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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:Genomic Instability
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Accession:DOID:9002981 term browser browse the term
Definition:An increased tendency of the GENOME to acquire MUTATIONS when various processes involved in maintaining and replicating the genome are dysfunctional.
Synonyms:exact_synonym: Genome Instabilities;   Genome Instability;   Genome Stabilities;   Genome Stability;   Genomic Instabilities;   Genomic Stabilities;   Genomic Stability
 primary_id: MESH:D042822


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Genomic Instability term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnd1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8548770 NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602 		JBrowse link
G Fbxw7 F-box and WD repeat domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17588203 NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941 		JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23217256 NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260 		JBrowse link
G Sprtn SprT-like N-terminal domain ISO CTD Direct Evidence: marker/mechanism CTD PMID:25261934 NCBI chr19:52,857,612...52,864,864
Ensembl chr19:52,857,866...52,864,864 		JBrowse link
G Sult1a1 sulfotransferase family 1A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28326452 NCBI chr 1:181,272,022...181,276,750
Ensembl chr 1:181,272,023...181,275,562 		JBrowse link
Chromosomal Instability term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aurka aurora kinase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24976383 NCBI chr 3:161,128,309...161,144,524
Ensembl chr 3:161,128,313...161,144,390 		JBrowse link
G Ckap5 cytoskeleton associated protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24976383 NCBI chr 3:77,491,195...77,593,300
Ensembl chr 3:77,491,276...77,593,264 		JBrowse link
G Kif11 kinesin family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17974955 NCBI chr 1:235,124,371...235,176,760
Ensembl chr 1:235,124,316...235,176,766 		JBrowse link
G Lxn latexin ISO CTD Direct Evidence: marker/mechanism CTD PMID:25341047 NCBI chr 2:151,727,556...151,733,426
Ensembl chr 2:151,727,102...151,733,460 		JBrowse link
G Ppp2r2a protein phosphatase 2, regulatory subunit B, alpha ISO CTD Direct Evidence: therapeutic CTD PMID:25772433 NCBI chr15:41,204,659...41,263,924
Ensembl chr15:41,204,200...41,263,924 		JBrowse link
G Ppp2r5c protein phosphatase 2, regulatory subunit B', gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:25772433 NCBI chr 6:129,461,689...129,598,344
Ensembl chr 6:129,461,648...129,598,346 		JBrowse link
G Ppp2r5e protein phosphatase 2 regulatory subunit B', epsilon ISO CTD Direct Evidence: therapeutic CTD PMID:25772433 NCBI chr 6:94,168,846...94,317,872
Ensembl chr 6:94,168,846...94,317,872 		JBrowse link
G Rps3 ribosomal protein S3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25341047 NCBI chr 1:153,778,363...153,783,663
Ensembl chr 1:153,777,472...153,783,680 		JBrowse link
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, endometrial cancer;DNA:mutations:multiple (human)
associated with colorectal cancer, stomach cancer;protein:decreased expression:cytoplasm (human)		 RGD PMID:32236609 PMID:25344691 PMID:26297255 RGD:151361217, RGD:151361224, RGD:11056888 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
Ruijs-Aalfs syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sprtn SprT-like N-terminal domain ISO ClinVar Annotator: match by term: Progeroid features-hepatocellular carcinoma predisposition syndrome | ClinVar Annotator: match by term: Ruijs-Aalfs syndrome OMIM
ClinVar		 PMID:12503110 PMID:25261934 PMID:25741868 NCBI chr19:52,857,612...52,864,864
Ensembl chr19:52,857,866...52,864,864 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    Pathological Conditions, Signs and Symptoms 13532
      Pathologic Processes 8240
        Genomic Instability 31
          Chromosomal Instability + 8
          Microsatellite Instability 18
          Ruijs-Aalfs syndrome 1
paths to the root