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
ISO
associated with Myasthenia Gravis
RGD
PMID:20728226
RGD:5148025
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
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Bap1
BRCA1 associated deubiquitinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24974848
NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
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Birc2
baculoviral IAP repeat-containing 2
ameliorates
ISO
mRNA:increased expression:thymus (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732
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Birc5
baculoviral IAP repeat-containing 5
ameliorates
ISO
mRNA:increased expression:thymus (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
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Bsg
basigin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36574092
NCBI chr 7:9,993,170...10,000,387
Ensembl chr 7:9,993,170...10,000,387
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24974848
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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Cyld
CYLD lysine 63 deubiquitinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24974848
NCBI chr19:18,310,632...18,373,696
Ensembl chr19:18,314,019...18,373,658
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Dnmt3b
DNA methyltransferase 3 beta
susceptibility
ISO
associated with Myasthenia Gravis;DNA:SNP:promoter: -579G>T(human)
RGD
PMID:24260492
RGD:9589098
NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124
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Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Thymoma
ClinVar
PMID:20859122 PMID:24224811 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27283355 PMID:31775759 PMID:32732226 PMID:34958143 More...
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Thymoma
ClinVar
PMID:7530509 PMID:9438854 PMID:10224103 PMID:10680913 PMID:11276010 PMID:11505412 PMID:12960119 PMID:14977822 PMID:15790786 PMID:16226710 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:27981619 PMID:28492532 PMID:28710566 More...
NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Thymoma
ClinVar
PMID:20859122 PMID:24224811 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27283355 PMID:31775759 PMID:32732226 PMID:34958143 More...
NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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Naip6
NLR family, apoptosis inhibitory protein 6
ameliorates
ISO
mRNA:increased expression:thymus (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 2:31,507,423...31,559,098
Ensembl chr 2:31,507,424...31,570,542
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Pbrm1
polybromo 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24974848
NCBI chr16:6,213,507...6,312,895
Ensembl chr16:6,213,300...6,311,780
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24974848
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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