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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;   RDO:0007504
For additional species annotation, visit the Alliance of Genome Resources.


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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 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
JBrowse link
G Fbxw7 F-box and WD repeat domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17588203 NCBI chr 2:184,230,191...184,309,805
Ensembl chr 2:184,231,260...184,309,664
JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23217256 NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
JBrowse link
G Sprtn SprT-like N-terminal domain ISO CTD Direct Evidence: marker/mechanism CTD PMID:25261934 NCBI chr19:57,649,901...57,657,158
Ensembl chr19:57,650,163...57,654,864
JBrowse link
G Sult1a1 sulfotransferase family 1A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28326452 NCBI chr 1:198,100,586...198,104,106
Ensembl chr 1:198,100,586...198,104,109
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 3:170,364,177...170,380,278
Ensembl chr 3:170,364,181...170,378,210
JBrowse link
G Ckap5 cytoskeleton associated protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24976383 NCBI chr 3:80,424,320...80,526,583
Ensembl chr 3:80,468,154...80,526,593
JBrowse link
G Kif11 kinesin family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17974955 NCBI chr 1:256,035,866...256,088,299
Ensembl chr 1:256,035,866...256,088,299
JBrowse link
G Lxn latexin ISO CTD Direct Evidence: marker/mechanism CTD PMID:25341047 NCBI chr 2:164,628,565...164,634,434
Ensembl chr 2:164,628,566...164,634,434
JBrowse link
G Ppp2r2a protein phosphatase 2, regulatory subunit B, alpha ISO CTD Direct Evidence: therapeutic CTD PMID:25772433 NCBI chr15:43,673,958...43,733,182
Ensembl chr15:43,673,960...43,733,182
JBrowse link
G Ppp2r5c protein phosphatase 2, regulatory subunit B', gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:25772433 NCBI chr 6:134,804,128...134,941,912
Ensembl chr 6:134,804,141...134,939,358
JBrowse link
G Ppp2r5e protein phosphatase 2 regulatory subunit B', epsilon ISO CTD Direct Evidence: therapeutic CTD PMID:25772433 NCBI chr 6:98,417,974...98,567,016
Ensembl chr 6:98,417,974...98,566,966
JBrowse link
G Rps3 ribosomal protein S3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25341047 NCBI chr 1:164,435,868...164,441,167
Ensembl chr 1:164,435,878...164,441,167
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 3:32,947,901...33,034,598
Ensembl chr 3:32,947,378...33,034,282
JBrowse link
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25701956 NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:25701956 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25701956 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Hdac2 histone deacetylase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25701956 NCBI chr20:43,084,870...43,108,198
Ensembl chr20:43,084,870...43,108,198
JBrowse link
G Mir155 microRNA 155 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25701956 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Mir21 microRNA 21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25701956 NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301
JBrowse link
G Msh3 mutS homolog 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25701956 NCBI chr 2:21,790,048...21,931,791
Ensembl chr 2:21,790,044...21,931,720
JBrowse link
G Msh6 mutS homolog 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25701956 NCBI chr 6:11,644,565...11,662,389
Ensembl chr 6:11,644,578...11,662,499
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17350979 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25701956 NCBI chr 8:118,802,478...118,888,224
Ensembl chr 8:118,803,075...118,888,224
JBrowse link
G Tarbp2 TARBP2 subunit of RISC loading complex ISO CTD Direct Evidence: marker/mechanism CTD PMID:25701956 NCBI chr 7:144,121,688...144,126,860
Ensembl chr 7:144,121,744...144,126,857
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7761852, PMID:25701956 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
JBrowse link
G Xpo5 exportin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25701956 NCBI chr 9:17,125,201...17,163,170
Ensembl chr 9:17,125,201...17,163,170
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: RUIJS-AALFS SYNDROME
ClinVar Annotator: match by OMIM:616200
ClinVar
OMIM
PMID:12503110, PMID:25261934 NCBI chr19:57,649,901...57,657,158
Ensembl chr19:57,650,163...57,654,864
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Pathological Conditions, Signs and Symptoms 8726
      Pathologic Processes 6130
        Genomic Instability 27
          Chromosomal Instability + 8
          Microsatellite Instability 14
          Ruijs-Aalfs syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.