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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:Pneumococcal Infections
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Accession:DOID:9000989 term browser browse the term
Definition:Infections with bacteria of the species STREPTOCOCCUS PNEUMONIAE.
Synonyms:exact_synonym: Pneumococcal Infection;   Streptococcus pneumoniae Infection;   Streptococcus pneumoniae Infections
 primary_id: MESH:D011008;   RDO:0006110
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Pneumococcal Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il17a interleukin 17A susceptibility ISO associated with Bronchiolitis;DNA:SNP:promoter:rs2275913 (human) RGD PMID:20437253 RGD:4889139 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Tirap TIR domain containing adaptor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:17322885 NCBI chr 8:36,382,029...36,399,625
Ensembl chr 8:36,385,353...36,388,224
JBrowse link
G Tlr9 toll-like receptor 9 ISO RGD PMID:17004992 RGD:5130710 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
immunodeficiency 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 33, MYCOBACTERIOSIS, X-LINKED ClinVar PMID:25741868 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 33
ClinVar Annotator: match by term: Invasive pneumococcal disease, recurrent isolated, 2
ClinVar Annotator: match by term: Immunodeficiency without anhidrotic ectodermal dysplasia
ClinVar Annotator: match by term: IMMUNODEFICIENCY 33, MYCOBACTERIOSIS, X-LINKED
ClinVar Annotator: match by OMIM:300636
OMIM
ClinVar
PMID:11590134, PMID:12459250, PMID:15229184, PMID:15356572, PMID:15577852, PMID:15833888, PMID:16532398, PMID:16818673, PMID:16950813, PMID:18179816, PMID:25068423, PMID:25741868, PMID:28993958, PMID:29534156, PMID:31965418 NCBI chr  X:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748
JBrowse link
Immunodeficiency 67 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irak4 interleukin-1 receptor-associated kinase 4 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 67
ClinVar Annotator: match by OMIM:607676
ClinVar Annotator: match by null
ClinVar Annotator: match by term: IRAK4 deficiency
OMIM
ClinVar
PMID:9789052, PMID:12637671, PMID:12925671, PMID:15520784, PMID:16647421, PMID:16950813, PMID:17114497, PMID:17312103, PMID:17544092, PMID:17878374, PMID:17893200, PMID:19663824, PMID:20621347, PMID:21057262, PMID:23538514, PMID:24033266, PMID:24316379, PMID:25344726, PMID:25741868, PMID:26472314, PMID:26825884, PMID:28492532 NCBI chr 7:135,803,723...135,831,006
Ensembl chr 7:135,803,698...135,832,652
JBrowse link
G Tirap TIR domain containing adaptor protein ISO ClinVar Annotator: match by term: Invasive pneumococcal disease, protection against ClinVar PMID:16991088, PMID:17322885, PMID:18305471 NCBI chr 8:36,382,029...36,399,625
Ensembl chr 8:36,385,353...36,388,224
JBrowse link
Immunodeficiency 68 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myd88 MYD88, innate immune signal transduction adaptor ISO ClinVar Annotator: match by term: Myd88 deficiency
ClinVar Annotator: match by OMIM:612260
OMIM
ClinVar
PMID:18669862, PMID:21179087, PMID:22931316, PMID:23215570, PMID:24728327, PMID:26619011, PMID:28492532, PMID:31301515 NCBI chr 8:128,022,512...128,027,462
Ensembl chr 8:128,022,473...128,026,841
JBrowse link
Pneumococcal Meningitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam17 ADAM metallopeptidase domain 17 treatment IMP RGD PMID:24491581 RGD:13703038 NCBI chr 6:43,400,525...43,448,280
Ensembl chr 6:43,400,528...43,448,280
JBrowse link
G Aqp4 aquaporin 4 treatment ISO protein:increased expression:brain: RGD PMID:15695511, PMID:15695511 RGD:8698660, RGD:8698660 NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
JBrowse link
G Camp cathelicidin antimicrobial peptide IEP protein:increased expression:brain, coronal section (rat) RGD PMID:19879657 RGD:2316237 NCBI chr 8:117,930,557...117,932,371
Ensembl chr 8:117,930,546...117,932,518
JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 IEP RGD PMID:21109308 RGD:5134982 NCBI chr14:18,743,678...18,745,457
Ensembl chr14:18,743,685...18,745,457
JBrowse link
G Il6 interleukin 6 treatment IEP
IDA
IMP
protein:increased expression:brain RGD PMID:25443778, PMID:8943431, PMID:11581077 RGD:9831197, RGD:11062107, RGD:11060264 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Lgals3 galectin 3 IEP mRNA, protein:increased expression:brain RGD PMID:17706429 RGD:9685206 NCBI chr15:24,153,602...24,165,537
Ensembl chr15:24,141,651...24,165,537
JBrowse link
G Lgals9 galectin 9 IEP RGD PMID:17706429 RGD:9685206 NCBI chr10:64,737,022...64,760,195
Ensembl chr10:64,737,022...64,760,201
JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment IMP RGD PMID:24419461 RGD:8657111 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment IEP
IMP
protein:increased expression:cerebrospinal fluid RGD PMID:17371820, PMID:24419461 RGD:1642043, RGD:8657111 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO mRNA, protein:increased expression:brain RGD PMID:25443778 RGD:9831197 NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 IEP mRNA:increased expression:brain RGD PMID:21603940 RGD:5684913 NCBI chr17:5,934,651...6,245,778
Ensembl chr17:5,933,729...6,244,676
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit IEP protein:increased expression:brain, nucleus RGD PMID:25443778 RGD:9831197 NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
JBrowse link
G Serping1 serpin family G member 1 treatment ISO RGD PMID:17538891 RGD:8661645 NCBI chr 3:72,161,230...72,171,109
Ensembl chr 3:72,161,189...72,171,078
JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA:increased expression: : RGD PMID:12781911 RGD:7794740 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA:increased expression: : RGD PMID:12781911 RGD:7794740 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tlr9 toll-like receptor 9 ISO mRNA:increased expression: : RGD PMID:12781911 RGD:7794740 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
G Tnf tumor necrosis factor IEP protein:increased expression:brain RGD PMID:25443778 RGD:9831197 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
Pneumococcal Pneumonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation-induced cytidine deaminase ISO RGD PMID:26456931 RGD:11098923 NCBI chr 4:155,359,909...155,371,104
Ensembl chr 4:155,359,921...155,369,671
JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO RGD PMID:20231413 RGD:4890435 NCBI chr 4:148,398,004...148,446,308
Ensembl chr 4:148,398,892...148,446,303
JBrowse link
G C3 complement C3 disease_progression ISO
IEP
protein:decreased expression:serum
associated with Liver Cirrhosis, Experimental;protein:decreased expression:respiratory system fluid/secretion
RGD PMID:20405, PMID:17956621, PMID:15972516 RGD:5130163, RGD:5129523, RGD:5129509 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G C5 complement C5 severity ISO RGD PMID:7814608 RGD:5130159 NCBI chr 3:14,049,993...14,113,931
NCBI chr 3:14,206,466...14,229,141
Ensembl chr 3:14,049,995...14,229,080
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 susceptibility ISO RGD PMID:16455992 RGD:4892130 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Cd14 CD14 molecule ISO RGD PMID:17185649 RGD:4144788 NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
JBrowse link
G Chi3l1 chitinase 3 like 1 ISO protein:increased secretion:serum (human) RGD PMID:10515841 RGD:4892626 NCBI chr13:51,022,844...51,030,797
Ensembl chr13:51,022,681...51,030,802
JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 ISO RGD PMID:21774994 RGD:5147472 NCBI chr10:92,191,473...92,233,662
Ensembl chr10:92,191,718...92,232,645
JBrowse link
G Crhr2 corticotropin releasing hormone receptor 2 ISO RGD PMID:21774994 RGD:5147472 NCBI chr 4:85,286,371...85,329,374
Ensembl chr 4:85,286,372...85,329,362
JBrowse link
G Crp C-reactive protein disease_progression ISO RGD PMID:21281676 RGD:5131293 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:20958976 RGD:5134957 NCBI chr14:18,743,678...18,745,457
Ensembl chr14:18,743,685...18,745,457
JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO protein:increased expression:lung RGD PMID:20381636 RGD:5135285 NCBI chr14:17,228,832...17,233,743
Ensembl chr14:17,228,856...17,234,712
JBrowse link
G Defb4 defensin beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24894820 NCBI chr16:75,634,598...75,637,789
Ensembl chr16:75,634,598...75,637,789
JBrowse link
G Hmox1 heme oxygenase 1 ISO associated with influenza;protein:increased expression:lung RGD PMID:17348295 RGD:4145366 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Hp haptoglobin ISO RGD PMID:19396720 RGD:5147385 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Il15 interleukin 15 ISO protein:increased expression:alveolar macrophage, bronchial epithelial cell RGD PMID:17611121 RGD:5000755 NCBI chr19:23,542,606...23,624,366
Ensembl chr19:23,542,889...23,554,594
JBrowse link
G Il15ra interleukin 15 receptor subunit alpha ISO RGD PMID:17611121 RGD:5000755 NCBI chr17:70,451,861...70,481,838
Ensembl chr17:70,451,411...70,481,750
JBrowse link
G Il17a interleukin 17A ISO RGD PMID:19995896 RGD:4888531 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il18 interleukin 18 ISO RGD PMID:15770015 RGD:4889960 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il6 interleukin 6 ISO RGD PMID:20643849 RGD:4143255 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Lep leptin ISO RGD PMID:17822444 RGD:5128869 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Lepr leptin receptor ISO RGD PMID:21148797 RGD:5128846 NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24894820 NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24894820 NCBI chr 1:198,192,773...198,198,975
Ensembl chr 1:198,192,773...198,198,975
JBrowse link
G Masp2 mannan-binding lectin serine peptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12904520 NCBI chr 5:165,415,105...165,429,857
Ensembl chr 5:165,415,136...165,430,054
JBrowse link
G Mbl2 mannose binding lectin 2 no_association ISO DNA:mutations:5' utr, exon:multiple (human)
DNA:polymorphisms:5' utr, exon:multiple (human)
RGD PMID:18641104, PMID:12047967 RGD:4889477, RGD:4889478 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Nos2 nitric oxide synthase 2 ISO RGD PMID:17056580 RGD:4891950 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Sftpd surfactant protein D severity ISO RGD PMID:16255775 RGD:4143519 NCBI chr16:18,753,535...18,766,100
Ensembl chr16:18,745,458...18,766,174
JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24894820 NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
JBrowse link
G Tlr2 toll-like receptor 2 ISO RGD PMID:19956717 RGD:4145321 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tnf tumor necrosis factor ISO associated with influenza;protein:increased expression:lung RGD PMID:9032201, PMID:17348295 RGD:4143479, RGD:4145366 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease by infectious agent 1748
      Bacterial Infections and Mycoses 644
        bacterial infectious disease 543
          Gram-Positive Bacterial Infections 178
            Streptococcal Infections 63
              Pneumococcal Infections 49
                Immunodeficiency 67 2
                Immunodeficiency 68 1
                Pneumococcal Meningitis 17
                Pneumococcal Pneumonia 31
                immunodeficiency 33 2
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.