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: Spinal Injuries
Accession: DOID:9001077
browse the term
Definition: Injuries involving the vertebral column.
Synonyms: exact_synonym: Spinal Injury
primary_id: MESH:D013124
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Adipoq
adiponectin, C1Q and collagen domain containing
susceptibility
ISO
DNA:SNP::rs1501299(human)
RGD
PMID:24570271
RGD:598092492
NCBI chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564
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Bglap
bone gamma-carboxyglutamate protein
disease_progression
ISO
associated with osteoporosis associated with Diabetes Mellitus, Type 2;
RGD
PMID:12697366 PMID:19641839
RGD:7207225 , RGD:7207248
NCBI chr 2:176,136,341...176,137,318
Ensembl chr 2:173,838,518...173,839,495
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Cer1
cerberus 1, DAN family BMP antagonist
susceptibility
ISO
DNA:SNPs: :rs3747532, rs1494360(human)
RGD
PMID:19113921
RGD:35673321
NCBI chr 5:102,352,364...102,355,720
Ensembl chr 5:97,306,431...97,309,783
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Esr1
estrogen receptor 1
no_association susceptibility
ISO
DNA:mutation, SNP:intron, exon: , 274G>C (human) DNA:SNPs, haplotype:intron:g.-397T>C, g.-351A>G (human)
RGD
PMID:12183765 PMID:12915669
RGD:10045833 , RGD:10045836
NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002
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Igfbp3
insulin-like growth factor binding protein 3
ISO
associated with Osteoporosis;protein:decreased expression:serum
RGD
PMID:9258758
RGD:10402578
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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Lepr
leptin receptor
susceptibility
ISO
DNA:SNP:cds:p.Q223R(human)
RGD
PMID:17243864
RGD:10411889
NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:116,289,823...116,475,908
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Runx2
RUNX family transcription factor 2
susceptibility
ISO
DNA:SNP::In rs7771980(human)
RGD
PMID:24570271
RGD:598092492
NCBI chr 9:23,661,278...23,990,248
Ensembl chr 9:16,167,482...16,492,167
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S100b
S100 calcium binding protein B
ISO
protein:increased expression:serum
RGD
PMID:20304889
RGD:5508786
NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
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Vdr
vitamin D receptor
susceptibility
ISO
DNA:mutations, haplotype:intron, exon: (human)
RGD
PMID:12915669
RGD:10045836
NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677
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