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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 chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO protein:increased expression:plasma (human) RGD PMID:23593305 RGD:38508895 NCBI chr 5:56,980,557...56,981,661
Ensembl chr 5:56,980,558...56,981,686
JBrowse link
G Ccl3 C-C motif chemokine ligand 3 ISO associated with renal allograft recipients RGD PMID:10353879 RGD:7241836 NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased secretion:lung, secretion (human) RGD PMID:18513272 RGD:4891916 NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
JBrowse link
G Cd1d1 CD1d1 molecule exacerbates ISO RGD PMID:17379092 RGD:127345104 NCBI chr 2:172,423,582...172,427,089
Ensembl chr 2:172,423,582...172,427,089
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO protein:increased expression:plasma (human) RGD PMID:23593305 RGD:38508895 NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
JBrowse link
G Il17d interleukin 17D severity ISO RGD PMID:30209334 RGD:40903063 NCBI chr15:31,671,337...31,688,833 JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 ISO RGD PMID:25926677 RGD:40400705 NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
JBrowse link
G Il27 interleukin 27 ISO protein:increased expression:spleen, saliva-secreting gland (mouse) RGD PMID:27926930 RGD:126790498 NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
JBrowse link
G Il5 interleukin 5 ISO RGD PMID:22293286 RGD:5687156 NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
JBrowse link
G Klrk1 killer cell lectin like receptor K1 severity ISO DNA:SNP:cds: c.214A>G (rs2255336) (human) RGD PMID:28760883 PMID:25861030 RGD:39018560, RGD:39018561 NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
JBrowse link
G Mbl2 mannose binding lectin 2 severity ISO DNA:SNP:exon
DNA:polymorphism: :
RGD PMID:19715891 PMID:20712489 RGD:6903267, RGD:4889482 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mthfr methylenetetrahydrofolate reductase ameliorates ISO RGD PMID:19609317 PMID:19609317 RGD:42722609, RGD:42722609 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Ncr1 natural cytotoxicity triggering receptor 1 disease_progression
susceptibility
ISO DNA:SNP:cds: p.C14R (mouse) RGD PMID:28643847 PMID:26371250 PMID:29440507 PMID:22267813 RGD:40818245, RGD:40818246, RGD:40818249, RGD:40818251 NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558
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 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
JBrowse link
G Pdcd1 programmed cell death 1 susceptibility ISO associated with kidney transplantation; DNA:SNP: :rs11568821(human) RGD PMID:19581275 RGD:40818426 NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 severity ISO RGD PMID:29847649 RGD:127229927 NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
JBrowse link
G RT1-M3-1 RT1 class Ib, locus M3, gene 1 susceptibility ISO RGD PMID:19624485 RGD:5144145 NCBI chr20:1,323,976...1,328,126
Ensembl chr20:1,287,521...1,328,117
JBrowse link
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 exacerbates ISO RGD PMID:31548683 RGD:149735526 NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386
JBrowse link
G Selp selectin P ISO RGD PMID:21457388 RGD:6219000 NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16688530 NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
JBrowse link
G Stat2 signal transducer and activator of transcription 2 exacerbates ISO RGD PMID:29743368 RGD:41789628 NCBI chr 7:702,565...718,349
Ensembl chr 7:702,495...718,967
JBrowse link
G Sting1 stimulator of interferon response cGAMP interactor 1 ISO RGD PMID:31249303 RGD:39128225 NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:7815559 RGD:12904072 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Vcp valosin-containing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28494016 NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
JBrowse link
G Vwf von Willebrand factor ISO protein:increased expression:plasma (human) RGD PMID:23593305 RGD:38508895 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
JBrowse link
G Was WASP actin nucleation promoting factor severity ISO RGD PMID:30981413 RGD:38676256 NCBI chr  X:14,405,105...14,413,850
Ensembl chr  X:14,405,124...14,413,849
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2682973 PMID:2808362 PMID:8810255 PMID:9630231 PMID:10606976 More... NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
JBrowse link
cytomegalovirus retinitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il10 interleukin 10 ISO associated with Murine Acquired Immunodeficiency Syndrome RGD PMID:23415673 RGD:7364815 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 ISO protein:increased expression:optic cup, retina (mouse) RGD PMID:29853772 RGD:127229940 NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO associated with HIV Infections; DNA:polymorphisms, haplotype:cds:HLA-B44 (human) RGD PMID:11564593 RGD:7365106 NCBI chr20:3,314,830...3,318,106 JBrowse link
G Tnf tumor necrosis factor ISO mRNA,protein:increased expression:eye: RGD PMID:22072377 PMID:17389501 RGD:7394768, RGD:7394808 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO RGD PMID:17389501 RGD:7394808 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
JBrowse link
human cytomegalovirus infection term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ren renin ISO protein:decreased expression:blood plasma (human) RGD PMID:29752343 RGD:40400905 NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
JBrowse link

Term paths to the root
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Term Annotations click to browse term
  disease 21121
    disease by infectious agent 2212
      viral infectious disease 1677
        DNA Virus Infections 305
          Herpesviridae Infections 176
            Cytomegalovirus Infections 32
              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 1
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