RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: bone resorption disease
Accession: DOID:0080011
browse the term
Definition: A bone remodeling disease that results in an abnormal decrease of bone density or mass. (DO)
Synonyms: exact_synonym: Bone Resorption; Bone Resorptions; Osteoclastic Bone Loss; Osteoclastic Bone Losses
primary_id: MESH:D001862
For additional species annotation, visit the
Alliance of Genome Resources .
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Ahr
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19934163
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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Bmp7
bone morphogenetic protein 7
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17513972
NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788
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Col2a1
collagen type II alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27028940
NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
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Cxcl2
C-X-C motif chemokine ligand 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21507677
NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
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Cyp19a1
cytochrome P450, family 19, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11985600
NCBI chr 8:54,553,165...54,580,758
Ensembl chr 8:54,553,165...54,580,758
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Ghrl
ghrelin and obestatin prepropeptide
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:29477364
NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621
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Pth
parathyroid hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9881647
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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Pthlh
parathyroid hormone-like hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16769263
NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847
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Tnfrsf11b
TNF receptor superfamily member 11B
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:15845617 PMID:18496637 PMID:23333834
NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
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Tnfsf11
TNF superfamily member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26319416
NCBI chr15:53,674,990...53,705,171
Ensembl chr15:53,673,877...53,705,445
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Smad4
SMAD family member 4
ISO
associated with Juvenile Polyposis Syndrome;DNA:nonsense mutation:exon:p.Y412X (1236C>G) (human)
RGD
PMID:15990641
RGD:12880041
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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Zmpste24
zinc metallopeptidase STE24
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12913070 PMID:17152860
NCBI chr 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110
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Notch2
notch receptor 2
ISO
ClinVar Annotator: match by term: Acroosteolysis dominant type
ClinVar
PMID:9207787 PMID:9207788 PMID:11343321 PMID:14684686 PMID:14993126 PMID:16773578 PMID:18815778 PMID:19445024 PMID:21378989 PMID:21681853 PMID:21712856 PMID:21793104 PMID:21934706 PMID:22209762 PMID:22306179 PMID:22891276 PMID:23752887 PMID:24728327 PMID:25016221 PMID:25741868 PMID:28166811 PMID:28492532 More...
NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
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Alpl
alkaline phosphatase, biomineralization associated
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20630305
NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446
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Ccr2
C-C motif chemokine receptor 2
ISO
associated with Periodontitis;
RGD
PMID:21241302
RGD:8661687
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Il10
interleukin 10
treatment
IEP
associated with Diabetes Mellitus, Experimental
RGD
PMID:26270535
RGD:11049527
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Parp1
poly (ADP-ribose) polymerase 1
ISO
RGD
PMID:14630900
RGD:10413909
NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
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Tnf
tumor necrosis factor
treatment
IEP
associated with Diabetes Mellitus, Experimental
RGD
PMID:26270535
RGD:11049527
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfsf11
TNF superfamily member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19249596
NCBI chr15:53,674,990...53,705,171
Ensembl chr15:53,673,877...53,705,445
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Tnfrsf11a
TNF receptor superfamily member 11A
ISO
ClinVar Annotator: match by term: Familial expansile osteolysis
OMIM ClinVar
PMID:7911698 PMID:10615125 PMID:12362049 PMID:12568416 PMID:17447113 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695
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Notch2
notch receptor 2
ISO
ClinVar Annotator: match by term: Arthrodentoosteodysplasia | ClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar Annotator: match by term: SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8723560 PMID:8755249 PMID:9207787 PMID:9207788 PMID:9536098 PMID:11343321 PMID:14684686 PMID:14993126 PMID:16773578 PMID:17159511 PMID:17576681 PMID:18815778 PMID:19445024 PMID:21378985 PMID:21378989 PMID:21681853 PMID:21712856 PMID:21793104 PMID:21934706 PMID:22209762 PMID:22306179 PMID:22891273 PMID:22891276 PMID:23752887 PMID:24728327 PMID:25016221 PMID:25741868 PMID:25741915 PMID:26184537 PMID:27312922 PMID:27592446 PMID:28166811 PMID:28492532 PMID:28512196 PMID:28941602 PMID:31595186 PMID:32341259 More...
NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
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F12
coagulation factor XII
ISO
ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic
ClinVar
PMID:8528215 PMID:9354665 PMID:9536098 PMID:17576681 PMID:21920016 PMID:23348723 PMID:24029428 PMID:24033266 PMID:25524745 PMID:25741868 PMID:28492532 More...
NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530
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Slc34a1
solute carrier family 34 member 1
ISO
ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic
ClinVar
PMID:8528215 PMID:9354665 PMID:9536098 PMID:17576681 PMID:21920016 PMID:23348723 PMID:24029428 PMID:24033266 PMID:25524745 PMID:25741868 PMID:28492532 More...
NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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F12
coagulation factor XII
ISO
ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530
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Slc34a1
solute carrier family 34 member 1
ISO
ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1
OMIM ClinVar
PMID:9536098 PMID:12324554 PMID:16688119 PMID:17576681 PMID:24033266 PMID:25082825 PMID:25741868 PMID:26047794 PMID:26272126 PMID:26787776 PMID:27378183 PMID:28492532 PMID:28893421 PMID:29959532 More...
NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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Slc34a3
solute carrier family 34 member 3
ISO
ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:8,044,294...8,050,034
Ensembl chr 3:8,044,296...8,049,970
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Nherf1
NHERF family PDZ scaffold protein 1
ISO
ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 2
OMIM ClinVar
PMID:18784102 PMID:24033266 PMID:25326635 PMID:25741868 PMID:28492532 PMID:28893421 More...
NCBI chr10:100,403,189...100,420,290
Ensembl chr10:100,403,069...100,420,598
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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 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
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Ctsc
cathepsin C
ISO
ClinVar Annotator: match by term: Haim-Munk syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:10581027 PMID:10593994 PMID:10662807 PMID:10662808 PMID:11106356 PMID:11180012 PMID:11180601 PMID:11886537 PMID:12112662 PMID:14974080 PMID:15111626 PMID:16199547 PMID:17576681 PMID:18809751 PMID:23311634 PMID:24033266 PMID:24936511 PMID:25741868 PMID:28242153 PMID:28317349 PMID:28492532 PMID:29410039 PMID:31282082 More...
NCBI chr 1:142,028,386...142,059,841
Ensembl chr 1:142,028,392...142,060,387
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Lmna
lamin A/C
ISO
ClinVar Annotator: match by term: Lipodystrophy, type A, associated with mandibuloacral dysplasia | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy, atypical DNA:missense mutation:cds:p.R527H (human) CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:2007407 PMID:2338570 PMID:9500556 PMID:9536098 PMID:10580070 PMID:10587585 PMID:10655060 PMID:10739751 PMID:10739764 PMID:10810087 PMID:10868844 PMID:10999791 PMID:10999845 PMID:11078466 PMID:11102973 PMID:11136544 PMID:11231979 PMID:11342468 PMID:11344241 PMID:11503164 PMID:11561226 PMID:11792809 PMID:11897440 PMID:12075506 PMID:12524233 PMID:12628721 PMID:12629077 PMID:12647844 PMID:12669268 PMID:12768443 PMID:12784312 PMID:12788894 PMID:12920062 PMID:12927424 PMID:12927431 PMID:14510863 PMID:14597414 PMID:14615128 PMID:14627682 PMID:14659775 PMID:14749366 PMID:15140538 PMID:15286156 PMID:15298354 PMID:15475483 PMID:15531479 PMID:15998779 PMID:16174718 PMID:16181372 PMID:16199547 PMID:16278265 PMID:16364671 PMID:16415042 PMID:16440304 PMID:16459536 PMID:16671095 PMID:16715312 PMID:16772334 PMID:16809772 PMID:17250669 PMID:17274801 PMID:17377071 PMID:17524034 PMID:17536044 PMID:17576681 PMID:17711925 PMID:17848409 PMID:17893350 PMID:17935239 PMID:17987279 PMID:18035086 PMID:18182166 PMID:18348272 PMID:18396274 PMID:18414213 PMID:18549403 PMID:18551513 PMID:18585512 PMID:18604166 PMID:18606848 PMID:18728124 PMID:18795223 PMID:18796515 PMID:18926329 PMID:19011997 PMID:19201734 PMID:19204888 PMID:19220582 PMID:19249234 PMID:19318026 PMID:19418082 PMID:19424285 PMID:19427440 PMID:19432833 PMID:19574635 PMID:19589617 PMID:19622949 PMID:19638735 PMID:19680556 PMID:19764019 PMID:19859838 PMID:19875404 PMID:20130076 PMID:20160190 PMID:20301717 PMID:20307303 PMID:20625965 PMID:20848652 PMID:21465660 PMID:21479595 PMID:21840938 PMID:21846512 PMID:21945321 PMID:21989830 PMID:22224630 PMID:22266370 PMID:22276265 PMID:22326558 PMID:22464770 PMID:22700598 PMID:22918509 PMID:23062543 PMID:23183350 PMID:23299917 PMID:23313286 PMID:23328570 PMID:23349452 PMID:23427149 PMID:23497705 PMID:23582089 PMID:23783098 PMID:23846499 PMID:23853504 PMID:23861362 PMID:23977161 PMID:24001739 PMID:24002959 PMID:24024053 PMID:24033266 PMID:24055113 PMID:24058181 PMID:24108105 PMID:24375749 PMID:24503780 PMID:24623722 PMID:24721642 PMID:24768879 PMID:24846508 PMID:24861648 PMID:25214167 PMID:25286833 PMID:25324471 PMID:25371241 PMID:25524705 PMID:25525159 PMID:25617006 PMID:25637381 PMID:25741868 PMID:25823658 PMID:25885670 PMID:25982065 PMID:26027246 PMID:26084686 PMID:26183555 PMID:26220970 PMID:26332594 PMID:26383259 PMID:26467025 PMID:26602028 PMID:26662654 PMID:26688388 PMID:26724531 PMID:26733286 PMID:26752647 PMID:26756202 PMID:26899768 PMID:26976018 PMID:27100822 PMID:27332903 PMID:27374873 PMID:27421120 PMID:27504462 PMID:27506821 PMID:27532257 PMID:27585670 PMID:27650965 PMID:27707468 PMID:27723096 PMID:27813223 PMID:27841971 PMID:27854218 PMID:27884249 PMID:27896052 PMID:27919367 PMID:28074886 PMID:28255936 PMID:28341588 PMID:28416588 PMID:28492532 PMID:28531892 PMID:28641778 PMID:28663758 PMID:28679633 PMID:28688748 PMID:28751304 PMID:28785654 PMID:28790152 PMID:28874324 PMID:28878402 PMID:29040816 PMID:29149195 PMID:29237675 PMID:29438482 PMID:29620724 PMID:29693488 PMID:29791652 PMID:29892087 PMID:29943882 PMID:29952368 PMID:30007954 PMID:30012837 PMID:30137533 PMID:30165862 PMID:30287275 PMID:30326651 PMID:30402260 PMID:30420677 PMID:30528549 PMID:30564623 PMID:30847666 PMID:30871747 PMID:30901896 PMID:31194872 PMID:31303467 PMID:31383942 PMID:31447099 PMID:31476771 PMID:31514951 PMID:31525256 PMID:31744510 PMID:31829210 PMID:31836692 PMID:31857427 PMID:31977013 PMID:31980526 PMID:31983221 PMID:32004434 PMID:32009526 PMID:32012908 PMID:32041611 PMID:32376792 PMID:32456328 PMID:32475984 PMID:32727917 PMID:32746448 PMID:32818388 PMID:32880476 PMID:33258288 PMID:33407844 PMID:33422685 PMID:33458588 PMID:34135346 PMID:34680903 PMID:34768595 PMID:34999423 PMID:35535697 PMID:16046620 More...
RGD:12791023
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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Mmp9
matrix metallopeptidase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18554282
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Mafb
MAF bZIP transcription factor B
ISO
ClinVar Annotator: match by term: Multicentric carpo-tarsal osteolysis with or without nephropathy
OMIM ClinVar
PMID:20436469 PMID:22387013 PMID:24989131 PMID:25741868 PMID:28492532 PMID:30208859 More...
NCBI chr 3:148,998,111...149,000,031
Ensembl chr 3:148,998,122...149,000,031
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Banf1
BAF nuclear assembly factor 1
ISO
ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome
OMIM ClinVar
PMID:21549337 PMID:23720404 PMID:28492532
NCBI chr 1:202,672,170...202,674,215
Ensembl chr 1:202,671,305...202,674,188
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Eif1ad
eukaryotic translation initiation factor 1A domain containing
ISO
ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome
ClinVar
NCBI chr 1:202,674,362...202,679,662
Ensembl chr 1:202,674,185...202,679,658
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Antxr2
ANTXR cell adhesion molecule 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12973667
NCBI chr14:11,542,266...11,682,112
Ensembl chr14:11,541,772...11,682,094
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Ibsp
integrin-binding sialoprotein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22407340
NCBI chr14:5,439,825...5,452,570
Ensembl chr14:5,439,829...5,452,693
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Ifnl1
interferon, lambda 1
ameliorates
ISO
associated with Inflammation; human protein in a mouse model
RGD
PMID:32488049
RGD:126848774
NCBI chr 1:83,798,651...83,800,297
Ensembl chr 1:83,798,703...83,800,235
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Mmp2
matrix metallopeptidase 2
ISO
OMIM:277950, Winchester syndrome
RGD
PMID:16542393
RGD:1601416
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp7
matrix metallopeptidase 7
ISO
associated with Prostatic Neoplasms
RGD
PMID:15894268
RGD:9685352
NCBI chr 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902
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Pthlh
parathyroid hormone-like hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11054717
NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847
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Spp1
secreted phosphoprotein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22407340
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15878362
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf11b
TNF receptor superfamily member 11B
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12548581
NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
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Tnfsf11
TNF superfamily member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18606716
NCBI chr15:53,674,990...53,705,171
Ensembl chr15:53,673,877...53,705,445
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Lpcat2
lysophosphatidylcholine acyltransferase 2
ISO
ClinVar Annotator: match by term: Osteolysis, hereditary multicentric
ClinVar
NCBI chr19:14,088,389...14,152,742
Ensembl chr19:14,089,686...14,152,829
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Mmp2
matrix metallopeptidase 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Multicentric Osteolysis-Nodulosis-Arthropathy (MONA) Spectrum Disorders | ClinVar Annotator: match by term: NAO SYNDROME | ClinVar Annotator: match by term: Nodulosis arthropathy osteolysis syndrome | ClinVar Annotator: match by term: Osteolysis, hereditary multicentric | ClinVar Annotator: match by term: Torg-Winchester syndrome
OMIM CTD ClinVar
PMID:2625626 PMID:6525336 PMID:9536098 PMID:10356396 PMID:11431697 PMID:15691365 PMID:16458924 PMID:16542393 PMID:17059372 PMID:17400654 PMID:17576681 PMID:19019335 PMID:20617897 PMID:20673868 PMID:21421877 PMID:23313298 PMID:23378725 PMID:25600631 PMID:25704319 PMID:25741868 PMID:27182040 PMID:28492532 More...
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Abl1
ABL proto-oncogene 1, non-receptor tyrosine kinase
ISO
RGD
PMID:10700189
RGD:10047094
NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
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Ace
angiotensin I converting enzyme
IMP
associated with Hypertension
RGD
PMID:19590507
RGD:2325225
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Actg1
actin, gamma 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232
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Adcy5
adenylate cyclase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18029912
NCBI chr11:65,471,612...65,618,877
Ensembl chr11:65,471,612...65,618,974
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Ager
advanced glycosylation end product-specific receptor
ISO IEP
mRNA:increased expression:proximal end of left femur (rat)
RGD
PMID:21542009 PMID:22036861
RGD:6767561 , RGD:7245948
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Alpl
alkaline phosphatase, biomineralization associated
ISO
ClinVar Annotator: match by term: Osteoporosis
ClinVar
PMID:25741868 PMID:29236161 PMID:32973344
NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446
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Antxr2
ANTXR cell adhesion molecule 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12973667
NCBI chr14:11,542,266...11,682,112
Ensembl chr14:11,541,772...11,682,094
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Anxa2
annexin A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658
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Ar
androgen receptor
treatment
IDA ISO
RGD
PMID:14600402 PMID:18847323
RGD:10043196 , RGD:10043198
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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Atic
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889
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Atm
ATM serine/threonine kinase
ISO
RGD
PMID:16644862
RGD:10047420
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
G
Atp4b
ATPase H+/K+ transporting subunit beta
treatment
ISO
RGD
PMID:26869358
RGD:14696735
NCBI chr16:76,144,150...76,153,063
Ensembl chr16:76,144,150...76,153,063
G
Bax
BCL2 associated X, apoptosis regulator
treatment
IEP
RGD
PMID:22648569
RGD:10054093
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
G
Bcl2
BCL2, apoptosis regulator
treatment
IEP
RGD
PMID:22648569
RGD:10054093
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
G
Bglap
bone gamma-carboxyglutamate protein
susceptibility
IDA 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 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
G
Bmp2
bone morphogenetic protein 2
ISO
RGD
PMID:17002564
RGD:1625350
NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397
G
Calca
calcitonin-related polypeptide alpha
ISO
RGD
PMID:2502220
RGD:734677
NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105
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 RGD
PMID:9003491 PMID:9571205 PMID:9817931 PMID:23137636
RGD:10045665
NCBI chr 4:31,661,270...31,736,392
Ensembl chr 4:31,661,273...31,736,392
G
Cap1
cyclase associated actin cytoskeleton regulatory protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 5:135,142,108...135,168,885
Ensembl chr 5:135,142,112...135,168,769
G
Car2
carbonic anhydrase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 2:86,741,625...86,756,766
Ensembl chr 2:86,741,626...86,756,818
G
Cct2
chaperonin containing TCP1 subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 7:52,692,725...52,705,478
Ensembl chr 7:52,692,725...52,706,944
G
Ciita
class II, major histocompatibility complex, transactivator
ISS
OMIM:166710
MouseDO
NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440
G
Clec11a
C-type lectin domain containing 11A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27976999
NCBI chr 1:94,800,456...94,809,002
Ensembl chr 1:94,801,496...94,804,633
G
Col1a1
collagen type I alpha 1 chain
susceptibility
ISO
ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 1 | 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 associated with Beta-Thalassemia;DNA:SNP:intron:g.2046G>T (human) DNA:SNP, haplotype:intron:g.2046G>T (human)
OMIM ClinVar RGD
PMID:2037280 PMID:2542316 PMID:7695699 PMID:7942841 PMID:8218237 PMID:8408653 PMID:8456808 PMID:8613526 PMID:8669434 PMID:8808594 PMID:9016532 PMID:9067755 PMID:9295084 PMID:9443882 PMID:9536098 PMID:10739762 PMID:10931857 PMID:11113887 PMID:11317364 PMID:12362985 PMID:12590186 PMID:15024692 PMID:15024745 PMID:15241796 PMID:15741671 PMID:15864348 PMID:15931785 PMID:16199547 PMID:17078022 PMID:17309652 PMID:17392686 PMID:17576681 PMID:18272325 PMID:18412368 PMID:18553566 PMID:18704262 PMID:18996919 PMID:19344236 PMID:19358256 PMID:19491628 PMID:20981092 PMID:21249479 PMID:21567126 PMID:21594610 PMID:21667357 PMID:22206639 PMID:22589248 PMID:22753364 PMID:22855962 PMID:23265383 PMID:23587214 PMID:23692737 PMID:24390061 PMID:24767406 PMID:25086671 PMID:25597651 PMID:25741868 PMID:25944380 PMID:25963598 PMID:26177859 PMID:26467025 PMID:26627451 PMID:27044453 PMID:27132807 PMID:27146342 PMID:27509835 PMID:27519266 PMID:27748872 PMID:28378289 PMID:28492532 PMID:28725987 PMID:28810924 PMID:29499418 PMID:29595812 PMID:30614853 PMID:30692697 PMID:30715774 PMID:31304589 PMID:31447884 PMID:32166892 PMID:33228694 PMID:33928192 PMID:33939306 PMID:19143970 PMID:23137636 More...
RGD:11041180 , RGD:10045665
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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:2985635 PMID:7695699 PMID:7860070 PMID:8094076 PMID:8218237 PMID:9016532 PMID:9272740 PMID:9399846 PMID:9594376 PMID:9923651 PMID:15172002 PMID:16705691 PMID:16786509 PMID:17078022 PMID:18028452 PMID:19344236 PMID:21520333 PMID:22589248 PMID:25326637 PMID:25450603 PMID:25741868 PMID:25944380 PMID:26264438 PMID:26307460 PMID:26371943 PMID:26432670 PMID:26467025 PMID:26604951 PMID:27011056 PMID:27519266 PMID:28017821 PMID:28492532 PMID:29150909 PMID:30283887 PMID:30821104 PMID:32659730 More...
NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
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Ctsk
cathepsin K
ISO
RGD
PMID:10469835
RGD:734856
NCBI chr 2:183,058,586...183,069,551
Ensembl chr 2:183,058,569...183,069,550
G
Cxcr4
C-X-C motif chemokine receptor 4
ISO
RGD
PMID:29882473
RGD:14700776
NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
G
Cyp17a1
cytochrome P450, family 17, subfamily a, polypeptide 1
ISO
DNA:snps:multiple (human)
RGD
PMID:17002564
RGD:1625350
NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
G
Cyp19a1
cytochrome P450, family 19, subfamily a, polypeptide 1
ISO
DNA:snps:multiple (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20723554 PMID:17002564
RGD:1625350
NCBI chr 8:54,553,165...54,580,758
Ensembl chr 8:54,553,165...54,580,758
G
Cyp24a1
cytochrome P450, family 24, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22337913
NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383
G
Daam2
dishevelled associated activator of morphogenesis 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30598549
NCBI chr 9:11,428,913...11,546,982
Ensembl chr 9:11,428,724...11,545,497
G
Dbp
D-box binding PAR bZIP transcription factor
ISO
RGD
PMID:17002564
RGD:1625350
NCBI chr 1:96,175,796...96,180,745
Ensembl chr 1:96,175,440...96,180,745
G
Dspp
dentin sialophosphoprotein
IEP
protein:decreased expression:incisor dental pulp (rat)
RGD
PMID:23974864
RGD:12911019
NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672
G
Eno1
enolase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 5:160,719,951...160,731,337
Ensembl chr 5:160,719,951...160,731,336
G
Ercc1
ERCC excision repair 1, endonuclease non-catalytic subunit
ISO
RGD
PMID:23281008
RGD:10045609
NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
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Esr1
estrogen receptor 1
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 More...
RGD:10045665 , RGD:10045841 , RGD:10045839 , RGD:10045839 , RGD:10045834 , RGD:8694129 , RGD:10045828 , RGD:10045826 , RGD:10045825
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
G
Esr2
estrogen receptor 2
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 chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
G
Esrra
estrogen related receptor, alpha
ISO
RGD
PMID:19936213
RGD:10401868
NCBI chr 1:204,104,100...204,114,182
Ensembl chr 1:204,104,101...204,114,268
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Fbn1
fibrillin 1
ISO
ClinVar Annotator: match by term: Osteoporosis
ClinVar
PMID:25741868
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
G
Fga
fibrinogen alpha chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 2:168,365,364...168,381,533
Ensembl chr 2:168,374,120...168,381,528
G
Fgb
fibrinogen beta chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 2:168,394,901...168,402,863
Ensembl chr 2:168,394,916...168,405,979
G
G6pd
glucose-6-phosphate dehydrogenase
ISO
ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18
ClinVar
PMID:5448 PMID:1303173 PMID:1631957 PMID:1978554 PMID:2321910 PMID:2503817 PMID:2572288 PMID:2836867 PMID:3393536 PMID:3446582 PMID:4359638 PMID:4388132 PMID:6015571 PMID:7949118 PMID:8611726 PMID:8860013 PMID:8956035 PMID:9858856 PMID:10734064 PMID:12367584 PMID:12737938 PMID:14014720 PMID:14278484 PMID:16356170 PMID:18452027 PMID:21479984 PMID:21931771 PMID:22307442 PMID:22963789 PMID:23006493 PMID:23144702 PMID:25071003 PMID:25201310 PMID:25741868 PMID:26633385 PMID:26990548 PMID:27287612 PMID:27535533 PMID:27853304 PMID:27884173 PMID:28195434 PMID:28492532 PMID:28852037 PMID:29072585 PMID:29141760 PMID:30161219 PMID:30314477 PMID:31525211 PMID:33636823 More...
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
G
Gapdh
glyceraldehyde-3-phosphate dehydrogenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
G
Gh1
growth hormone 1
IEP
associated with Diabetes Mellitus, Experimental
RGD
PMID:1466160
RGD:10003132
NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
G
Ghr
growth hormone receptor
treatment
IEP
associated with Uremia;protein:altered expression:osteoblast, osteoclast, chondroblast associated with Cholestasis
RGD
PMID:17647196 PMID:19424739
RGD:10003128 , RGD:10003131
NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
G
Gorab
golgin, RAB6-interacting
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18997784
NCBI chr13:75,745,678...75,762,307
Ensembl chr13:75,745,680...75,762,298
G
Gpc6
glypican 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28869591
NCBI chr15:94,030,218...95,027,883
Ensembl chr15:94,029,884...95,024,006
G
Gpd2
glycerol-3-phosphate dehydrogenase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 3:41,800,552...41,937,729
Ensembl chr 3:41,801,930...41,936,901
G
Gpx1
glutathione peroxidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
G
Gsn
gelsolin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402
G
Gsr
glutathione-disulfide reductase
ISO
protein:decreased expression:blood
RGD
PMID:19464221
RGD:10401828
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
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 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
G
Hfe
homeostatic iron regulator
ISO
associated with hemochromatosis
RGD
PMID:26829642
RGD:14746963
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
G
Htr2c
5-hydroxytryptamine receptor 2C
ISO
ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18
ClinVar
PMID:24088041 PMID:26633545
NCBI chr X:110,640,777...110,870,288
Ensembl chr X:110,641,153...110,870,287
G
Id4
inhibitor of DNA binding 4
ISS
OMIM:166710
MouseDO
NCBI chr17:16,389,387...16,391,956
Ensembl chr17:16,389,387...16,392,470
G
Idh2
isocitrate dehydrogenase (NADP(+)) 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
G
Ifngr1
interferon gamma receptor 1
ISS
OMIM:166710
MouseDO
NCBI chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785
G
Igf1
insulin-like growth factor 1
treatment
ISO IEP
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 chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
G
Igf1r
insulin-like growth factor 1 receptor
ISO
RGD
PMID:18079194
RGD:10045888
NCBI chr 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
G
Igf2
insulin-like growth factor 2
treatment
IDA
RGD
PMID:12162999
RGD:10402555
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
G
Igfbp3
insulin-like growth factor binding protein 3
ISO
protein:decreased expression:serum
RGD
PMID:9284698
RGD:10402579
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
G
Il13ra2
interleukin 13 receptor subunit alpha 2
ISO
ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18
ClinVar
PMID:24088041 PMID:26633545
NCBI chr X:111,002,590...111,074,053
Ensembl chr X:111,002,592...111,072,381
G
Il1a
interleukin 1 alpha
ISO
associated with Arthritis, Rheumatoid
RGD
PMID:10555884
RGD:6907107
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
G
Il1b
interleukin 1 beta
IDA
RGD
PMID:22997530
RGD:7204491
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Il1rn
interleukin 1 receptor antagonist
treatment
ISO
human protein in a rat model
RGD
PMID:8182127
RGD:8551834
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
G
Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15995586
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Il6r
interleukin 6 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15995586
NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
G
Irak3
interleukin-1 receptor-associated kinase 3
ISS
OMIM:166710
MouseDO
NCBI chr 7:55,653,949...55,714,371
Ensembl chr 7:55,653,962...55,713,121
G
Irs1
insulin receptor substrate 1
IEP
mRNA, protein:decreased expression:multiple
RGD
PMID:22820932
RGD:7207063
NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122
G
Irs2
insulin receptor substrate 2
IEP
associated with Diabetes Mellitus, Type 2; protein:decreased expression:liver,kidney, muscle:
RGD
PMID:22820932
RGD:7207063
NCBI chr16:78,488,249...78,512,482
Ensembl chr16:78,485,045...78,512,482
G
Kl
Klotho
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:9363890 PMID:9363890
RGD:10403047
NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
G
Lep
leptin
treatment
ISO IDA IEP
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 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
G
Lepr
leptin receptor
susceptibility
ISO
DNA:polymorphisms:cds:p.K109R,Q223R(human)
RGD
PMID:23460508
RGD:10411886
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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 3:96,447,385...96,550,006
Ensembl chr 3:96,447,858...96,548,899
G
Lrch2
leucine rich repeats and calponin homology domain containing 2
ISO
ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18
ClinVar
PMID:24088041 PMID:26633545
NCBI chr X:111,091,728...111,174,225
Ensembl chr X:111,092,814...111,174,210
G
Lrp5
LDL receptor related protein 5
treatment
ISO IEP
ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 1 | ClinVar Annotator: match by term: High bone mass | ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL | ClinVar Annotator: match by term: Osteoporosis
ClinVar OMIM RGD
PMID:9536098 PMID:11719191 PMID:11741193 PMID:11793484 PMID:12015390 PMID:12579474 PMID:14727154 PMID:15024691 PMID:15077203 PMID:15141052 PMID:15201508 PMID:15619672 PMID:15767861 PMID:15777745 PMID:15824851 PMID:15824861 PMID:15850991 PMID:16252235 PMID:16679074 PMID:17052975 PMID:17137849 PMID:17202888 PMID:17223614 PMID:17306638 PMID:17307038 PMID:17395706 PMID:17505772 PMID:17576681 PMID:18058054 PMID:18349089 PMID:18588671 PMID:21528003 PMID:22456437 PMID:23441120 PMID:24423337 PMID:24706814 PMID:25711638 PMID:25741868 PMID:26348019 PMID:26467025 PMID:28420620 PMID:28492532 PMID:30452590 PMID:33118644 PMID:17002564 PMID:22704852 PMID:21977807 More...
RGD:1625350 , RGD:7240519 , RGD:12793063
NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
G
Ltf
lactotransferrin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16648989 PMID:16936800
NCBI chr 8:110,999,948...111,022,795
Ensembl chr 8:110,999,948...111,022,795
G
Luzp4
leucine zipper protein 4
ISO
ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18
ClinVar
PMID:24088041 PMID:26633545
NCBI chr X:111,280,490...111,321,363
Ensembl chr X:111,280,549...111,321,359
G
Mapk14
mitogen activated protein kinase 14
treatment
IMP
RGD
PMID:18442314
RGD:10045965
NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589
G
Mgll
monoglyceride lipase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 4:121,192,187...121,294,187
Ensembl chr 4:121,192,195...121,294,179
G
Mir152
microRNA 152
IEP
miRNA:increased expression:femur
RGD
PMID:31492082
RGD:21066345
NCBI chr10:81,832,936...81,833,020
Ensembl chr10:81,832,936...81,833,020
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Mir448
microRNA 448
ISO
ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18
ClinVar
PMID:24088041 PMID:26633545
NCBI chr X:110,829,918...110,830,029
Ensembl chr X:110,829,918...110,830,029
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Mmp9
matrix metallopeptidase 9
ISO
associated with osteoporosis; protein:increased expression:serum
RGD
PMID:19411568
RGD:5129553
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Myc
MYC proto-oncogene, bHLH transcription factor
IDA
RGD
PMID:22704852
RGD:7240519
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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Nog
noggin
ISO
RGD
PMID:12975477
RGD:10414323
NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
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Nrip1
nuclear receptor interacting protein 1
ISO
DNA:silent mutation, haplotype:p.G75G (human)
RGD
PMID:16530497
RGD:10045825
NCBI chr11:14,895,843...14,979,490
Ensembl chr11:14,895,553...14,981,761
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Opa1
OPA1, mitochondrial dynamin like GTPase
ISO
ClinVar Annotator: match by term: Osteoporosis
ClinVar
PMID:25741868
NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
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Oxct1
3-oxoacid CoA transferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 2:53,236,370...53,384,715
Ensembl chr 2:53,236,368...53,384,714
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P4hb
prolyl 4-hydroxylase subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr10:105,836,972...105,848,583
Ensembl chr10:105,836,982...105,848,500
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Park7
Parkinsonism associated deglycase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970
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Pcna
proliferating cell nuclear antigen
IEP
protein:increased expression:osteoblast:
RGD
PMID:22550338
RGD:10045656
NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995
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Pdlim4
PDZ and LIM domain 4
ISO
ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 15
ClinVar OMIM
PMID:12908099
NCBI chr10:38,198,686...38,212,935
Ensembl chr10:38,198,689...38,212,938
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Pgls
6-phosphogluconolactonase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr16:18,300,317...18,305,803
Ensembl chr16:18,300,317...18,305,803
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Pkm
pyruvate kinase M1/2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 8:60,057,629...60,079,600
Ensembl chr 8:60,057,402...60,079,599
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Plek
pleckstrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr14:91,397,015...91,429,693
Ensembl chr14:91,397,019...91,454,131
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Pls3
plastin 3
ISO
ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18
OMIM ClinVar
PMID:24088041 PMID:24088043 PMID:25741868 PMID:26633545 PMID:28492532
NCBI chr X:111,589,193...111,683,908
Ensembl chr X:111,589,254...111,683,891
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Pnp
purine nucleoside phosphorylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr15:24,170,456...24,178,274
Ensembl chr15:24,170,602...24,203,986
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3017235 PMID:4367732 PMID:6143199 PMID:6254450 PMID:19153526
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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Prdx3
peroxiredoxin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 1:260,001,642...260,014,064
Ensembl chr 1:260,001,637...260,014,111
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Psma2
proteasome 20S subunit alpha 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr17:50,554,536...50,564,923
Ensembl chr17:50,551,924...50,564,938
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Psma5
proteasome 20S subunit alpha 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 2:195,896,369...195,919,733
Ensembl chr 2:195,896,365...195,919,731
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Ptger4
prostaglandin E receptor 4
treatment
IMP
RGD
PMID:16442794
RGD:10043381
NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670
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Pth
parathyroid hormone
treatment
IDA ISO IEP
CTD Direct Evidence: therapeutic protein:decreased expression:serum (rat)
CTD RGD
PMID:15710971 PMID:17317460 PMID:17882678 PMID:19578808 PMID:21306167 PMID:30639440 PMID:23161222 PMID:22312238 More...
RGD:7242793 , RGD:7242907
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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Rab7b
Rab7b, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr13:43,121,168...43,147,581
Ensembl chr13:43,121,226...43,147,581
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Ren
renin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18847324
NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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Rsu1
Ras suppressor protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr17:76,128,774...76,377,515
Ensembl chr17:76,188,812...76,377,454
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Ryr1
ryanodine receptor 1
ISO
ClinVar Annotator: match by term: Osteoporosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
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Serpinf1
serpin family F member 1
ISO
ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 1 | ClinVar Annotator: match by term: Osteoporosis
ClinVar
PMID:25741868 PMID:28492532 PMID:29150909 PMID:30968248
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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Sirt1
sirtuin 1
treatment
IDA IMP
RGD
PMID:22555620 PMID:25377437
RGD:10047129 , RGD:10053568
NCBI chr20:25,307,143...25,329,260
Ensembl chr20:25,306,917...25,329,260
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Sod2
superoxide dismutase 2
susceptibility no_association
ISO
DNA:SNPs:intron, exon:g.31A>G, g.327C>T (p.A16V) (rs5746094, rs4880) (human) CTD Direct Evidence: marker/mechanism DNA:SNPs:5' utr, exon, intron:multiple
CTD RGD
PMID:18924182 PMID:26336112 PMID:26336112
RGD:11035299 , RGD:11035299
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Terc
telomerase RNA component
ISS
OMIM:166710
MouseDO
NCBI chr 2:112,815,654...112,816,041
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Tgfb1
transforming growth factor, beta 1
treatment
IEP ISO
associated with Uremia;protein:increased expression:osteoblast, osteoclast CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12706579 PMID:17647196
RGD:10003128
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tln1
talin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 5:57,787,670...57,817,900
Ensembl chr 5:57,787,943...57,817,900
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Tnfrsf11a
TNF receptor superfamily member 11A
ISO
RGD
PMID:17002564
RGD:1625350
NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695
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Tnfrsf11b
TNF receptor superfamily member 11B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17667143
NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
RGD
PMID:17002564
RGD:1625350
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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Tnfsf11
TNF superfamily member 11
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:17882678 PMID:17002564
RGD:1625350
NCBI chr15:53,674,990...53,705,171
Ensembl chr15:53,673,877...53,705,445
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Tpi1
triosephosphate isomerase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541
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Tpm4
tropomyosin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr16:17,684,415...17,698,456
Ensembl chr16:17,683,195...17,705,984
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Tuba1b
tubulin, alpha 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 7:130,090,669...130,093,644
Ensembl chr 7:130,081,032...130,196,186
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Tuba1c
tubulin, alpha 1C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 7:130,192,050...130,199,655
Ensembl chr 7:130,192,016...130,199,647
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U2af1
U2 small nuclear RNA auxiliary factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr20:9,742,904...9,753,840
Ensembl chr20:9,742,905...9,753,832
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Ugt2b17
UDP glucuronosyltransferase family 2 member B17
ISO
ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 12
ClinVar OMIM
PMID:18992858
NCBI chr14:21,024,035...21,035,784
Ensembl chr14:21,024,006...21,035,986
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Vcl
vinculin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,265,815...3,355,606
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Vdr
vitamin D receptor
no_association
ISO ISS
associated with Cystic Fibrosis OMIM:166710
MouseDO RGD
PMID:16713399
RGD:4889871
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Wdr1
WD repeat domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr14:72,258,032...72,291,768
Ensembl chr14:72,257,956...72,291,766
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Wnt1
Wnt family member 1
susceptibility
ISO
ClinVar Annotator: match by term: OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Osteoporosis CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:23499309 PMID:23656646 PMID:25741868
NCBI chr 7:129,938,604...129,942,651
Ensembl chr 7:129,938,604...129,942,651
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Zdhhc13
zinc finger DHHC-type palmitoyltransferase 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20548961
NCBI chr 1:98,487,309...98,525,906
Ensembl chr 1:98,487,358...98,525,905
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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:34450031
NCBI chr 8:99,161,324...99,183,452
Ensembl chr 8:99,161,350...99,185,197
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Pdgfrb
platelet derived growth factor receptor beta
ISO
ClinVar Annotator: match by term: PENTTINEN SYNDROME | ClinVar Annotator: match by term: Premature aging syndrome, Penttinen type
OMIM ClinVar
PMID:9056558 PMID:9536098 PMID:15054839 PMID:17576681 PMID:23720404 PMID:23731537 PMID:23731542 PMID:25741868 PMID:26279204 PMID:26455322 PMID:28183292 PMID:28334876 PMID:28492532 PMID:31017643 More...
NCBI chr18:54,500,002...54,538,843
Ensembl chr18:54,499,964...54,538,843
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Acp5
acid phosphatase 5, tartrate resistant
IEP
protein:increased expression:femur (rat)
RGD
PMID:19736603
RGD:2315910
NCBI chr 8:20,663,984...20,670,604
Ensembl chr 8:20,663,985...20,667,929
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Ar
androgen receptor
ISO
RGD
PMID:12593895
RGD:1578682
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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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:16,169,123...16,174,187
Ensembl chr X:16,169,123...16,174,187
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Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17227729
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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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 PMID:8408653 PMID:8669434 PMID:8808594 PMID:9016532 PMID:9067755 PMID:9295084 PMID:9443882 PMID:10931857 PMID:12590186 PMID:15024692 PMID:15241796 PMID:15864348 PMID:15931785 PMID:16199547 PMID:16879195 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:22855962 PMID:24390061 PMID:25086671 PMID:25741868 PMID:25944380 PMID:25963598 PMID:26177859 PMID:26467025 PMID:27509835 PMID:27510842 PMID:27519266 PMID:28378289 PMID:28492532 PMID:28810924 PMID:32166892 PMID:33228694 PMID:33928192 PMID:33939306 More...
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Col1a2
collagen type I alpha 2 chain
ISO
ClinVar Annotator: match by term: Postmenopausal osteoporosis
ClinVar
PMID:1463018 PMID:1978725 PMID:2052622 PMID:2985635 PMID:7695699 PMID:7860070 PMID:8094076 PMID:8218237 PMID:8786074 PMID:9016532 PMID:9272740 PMID:9399846 PMID:9594376 PMID:9923651 PMID:15172002 PMID:16705691 PMID:16786509 PMID:17078022 PMID:18028452 PMID:19344236 PMID:21520333 PMID:22589248 PMID:25326637 PMID:25450603 PMID:25741868 PMID:25944380 PMID:26264438 PMID:26307460 PMID:26432670 PMID:26604951 PMID:27011056 PMID:27519266 PMID:28017821 PMID:28492532 PMID:30283887 PMID:32659730 More...
NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
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Cyp19a1
cytochrome P450, family 19, subfamily a, polypeptide 1
ISO
DNA:snps:exon:multiple (human)
RGD
PMID:17118999
RGD:1600860
NCBI chr 8:54,553,165...54,580,758
Ensembl chr 8:54,553,165...54,580,758
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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:8158082 , RGD:10045838
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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Esr2
estrogen receptor 2
susceptibility
ISO
DNA:SNP: :-1213T>C (human) DNA:repeat:intron:IVS5-3919(CA)18-26 (human) DNA:SNP, haplotype:3'utr:*39A>G (human)
RGD
PMID:16777502 PMID:17945165 PMID:22335445
RGD:1626507 , RGD:10045847 , RGD:10045849
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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Fdps
farnesyl diphosphate synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31774873
NCBI chr 2:174,497,402...174,507,031
Ensembl chr 2:174,486,665...174,507,776
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Fgf23
fibroblast growth factor 23
ISO
protein:increased expression: :
RGD
PMID:24101107
RGD:10044241
NCBI chr 4:159,914,393...159,922,073
Ensembl chr 4:159,914,272...159,923,821
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Hif1a
hypoxia inducible factor 1 subunit alpha
treatment
IMP ISO
RGD
PMID:24023068 PMID:18067744
RGD:10402191 , RGD:10402540
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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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 PMID:28492532 PMID:31099171 PMID:31159867 PMID:32383316 More...
NCBI chr 1:196,045,836...196,052,554
Ensembl chr 1:196,045,666...196,047,232
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Igf1
insulin-like growth factor 1
ISO
protein:decreased expression:serum:
RGD
PMID:11063288
RGD:10045861
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Igf2
insulin-like growth factor 2
treatment
ISO
RGD
PMID:16753016
RGD:10402556
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9032749
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9032749
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Il7
interleukin 7
treatment
ISO
RGD
PMID:23662133
RGD:10402930
NCBI chr 2:94,235,219...94,280,075
Ensembl chr 2:94,234,766...94,280,075
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Lrp5
LDL receptor related protein 5
ISO
ClinVar Annotator: match by term: Postmenopausal osteoporosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
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Nrip1
nuclear receptor interacting protein 1
susceptibility
ISO
DNA:silent mutation:cds:p.G75G (human)
RGD
PMID:22335445
RGD:10045849
NCBI chr11:14,895,843...14,979,490
Ensembl chr11:14,895,553...14,981,761
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Pls3
plastin 3
ISO
ClinVar Annotator: match by term: Postmenopausal osteoporosis
ClinVar
PMID:25741868
NCBI chr X:111,589,193...111,683,908
Ensembl chr X:111,589,254...111,683,891
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Ptger4
prostaglandin E receptor 4
treatment
IMP
RGD
PMID:11917107
RGD:10003045
NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670
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Pth
parathyroid hormone
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20567999
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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Ptk2b
protein tyrosine kinase 2 beta
IMP
RGD
PMID:17537919
RGD:1642610
NCBI chr15:40,360,722...40,481,235
Ensembl chr15:40,360,723...40,481,282
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10750555
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9032749
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Vdr
vitamin D receptor
treatment
ISO
DNA:SNP:exon: (rs2228570) (human)
GAD RGD
PMID:15118671 PMID:16604479
RGD:1331525 , RGD:8158082
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Ifih1
interferon induced with helicase C domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456
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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:21070929 PMID:24686847 PMID:24995871 PMID:25620204 PMID:25741868 PMID:26833990 PMID:28166811 PMID:28319323 PMID:28475458 PMID:28492532 PMID:28606988 PMID:28716935 PMID:29018476 PMID:30219631 PMID:30564185 PMID:31898846 PMID:34185153 More...
NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456
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Rig1
RNA sensor RIG-1
ISO
ClinVar Annotator: match by term: Singleton-Merten syndrome 2
OMIM ClinVar
PMID:25620203 PMID:25741868 PMID:28492532
NCBI chr 5:55,321,229...55,369,947
Ensembl chr 5:55,321,235...55,370,819
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Ddr2
discoidin domain receptor tyrosine kinase 2
ISO
ClinVar Annotator: match by term: Warburg-cinotti syndrome
OMIM ClinVar
PMID:17103436 PMID:23637089 PMID:25741868 PMID:28492532 PMID:30449416
NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
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Lpcat2
lysophosphatidylcholine acyltransferase 2
ISO
ClinVar Annotator: match by term: Winchester-Grossman syndrome
ClinVar
NCBI chr19:14,088,389...14,152,742
Ensembl chr19:14,089,686...14,152,829
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Mmp14
matrix metallopeptidase 14
ISO
ClinVar Annotator: match by term: Winchester syndrome
OMIM ClinVar
PMID:4238825 PMID:22922033 PMID:25741868
NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
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Mmp2
matrix metallopeptidase 2
ISO
ClinVar Annotator: match by term: Winchester-Grossman syndrome
ClinVar
PMID:2625626 PMID:6525336 PMID:9536098 PMID:10356396 PMID:11431697 PMID:15691365 PMID:16458924 PMID:16542393 PMID:17059372 PMID:17576681 PMID:19019335 PMID:20617897 PMID:20673868 PMID:21421877 PMID:23313298 PMID:23378725 PMID:25600631 PMID:25704319 PMID:25741868 PMID:27182040 PMID:28492532 More...
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all