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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.
Term:Microsatellite Instability
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Accession:DOID:9000027 term browser browse the term
Definition:The occurrence of highly polymorphic mono- and dinucleotide MICROSATELLITE REPEATS in somatic cells. It is a form of genome instability associated with defects in DNA MISMATCH REPAIR.
Synonyms:exact_synonym: Replication Error Phenotype;   Replication Error Phenotypes
 primary_id: MESH:D053842;   RDO:0007641


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Microsatellite Instability term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvr2a activin A receptor type 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25701956 NCBI chr 3:33,204,961...33,292,673
Ensembl chr 3:33,205,523...33,289,968 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25701956 NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:25701956 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25701956 NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G Hdac2 histone deacetylase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25701956 NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609 		JBrowse link
G Mir155 microRNA 155 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25701956 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718 		JBrowse link
G Mir21 microRNA 21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25701956 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348 		JBrowse link
G Msh3 mutS homolog 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25701956 NCBI chr 2:23,444,326...23,585,777 JBrowse link
G Msh6 mutS homolog 6 ISO
IMP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:25701956 PMID:18417481 RGD:2292505 NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956 		JBrowse link
G Msh6m1Hubr mutS homolog 6; ENU induced mutant 1, Hubr IMP RGD PMID:18417481 RGD:2292505
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17350979 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Rnf43 ring finger protein 43 ISO associated with ascending colon cancer;DNA:nonsense mutation, frameshift mutations:CDS:multiple (human)
associated with colorectal cancer, stomach cancer;protein:decreased expression:cytoplasm (human)
associated with colorectal cancer, endometrial cancer;DNA:mutations:multiple (human)		 RGD PMID:32236609 PMID:26297255 PMID:25344691 RGD:151361217, RGD:11056888, RGD:151361224 NCBI chr10:72,461,508...72,537,301
Ensembl chr10:72,464,348...72,536,977 		JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25701956 NCBI chr 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489 		JBrowse link
G Smc2 structural maintenance of chromosomes 2 ISO assoc. w/gastric cancer;DNA:frameshift mutations:exon 6, exon 17:K188fsX5, T751fsX9 (human) RGD PMID:24483990 RGD:151356954 NCBI chr 5:66,806,882...66,853,478
Ensembl chr 5:66,807,011...66,853,242 		JBrowse link
G Tarbp2 Tarbp2 subunit of RISC loading complex ISO CTD Direct Evidence: marker/mechanism CTD PMID:25701956 NCBI chr 7:133,649,118...133,654,306
Ensembl chr 7:133,649,090...133,654,314 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7761852 PMID:25701956 NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228 		JBrowse link
G Xpo5 exportin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25701956 NCBI chr 9:14,740,182...14,778,171
Ensembl chr 9:14,740,182...14,778,171 		JBrowse link
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  disease 19051
    Pathological Conditions, Signs and Symptoms 13531
      Pathologic Processes 8236
        Genomic Instability 31
          Microsatellite Instability 18
paths to the root