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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


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degenerative disc disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAN aggrecan treatment ISO associated with Renal Insufficiency
mRNA:decreased expression:intervertebral disk 		RGD PMID:19063844 PMID:24285589 RGD:10043178 RGD:11570539 NCBI chr 7:54,449,830...54,520,606
Ensembl chr 7:54,449,816...54,519,194 		JBrowse link
G ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif 4 ISO RGD PMID:22394620 RGD:10043115 NCBI chr 4:89,260,354...89,269,238
Ensembl chr 4:89,260,461...89,269,244 		JBrowse link
G ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 ISO mRNA:increased expression:intervertebral disk of cervical vertebra RGD PMID:20948465 PMID:22394620 RGD:10043115 RGD:8661231 NCBI chr13:190,353,019...190,413,110
Ensembl chr13:190,361,744...190,413,110 		JBrowse link
G ASPN asporin susceptibility
severity		 ISO DNA:repeats:exon:
mRNA:increased expression:intervertebral disk:		 RGD PMID:18304494 PMID:19327154 RGD:9684961 RGD:9684970 NCBI chr 3:42,165,553...42,192,902
Ensembl chr 3:42,165,561...42,192,813 		JBrowse link
G BECN1 beclin 1 ISO protein:increased expression:intervertebral disc RGD PMID:22835012 RGD:11561942 NCBI chr12:20,041,914...20,054,249
Ensembl chr12:20,041,956...20,054,373 		JBrowse link
G COL10A1 collagen type X alpha 1 chain ISO RGD PMID:20948465 RGD:8661231 NCBI chr 1:81,766,829...81,773,818
Ensembl chr 1:81,765,859...81,773,818 		JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO DNA:SNP: :rs2075555 (human) RGD PMID:19180518 RGD:5688293 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004 		JBrowse link
G COL2A1 collagen type II alpha 1 chain treatment ISO associated with Renal Insufficiency
mRNA:decreased expression:intervertebral disc (rat)		 RGD PMID:19063844 PMID:20948465 PMID:24285589 RGD:10043178 RGD:11570539 RGD:8661231 NCBI chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,137...78,380,718 		JBrowse link
G CRK CRK proto-oncogene, adaptor protein treatment ISO RGD PMID:23055810 RGD:11568070 NCBI chr12:47,656,805...47,685,641
Ensembl chr12:47,657,865...47,685,908 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO associated with Progeria RGD PMID:20973062 RGD:13207419 NCBI chr 6:51,783,537...51,808,898
Ensembl chr 6:51,783,478...51,798,984 		JBrowse link
G GSK3B glycogen synthase kinase 3 beta ISO RGD PMID:29393545 RGD:13792726 NCBI chr13:140,136,109...140,370,197
Ensembl chr13:140,136,158...140,369,569 		JBrowse link
G MAP1LC3A microtubule associated protein 1 light chain 3 alpha ISO protein:increased expression:intervertebral disc RGD PMID:22835012 RGD:11561942 NCBI chr17:37,957,830...37,959,505
Ensembl chr17:37,957,507...37,959,505 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO RGD PMID:19916288 RGD:7207382 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076 		JBrowse link
G MMP13 matrix metallopeptidase 13 treatment ISO mRNA:increased expression:intervertebral disc
associated with Renal Insufficiency		 RGD PMID:19063844 PMID:20472983 PMID:20948465 RGD:10043178 RGD:2325859 RGD:8661231 NCBI chr 9:33,549,003...33,616,700
Ensembl chr 9:33,549,008...33,561,162 		JBrowse link
G NGF nerve growth factor ISO RGD PMID:20973063 RGD:5144150 NCBI chr 4:105,256,691...105,307,843
Ensembl chr 4:105,256,749...105,307,837 		JBrowse link
G NGFR nerve growth factor receptor ISO RGD PMID:20973063 RGD:5144150 NCBI chr12:25,699,410...25,720,355
Ensembl chr12:25,699,427...25,720,356 		JBrowse link
G PAPPA pappalysin 1 ISO protein:increased expression:vertebral disc: RGD PMID:18552658 RGD:10412724 NCBI chr 1:256,544,496...256,784,813
Ensembl chr 1:256,544,928...256,780,760 		JBrowse link
G POSTN periostin ISO protein:increased expression:tail intervertebral disc:
mRNA,protein:increased expression:nucleus pulposus:		 RGD PMID:23453657 RGD:10040995 NCBI chr11:13,225,183...13,258,973
Ensembl chr11:13,224,959...13,258,978 		JBrowse link
G SPARC secreted protein acidic and cysteine rich ISO CTD Direct Evidence: marker/mechanism CTD PMID:20714283 NCBI chr16:71,368,164...71,380,972
Ensembl chr16:71,357,586...71,381,161 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:21351055 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 treatment ISO associated with Renal Insufficiency RGD PMID:19063844 RGD:10043178 NCBI chr  X:42,103,251...42,106,289
Ensembl chr  X:42,102,172...42,106,296 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:34600870 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
Intervertebral Disc Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASPN asporin ISO OMIM NCBI chr 3:42,165,553...42,192,902
Ensembl chr 3:42,165,561...42,192,813 		JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO mRNA,protein:increased expression:neuron,macrophage: RGD PMID:24462503 RGD:8661788 NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,285,012...29,376,343 		JBrowse link
G CILP cartilage intermediate layer protein susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr 1:163,236,864...163,271,222
Ensembl chr 1:163,237,100...163,256,533 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain susceptibility ISO ClinVar Annotator: match by term: Intervertebral disc disease | ClinVar Annotator: match by term: Lumbar disc herniation, susceptibility to ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:17999364 PMID:25741868 PMID:26377240 More... NCBI chr 4:115,638,381...115,841,679
Ensembl chr 4:115,634,172...115,840,708 		JBrowse link
G COL1A1 collagen type I alpha 1 chain no_association ISO DNA:insertion
DNA:polymorphism		 RGD PMID:15994869 PMID:18694864 RGD:5688295 RGD:5688297 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004 		JBrowse link
G COL9A3 collagen type IX alpha 3 chain ISO ClinVar Annotator: match by term: Intervertebral disc disease | ClinVar Annotator: match by term: Intervertebral disc disease, susceptibility to ClinVar
OMIM		 PMID:11308397 PMID:24273071 PMID:25741868 PMID:28492532 PMID:31090205 More... NCBI chr17:62,074,108...62,094,228
Ensembl chr17:62,074,855...62,093,703 		JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:dorsal root ganglion, neuron, cytoplasm (rat) RGD PMID:21243740 RGD:9068928 NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,244...190,674,845 		JBrowse link
G MIR155 microRNA mir-155 treatment ISO miRNA:decreased expression:nucleus pulposus RGD PMID:27227700 RGD:24922221 NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902 		JBrowse link
G THBS2 thrombospondin 2 susceptibility ISO ClinVar Annotator: match by term: Lumbar disc herniation, susceptibility to OMIM
ClinVar		 PMID:18455130 PMID:25741868 NCBI chr 1:854,473...882,467
Ensembl chr 1:855,389...882,473 		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
G APOA4 apolipoprotein A4 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:16372267 RGD:5685665 NCBI chr 9:44,201,587...44,204,072
Ensembl chr 9:44,201,508...44,204,206 		JBrowse link
G BDNF brain derived neurotrophic factor ISO protein:increased expression:dorsal root ganglion: RGD PMID:14615047 RGD:8657329 NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,624,048...32,679,765 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17999364 NCBI chr 4:115,638,381...115,841,679
Ensembl chr 4:115,634,172...115,840,708 		JBrowse link
G CTSL cathepsin L ISO protein:increased expression:annulus fibrosus (rat) RGD PMID:15758467 RGD:2315595 NCBI chr10:27,668,523...27,674,705
Ensembl chr10:27,668,264...27,674,618 		JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO mRNA, protein:increased expression:spinal cord RGD PMID:21224760 RGD:4891907 NCBI chr 6:19,312,351...19,324,439 JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 ISO protein:increased expression:spinal cord RGD PMID:21224760 RGD:4891907 NCBI chr13:23,944,386...23,957,567
Ensembl chr13:23,944,369...23,957,486 		JBrowse link
G GC GC vitamin D binding protein ISO protein:increased expression:cerebrospinal fluid RGD PMID:16868893 RGD:5509883 NCBI chr 8:68,326,293...68,360,262
Ensembl chr 8:68,326,299...68,360,262 		JBrowse link
G HTR2A 5-hydroxytryptamine receptor 2A treatment ISO RGD PMID:25584948 RGD:401938625 NCBI chr11:20,555,939...20,620,225
Ensembl chr11:20,555,963...20,619,625 		JBrowse link
G IGF1 insulin like growth factor 1 ISO RGD PMID:21037532 RGD:8549460 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033 		JBrowse link
G IL1RL1 interleukin 1 receptor like 1 ISO protein:increased expression:spinal cord: RGD PMID:29329586 RGD:40400909 NCBI chr 3:51,868,549...51,902,454
Ensembl chr 3:51,846,792...51,951,383 		JBrowse link
G IL33 interleukin 33 ISO protein:increased expression:spinal cord: RGD PMID:29329586 RGD:40400909 NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840 		JBrowse link
G KMT2D lysine methyltransferase 2D severity ISO RGD PMID:32599142 RGD:155598599 NCBI chr 5:15,049,827...15,091,622 JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:24826482 RGD:10450584 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO human protein in rat model RGD PMID:21057386 RGD:5131270 NCBI chr 6:72,195,420...72,231,146
Ensembl chr 6:72,195,435...72,231,147 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      musculoskeletal system disease 7668
        bone disease 3783
          bone structure disease 126
            bone deterioration disease 42
              degenerative disc disease 42
                Intervertebral Disc Disease + 23
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      musculoskeletal system disease 7668
        connective tissue disease 5225
          bone disease 3783
            bone structure disease 126
              bone deterioration disease 42
                degenerative disc disease 42
                  Intervertebral Disc Disease + 23
paths to the root