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
Accession: DOID:9004203
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
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Brca1
BRCA1, DNA repair associated
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15894690
NCBI chr10:86,917,693...86,978,012
Ensembl chr10:86,418,000...86,477,304
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Cat
catalase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:25172298
NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478
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Cd40lg
CD40 ligand
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27634759
NCBI chr X:140,164,341...140,176,057
Ensembl chr X:135,126,969...135,138,306
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Ddx11
DEAD/H-box helicase 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25561740
NCBI chr 9:113,204,886...113,309,692
Ensembl chr 9:105,833,504...105,862,550
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Dffb
DNA fragmentation factor subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31401084
NCBI chr 5:169,804,873...169,817,157
Ensembl chr 5:164,522,463...164,534,628
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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
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29391238
NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362
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Gstm1
glutathione S-transferase mu 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27406225
NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411
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H2ax
H2A.X variant histone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26231820
NCBI chr 8:53,568,718...53,570,072
Ensembl chr 8:44,671,786...44,673,239 Ensembl chr 4:44,671,786...44,673,239
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Il4
interleukin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27634759
NCBI chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25933419
NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630
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Nfe2l2
NFE2 like bZIP transcription factor 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:27774770
NCBI chr 3:81,001,529...81,031,165
Ensembl chr 3:60,594,242...60,621,737
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Nipbl
NIPBL, cohesin loading factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35435490
NCBI chr 2:59,126,676...59,314,841
Ensembl chr 2:57,399,445...57,565,899
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Suv39h1
SUV39H1 histone lysine methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29391238
NCBI chr X:17,093,059...17,105,942
Ensembl chr X:14,421,109...14,433,982
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Suv39h1-ps1
SUV39H1 histone lysine methyltransferase, pseudogene 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29391238
NCBI chr X:146,828,818...146,831,485
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Entrep2
endosomal transmembrane epsin interactor 2
ISO
ClinVar Annotator: match by term: Lung disease, immunodeficiency, and chromosome breakage syndrome | ClinVar Annotator: match by term: NSMCE3-related condition
ClinVar
PMID:20864041 PMID:25741868 PMID:27427983 PMID:28492532 PMID:33741030
NCBI chr 1:118,288,365...118,700,514
Ensembl chr 1:118,288,379...118,700,671
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Nsmce3
NSE3 homolog, SMC5-SMC6 complex component
ISO
ClinVar Annotator: match by term: Lung disease, immunodeficiency, and chromosome breakage syndrome | ClinVar Annotator: match by term: NSMCE3-related condition
OMIM ClinVar
PMID:20864041 PMID:25741868 PMID:27427983 PMID:28492532 PMID:33741030
NCBI chr 1:118,401,302...118,402,629
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Acbd5
acyl-CoA binding domain containing 5
ISO
ClinVar Annotator: match by term: Thrombocytopenia 2
ClinVar
PMID:25741868 PMID:28492532
NCBI chr17:90,114,250...90,156,286
Ensembl chr17:85,206,303...85,248,215
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Ankrd26
ankyrin repeat domain containing 26
ISO
ClinVar Annotator: match by term: ANKRD26-related condition | ClinVar Annotator: match by term: Thrombocytopenia 2 DNA:mutations:5'utr:
OMIM ClinVar RGD
PMID:10521306 PMID:17666371 PMID:20626622 PMID:21211618 PMID:21467542 PMID:22672365 PMID:23677566 PMID:24030261 PMID:24430186 PMID:24628296 PMID:25539746 PMID:25741868 PMID:25902755 PMID:26001113 PMID:26175287 PMID:26884589 PMID:27108925 PMID:27123948 PMID:28100250 PMID:28104920 PMID:28277066 PMID:28492532 PMID:28669401 PMID:28698781 PMID:28976612 PMID:28983057 PMID:29185836 PMID:29545013 PMID:30747248 PMID:31064749 PMID:31281687 PMID:32581362 PMID:32618208 PMID:32659145 PMID:33510405 PMID:33726816 PMID:34355501 PMID:35295078 PMID:35537115 PMID:35587581 PMID:35796010 PMID:35970915 PMID:36651276 PMID:37852929 PMID:21467542 More...
RGD:9681743
NCBI chr 4:153,342,901...153,412,321
Ensembl chr 4:151,672,037...151,739,968
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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 PMID:28492532 More...
NCBI chr17:90,158,592...90,195,550
Ensembl chr17:85,251,997...85,287,353
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Ddx11
DEAD/H-box helicase 11
ISO
ClinVar Annotator: match by term: Warsaw breakage syndrome
OMIM ClinVar
PMID:20137776 PMID:20696886 PMID:23033317 PMID:25741868 PMID:26089203 PMID:28492532 PMID:30216658 PMID:31169992 PMID:31287223 PMID:32855419 PMID:34906519 More...
NCBI chr 9:113,204,886...113,309,692
Ensembl chr 9:105,833,504...105,862,550
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all