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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:Cytomegalovirus Infections
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Accession:DOID:9006262 term browser browse the term
Definition:Infection with CYTOMEGALOVIRUS, characterized by enlarged cells bearing intranuclear inclusions. Infection may be in almost any organ, but the salivary glands are the most common site in children, as are the lungs in adults.
Synonyms:exact_synonym: Cytomegalic Inclusion Disease;   Cytomegalic Inclusion Diseases;   Cytomegalovirus Infection;   Inclusion Disease;   Inclusion Diseases;   Salivary Gland Virus Disease
 primary_id: MESH:D003586
 xref: EFO:0001062


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Cytomegalovirus Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme ISO associated with essential hypertension:DNA:hypomethylation RGD PMID:29752343 RGD:40400905 NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358 		JBrowse link
G CCL16 C-C motif chemokine ligand 16 ISO protein:increased expression:plasma (human) RGD PMID:23593305 RGD:38508895 NCBI chr 9:37,787,658...37,791,132
Ensembl chr 9:37,787,680...37,791,037 		JBrowse link
G CCL21 C-C motif chemokine ligand 21 ISO protein:increased expression:plasma (human) RGD PMID:23593305 RGD:38508895 NCBI chr11:51,375,107...51,375,790 JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO protein:increased secretion:lung, secretion (human) RGD PMID:18513272 RGD:4891916 NCBI chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852 		JBrowse link
G CD1D CD1d molecule exacerbates ISO RGD PMID:17379092 RGD:127345104 NCBI chr38:23,489,169...23,491,712 JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO protein:increased expression:plasma (human) RGD PMID:23593305 RGD:38508895 NCBI chr32:598,406...599,925
Ensembl chr32:597,987...599,979 		JBrowse link
G IL17D interleukin 17D severity ISO RGD PMID:30209334 RGD:40903063 NCBI chr25:17,386,815...17,390,315 JBrowse link
G IL1RL1 interleukin 1 receptor like 1 ISO RGD PMID:25926677 RGD:40400705 NCBI chr10:40,658,191...40,732,097
Ensembl chr10:40,659,041...40,677,357 		JBrowse link
G IL27 interleukin 27 ISO protein:increased expression:spleen, saliva-secreting gland (mouse) RGD PMID:27926930 RGD:126790498 NCBI chr 6:18,243,988...18,248,369
Ensembl chr 6:18,244,040...18,247,635 		JBrowse link
G IL5 interleukin 5 ISO RGD PMID:22293286 RGD:5687156 NCBI chr11:20,825,469...20,827,269
Ensembl chr11:20,825,469...20,827,269 		JBrowse link
G KLRK1 killer cell lectin like receptor K1 severity ISO DNA:SNP:cds: c.214A>G (rs2255336) (human) RGD PMID:19631564 PMID:25861030 PMID:28760883 RGD:38676488 RGD:39018560 RGD:39018561 NCBI chr27:35,634,938...35,658,978
Ensembl chr27:35,639,280...35,658,882 		JBrowse link
G LOC480600 chemokine (C-C motif) ligand 3 ISO associated with renal allograft recipients RGD PMID:10353879 RGD:7241836 NCBI chr 9:37,708,561...37,710,209
Ensembl chr 9:37,676,966...37,710,209 		JBrowse link
G MBL1 mannose binding lectin 1 severity ISO DNA:SNP:exon
DNA:polymorphism: :		 RGD PMID:19715891 PMID:20712489 RGD:4889482 RGD:6903267 NCBI chr 4:29,419,886...29,424,377 JBrowse link
G MTHFR methylenetetrahydrofolate reductase ameliorates ISO RGD PMID:19609317 RGD:42722609 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818 		JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 disease_progression
susceptibility		 ISO DNA:SNP:cds: p.C14R (mouse) RGD PMID:22267813 PMID:26371250 PMID:28643847 PMID:29440507 RGD:40818245 RGD:40818246 RGD:40818249 RGD:40818251 NCBI chr 1:102,686,058...102,690,350
Ensembl chr 1:102,686,058...102,690,620 		JBrowse link
G NFKBIA NFKB inhibitor alpha susceptibility ISO associated with end stage renal disease;DNA:SNP:promoter: -94ins/delATTG (human) RGD PMID:30431214 RGD:40902821 NCBI chr 8:14,100,203...14,103,453
Ensembl chr 8:14,100,671...14,103,433 		JBrowse link
G PDCD1 programmed cell death 1 susceptibility ISO associated with kidney transplantation; DNA:SNP: :rs11568821(human) RGD PMID:19581275 RGD:40818426 NCBI chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723 		JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 severity ISO RGD PMID:29847649 RGD:127229927 NCBI chr 8:4,304,167...4,309,514
Ensembl chr 8:4,305,250...4,309,325 		JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 exacerbates ISO RGD PMID:31548683 RGD:149735526 NCBI chr24:25,623,997...25,676,336
Ensembl chr24:25,626,134...25,680,902 		JBrowse link
G SELP selectin P ISO RGD PMID:21457388 RGD:6219000 NCBI chr 7:28,956,428...28,997,266
Ensembl chr 7:28,958,486...28,996,313 		JBrowse link
G STAT1 signal transducer and activator of transcription 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16688530 NCBI chr37:1,513,438...1,549,837
Ensembl chr37:1,507,219...1,550,178 		JBrowse link
G STAT2 signal transducer and activator of transcription 2 exacerbates ISO RGD PMID:29743368 RGD:41789628 NCBI chr10:641,543...660,882
Ensembl chr10:642,718...658,546 		JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 ISO RGD PMID:31249303 RGD:39128225 NCBI chr 2:34,783,947...34,792,204
Ensembl chr 2:34,784,232...34,789,072 		JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:7815559 RGD:12904072 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		JBrowse link
G VCP valosin containing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28494016 NCBI chr11:51,636,986...51,651,749
Ensembl chr11:51,637,411...51,651,714 		JBrowse link
G VWF von Willebrand factor ISO protein:increased expression:plasma (human) RGD PMID:23593305 RGD:38508895 NCBI chr27:38,834,812...38,972,614
Ensembl chr27:38,833,837...39,320,142 		JBrowse link
G WAS WASP actin nucleation promoting factor severity ISO RGD PMID:30981413 RGD:38676256 NCBI chr  X:41,882,240...41,890,053
Ensembl chr  X:41,882,875...41,890,058 		JBrowse link
Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAG1 recombination activating 1 ISO ClinVar Annotator: match by term: Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity OMIM
ClinVar		 PMID:2682973 PMID:2808362 PMID:8810255 PMID:9630231 PMID:10606976 More... NCBI chr18:31,628,231...31,639,980
Ensembl chr18:31,630,737...31,641,660 		JBrowse link
cytomegalovirus retinitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLA88 MHC class I DLA-88 ISO associated with HIV Infections; DNA:polymorphisms, haplotype:cds:HLA-B44 (human) RGD PMID:11564593 RGD:7365106 NCBI chr12:892,442...895,691
Ensembl chr12:892,388...1,021,690 		JBrowse link
G IL10 interleukin 10 ISO associated with Murine Acquired Immunodeficiency Syndrome RGD PMID:23415673 RGD:7364815 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057 		JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 ISO protein:increased expression:optic cup, retina (mouse) RGD PMID:29853772 RGD:127229940 NCBI chr 8:4,304,167...4,309,514
Ensembl chr 8:4,305,250...4,309,325 		JBrowse link
G TNF tumor necrosis factor ISO mRNA,protein:increased expression:eye: RGD PMID:17389501 PMID:22072377 RGD:7394768 RGD:7394808 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO RGD PMID:17389501 RGD:7394808 NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282 		JBrowse link
human cytomegalovirus infection term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL32 interleukin 32 exacerbates ISO protein:increased expression:blood serum (human) RGD PMID:23402302 RGD:150340723 NCBI chr 6:38,119,287...38,122,979 JBrowse link
G REN renin ISO protein:decreased expression:blood plasma (human) RGD PMID:29752343 RGD:40400905 NCBI chr38:744,540...766,998
Ensembl chr38:744,614...755,012 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15754
    disease by infectious agent 2165
      viral infectious disease 1660
        DNA Virus Infections 321
          Herpesviridae Infections 203
            Cytomegalovirus Infections 33
              Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 1
              Cytomegalic Inclusion Body Disease 0
              cytomegalovirus retinitis 5
              human cytomegalovirus infection 2
paths to the root