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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Sox2
SRY-box transcription factor 2
ISO
DNA:amplification
RGD
PMID:23544055
RGD:8661654
NCBI chr 2:119,465,131...119,467,542
Ensembl chr 2:119,454,541...119,496,350
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Tp53
tumor protein p53
ISO
RGD
PMID:19950227
RGD:8547762
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299
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Clu
clusterin
ISO
RGD
PMID:19903339
RGD:9014708
NCBI chr15:44,336,619...44,375,861
Ensembl chr15:44,359,914...44,375,860
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Abcb1a
ATP binding cassette subfamily B member 1A
severity
ISO
Nasal Type;protein:increased expression:nasal cavity (human)
RGD
PMID:18756548
RGD:8657087
NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:26,312,409...26,397,135
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Cd274
CD274 molecule
disease_progression
ISO
associated with Epstein-Barr Virus Infections
RGD
PMID:27595782
RGD:41412182
NCBI chr 1:236,526,215...236,549,956
Ensembl chr 1:236,496,463...236,549,951
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Cflar
CASP8 and FADD-like apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15924153
NCBI chr 9:67,679,502...67,747,226
Ensembl chr 9:67,679,559...67,726,434
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Fas
Fas cell surface death receptor
ISO
DNA:insertion, deletions:cds:multiple (human)
RGD
PMID:12466128
RGD:8662407
NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:241,205,935...241,246,104
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Gpx3
glutathione peroxidase 3
treatment
ISO
associated with ethmoid sinus cancer and Neoplasm Metastasis
RGD
PMID:29496492
RGD:151708712
NCBI chr10:39,529,335...39,537,406
Ensembl chr10:39,529,448...39,537,405
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Jak3
Janus kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22705984 PMID:23689514
NCBI chr16:18,418,807...18,432,515
Ensembl chr16:18,420,415...18,433,222
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Prdm1
PR/SET domain 1
disease_progression
ISO
RGD
PMID:24438193
RGD:150530467
NCBI chr20:49,542,465...49,564,088
Ensembl chr20:49,542,465...49,564,088
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Stat3
signal transducer and activator of transcription 3
ISO
protein:increased expression:nasal cavity (human)
RGD
PMID:17225522
RGD:153298933
NCBI chr10:86,311,528...86,363,513
Ensembl chr10:86,311,535...86,363,359
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Stat5b
signal transducer and activator of transcription 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29200404
NCBI chr10:86,205,148...86,276,178
Ensembl chr10:86,207,293...86,275,990
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Maml3
mastermind-like transcriptional coactivator 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24859338
NCBI chr 2:137,871,267...138,288,615
Ensembl chr 2:137,871,267...138,287,960
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Pax3
paired box 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24859338
NCBI chr 9:87,015,960...87,112,531
Ensembl chr 9:87,016,999...87,124,141
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Smarcb1
SWI/SNF related BAF chromatin remodeling complex subunit B1
ISO
RGD
PMID:30120966
RGD:127285653
NCBI chr20:12,740,105...12,763,054
Ensembl chr20:12,740,943...12,763,055
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