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 chrNW_004955420:10,671,888...10,674,080
Ensembl chrNW_004955420:10,671,978...10,672,934
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Tp53
tumor protein p53
ISO
RGD
PMID:19950227
RGD:8547762
NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
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Clu
clusterin
ISO
RGD
PMID:19903339
RGD:9014708
NCBI chrNW_004955403:50,160,598...50,175,876
Ensembl chrNW_004955403:50,160,598...50,175,876
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Abcb1
ATP binding cassette subfamily B member 1
severity
ISO
Nasal Type;protein:increased expression:nasal cavity (human)
RGD
PMID:18756548
RGD:8657087
NCBI chrNW_004955432:4,911,774...5,085,349
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Cd274
CD274 molecule
disease_progression
ISO
associated with Epstein-Barr Virus Infections
RGD
PMID:27595782
RGD:41412182
NCBI chrNW_004955434:9,487,309...9,508,366
Ensembl chrNW_004955434:9,487,315...9,505,904
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Cflar
CASP8 and FADD like apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15924153
NCBI chrNW_004955403:415,092...442,214
Ensembl chrNW_004955403:412,632...434,741
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Fas
Fas cell surface death receptor
ISO
DNA:insertion, deletions:cds:multiple (human)
RGD
PMID:12466128
RGD:8662407
NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455
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Gpx3
glutathione peroxidase 3
treatment
ISO
associated with ethmoid sinus cancer and Neoplasm Metastasis
RGD
PMID:29496492
RGD:151708712
NCBI chrNW_004955408:2,622,162...2,629,088
Ensembl chrNW_004955408:2,622,741...2,629,032
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Jak3
Janus kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22705984 PMID:23689514
NCBI chrNW_004955524:3,399,895...3,412,018
Ensembl chrNW_004955524:3,401,642...3,411,643
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Prdm1
PR/SET domain 1
disease_progression
ISO
RGD
PMID:24438193
RGD:150530467
NCBI chrNW_004955411:31,434,503...31,455,995
Ensembl chrNW_004955411:31,434,503...31,456,056
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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 chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687
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Stat5b
signal transducer and activator of transcription 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29200404
NCBI chrNW_004955451:16,253,645...16,295,337
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Maml3
mastermind like transcriptional coactivator 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24859338
NCBI chrNW_004955428:3,602,255...4,009,994
Ensembl chrNW_004955428:3,603,101...4,008,781
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Pax3
paired box 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24859338
NCBI chrNW_004955453:11,463,407...11,558,001
Ensembl chrNW_004955453:11,463,379...11,558,006
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Smarcb1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
ISO
RGD
PMID:30120966
RGD:127285653
NCBI chrNW_004955455:8,420,263...8,457,105
Ensembl chrNW_004955455:8,415,839...8,457,097
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all