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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AQP4
aquaporin 4
IEP
associated with Myasthenia Gravis
RGD
PMID:20728226
RGD:5148025
NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771
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BAP1
BRCA1 associated protein 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24974848
NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
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CDKN2A
cyclin dependent kinase inhibitor 2A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24974848
NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
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CYLD
CYLD lysine 63 deubiquitinase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24974848
NCBI chr16:50,742,086...50,801,935
Ensembl chr16:50,742,050...50,801,935
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DNMT3B
DNA methyltransferase 3 beta
susceptibility
IAGP
associated with Myasthenia Gravis;DNA:SNP:promoter: -579G>T(human)
RGD
PMID:24260492
RGD:9589098
NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359
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HRAS
HRas proto-oncogene, GTPase
IAGP
ClinVar Annotator: match by term: Thymoma
ClinVar
PMID:20859122 PMID:24224811 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27283355 PMID:31775759 More...
NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
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KIT
KIT proto-oncogene, receptor tyrosine kinase
IAGP
ClinVar Annotator: match by term: Thymoma
ClinVar
PMID:7530509 PMID:9438854 PMID:11276010 PMID:11505412 PMID:12960119 PMID:15790786 PMID:16731599 PMID:16908931 PMID:17372901 PMID:17699867 PMID:18421059 PMID:18448188 PMID:18510589 PMID:18936790 PMID:18980976 PMID:19461405 PMID:19671763 PMID:19812602 PMID:19861435 PMID:19996579 PMID:20736294 PMID:20970876 PMID:21159146 PMID:21325067 PMID:21642685 PMID:21690468 PMID:21969494 PMID:22261812 PMID:22357254 PMID:23375402 PMID:23598963 PMID:24755198 PMID:25157968 PMID:27771813 PMID:28492532 More...
NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
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LRRC56
leucine rich repeat containing 56
IAGP
ClinVar Annotator: match by term: Thymoma
ClinVar
PMID:20859122 PMID:24224811 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27283355 PMID:31775759 More...
NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912
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PBRM1
polybromo 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24974848
NCBI chr 3:52,545,367...52,685,913
Ensembl chr 3:52,545,352...52,685,917
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TP53
tumor protein p53
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24974848
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all