PMID:7695699 PMID:7942841 PMID:8218237 More... NCBI chr16:43,134,648...43,152,313
Ensembl chr16:43,134,779...43,150,930 		JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Postmenopausal osteoporosis ClinVar PMID:1463018 PMID:1978725 PMID:2010058 PMID:2052622 PMID:2985635 More... NCBI chr21:54,602,780...54,639,832
Ensembl chr21:54,602,398...54,632,780 		JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO DNA:snps:exon:multiple (human) RGD PMID:17118999 RGD:1600860 NCBI chr26:32,074,260...32,164,926
Ensembl chr26:32,132,425...32,164,277 		JBrowse link
G ESR1 estrogen receptor 1 treatment
susceptibility 		ISO DNA:SNP:intron:IVS1T>C (human)
DNA:SNPs, haplotype:intron: (rs2234693, rs9340799) (human) 		RGD PMID:16604479 PMID:16972020 RGD:10045838 RGD:8158082 NCBI chr13:79,153,418...79,554,552
Ensembl chr13:79,270,265...79,554,549 		JBrowse link
G ESR2 estrogen receptor 2 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:17945165 PMID:22335445 RGD:10045847 RGD:10045849 RGD:1626507 NCBI chr24:41,426,333...41,513,802
Ensembl chr24:41,447,224...41,512,486 		JBrowse link
G FDPS farnesyl diphosphate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:31774873 NCBI chr20:8,514,311...8,526,363 JBrowse link
G FGF23 fibroblast growth factor 23 ISO protein:increased expression: : RGD PMID:24101107 RGD:10044241 NCBI chr11:4,398,318...4,408,415
Ensembl chr11:4,398,675...4,407,209 		JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha treatment ISO RGD PMID:18067744 PMID:24023068 RGD:10402191 RGD:10402540 NCBI chr24:38,873,830...38,927,657
Ensembl chr24:38,873,861...38,928,288 		JBrowse link
G IFITM5 interferon induced transmembrane protein 5 ISO ClinVar Annotator: match by term: Postmenopausal osteoporosis ClinVar PMID:22863190 PMID:22863195 PMID:23977282 PMID:25251575 PMID:25741868 More... NCBI chr 1:112,164...113,988
Ensembl chr 1:112,469...113,448 		JBrowse link
G IGF1 insulin like growth factor 1 ISO protein:decreased expression:serum: RGD PMID:11063288 RGD:10045861 NCBI chr11:97,624,498...97,708,730
Ensembl chr11:97,631,189...97,707,308 		JBrowse link
G IGF2 insulin like growth factor 2 treatment ISO RGD PMID:16753016 RGD:10402556 NCBI chr 1:1,937,414...1,951,238
Ensembl chr 1:1,936,830...1,945,388 		JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032749 NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729 		JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032749 NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237 		JBrowse link
G IL7 interleukin 7 treatment ISO RGD PMID:23662133 RGD:10402930 NCBI chr 8:74,230,493...74,292,985
Ensembl chr 8:74,231,809...74,292,384 		JBrowse link
G LRP5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Postmenopausal osteoporosis ClinVar PMID:24715757 PMID:25741868 PMID:28492532 NCBI chr 1:6,090,048...6,224,956
Ensembl chr 1:6,089,930...6,190,383 		JBrowse link
G NFATC1 nuclear factor of activated T cells 1 treatment ISO RGD PMID:31399090 RGD:329328926 NCBI chr18:690,313...815,804
Ensembl chr18:689,671...811,100 		JBrowse link
G NRIP1 nuclear receptor interacting protein 1 susceptibility ISO DNA:silent mutation:cds:p.G75G (human) RGD PMID:22335445 RGD:10045849 NCBI chr 2:77,480,398...77,583,985
Ensembl chr 2:77,577,029...77,580,496 		JBrowse link
G PGGHG protein-glucosylgalactosylhydroxylysine glucosidase ISO ClinVar Annotator: match by term: Postmenopausal osteoporosis ClinVar PMID:22863190 PMID:22863195 PMID:23977282 PMID:25251575 PMID:25741868 More... NCBI chr 1:102,388...109,337
Ensembl chr 1:102,136...108,370 		JBrowse link
G PLS3 plastin 3 ISO ClinVar Annotator: match by term: Postmenopausal osteoporosis ClinVar PMID:25741868
G PTGER4 prostaglandin E receptor 4 treatment ISO RGD PMID:11917107 RGD:10003045 NCBI chr 4:39,440,697...39,453,983
Ensembl chr 4:39,440,276...39,454,004 		JBrowse link
G PTH parathyroid hormone ISO CTD Direct Evidence: therapeutic CTD PMID:20567999 NCBI chr 1:51,327,555...51,330,810 JBrowse link
G PTK2B protein tyrosine kinase 2 beta ISO RGD PMID:17537919 RGD:1642610 NCBI chr 8:25,437,680...25,571,594
Ensembl chr 8:25,437,564...25,571,782 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10750555 NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032749
G VDR vitamin D receptor treatment ISO DNA:SNP:exon: (rs2228570) (human) RGD PMID:16604479 RGD:8158082 NCBI chr11:44,062,198...44,126,295
Ensembl chr11:44,065,457...44,166,684 		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 chr10:47,676,799...47,732,310
Ensembl chr10:47,676,920...47,732,264 		JBrowse link
Singleton-Merten Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFIH1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Singleton-Merten syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19264985 PMID:19324880 More... NCBI chr10:47,676,799...47,732,310
Ensembl chr10:47,676,920...47,732,264 		JBrowse link
Singleton-Merten Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RIGI RNA sensor RIG-I ISO ClinVar Annotator: match by term: RIGI-related condition | ClinVar Annotator: match by term: Singleton-Merten syndrome 2 OMIM
ClinVar		 PMID:25620203 PMID:25741868 PMID:28180316 PMID:28492532 NCBI chr12:47,729,040...47,800,995
Ensembl chr12:47,729,076...47,799,570 		JBrowse link
Winchester syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LPCAT2 lysophosphatidylcholine acyltransferase 2 ISO ClinVar Annotator: match by term: Winchester-Grossman syndrome ClinVar NCBI chr 5:41,293,191...41,369,443
Ensembl chr 5:41,294,580...41,372,825 		JBrowse link
G MMP14 matrix metallopeptidase 14 ISO ClinVar Annotator: match by term: MMP14-related condition | ClinVar Annotator: match by term: Winchester syndrome | ClinVar Annotator: match by term: Winchester-Grossman syndrome OMIM
ClinVar		 PMID:4238825 PMID:9536098 PMID:17480005 PMID:17576681 PMID:22922033 More... NCBI chr29:23,201,425...23,212,408
Ensembl chr29:23,201,112...23,212,679 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO ClinVar Annotator: match by term: Winchester-Grossman syndrome ClinVar PMID:9536098 PMID:11431697 PMID:16458924 PMID:17576681 PMID:19019335 More... NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15628
    Diseases of the Aged 1223
      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
        Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay 1
        Postmenopausal Osteoporosis 29
        Prader-Willi Habitus, Osteopenia, and Camptodactyly 0
        Premature Aging, Okamoto Type 0
        Singleton Merten Syndrome + 2
        Winchester syndrome 3
        glucocorticoid-induced osteoporosis 1
        hypophosphatemic nephrolithiasis/osteoporosis + 4
        idiopathic juvenile osteoporosis 1
Path 2
Term Annotations click to browse term
  disease 15628
    disease of anatomical entity 15289
      Skin and Connective Tissue Diseases 7138
        connective tissue disease 5437
          bone disease 3928
            bone remodeling disease 310
              bone resorption disease 183
                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
                  Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay 1
                  Postmenopausal Osteoporosis 29
                  Prader-Willi Habitus, Osteopenia, and Camptodactyly 0
                  Premature Aging, Okamoto Type 0
                  Singleton Merten Syndrome + 2
                  Winchester syndrome 3
                  glucocorticoid-induced osteoporosis 1
                  hypophosphatemic nephrolithiasis/osteoporosis + 4
                  idiopathic juvenile osteoporosis 1
paths to the root