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.
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Acvr2a
activin A receptor type 2A
IEP
RGD
PMID:9076583
RGD:2325239
NCBI chr 3:32,947,901...33,034,598
Ensembl chr 3:32,947,378...33,034,282
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Bmp4
bone morphogenetic protein 4
treatment
IEP IDA ISO
mRNA:increased expression:upper leg
RGD
PMID:10701160 , PMID:15352071 , PMID:12810166
RGD:2289025 , RGD:9068399 , RGD:8699510
NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
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Bmp7
bone morphogenetic protein 7
IEP ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16234978 , PMID:9626398
RGD:2289041
NCBI chr 3:170,879,972...170,955,820
Ensembl chr 3:170,879,973...170,955,399
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Bmpr2
bone morphogenetic protein receptor type 2
IEP
RGD
PMID:9626398
RGD:2289041
NCBI chr 9:66,568,074...66,683,019
Ensembl chr 9:66,568,074...66,676,494
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Col1a1
collagen type I alpha 1 chain
treatment
IDA
RGD
PMID:12412812
RGD:8552709
NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
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Csf2
colony stimulating factor 2
IEP
protein:increased expression:serum
RGD
PMID:21442011
RGD:5131471
NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070
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Cxcl1
C-X-C motif chemokine ligand 1
IEP
protein:increased expression:lung, serum
RGD
PMID:21442011
RGD:5131471
NCBI chr14:18,743,678...18,745,457
Ensembl chr14:18,743,685...18,745,457
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Cxcl12
C-X-C motif chemokine ligand 12
treatment
IEP
RGD
PMID:25181476
RGD:11352664
NCBI chr 4:149,261,044...149,273,891
Ensembl chr 4:149,261,044...149,273,891
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Cxcr4
C-X-C motif chemokine receptor 4
IMP
RGD
PMID:25181476
RGD:11352664
NCBI chr13:45,314,952...45,318,856
Ensembl chr13:45,314,933...45,318,878
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Dkk1
dickkopf WNT signaling pathway inhibitor 1
IMP
RGD
PMID:21773994
RGD:6907379
NCBI chr 1:248,952,896...248,956,579
Ensembl chr 1:248,895,738...248,898,607 Ensembl chr 1:248,895,738...248,898,607
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Fgf2
fibroblast growth factor 2
IEP
RGD
PMID:11704499
RGD:11567258
NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
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Fgfr1
Fibroblast growth factor receptor 1
IEP
RGD
PMID:11704499
RGD:11567258
NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
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Gdf5
growth differentiation factor 5
treatment
ISO
RGD
PMID:25543012
RGD:12738204
NCBI chr 3:151,482,672...151,487,129
Ensembl chr 3:151,483,249...151,486,693
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Il10
interleukin 10
IEP
protein:increased expression:serum
RGD
PMID:21442011
RGD:5131471
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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Il1a
interleukin 1 alpha
IEP
protein:increased expression:lung, serum
RGD
PMID:21442011
RGD:5131471
NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
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Il2
interleukin 2
IEP
protein:increased expression:serum
RGD
PMID:21442011
RGD:5131471
NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
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Il6
interleukin 6
IEP
protein:increased expression:serum
RGD
PMID:21442011
RGD:5131471
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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Lef1
lymphoid enhancer binding factor 1
IEP
mRNA:decreased expression:bone
RGD
PMID:16459154
RGD:2298720
NCBI chr 2:236,232,115...236,345,061
Ensembl chr 2:236,233,239...236,345,056
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Lep
leptin
IEP
RGD
PMID:21276361
RGD:5128517
NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
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Msx1
msh homeobox 1
IEP
mRNA, protein:increased expression:bone, osteoblast, chondrocyte
RGD
PMID:16451220
RGD:5132608
NCBI chr14:77,712,262...77,716,061
Ensembl chr14:77,712,240...77,716,059
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Msx2
msh homeobox 2
IEP
mRNA, protein:increased expression:bone, osteoblast, chondrocyte
RGD
PMID:16451220
RGD:5132608
NCBI chr17:11,683,862...11,689,527
Ensembl chr17:11,683,862...11,689,527
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Nf1
neurofibromin 1
ISO
mRNA,protein:increased expression:cartilage"
RGD
PMID:8820972
RGD:12789703
NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
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Postn
periostin
IEP
mRNA,protein:increased expression:bone:
RGD
PMID:19006175
RGD:10040956
NCBI chr 2:143,656,820...143,688,087
Ensembl chr 2:143,656,793...143,688,087
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S100b
S100 calcium binding protein B
IEP
protein:increased expression:blood
RGD
PMID:14504167
RGD:5509053
NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
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Il6
interleukin 6
IEP
protein:increased expression:serum:
RGD
PMID:18988309
RGD:8662979
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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Itgb3
integrin subunit beta 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17264806
NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
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Flnb
filamin B
ISO
ClinVar Annotator: match by term: Knee dislocations
ClinVar
PMID:25741868
NCBI chr15:18,750,152...18,883,019
Ensembl chr15:18,750,118...18,883,005
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Col2a1
collagen type II alpha 1 chain
ISO
ClinVar Annotator: match by term: Spondylometaphyseal dysplasia - Sutcliffe type
ClinVar
PMID:7695699 PMID:8218237 PMID:10612821 PMID:17163530 PMID:19344236 PMID:26443184 PMID:26626311 PMID:27888646 PMID:28492532 PMID:32200603
NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
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Fn1
fibronectin 1
ISO
ClinVar Annotator: match by term: Spondylometaphyseal dysplasia - Sutcliffe type
ClinVar OMIM
PMID:1677003 PMID:15666313 PMID:25741868 PMID:29100092 PMID:32200603
NCBI chr 9:78,900,111...78,969,018
Ensembl chr 9:78,900,103...78,969,078
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Bmp2
bone morphogenetic protein 2
IEP
protein:increased expression:tibia
RGD
PMID:16651391
RGD:2289037
NCBI chr 3:126,335,963...126,346,771
Ensembl chr 3:126,335,863...126,346,318
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Bmp3
bone morphogenetic protein 3
IEP
protein:increased expression:tibia
RGD
PMID:16651391
RGD:2289037
NCBI chr14:12,362,912...12,387,572
Ensembl chr14:12,359,363...12,387,102
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Bmp4
bone morphogenetic protein 4
IEP
protein:increased expression:tibia
RGD
PMID:16651391
RGD:2289037
NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
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Bmp6
bone morphogenetic protein 6
IEP
RGD
PMID:23097200
RGD:7242189
NCBI chr17:26,955,142...27,112,820
Ensembl chr17:26,955,142...27,112,820
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Bmp7
bone morphogenetic protein 7
IEP
protein:increased expression:tibia
RGD
PMID:16651391
RGD:2289037
NCBI chr 3:170,879,972...170,955,820
Ensembl chr 3:170,879,973...170,955,399
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Casp1
caspase 1
IEP
RGD
PMID:19853379
RGD:2315887
NCBI chr 8:2,605,743...2,614,637
Ensembl chr 8:2,604,962...2,614,631
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Il18
interleukin 18
IEP
protein:increased expression:skin
RGD
PMID:19853379
RGD:2315887
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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Pdgfb
platelet derived growth factor subunit B
treatment
ISO
associated with Osteoporosis;
RGD
PMID:17676626
RGD:10449446
NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
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Pgf
placental growth factor
ISO
RGD
PMID:16614757
RGD:6483602
NCBI chr 6:108,994,016...109,004,598
Ensembl chr 6:108,994,018...109,004,598
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Pth
parathyroid hormone
ISO
human protein in rat model
RGD
PMID:23585311
RGD:7242790
NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
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Tnfrsf11a
TNF receptor superfamily member 11A
IEP
associated with Diabetes Mellitus, Experimental
RGD
PMID:18592139
RGD:2302324
NCBI chr13:25,778,306...25,835,802
Ensembl chr13:25,778,317...25,835,957
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Tnfrsf11b
TNF receptor superfamily member 11B
IEP
associated with Diabetes Mellitus, Experimental
RGD
PMID:18592139
RGD:2302324
NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
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Tnfsf11
TNF superfamily member 11
IEP
associated with Diabetes Mellitus, Experimental
RGD
PMID:18592139
RGD:2302324
NCBI chr15:60,482,527...60,512,704
Ensembl chr15:60,482,527...60,512,704
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