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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:degenerative disc disease
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Accession:DOID:90 term browser browse the term
Definition:A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc. (DO)
Synonyms:exact_synonym: Degenerative Intervertebral Disc;   Degenerative Intervertebral Disk;   Disc Degeneration;   Disc Degenerations;   Disc Degradation;   Disc Degradations;   Disk Degeneration;   Disk Degenerations;   Disk Degradation;   Disk Degradations;   Intervertebral Disc Degeneration;   Intervertebral Disc Degenerations;   degenerative intervertebral discs;   degenerative intervertebral disks;   intervertebral disc degradation;   intervertebral disk degeneration;   intervertebral disk degenerations;   vertebral disc disease
 narrow_synonym: cervical disc degenerative disease;   lumbar disc degeneration
 primary_id: MESH:D055959
 xref: EFO:0004994;   EFO:0009537;   NCI:C27156


show annotations for term's descendants           Sort by:
degenerative disc disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acan aggrecan treatment IDA
IEP		 associated with Renal Insufficiency
mRNA:decreased expression:intervertebral disk 		RGD PMID:19063844 PMID:24285589 RGD:10043178, RGD:11570539 NCBI chr 1:132,981,582...133,044,416
Ensembl chr 1:132,981,582...133,043,627 		JBrowse link
G Adamts4 ADAM metallopeptidase with thrombospondin type 1 motif, 4 IEP RGD PMID:22394620 RGD:10043115 NCBI chr13:83,670,556...83,680,045
Ensembl chr13:83,670,183...83,680,065 		JBrowse link
G Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 IEP mRNA:increased expression:intervertebral disk of cervical vertebra RGD PMID:20948465 PMID:22394620 RGD:8661231, RGD:10043115 NCBI chr11:25,000,627...25,047,205
Ensembl chr11:25,000,637...25,047,205 		JBrowse link
G Aspn asporin severity
susceptibility		 ISO mRNA:increased expression:intervertebral disk:
DNA:repeats:exon:		 RGD PMID:19327154 PMID:18304494 RGD:9684961, RGD:9684970 NCBI chr17:15,079,910...15,104,369
Ensembl chr17:15,080,639...15,104,041 		JBrowse link
G Becn1 beclin 1 IEP protein:increased expression:intervertebral disc RGD PMID:22835012 RGD:11561942 NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742 		JBrowse link
G Col10a1 collagen type X alpha 1 chain IEP RGD PMID:20948465 RGD:8661231 NCBI chr20:38,183,103...38,189,488
Ensembl chr20:38,182,494...38,189,494 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO DNA:SNP: :rs2075555 (human) RGD PMID:19180518 RGD:5688293 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col2a1 collagen type II alpha 1 chain treatment IEP
IDA		 mRNA:decreased expression:intervertebral disc (rat)
associated with Renal Insufficiency		 RGD PMID:20948465 PMID:24285589 PMID:19063844 RGD:8661231, RGD:11570539, RGD:10043178 NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Crk CRK proto-oncogene, adaptor protein treatment IEP RGD PMID:23055810 RGD:11568070 NCBI chr10:60,530,469...60,556,703
Ensembl chr10:60,530,464...60,553,406 		JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO associated with Progeria RGD PMID:20973062 RGD:13207419 NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963 		JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit treatment IEP RGD PMID:29208967 RGD:405650595 NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036 		JBrowse link
G Gsk3b glycogen synthase kinase 3 beta ISO RGD PMID:29393545 RGD:13792726 NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646 		JBrowse link
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha IEP protein:increased expression:intervertebral disc RGD PMID:22835012 RGD:11561942 NCBI chr 3:143,783,024...143,784,670
Ensembl chr 3:143,783,024...143,784,670 		JBrowse link
G Mmp1 matrix metallopeptidase 1 IDA RGD PMID:19916288 RGD:7207382 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mmp13 matrix metallopeptidase 13 treatment IEP
IDA		 mRNA:increased expression:intervertebral disc
associated with Renal Insufficiency		 RGD PMID:20948465 PMID:19063844 PMID:20472983 RGD:8661231, RGD:10043178, RGD:2325859 NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239 		JBrowse link
G Mmp3 matrix metallopeptidase 3 treatment IEP mRNA:increased expression:intervertebral disc RGD PMID:20472983 PMID:20948465 RGD:2325859, RGD:8661231 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
G Ngf nerve growth factor IMP RGD PMID:20973063 RGD:5144150 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452 		JBrowse link
G Ngfr nerve growth factor receptor IMP RGD PMID:20973063 RGD:5144150 NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518 		JBrowse link
G Pappa pappalysin ISO protein:increased expression:vertebral disc: RGD PMID:18552658 RGD:10412724 NCBI chr 5:78,497,660...78,735,873
Ensembl chr 5:78,498,300...78,730,666 		JBrowse link
G Postn periostin IEP
ISO		 protein:increased expression:tail intervertebral disc:
mRNA,protein:increased expression:nucleus pulposus:		 RGD PMID:23453657 PMID:23453657 RGD:10040995, RGD:10040995 NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099 		JBrowse link
G Sparc secreted protein acidic and cysteine rich ISO CTD Direct Evidence: marker/mechanism CTD PMID:20714283 NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:21351055 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 treatment IDA associated with Renal Insufficiency RGD PMID:19063844 RGD:10043178 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:34600870 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
Intervertebral Disc Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspn asporin susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
OMIM		 NCBI chr17:15,079,910...15,104,369
Ensembl chr17:15,080,639...15,104,041 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 IEP mRNA,protein:increased expression:neuron,macrophage: RGD PMID:24462503 RGD:8661788 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100 		JBrowse link
G Cilp cartilage intermediate layer protein susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr 8:65,777,281...65,792,251
Ensembl chr 8:65,777,281...65,792,251 		JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Intervertebral disc disease | ClinVar Annotator: match by term: Lumbar disc herniation, susceptibility to		 CTD
OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:17999364 PMID:25741868 PMID:26377240 More... NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853 		JBrowse link
G Col1a1 collagen type I alpha 1 chain no_association ISO DNA:insertion
DNA:polymorphism		 RGD PMID:18694864 PMID:15994869 RGD:5688295, RGD:5688297 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col9a3 collagen type IX alpha 3 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Intervertebral disc disease | ClinVar Annotator: match by term: Intervertebral disc disease, susceptibility to		 CTD
OMIM
ClinVar		 PMID:11308397 PMID:24273071 PMID:25741868 PMID:28492532 PMID:31090205 More... NCBI chr 3:167,711,776...167,734,468
Ensembl chr 3:167,711,840...167,734,465 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha IEP protein:increased expression:dorsal root ganglion, neuron, cytoplasm (rat) RGD PMID:21243740 RGD:9068928 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Mir155 microRNA 155 treatment ISO miRNA:decreased expression:nucleus pulposus RGD PMID:27227700 PMID:27227700 RGD:24922221, RGD:24922221 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718 		JBrowse link
G Thbs2 thrombospondin 2 susceptibility ISO ClinVar Annotator: match by term: Lumbar disc herniation, susceptibility to
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18455130 PMID:25741868 NCBI chr 1:55,670,394...55,699,789
Ensembl chr 1:55,670,394...55,699,789 		JBrowse link
Intervertebral Disc Displacement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 AKT serine/threonine kinase 1 disease_progression ISO RGD PMID:21590431 RGD:5509092 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921 		JBrowse link
G Apoa4 apolipoprotein A4 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:16372267 RGD:5685665 NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469 		JBrowse link
G Bdnf brain-derived neurotrophic factor IEP protein:increased expression:dorsal root ganglion: RGD PMID:14615047 RGD:8657329 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17999364 NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853 		JBrowse link
G Ctsl cathepsin L IEP protein:increased expression:annulus fibrosus (rat) RGD PMID:15758467 RGD:2315595 NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548 		JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 IEP mRNA, protein:increased expression:spinal cord RGD PMID:21224760 RGD:4891907 NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833 		JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 IEP protein:increased expression:spinal cord RGD PMID:21224760 RGD:4891907 NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014 		JBrowse link
G Gc GC, vitamin D binding protein ISO protein:increased expression:cerebrospinal fluid RGD PMID:16868893 RGD:5509883 NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567 		JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A treatment IEP RGD PMID:25584948 RGD:401938625 NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928 		JBrowse link
G Igf1 insulin-like growth factor 1 IMP RGD PMID:21037532 RGD:8549460 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 IEP protein:increased expression:spinal cord: RGD PMID:29329586 RGD:40400909 NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256 		JBrowse link
G Il33 interleukin 33 IEP protein:increased expression:spinal cord: RGD PMID:29329586 RGD:40400909 NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373 		JBrowse link
G Kmt2d lysine methyltransferase 2D severity ISO RGD PMID:32599142 RGD:155598599 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
G Mir223 microRNA 223 disease_progression ISO RGD PMID:28460630 RGD:25823200 NCBI chr  X:61,141,887...61,141,996
Ensembl chr  X:61,141,887...61,141,996 		JBrowse link
G Tnf tumor necrosis factor IEP RGD PMID:24826482 RGD:10450584 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO human protein in rat model RGD PMID:21057386 RGD:5131270 NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206 		JBrowse link
G Vdr vitamin D receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      musculoskeletal system disease 8306
        bone disease 4302
          bone structure disease 129
            bone deterioration disease 46
              degenerative disc disease 46
                Intervertebral Disc Disease + 25
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      musculoskeletal system disease 8306
        connective tissue disease 5787
          bone disease 4302
            bone structure disease 129
              bone deterioration disease 46
                degenerative disc disease 46
                  Intervertebral Disc Disease + 25
paths to the root