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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:Chromosome Breakage
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Accession:DOID:9004203 term browser browse the term
Definition:A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.
Synonyms:exact_synonym: Chromosomal Break;   Chromosomal Breakage;   Chromosomal Breakages;   Chromosomal Breaks;   Chromosome Break;   Chromosome Breakages;   Chromosome Breaks
 primary_id: MESH:D019457;   RDO:0002130


show annotations for term's descendants           Sort by:
Chromosome Breakage term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca1 BRCA1, DNA repair associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:15894690 NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304 		JBrowse link
G Cat catalase ISO CTD Direct Evidence: therapeutic CTD PMID:25172298 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Cd40lg CD40 ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:27634759 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Ddx11 DEAD/H-box helicase 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25561740 NCBI chr 9:105,833,234...105,862,844
Ensembl chr 9:105,833,504...105,862,550 		JBrowse link
G Dffb DNA fragmentation factor subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:31401084 NCBI chr 5:164,522,446...164,534,733
Ensembl chr 5:164,522,463...164,534,628 		JBrowse link
G Ehmt2 euchromatic histone lysine methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29391238 NCBI chr20:3,919,623...3,936,751
Ensembl chr20:3,919,624...3,941,547 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:29391238 NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27406225 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G H2ax H2A.X variant histone ISO CTD Direct Evidence: marker/mechanism CTD PMID:26231820 NCBI chr 8:44,671,907...44,673,262
Ensembl chr 8:44,671,786...44,673,239 		JBrowse link
G Il4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27634759 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25933419 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:27774770 NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737 		JBrowse link
G Nipbl NIPBL, cohesin loading factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:35435490 NCBI chr 2:57,399,443...57,586,770
Ensembl chr 2:57,399,445...57,565,899 		JBrowse link
G Suv39h1 SUV39H1 histone lysine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29391238 NCBI chr  X:14,421,028...14,433,993
Ensembl chr  X:14,421,109...14,433,982 		JBrowse link
G Suv39h1-ps1 SUV39H1 histone lysine methyltransferase, pseudogene 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29391238 NCBI chr  X:141,792,589...141,795,257 JBrowse link
Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Entrep2 endosomal transmembrane epsin interactor 2 ISO ClinVar Annotator: match by term: Lung disease, immunodeficiency, and chromosome breakage syndrome ClinVar PMID:20864041 PMID:25741868 PMID:27427983 PMID:28492532 NCBI chr 1:118,288,365...118,700,514
Ensembl chr 1:118,288,379...118,700,671 		JBrowse link
G Nsmce3 NSE3 homolog, SMC5-SMC6 complex component ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lung disease, immunodeficiency, and chromosome breakage syndrome		 OMIM
CTD
ClinVar		 PMID:20864041 PMID:25741868 PMID:27427983 PMID:28492532 NCBI chr 1:118,401,302...118,402,629 JBrowse link
Thrombocytopenia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acbd5 acyl-CoA binding domain containing 5 ISO ClinVar Annotator: match by term: Thrombocytopenia 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:85,206,178...85,248,909
Ensembl chr17:85,206,303...85,248,215 		JBrowse link
G Ankrd26 ankyrin repeat domain containing 26 ISO ClinVar Annotator: match by term: Thrombocytopenia 2
CTD Direct Evidence: marker/mechanism
DNA:mutations:5'utr:		 OMIM
ClinVar
CTD
RGD		 PMID:10521306 PMID:17666371 PMID:20626622 PMID:21211618 PMID:23677566 More... RGD:9681743 NCBI chr 4:151,670,604...151,740,032
Ensembl chr 4:151,672,037...151,739,968 		JBrowse link
G Mastl microtubule associated serine/threonine kinase-like ISO ClinVar Annotator: match by term: Thrombocytopenia 2 ClinVar PMID:10891439 PMID:12890928 PMID:19460416 PMID:22102272 PMID:25741868 More... NCBI chr17:85,250,512...85,287,479
Ensembl chr17:85,251,997...85,287,353 		JBrowse link
Warsaw breakage syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddx11 DEAD/H-box helicase 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Warsaw breakage syndrome		 OMIM
CTD
ClinVar		 PMID:20137776 PMID:20696886 PMID:23033317 PMID:25741868 PMID:26089203 More... NCBI chr 9:105,833,234...105,862,844
Ensembl chr 9:105,833,504...105,862,550 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21122
    Pathological Conditions, Signs and Symptoms 13262
      Pathologic Processes 7934
        Chromosome Aberrations 2499
          Chromosome Breakage 20
            Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities 0
            Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome 2
            Thrombocytopenia 2 3
            Warsaw breakage syndrome 1
paths to the root