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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Abl1
ABL proto-oncogene 1, non-receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features
ClinVar
PMID:10988075 PMID:11423618 PMID:11853795 PMID:11861307 PMID:11964322 PMID:12130516 PMID:12399961 PMID:12623848 PMID:14559829 PMID:14745431 PMID:15194504 PMID:15256422 PMID:15381060 PMID:18615627 PMID:19466505 PMID:19652056 PMID:20367437 PMID:20512393 PMID:20537386 PMID:20697894 PMID:20963643 PMID:21505103 PMID:21562040 PMID:21762985 PMID:21872826 PMID:21895409 PMID:22306673 PMID:22772060 PMID:22870928 PMID:23355941 PMID:23540562 PMID:23676790 PMID:24236021 PMID:24456693 PMID:25157968 PMID:25686603
NCBI chr 3:10,041,820...10,145,076
Ensembl chr 3:10,041,826...10,144,388
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Crlf2
cytokine receptor-like factor 2
ISO
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features
ClinVar
PMID:19907440 PMID:19965641 PMID:20018760 PMID:22368272
NCBI chr14:1,456,843...1,461,543
Ensembl chr14:1,456,844...1,461,543
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Cyp2b3
cytochrome P450, family 2, subfamily b, polypeptide 3
susceptibility
ISO
DNA:polymorphism:G15631T
RGD
PMID:19144407
RGD:6480472
NCBI chr 1:83,163,103...83,236,615
Ensembl chr 1:83,163,079...83,236,615
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Fgfr1
Fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: LYMPHOMATOUS ALL
ClinVar
PMID:25705862 PMID:26619011 PMID:26942290
NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
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Il7r
interleukin 7 receptor
ISO
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features
ClinVar
PMID:22897847 PMID:22955920
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Insl6
insulin-like 6
ISO
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features
ClinVar
PMID:18805579 PMID:19470474 PMID:20585391 PMID:22368270 PMID:22955920
NCBI chr 1:247,473,292...247,476,827
Ensembl chr 1:247,473,292...247,476,827
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Jak1
Janus kinase 1
ISO
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features
ClinVar
PMID:16239216 PMID:19139102 PMID:19470474 PMID:19838194 PMID:20167706 PMID:21436584 PMID:21680795 PMID:22955920 PMID:25356970 PMID:28111307
NCBI chr 5:119,982,503...120,091,452
Ensembl chr 5:119,982,943...120,083,904
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Jak2
Janus kinase 2
ISO
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features
ClinVar
PMID:18805579 PMID:19470474 PMID:20585391 PMID:22368270 PMID:22955920
NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
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Jak3
Janus kinase 3
ISO
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features
ClinVar
PMID:10982185 PMID:16843266 PMID:18270328 PMID:20132407 PMID:20372971 PMID:21599579 PMID:21821710 PMID:24728327 PMID:25157968 PMID:28492532
NCBI chr16:20,107,471...20,120,678
Ensembl chr16:20,109,200...20,120,668
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all