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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;   RDO:0004460
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO protein:increased expression:plasma (human) RGD PMID:23593305 RGD:38508895 NCBI chr 5:58,197,678...58,198,782
Ensembl chr 5:58,197,680...58,198,782
JBrowse link
G Ccl3 C-C motif chemokine ligand 3 ISO associated with renal allograft recipients RGD PMID:10353879 RGD:7241836 NCBI chr10:70,869,516...70,871,066
Ensembl chr10:70,869,513...70,871,066
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased secretion:lung, secretion (human) RGD PMID:18513272 RGD:4891916 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO protein:increased expression:plasma (human) RGD PMID:23593305 RGD:38508895 NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 ISO RGD PMID:25926677 RGD:40400705 NCBI chr 9:47,133,483...47,184,316
Ensembl chr 9:47,134,034...47,182,170
JBrowse link
G Il5 interleukin 5 ISO RGD PMID:22293286 RGD:5687156 NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
JBrowse link
G Klre1 killer cell lectin-like receptor, family E, member 1 severity ISO DNA:SNP:cds: c.214A>G (rs2255336) (human) RGD PMID:25861030 RGD:39018561 NCBI chr 4:163,346,684...163,355,050
Ensembl chr 4:163,349,125...163,354,976
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 4:163,392,652...163,403,735
Ensembl chr 4:163,393,217...163,403,653
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 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Ncr1 natural cytotoxicity triggering receptor 1 disease_progression
susceptibility
ISO DNA:SNP:cds: p.C14R (mouse) RGD PMID:28643847, PMID:22267813, PMID:29440507, PMID:26371250 RGD:40818245, RGD:40818251, RGD:40818249, RGD:40818246 NCBI chr 1:73,178,917...73,226,504
Ensembl chr 1:73,179,013...73,226,777
JBrowse link
G RT1-M3-1 RT1 class Ib, locus M3, gene 1 susceptibility ISO RGD PMID:19624485 RGD:5144145 NCBI chr20:1,814,661...1,833,033
Ensembl chr20:1,814,661...1,818,800
JBrowse link
G Selp selectin P ISO RGD PMID:21457388 RGD:6219000 NCBI chr13:82,428,914...82,464,629
Ensembl chr13:82,429,063...82,464,628
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16688530 NCBI chr 9:54,287,540...54,327,958
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Sting1 stimulator of interferon response cGAMP interactor 1 ISO RGD PMID:31249303 RGD:39128225 NCBI chr18:28,529,537...28,535,828
Ensembl chr18:28,529,576...28,535,828
JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:7815559 RGD:12904072 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Vcp valosin-containing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28494016 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
JBrowse link
G Vwf von Willebrand factor ISO protein:increased expression:plasma (human) RGD PMID:23593305 RGD:38508895 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link
G Was WASP actin nucleation promoting factor severity ISO RGD PMID:30981413 RGD:38676256 NCBI chr  X:15,155,246...15,164,099
Ensembl chr  X:15,155,230...15,164,105
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
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:609889
OMIM
ClinVar
PMID:9630231, PMID:11121059, PMID:11133745, PMID:11313270, PMID:16276422, PMID:17890453, PMID:18592361, PMID:19246248, PMID:24144642, PMID:24290284, PMID:25741868, PMID:25976673, PMID:28492532, PMID:28769923, PMID:30307608 NCBI chr 3:91,206,394...91,217,491
Ensembl chr 3:91,206,394...91,217,491
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 chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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
G Tnf tumor necrosis factor ISO mRNA,protein:increased expression:eye: RGD PMID:22072377, PMID:17389501 RGD:7394768, RGD:7394808 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO RGD PMID:17389501 RGD:7394808 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease by infectious agent 1774
      viral infectious disease 1466
        DNA Virus Infections 212
          Herpesviridae Infections 115
            Cytomegalovirus Infections 23
              Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 1
              Cytomegalic Inclusion Body Disease 0
              cytomegalovirus retinitis 4
              human cytomegalovirus infection 0
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.