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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Gp1ba
glycoprotein Ib platelet subunit alpha
sexual_dimorphism
ISO
associated with stomach cancer;protein:altered expression:peritoneum (human)
RGD
PMID:32724431
RGD:42722625
NCBI chrNW_004936677:2,774,076...2,779,660
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Prg2
proteoglycan 2, pro eosinophil major basic protein
severity
ISO
associated with colorectal cancer;protein:decreased expression:colorectum, eosinophil (human)
RGD
PMID:28439450
RGD:40902993
NCBI chrNW_004936581:5,101,041...5,103,175
Ensembl chrNW_004936581:5,100,623...5,102,857
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Mlh1
mutL homolog 1
ISO
ClinVar Annotator: match by term: Primary peritoneal carcinoma
ClinVar
PMID:25741868
NCBI chrNW_004936473:26,556,636...26,600,830
Ensembl chrNW_004936473:26,556,611...26,603,736
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Lats1
large tumor suppressor kinase 1
ISO
ClinVar Annotator: match by term: Malignant peritoneal mesothelioma
ClinVar
NCBI chrNW_004936489:2,607,114...2,649,879
Ensembl chrNW_004936489:2,605,195...2,649,879
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Lats2
large tumor suppressor kinase 2
ISO
ClinVar Annotator: match by term: Malignant peritoneal mesothelioma
ClinVar
NCBI chrNW_004936720:735,326...795,596
Ensembl chrNW_004936720:735,524...793,696
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Mecom
MDS1 and EVI1 complex locus
ISO
ClinVar Annotator: match by term: Malignant peritoneal mesothelioma
ClinVar
NCBI chrNW_004936593:2,742,236...3,282,596
Ensembl chrNW_004936593:3,106,202...3,282,596
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Traf7
TNF receptor associated factor 7
ISO
DNA:missense mutations:multiple
RGD
PMID:30171198
RGD:151356964
NCBI chrNW_004936694:1,868,309...1,886,772
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all