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.
G
Asxl1
ASXL transcriptional regulator 1
disease_progression
ISO
DNA:mutations:exon:
RGD
PMID:20880116
RGD:11038767
NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538
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Cdkn2b
cyclin-dependent kinase inhibitor 2B
ISO
DNA:altered methylation:5'UTR:
RGD
PMID:12750705
RGD:11252180
NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
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Csf3r
colony stimulating factor 3 receptor
disease_progression
ISO
DNA:mutations:multiples:
RGD
PMID:23774674
RGD:10450469
NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
severity
ISO
DNA:mutations:multiple (human)
RGD
PMID:21339759
RGD:10450882
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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Kdm6a
lysine demethylase 6A
ISS
MouseDO
NCBI chr X:4,337,466...4,477,100
Ensembl chr X:4,337,750...4,477,062
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Nras
NRAS proto-oncogene, GTPase
onset
ISO
RGD
PMID:26082490
RGD:11535058
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Tet2
tet methylcytosine dioxygenase 2
ISO
DNA:missense mutations, nonsense mutations, splice-site mutations:multiple
RGD
PMID:20693430
RGD:11038679
NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
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Csf3r
colony stimulating factor 3 receptor
ISO
DNA:mutation:exon:p.T618I(human)
RGD
PMID:24081659 PMID:23604229
RGD:10450482 , RGD:10450483
NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881
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Pdgfrb
platelet derived growth factor receptor beta
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: EOSINOPHILS, MALIGNANT PROLIFERATION OF | ClinVar Annotator: match by term: Myeloproliferative disorder, chronic, with eosinophilia
CTD ClinVar
PMID:25454926 PMID:25741868 PMID:26455322 PMID:28492532 PMID:29226947 PMID:30573803 More...
NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843
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Fip1l1
factor interacting with PAPOLA and CPSF1
ISO
DNA:gene fusion
RGD
PMID:22806436
RGD:11075089
NCBI chr14:33,615,210...33,675,742
Ensembl chr14:33,617,720...33,675,708
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Pdgfra
platelet derived growth factor receptor alpha
ISO
DNA:gene fusion
RGD
PMID:22806436
RGD:11075089
NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all