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 chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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Col11a2
collagen type XI alpha 2 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11668593
NCBI chr20:4,786,929...4,816,598
Ensembl chr20:4,786,929...4,815,985
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Col2a1
collagen type II alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27028940
NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
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Edn1
endothelin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20707411
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Fgf14
fibroblast growth factor 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11241832
NCBI chr15:101,045,038...101,679,888
Ensembl chr15:101,045,036...101,679,900
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Gata2
GATA binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20707411
NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761
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Mmp3
matrix metallopeptidase 3
IEP
mRNA:increased expression:articular cartilage
RGD
PMID:20153826
RGD:2325860
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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Mt2A
metallothionein 2A
ISO
Auricular Chondritis; mRNA:increased expression:ear (mouse)
RGD
PMID:17606507
RGD:6483833
NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784
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Nppc
natriuretic peptide C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17676597
NCBI chr 9:87,320,051...87,324,251
Ensembl chr 9:87,320,051...87,324,251
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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 term: Cutis laxa, autosomal recessive, type IC
OMIM ClinVar
PMID:19836010 PMID:22829427 PMID:24033266 PMID:25741868 PMID:25882708 PMID:28492532 PMID:31115174 PMID:35972031 More...
NCBI chr 1:82,600,136...82,634,346
Ensembl chr 1:82,600,136...82,632,178
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Ryr1
ryanodine receptor 1
ISO
ClinVar Annotator: match by term: Bronchomalacia
ClinVar
PMID:16835904 PMID:24033266 PMID:25741868
NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
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Erf
Ets2 repressor factor
ISO
ClinVar Annotator: match by term: Chitayat syndrome
OMIM ClinVar
PMID:8418638 PMID:23354439 PMID:25741868 PMID:27738187 PMID:28492532 PMID:30569521 More...
NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
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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) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Keutel syndrome
OMIM CTD ClinVar RGD
PMID:9916809 PMID:15810001 PMID:21705322 PMID:25741868 PMID:28492532 PMID:9916809 More...
RGD:1600783
NCBI chr 4:169,766,290...169,769,612
Ensembl chr 4:169,766,279...169,769,667
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Nfix
nuclear factor I X
ISO
ClinVar Annotator: match by term: Congenital laryngomalacia
ClinVar
PMID:25741868
NCBI chr19:23,355,388...23,450,360
Ensembl chr19:23,355,498...23,448,265
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Acan
aggrecan
ISO
ClinVar Annotator: match by term: Osteochondritis dissecans
ClinVar
PMID:16080123 PMID:20137779 PMID:24762113 PMID:25741868 PMID:28492532
NCBI chr 1:132,981,034...133,044,416
Ensembl chr 1:132,981,582...133,043,627
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Fbn1
fibrillin 1
ISO
ClinVar Annotator: match by term: Pectus carinatum
ClinVar
PMID:25741868
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Ifng
interferon gamma
ISO
protein:increased expression:ear
RGD
PMID:17606507
RGD:6483833
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Tnf
tumor necrosis factor
ISO
protein:increased expression:ear
RGD
PMID:17606507
RGD:6483833
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Acan
aggrecan
ISO
ClinVar Annotator: match by term: Short stature and advanced bone age | ClinVar Annotator: match by term: Short stature and advanced bone age, with early-onset osteoarthritis | ClinVar Annotator: match by term: Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
OMIM ClinVar
PMID:14216462 PMID:16080123 PMID:19110214 PMID:20137779 PMID:24762113 PMID:25741789 PMID:25741868 PMID:27710243 PMID:27870580 PMID:28331218 PMID:28492532 PMID:31841439 More...
NCBI chr 1:132,981,034...133,044,416
Ensembl chr 1:132,981,582...133,043,627
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Mitf
melanocyte inducing transcription factor
ISO
RGD
PMID:10851256
RGD:1599943
NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all