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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:Streptococcal Infections
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Accession:DOID:9006844 term browser browse the term
Definition:Infections with bacteria of the genus STREPTOCOCCUS.
Synonyms:exact_synonym: Streptococcal Infection
 primary_id: MESH:D013290
For additional species annotation, visit the Alliance of Genome Resources.



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Streptococcal Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD86 CD86 molecule ISO associated with Encephalomyelitis, Experimental Autoimmune; protein:increased expression:spleen, dendritic cell (mouse) RGD PMID:16861672 RGD:4892553 NCBI chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339
JBrowse link
G IL17A interleukin 17A ISO protein:increased expression:serum (mouse) RGD PMID:22384827 RGD:8698662 NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074
JBrowse link
G LCN2 lipocalin 2 ISO mRNA,protein:increased expression:respiratory epithelium, olfactory mucosa epithelium RGD PMID:16153241 RGD:126781709 NCBI chr 9:99,259,278...99,274,494
Ensembl chr 9:127,940,799...127,944,798
JBrowse link
G MX1 MX dynamin like GTPase 1 ISO associated with pharyngitis;protein:increased expression:blood (human) RGD PMID:28077283 RGD:126777682 NCBI chr21:27,756,768...27,795,307
Ensembl chr21:41,095,928...41,123,019
JBrowse link
G TLR2 toll like receptor 2 severity ISO RGD PMID:19179417 RGD:7240559 NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
JBrowse link
G TNF tumor necrosis factor ISO associated with Otitis Media RGD PMID:8302123 RGD:11554174 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
immunodeficiency 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:143,275,165...143,295,283
Ensembl chr  X:153,162,412...153,182,424
JBrowse link
G ARHGAP4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:143,462,157...143,481,496
Ensembl chr  X:153,349,050...153,367,709
JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:143,068,171...143,133,479
Ensembl chr  X:152,955,109...153,019,445
JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:143,870,421...143,878,288
Ensembl chr  X:153,740,751...153,748,621
JBrowse link
G AVPR2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:143,458,693...143,461,945
Ensembl chr  X:153,346,466...153,348,840
JBrowse link
G BCAP31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:143,265,920...143,274,956 JBrowse link
G BGN biglycan ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:143,045,298...143,059,892
Ensembl chr  X:152,931,608...152,946,292
JBrowse link
G BRCC3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:144,550,320...144,592,795
Ensembl chr  X:154,389,283...154,428,669
JBrowse link
G CCNQ cyclin Q ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:143,138,574...143,149,824 JBrowse link
G CLIC2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:144,742,839...144,851,524
Ensembl chr  X:154,581,649...154,641,515
JBrowse link
G CMC4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:144,540,603...144,550,152
Ensembl chr  X:154,379,485...154,388,932
JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:144,243,493...144,257,419
Ensembl chr  X:154,084,412...154,098,475
JBrowse link
G DNASE1L1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:143,842,920...143,851,795
Ensembl chr  X:153,712,054...153,725,868
JBrowse link
G DUSP9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:143,192,599...143,201,647
Ensembl chr  X:153,084,555...153,088,208
JBrowse link
G EMD emerin ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:143,792,178...143,794,530 JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:144,316,192...144,505,773
Ensembl chr  X:154,156,873...154,341,317
JBrowse link
G F8A1 coagulation factor VIII associated 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:144,366,123...144,367,842 JBrowse link
G F8A2 coagulation factor VIII associated 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:144,851,466...144,853,185 JBrowse link
G FAM3A FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:143,947,867...143,957,966
Ensembl chr  X:153,817,983...153,828,152
JBrowse link
G FAM50A family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:143,885,931...143,892,435 JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:143,799,088...143,825,282 JBrowse link
G FUNDC2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:144,505,703...144,534,871
Ensembl chr  X:154,345,251...154,374,743
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:143,972,798...143,988,960
Ensembl chr  X:153,843,092...153,860,674
JBrowse link
G GAB3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:144,150,062...144,232,216
Ensembl chr  X:153,993,736...154,038,529
JBrowse link
G GDI1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:143,878,690...143,885,251
Ensembl chr  X:153,749,661...153,755,877
JBrowse link
G HAUS7 HAUS augmin like complex subunit 7 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:142,998,240...143,032,602
Ensembl chr  X:152,881,714...152,907,620
JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:143,502,159...143,526,418
Ensembl chr  X:153,389,859...153,412,999
JBrowse link
G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:143,336,460...143,345,274
Ensembl chr  X:153,222,309...153,231,135
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: Immunodeficiency without anhidrotic ectodermal dysplasia OMIM
ClinVar
PMID:11590134 PMID:12459250 PMID:15229184 PMID:15356572 PMID:15577852 More... NCBI chr  X:143,988,720...144,010,078
Ensembl chr  X:153,854,493...153,876,092
JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:143,560,802...143,570,185
Ensembl chr  X:153,446,827...153,460,602
JBrowse link
G L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:143,412,303...143,437,090
Ensembl chr  X:153,298,690...153,324,228
JBrowse link
G LAGE3 L antigen family member 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:143,919,519...143,921,001
Ensembl chr  X:153,790,672...153,792,549
JBrowse link
G LOC100975352 sodium- and chloride-dependent creatine transporter 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 Ensembl chr  X:153,126,415...153,133,189 JBrowse link
G LOC100991889 interleukin-9 receptor ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr 9:109,268,011...109,277,418
Ensembl chr  X:155,373,324...155,386,631
JBrowse link
G LOC100992822 histone H2A-Bbd type 2/3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:144,364,612...144,365,333 JBrowse link
G LOC117977735 histone H2A-Bbd type 2/3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:144,849,954...144,850,606 JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:143,571,864...143,647,192
Ensembl chr  X:153,465,204...153,527,854
JBrowse link
G MPP1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:144,258,416...144,285,658
Ensembl chr  X:154,099,463...154,126,575
JBrowse link
G MTCP1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:144,542,898...144,550,059
Ensembl chr  X:154,382,737...154,385,472
JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:143,484,008...143,489,904 JBrowse link
G PDZD4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:143,352,944...143,381,428
Ensembl chr  X:153,240,182...153,267,874
JBrowse link
G PLXNA3 plexin A3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:143,900,029...143,915,391
Ensembl chr  X:153,772,700...153,786,167
JBrowse link
G PLXNB3 plexin B3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:143,314,794...143,330,066
Ensembl chr  X:153,200,971...153,215,909
JBrowse link
G PNCK pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:143,220,029...143,224,659
Ensembl chr  X:153,106,491...153,123,897
JBrowse link
G RAB39B RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:144,728,535...144,734,893
Ensembl chr  X:154,567,361...154,573,715
JBrowse link
G RENBP renin binding protein ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:143,490,103...143,499,487
Ensembl chr  X:153,376,847...153,386,214
JBrowse link
G RPL10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:143,839,739...143,844,026 JBrowse link
G SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:143,929,086...143,932,406
Ensembl chr  X:153,800,354...153,803,653
JBrowse link
G SMIM9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:144,303,611...144,311,226
Ensembl chr  X:154,144,752...154,151,903
JBrowse link
G SPRY3 sprouty RTK signaling antagonist 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:145,080,299...145,239,922
Ensembl chr  X:155,131,596...155,132,462
JBrowse link
G SRPK3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:143,331,213...143,336,426
Ensembl chr  X:153,216,794...153,222,273
JBrowse link
G SSR4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:143,344,286...143,349,272
Ensembl chr  X:153,230,137...153,235,124
JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:143,853,054...143,863,491
Ensembl chr  X:153,725,294...153,734,046
JBrowse link
G TEX28 testis expressed 28 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:143,711,495...143,736,128 JBrowse link
G TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:143,736,589...143,772,277 JBrowse link
G TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:143,527,152...143,533,708
Ensembl chr  X:153,419,802...153,420,587
JBrowse link
G TMLHE trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:144,956,906...145,081,204 JBrowse link
G TREX2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:142,995,051...142,998,178 JBrowse link
G UBL4A ubiquitin like 4A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:143,925,494...143,928,444 JBrowse link
G VAMP7 vesicle associated membrane protein 7 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:145,362,432...145,425,097
Ensembl chr  X:155,257,185...155,320,215
JBrowse link
G VBP1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:144,685,548...144,709,136
Ensembl chr  X:154,504,795...154,547,773
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 term: Invasive pneumococcal disease, recurrent isolated OMIM
ClinVar
PMID:9536098 PMID:9789052 PMID:12637671 PMID:12925671 PMID:15520784 More... NCBI chr12:44,941,862...44,972,520
Ensembl chr12:45,810,917...45,841,492
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 chr11:121,100,558...121,112,844
Ensembl chr11:125,018,064...125,022,309
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: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18669862 PMID:20538326 PMID:21179087 More... NCBI chr 3:38,036,565...38,041,014
Ensembl chr 3:38,319,024...38,323,572
JBrowse link
Pneumococcal Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFH complement factor H exacerbates ISO RGD PMID:26802141 RGD:108019050 NCBI chr 1:172,155,882...172,251,632
Ensembl chr 1:176,455,247...176,525,521
JBrowse link
G IL17A interleukin 17A susceptibility ISO associated with Bronchiolitis;DNA:SNP:promoter:rs2275913 (human) RGD PMID:20437253 RGD:4889139 NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074
JBrowse link
G IL27 interleukin 27 ISO associated with influenza A;protein:increased expression:lung (mouse) RGD PMID:24408967 RGD:11556418
G NFKBIA NFKB inhibitor alpha susceptibility ISO DNA:SNPs:enhancers: (rs3138053, rs2233406) (human)
DNA:SNP: :(rs1050851) (human)
RGD PMID:17463416 PMID:29407193 RGD:127285388 RGD:127285391 NCBI chr14:16,155,331...16,158,588 JBrowse link
G TIRAP TIR domain containing adaptor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:17322885 NCBI chr11:121,100,558...121,112,844
Ensembl chr11:125,018,064...125,022,309
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 ISO RGD PMID:24491581 RGD:13703038 NCBI chr2A:9,478,080...9,545,363
Ensembl chr2A:9,641,201...9,708,054
JBrowse link
G AQP4 aquaporin 4 treatment ISO protein:increased expression:brain: RGD PMID:15695511 RGD:8698660 NCBI chr18:20,108,607...20,122,381
Ensembl chr18:23,713,146...23,726,919
JBrowse link
G ATM ATM serine/threonine kinase ameliorates ISO RGD PMID:15529270 RGD:126781748 NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
JBrowse link
G CAMP cathelicidin antimicrobial peptide ISO protein:increased expression:brain, coronal section (rat) RGD PMID:19879657 RGD:2316237 NCBI chr 3:48,137,785...48,139,893
Ensembl chr 3:49,222,110...49,224,250
JBrowse link
G CXCL1 C-X-C motif chemokine ligand 1 ISO RGD PMID:21109308 RGD:5134982 NCBI chr 4:50,325,248...50,327,165
Ensembl chr 4:56,153,899...56,159,474
JBrowse link
G CYSLTR1 cysteinyl leukotriene receptor 1 disease_progression ISO mRNA, protein:increased expression:brain (rat) RGD PMID:31933824 RGD:40903068 NCBI chr  X:67,412,410...67,469,366
Ensembl chr  X:77,524,455...77,525,468
JBrowse link
G CYSLTR2 cysteinyl leukotriene receptor 2 ISO mRNA, protein:increased expression:brain (rat) RGD PMID:31933824 RGD:40903068 NCBI chr13:29,796,598...29,853,676
Ensembl chr13:48,551,757...48,552,797
JBrowse link
G IDO1 indoleamine 2,3-dioxygenase 1 treatment ISO RGD PMID:24844751 RGD:39939118 NCBI chr 8:39,108,310...39,123,611
Ensembl chr 8:36,617,312...36,632,352
JBrowse link
G IL6 interleukin 6 treatment ISO protein:increased expression:brain RGD PMID:8943431 PMID:11581077 PMID:25443778 RGD:11060264 RGD:11062107 RGD:9831197 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G LGALS3 galectin 3 ISO mRNA, protein:increased expression:brain RGD PMID:17706429 RGD:9685206 NCBI chr14:35,715,850...35,732,263
Ensembl chr14:53,990,023...54,006,412
JBrowse link
G LGALS9 galectin 9 ISO RGD PMID:17706429 RGD:9685206 NCBI chr17:29,125,460...29,145,028
Ensembl chr17:29,623,398...29,642,959
JBrowse link
G MARCO macrophage receptor with collagenous structure ISO protein:increased expression:meninges, astrocyte RGD PMID:21299846 RGD:41412190 NCBI chr2B:5,896,433...5,940,284
Ensembl chr2B:119,475,677...119,520,385
JBrowse link
G MMP2 matrix metallopeptidase 2 treatment ISO RGD PMID:24419461 RGD:8657111 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO protein:increased expression:cerebrospinal fluid RGD PMID:17371820 PMID:24419461 RGD:1642043 RGD:8657111 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 ISO mRNA, protein:increased expression:brain RGD PMID:25443778 RGD:9831197 NCBI chr16:30,955,976...30,995,451
Ensembl chr16:49,837,891...49,873,773
JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 ISO mRNA:increased expression:brain RGD PMID:21603940 RGD:5684913 NCBI chr 9:39,663,986...40,208,770
Ensembl chr 9:84,021,837...84,372,678
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO protein:increased expression:brain, nucleus RGD PMID:25443778 RGD:9831197 NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868
JBrowse link
G SERPING1 serpin family G member 1 treatment ISO RGD PMID:17538891 RGD:8661645 NCBI chr11:52,838,502...52,855,781
Ensembl chr11:56,309,686...56,326,639
JBrowse link
G TLR2 toll like receptor 2 ISO mRNA:increased expression: : RGD PMID:12781911 RGD:7794740 NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
JBrowse link
G TLR4 toll like receptor 4 ISO mRNA:increased expression: : RGD PMID:12781911 RGD:7794740 NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
JBrowse link
G TNF tumor necrosis factor disease_progression ISO protein:increased expression:brain
mRNA:increased expression:brain (rat)
RGD PMID:25443778 PMID:31933824 RGD:40903068 RGD:9831197 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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 chr12:8,688,392...8,699,008
Ensembl chr12:8,904,273...8,913,917
JBrowse link
G ALOX5 arachidonate 5-lipoxygenase ISO RGD PMID:20231413 RGD:4890435 NCBI chr10:42,461,398...42,531,576
Ensembl chr10:45,639,946...45,710,016
JBrowse link
G BTK Bruton tyrosine kinase ameliorates ISO RGD PMID:30646846 RGD:124715470 NCBI chr  X:90,551,874...90,588,786
Ensembl chr  X:100,684,017...100,725,187
JBrowse link
G C3 complement C3 disease_progression ISO associated with Liver Cirrhosis, Experimental;protein:decreased expression:respiratory system fluid/secretion
protein:decreased expression:serum
RGD PMID:20405 PMID:15972516 PMID:17956621 RGD:5129509 RGD:5129523 RGD:5130163 NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
JBrowse link
G C5 complement C5 severity ISO RGD PMID:7814608 RGD:5130159 NCBI chr 9:92,069,574...92,202,513
Ensembl chr 9:120,426,354...120,523,856
JBrowse link
G CCL5 C-C motif chemokine ligand 5 susceptibility ISO RGD PMID:16455992 RGD:4892130 NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172
JBrowse link
G CD14 CD14 molecule ISO RGD PMID:17185649 RGD:4144788 NCBI chr 5:135,996,265...135,997,909
Ensembl chr 5:142,113,082...142,118,966
JBrowse link
G CHI3L1 chitinase 3 like 1 ISO protein:increased secretion:serum (human) RGD PMID:10515841 RGD:4892626 NCBI chr 1:178,778,081...178,789,704
Ensembl chr 1:183,075,312...183,083,229
JBrowse link
G CRHR1 corticotropin releasing hormone receptor 1 ISO RGD PMID:21774994 RGD:5147472 NCBI chr17:11,261,435...11,313,630
Ensembl chr17:11,650,057...11,701,208
JBrowse link
G CRHR2 corticotropin releasing hormone receptor 2 ISO RGD PMID:21774994 RGD:5147472 NCBI chr 7:31,265,619...31,313,902
Ensembl chr 7:31,386,026...31,434,220
JBrowse link
G CRP C-reactive protein disease_progression ISO RGD PMID:21281676 RGD:5131293 NCBI chr 1:135,062,102...135,064,402 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 chr 4:50,325,248...50,327,165
Ensembl chr 4:56,153,899...56,159,474
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24894820 NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083
JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 ISO protein:increased expression:lung RGD PMID:20381636 RGD:5135285 NCBI chr 4:48,198,478...48,204,658
Ensembl chr 4:54,036,342...54,042,502
JBrowse link
G DEFB4A defensin beta 4A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24894820 NCBI chr 8:11,061,642...11,063,857 JBrowse link
G HMOX1 heme oxygenase 1 ISO associated with influenza;protein:increased expression:lung RGD PMID:17348295 RGD:4145366 NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063
JBrowse link
G IL15 interleukin 15 ISO protein:increased expression:alveolar macrophage, bronchial epithelial cell RGD PMID:17611121 RGD:5000755 NCBI chr 4:133,693,995...134,115,470
Ensembl chr 4:145,402,111...145,416,622
JBrowse link
G IL15RA interleukin 15 receptor subunit alpha ISO RGD PMID:17611121 RGD:5000755 NCBI chr10:5,993,583...6,019,967 JBrowse link
G IL17A interleukin 17A ISO RGD PMID:19995896 RGD:4888531 NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074
JBrowse link
G IL18 interleukin 18 ISO RGD PMID:15770015 RGD:4889960 NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
JBrowse link
G IL6 interleukin 6 ISO RGD PMID:20643849 RGD:4143255 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G LEP leptin ISO RGD PMID:17822444 RGD:5128869 NCBI chr 7:120,230,896...120,248,602
Ensembl chr 7:132,885,011...132,901,519
JBrowse link
G LEPR leptin receptor ISO RGD PMID:21148797 RGD:5128846 NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24894820 NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24894820 Ensembl chr16:30,489,362...30,498,017 JBrowse link
G MASP2 MBL associated serine protease 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12904520 NCBI chr 1:9,787,565...9,810,276
Ensembl chr 1:11,009,760...11,030,734
JBrowse link
G MBL2 mannose binding lectin 2 no_association ISO DNA:polymorphisms:5' utr, exon:multiple (human)
DNA:mutations:5' utr, exon:multiple (human)
RGD PMID:12047967 PMID:18641104 RGD:4889477 RGD:4889478 NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432
JBrowse link
G NOS2 nitric oxide synthase 2 ISO RGD PMID:17056580 RGD:4891950 NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093
JBrowse link
G PTEN phosphatase and tensin homolog ameliorates ISO myeloid knockout RGD PMID:20505137 RGD:127285597 NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
JBrowse link
G SFTPD surfactant protein D severity ISO RGD PMID:16255775 RGD:4143519 NCBI chr10:76,275,147...76,318,952
Ensembl chr10:78,965,252...78,974,181
JBrowse link
G SIRT1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24894820 NCBI chr10:64,368,878...64,401,684
Ensembl chr10:66,681,598...66,715,069
JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 ISO RGD PMID:29263110 RGD:39128230 NCBI chr 5:134,845,689...134,852,938
Ensembl chr 5:140,967,399...140,973,846
JBrowse link
G TLR2 toll like receptor 2 ISO RGD PMID:19956717 RGD:4145321 NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
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 chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G TREM1 triggering receptor expressed on myeloid cells 1 ameliorates ISO RGD PMID:19596984 PMID:24752755 RGD:126928121 RGD:127229903 NCBI chr 6:40,861,283...40,874,446
Ensembl chr 6:42,163,337...42,183,091
JBrowse link
rheumatic fever term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GC GC vitamin D binding protein ISO RGD PMID:2737695 RGD:5509933 NCBI chr 4:52,431,196...52,473,762
Ensembl chr 4:58,729,236...58,792,073
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased expression:serum RGD PMID:14567831 RGD:13702910 NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain ISO DNA:polymorphisms, haplotypes:multiple RGD PMID:17559688 RGD:5147792 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
JBrowse link
rheumatic heart disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD36 CD36 molecule ISO mRNA:decreased expression:blood, mononuclear cell RGD PMID:16741676 RGD:6893529 NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865
JBrowse link
G FCN3 ficolin 3 ISO ClinVar Annotator: match by term: Rheumatic heart disease ClinVar NCBI chr 1:26,620,373...26,636,424
Ensembl chr 1:27,676,866...27,683,861
JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO RGD PMID:26823728 RGD:13792679 NCBI chr12:6,665,218...6,669,170
Ensembl chr12:6,583,895...6,587,729
JBrowse link
G IGF1 insulin like growth factor 1 ISO RGD PMID:16406300 RGD:1582623 NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
JBrowse link
G IL10 interleukin 10 no_association ISO RGD PMID:16043936 RGD:1598626 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain ISO DNA:polymorphisms:cds:HLA-DQB1*08 (human) RGD PMID:17578051 RGD:5147630 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:16406300 RGD:1582623 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G SOCS1 suppressor of cytokine signaling 1 treatment ISO RGD PMID:31894293 RGD:151347417 NCBI chr16:10,196,432...10,198,205 JBrowse link
rheumatic myocarditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ICAM1 intercellular adhesion molecule 1 severity ISO protein:increased expression:serum RGD PMID:22987107 RGD:13702907 NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
JBrowse link
G SELE selectin E severity ISO protein:increased expression:serum RGD PMID:22987107 RGD:13702907 NCBI chr 1:145,205,684...145,217,143
Ensembl chr 1:148,930,437...148,938,313
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 severity ISO protein:increased expression:serum RGD PMID:22987107 RGD:13702907 NCBI chr 1:103,377,815...103,395,118
Ensembl chr 1:102,091,336...102,107,732
JBrowse link
Streptococcus pneumonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATM ATM serine/threonine kinase exacerbates ISO RGD PMID:27421701 RGD:126779562 NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
JBrowse link
G BTK Bruton tyrosine kinase ISO RGD PMID:30873567 RGD:124715473 NCBI chr  X:90,551,874...90,588,786
Ensembl chr  X:100,684,017...100,725,187
JBrowse link
G IDO1 indoleamine 2,3-dioxygenase 1 ISO mRNA:increased expression:lung (mouse) RGD PMID:20385761 RGD:39938865 NCBI chr 8:39,108,310...39,123,611
Ensembl chr 8:36,617,312...36,632,352
JBrowse link
G IFNG interferon gamma ISO protein:increased expression:lung,natural killer cell (mouse) RGD PMID:21887255 RGD:40818252 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:lung,natural killer cell (mouse) RGD PMID:21887255 RGD:40818252 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G IRAK3 interleukin 1 receptor associated kinase 3 severity ISO RGD PMID:22492852 RGD:35316076 NCBI chr12:22,661,613...22,721,203
Ensembl chr12:23,168,346...23,227,148
JBrowse link
G ITGB2 integrin subunit beta 2 susceptibility ISO RGD PMID:11390487 RGD:127345090 NCBI chr21:31,181,228...31,216,033
Ensembl chr21:44,470,999...44,505,963
JBrowse link
G LAMP1 lysosomal associated membrane protein 1 ISO protein:increased expression:lung, natural killer cell (mouse) RGD PMID:21887255 RGD:40818252 NCBI chr13:94,442,507...94,464,061
Ensembl chr13:113,507,401...113,530,457
JBrowse link
G LOC100978434 C-type lectin domain family 4 member M severity ISO RGD PMID:16134084 RGD:39938986 NCBI chr19:7,062,961...7,069,381 JBrowse link
G MARCO macrophage receptor with collagenous structure exacerbates ISO RGD PMID:15263032 RGD:41412189 NCBI chr2B:5,896,433...5,940,284
Ensembl chr2B:119,475,677...119,520,385
JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 severity ISO RGD PMID:21887255 RGD:40818252 NCBI chr19:51,951,496...51,957,433
Ensembl chr19:60,645,677...60,652,274
JBrowse link
G PDCD1 programmed cell death 1 treatment ISO RGD PMID:25624454 RGD:40818422 NCBI chr2B:129,111,509...129,121,127 JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta treatment ISO associated with immunodeficiency 14 RGD PMID:30093657 RGD:40890269 NCBI chr 1:8,418,570...8,495,435
Ensembl chr 1:9,686,208...9,724,633
JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma severity ISO RGD PMID:17322108 RGD:38599154 NCBI chr 7:98,841,974...98,885,446
Ensembl chr 7:111,570,148...111,611,614
JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 exacerbates ISO RGD PMID:33625952 RGD:127229925 NCBI chr14:5,112,512...5,116,486
Ensembl chr14:23,235,796...23,239,821
JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:lung,natural killer cell (mouse) RGD PMID:21887255 RGD:40818252 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14685
    disease by infectious agent 1997
      Bacterial Infections and Mycoses 916
        bacterial infectious disease 726
          Gram-Positive Bacterial Infections 348
            Streptococcal Infections 143
              Immune Suppression 0
              Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections 0
              Pneumococcal Infections + 119
              Streptococcus pneumonia 16
              ecthyma 0
              erysipelas 0
              impetigo + 0
              rheumatic fever + 12
              scarlet fever 0
              subacute bacterial endocarditis 0
paths to the root