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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Brca1
BRCA1, DNA repair associated
ISO
ClinVar Annotator: match by term: Peritoneum cancer
ClinVar
PMID:20104584 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29446198 PMID:31853058 More...
NCBI chr10:86,917,693...86,978,012
Ensembl chr10:86,418,000...86,477,304
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Cebpb
CCAAT/enhancer binding protein beta
severity
ISO
associated with stomach cancer
RGD
PMID:26514342
RGD:11556383
NCBI chr 3:176,817,005...176,818,436
Ensembl chr 3:156,397,052...156,399,473
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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 chr10:55,831,901...55,856,729
Ensembl chr10:55,352,899...55,356,774
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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 chr 3:90,469,192...90,472,759
Ensembl chr 3:70,062,535...70,066,101
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Mlh1
mutL homolog 1
ISO
ClinVar Annotator: match by term: Primary peritoneal carcinoma
ClinVar
PMID:25741868
NCBI chr 8:120,074,871...120,112,109
Ensembl chr 8:111,196,468...111,233,617
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Lats1
large tumor suppressor kinase 1
ISO
ClinVar Annotator: match by term: Malignant peritoneal mesothelioma
ClinVar
NCBI chr 1:3,980,801...4,014,029
Ensembl chr 1:2,160,411...2,193,640
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Lats2
large tumor suppressor kinase 2
ISO
ClinVar Annotator: match by term: Malignant peritoneal mesothelioma
ClinVar
NCBI chr15:35,940,632...35,992,225
Ensembl chr15:31,825,092...31,877,220
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Mecom
MDS1 and EVI1 complex locus
ISO
ClinVar Annotator: match by term: Malignant peritoneal mesothelioma
ClinVar
NCBI chr 2:114,837,815...115,393,052
Ensembl chr 2:112,909,321...113,464,590
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Traf7
TNF receptor associated factor 7
ISO
DNA:missense mutations:multiple
RGD
PMID:30171198
RGD:151356964
NCBI chr10:13,533,570...13,552,290
Ensembl chr10:13,533,570...13,552,203
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all