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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Bmp4
bone morphogenetic protein 4
treatment
ISO
RGD
PMID:16447218
RGD:8699518
NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
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Col11a2
collagen type XI alpha 2 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11668593
NCBI chr20:3,829,324...3,859,022
Ensembl chr20:3,830,164...3,859,018
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Col2a1
collagen type II alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27028940
NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
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Edn1
endothelin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20707411
NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
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Fgf14
fibroblast growth factor 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11241832
NCBI chr15:110,382,274...111,077,027
Ensembl chr15:110,385,217...110,612,681
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Gata2
GATA binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20707411
NCBI chr 4:120,129,028...120,142,490
Ensembl chr 4:120,133,713...120,142,488
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Mmp3
matrix metallopeptidase 3
IEP
mRNA:increased expression:articular cartilage
RGD
PMID:20153826
RGD:2325860
NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
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Mt2A
metallothionein 2A
ISO
Auricular Chondritis; mRNA:increased expression:ear (mouse)
RGD
PMID:17606507
RGD:6483833
NCBI chr19:11,307,966...11,308,740
Ensembl chr19:11,307,967...11,308,740
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Nppc
natriuretic peptide C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17676597
NCBI chr 9:93,731,436...93,735,636
Ensembl chr 9:93,731,436...93,735,636
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Ltbp4
latent transforming growth factor beta binding protein 4
ISO
ClinVar Annotator: match by term: Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities ClinVar Annotator: match by OMIM:613177 ClinVar Annotator: match by null
OMIM ClinVar
PMID:19836010 PMID:22829427 PMID:23440719 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31115174
NCBI chr 1:84,118,046...84,152,095
Ensembl chr 1:84,118,046...84,150,084
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Erf
Ets2 repressor factor
ISO
ClinVar Annotator: match by term: Chitayat syndrome
OMIM ClinVar
PMID:8418638 PMID:25741868 PMID:27738187
NCBI chr 1:82,112,449...82,120,902
Ensembl chr 1:82,112,449...82,120,902
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Acan
aggrecan
ISO
OMIM
NCBI chr 1:140,762,758...140,824,441
Ensembl chr 1:140,762,758...140,824,441
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Mgp
matrix Gla protein
ISO
DNA:deletion,nonsense mutation, splice-site mutation:exon, intron:c.69delG, IVS1-2A>G, c.113T>A (human) ClinVar Annotator: match by term: Keutel syndrome ClinVar Annotator: match by null CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:245150
ClinVar OMIM CTD
PMID:9916809 PMID:15810001 PMID:21705322 PMID:25741868 PMID:28492532 , PMID:9916809
RGD:1600783
NCBI chr 4:170,856,783...170,860,105
Ensembl chr 4:170,856,751...170,860,225
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Nfix
nuclear factor I X
ISO
ClinVar Annotator: match by term: Laryngomalacia
ClinVar
PMID:25741868
NCBI chr19:25,818,640...25,914,777
Ensembl chr19:25,821,780...25,914,696
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Acan
aggrecan
ISO ISS
ClinVar Annotator: match by term: Osteochondritis dissecans OMIM:165800
ClinVar MouseDO
PMID:14216462 PMID:20137779 PMID:24762113 PMID:25741789 PMID:25741868 PMID:27710243 PMID:27870580 PMID:28331218 PMID:28492532
NCBI chr 1:140,762,758...140,824,441
Ensembl chr 1:140,762,758...140,824,441
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Fbn1
fibrillin 1
ISO
ClinVar Annotator: match by term: Pectus carinatum
ClinVar
PMID:25741868
NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
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Ifng
interferon gamma
ISO
protein:increased expression:ear
RGD
PMID:17606507
RGD:6483833
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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Tnf
tumor necrosis factor
ISO
protein:increased expression:ear
RGD
PMID:17606507
RGD:6483833
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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Mitf
melanocyte inducing transcription factor
ISO
RGD
PMID:10851256
RGD:1599943
NCBI chr 4:130,172,484...130,425,496
Ensembl chr 4:130,172,727...130,425,532
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all