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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Cdc42
cell division cycle 42
ISO
RGD
PMID:17971488
RGD:5688275
NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111
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Ddr2
discoidin domain receptor tyrosine kinase 2
ameliorates
ISO
DNA:deletion:exons:
RGD
PMID:24293323
RGD:150429711
NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
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Egr1
early growth response 1
ISO
human tumor line expressing mouse gene in mouse model
RGD
PMID:7585551
RGD:5131944
NCBI chr18:26,463,333...26,465,531
Ensembl chr18:26,462,981...26,466,766
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Ercc6
ERCC excision repair 6, chromatin remodeling factor
susceptibility
ISO
RGD
PMID:11238917
RGD:11567233
NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
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Nf1
neurofibromin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20601955
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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Serpine1
serpin family E member 1
severity
ISO
RGD
PMID:11059781
RGD:8547752
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Tert
telomerase reverse transcriptase
treatment
ISO
RGD
PMID:19903903
RGD:11038656
NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
human gene in mouse model
RGD
PMID:10753499
RGD:5131435
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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Col1a1
collagen type I alpha 1 chain
ISO
DNA:gene fusion:exon associated with Severe combined immunodeficiency due to adenosine deaminase deficiency;DNA:gene fusion
RGD
PMID:12641779 PMID:22153773
RGD:2292195 , RGD:5688300
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Pdgfb
platelet derived growth factor subunit B
ISO
DNA:gene fusion:exon ClinVar Annotator: match by term: Dermatofibrosarcoma protuberans
ClinVar OMIM RGD
PMID:28492532 PMID:12641779
RGD:2292195
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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Kdr
kinase insert domain receptor
ISO
RGD
PMID:10554031
RGD:8552377
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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Mxi1
MAX interactor 1, dimerization protein
ISO
ClinVar Annotator: match by term: Neurofibrosarcoma
ClinVar RGD
PMID:10470286 PMID:10470286
RGD:1600205
NCBI chr 1:252,323,915...252,383,682
Ensembl chr 1:252,323,303...252,383,681
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Nras
NRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16239399
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:peripheral nerve
RGD
PMID:10554031
RGD:8552377
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all