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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 chr13:138,427,573...138,504,307
Ensembl chr13:138,427,533...138,504,310
JBrowse link
G IL17A interleukin 17A ISO protein:increased expression:serum (mouse) RGD PMID:22384827 RGD:8698662 NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
JBrowse link
G LCN2 lipocalin 2 ISO mRNA,protein:increased expression:respiratory epithelium, olfactory mucosa epithelium RGD PMID:16153241 RGD:126781709 NCBI chr 1:268,609,975...268,614,651
Ensembl chr 1:268,609,887...268,614,644
JBrowse link
G MX1 MX dynamin like GTPase 1 ISO associated with pharyngitis;protein:increased expression:blood (human) RGD PMID:28077283 RGD:126777682 NCBI chr13:204,843,049...204,868,927
Ensembl chr13:204,843,754...204,868,922
JBrowse link
G TLR2 toll like receptor 2 severity ISO RGD PMID:19179417 RGD:7240559 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
JBrowse link
G TNF tumor necrosis factor ISO associated with Otitis Media RGD PMID:8302123 RGD:11554174 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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:124,485,076...124,501,742
Ensembl chr  X:124,485,076...124,501,741
JBrowse link
G ARHGAP4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,641,222...124,655,312
Ensembl chr  X:124,641,226...124,655,279
JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,318,874...124,357,653
Ensembl chr  X:124,301,713...124,357,653
JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,952,532...124,960,344
Ensembl chr  X:124,952,500...124,960,343
JBrowse link
G AVPR2 vasopressin receptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,638,433...124,640,969
Ensembl chr  X:124,638,523...124,640,966
JBrowse link
G BCAP31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,456,999...124,484,923
Ensembl chr  X:124,457,001...124,484,743
JBrowse link
G BGN biglycan ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,282,048...124,295,450
Ensembl chr  X:124,275,305...124,295,445
JBrowse link
G BRCC3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,383,392...125,439,082
Ensembl chr  X:125,383,414...125,439,082
JBrowse link
G CCNQ cyclin Q ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,361,003...124,370,072
Ensembl chr  X:124,361,006...124,369,867
JBrowse link
G CLIC2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,546,451...125,560,059
Ensembl chr  X:125,546,467...125,570,523
JBrowse link
G CMC4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,372,941...125,383,272
Ensembl chr  X:125,372,941...125,376,999
JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,218,928...125,228,881
Ensembl chr  X:125,218,923...125,229,525
JBrowse link
G DNASE1L1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,931,410...124,937,569
Ensembl chr  X:124,931,410...124,939,965
JBrowse link
G DUSP9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,404,852...124,414,246
Ensembl chr  X:124,409,289...124,414,212
JBrowse link
G EMD emerin ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,883,047...124,885,429
Ensembl chr  X:124,883,049...124,885,432
JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,265,330...125,350,853
Ensembl chr  X:125,229,450...125,350,853
JBrowse link
G F8A1 coagulation factor VIII-associated 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,280,978...125,282,771 JBrowse link
G FAM3A FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,015,985...125,025,119
Ensembl chr  X:125,014,714...125,025,104
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:124,967,821...124,973,487
Ensembl chr  X:124,967,510...124,973,483
JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992
JBrowse link
G FUNDC2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,354,032...125,366,029
Ensembl chr  X:125,354,021...125,372,610
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,029,150...125,041,040
JBrowse link
G GAB3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,158,148...125,209,080
Ensembl chr  X:125,158,154...125,209,035
JBrowse link
G GDI1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,960,835...124,966,833
Ensembl chr  X:124,960,990...124,966,832
JBrowse link
G H2AB1 H2A.B variant histone 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,277,575...125,280,752 JBrowse link
G HAUS7 HAUS augmin like complex subunit 7 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,234,735...124,258,133
Ensembl chr  X:124,234,736...124,258,098
JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,673,125...124,694,846
Ensembl chr  X:124,673,128...124,694,152
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:124,528,643...124,537,570
Ensembl chr  X:124,528,585...124,537,575
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:125,035,575...125,056,445
Ensembl chr  X:125,036,508...125,056,453
JBrowse link
G IL9R interleukin 9 receptor ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr 3:41,581,253...41,590,485
Ensembl chr 3:41,583,693...41,594,867
JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,717,604...124,724,855
Ensembl chr  X:124,717,612...124,724,860
JBrowse link
G L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,595,649...124,618,292
Ensembl chr  X:124,595,651...124,618,307
JBrowse link
G LAGE3 L antigen family member 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,001,673...125,003,206 JBrowse link
G LOC494564 medium-wave-sensitive opsin ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,816,014...124,828,225 JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,735,523...124,789,063
Ensembl chr  X:124,735,656...124,738,659
JBrowse link
G MPP1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,230,412...125,252,384
Ensembl chr  X:125,229,450...125,350,853
JBrowse link
G MTCP1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,372,941...125,377,910
Ensembl chr  X:125,377,350...125,381,178
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:124,658,429...124,662,744
Ensembl chr  X:124,658,158...124,662,702
JBrowse link
G PDZD4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,543,845...124,567,477
Ensembl chr  X:124,544,944...124,567,369
JBrowse link
G PLXNA3 plexin A3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,982,307...124,997,098
Ensembl chr  X:124,983,943...124,997,072
JBrowse link
G PLXNB3 plexin B3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,507,953...124,522,780
Ensembl chr  X:124,509,526...124,522,767
JBrowse link
G PNCK pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,425,867...124,430,000
Ensembl chr  X:124,425,872...124,429,261
JBrowse link
G RAB39B RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,520,764...125,528,253
Ensembl chr  X:125,520,497...125,527,379
JBrowse link
G RENBP renin binding protein ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,662,957...124,670,522
Ensembl chr  X:124,662,719...124,672,235
JBrowse link
G RPL10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,927,249...124,929,791
Ensembl chr  X:124,926,772...124,929,791
JBrowse link
G SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,010,128...125,013,992
Ensembl chr  X:125,010,131...125,011,928
JBrowse link
G SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,007,121...125,009,657
Ensembl chr  X:125,007,122...125,013,980
JBrowse link
G SLC6A8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,435,282...124,452,182
Ensembl chr  X:124,294,856...124,452,182
JBrowse link
G SMIM9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,254,737...125,262,113
Ensembl chr  X:125,255,157...125,259,938
JBrowse link
G SPRY3 sprouty RTK signaling antagonist 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,744,643...125,764,342
Ensembl chr  X:125,754,671...125,763,636
JBrowse link
G SRPK3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,524,102...124,528,607
Ensembl chr  X:124,524,083...124,528,945
JBrowse link
G SSR4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,537,545...124,541,635
Ensembl chr  X:124,537,540...124,541,637
JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,940,036...124,946,275
Ensembl chr  X:124,940,031...124,946,273
JBrowse link
G TEX28 testis expressed 28 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,828,222...124,840,093
Ensembl chr  X:124,828,225...124,834,315
JBrowse link
G TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,840,072...124,867,313
Ensembl chr  X:124,839,995...124,867,614
JBrowse link
G TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,695,050...124,699,349 JBrowse link
G TMLHE trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,601,920...125,673,716
Ensembl chr  X:125,598,116...125,673,669
JBrowse link
G TREX2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,234,736...124,244,193
Ensembl chr  X:124,234,738...124,238,598
JBrowse link
G VAMP7 vesicle associated membrane protein 7 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,863,266...125,917,232
Ensembl chr  X:125,863,292...125,917,225
JBrowse link
G VBP1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,485,357...125,506,781
Ensembl chr  X:125,480,808...125,506,771
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 chr 5:74,842,184...74,858,125
Ensembl chr 5:74,834,600...74,859,344
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 9:53,374,559...53,394,172
Ensembl chr 9:53,375,644...53,394,165
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 chr13:22,976,951...22,979,568
Ensembl chr13:22,966,137...22,983,109
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
G IL17A interleukin 17A susceptibility ISO associated with Bronchiolitis;DNA:SNP:promoter:rs2275913 (human) RGD PMID:20437253 RGD:4889139 NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
JBrowse link
G IL27 interleukin 27 ISO associated with influenza A;protein:increased expression:lung (mouse) RGD PMID:24408967 RGD:11556418 NCBI chr 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915
JBrowse link
G NFKBIA NFKB inhibitor alpha susceptibility ISO DNA:SNP: :(rs1050851) (human)
DNA:SNPs:enhancers: (rs3138053, rs2233406) (human)
RGD PMID:17463416 PMID:29407193 RGD:127285388 RGD:127285391 NCBI chr 7:64,508,119...64,510,754
Ensembl chr 7:64,507,822...64,511,277
JBrowse link
G TIRAP TIR domain containing adaptor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:17322885 NCBI chr 9:53,374,559...53,394,172
Ensembl chr 9:53,375,644...53,394,165
JBrowse link
G TLR9 toll like receptor 9 ISO RGD PMID:17004992 RGD:5130710 NCBI chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673
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 chr 3:126,795,513...126,853,995
Ensembl chr 3:126,795,426...126,853,995
JBrowse link
G AQP4 aquaporin 4 treatment ISO protein:increased expression:brain: RGD PMID:15695511 RGD:8698660 NCBI chr 6:111,407,632...111,422,169
Ensembl chr 6:111,407,639...111,422,109
JBrowse link
G ATM ATM serine/threonine kinase ameliorates ISO RGD PMID:15529270 RGD:126781748 NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,552
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:62,380,778...62,407,736
Ensembl chr  X:62,380,780...62,456,689
JBrowse link
G CYSLTR2 cysteinyl leukotriene receptor 2 ISO mRNA, protein:increased expression:brain (rat) RGD PMID:31933824 RGD:40903068 NCBI chr11:18,988,665...19,011,015
Ensembl chr11:18,987,174...19,011,015
JBrowse link
G IDO1 indoleamine 2,3-dioxygenase 1 treatment ISO RGD PMID:24844751 RGD:39939118 NCBI chr17:9,245,283...9,260,140
Ensembl chr17:9,245,196...9,260,473
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 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
JBrowse link
G LGALS3 galectin 3 ISO mRNA, protein:increased expression:brain RGD PMID:17706429 RGD:9685206 NCBI chr 1:184,478,639...184,496,155
Ensembl chr 1:184,478,710...184,497,951
JBrowse link
G LGALS9 galectin 9 ISO RGD PMID:17706429 RGD:9685206 NCBI chr12:44,155,079...44,173,634 JBrowse link
G LOC110255221 antibacterial peptide PMAP-37 ISO protein:increased expression:brain, coronal section (rat) RGD PMID:19879657 RGD:2316237 NCBI chr13:31,011,029...31,013,164 JBrowse link
G MARCO macrophage receptor with collagenous structure ISO protein:increased expression:meninges, astrocyte RGD PMID:21299846 RGD:41412190 NCBI chr15:24,502,935...24,541,286
Ensembl chr15:24,503,108...24,541,283
JBrowse link
G MMP2 matrix metallopeptidase 2 treatment ISO RGD PMID:24419461 RGD:8657111 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO protein:increased expression:cerebrospinal fluid RGD PMID:17371820 PMID:24419461 RGD:1642043 RGD:8657111 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 ISO mRNA, protein:increased expression:brain RGD PMID:25443778 RGD:9831197 NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534
JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 ISO mRNA:increased expression:brain RGD PMID:21603940 RGD:5684913 NCBI chr10:30,030,050...30,429,938
Ensembl chr10:30,033,405...30,429,882
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO protein:increased expression:brain, nucleus RGD PMID:25443778 RGD:9831197 NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469
JBrowse link
G SERPING1 serpin family G member 1 treatment ISO RGD PMID:17538891 RGD:8661645 NCBI chr 2:13,324,160...13,338,826
Ensembl chr 2:13,324,158...13,338,663
JBrowse link
G TLR2 toll like receptor 2 ISO mRNA:increased expression: : RGD PMID:12781911 RGD:7794740 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
JBrowse link
G TLR4 toll like receptor 4 ISO mRNA:increased expression: : RGD PMID:12781911 RGD:7794740 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
JBrowse link
G TLR9 toll like receptor 9 ISO mRNA:increased expression: : RGD PMID:12781911 RGD:7794740 NCBI chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673
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 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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 5:62,777,236...62,787,342
Ensembl chr 5:62,777,352...62,787,369
JBrowse link
G ALOX5 arachidonate 5-lipoxygenase ISO RGD PMID:20231413 RGD:4890435 NCBI chr14:90,859,209...90,907,084
Ensembl chr14:90,859,016...90,907,094
JBrowse link
G BTK Bruton tyrosine kinase ameliorates ISO RGD PMID:30646846 RGD:124715470 NCBI chr  X:82,981,512...83,014,475
Ensembl chr  X:82,981,515...83,014,573
JBrowse link
G C3 complement C3 disease_progression ISO protein:decreased expression:serum
associated with Liver Cirrhosis, Experimental;protein:decreased expression:respiratory system fluid/secretion
RGD PMID:20405 PMID:15972516 PMID:17956621 RGD:5129509 RGD:5129523 RGD:5130163 NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228
JBrowse link
G C5 complement C5 severity ISO RGD PMID:7814608 RGD:5130159 NCBI chr 1:260,995,662...261,088,868
Ensembl chr 1:260,995,668...261,133,483
JBrowse link
G CCL5 C-C motif chemokine ligand 5 susceptibility ISO RGD PMID:16455992 RGD:4892130 NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
JBrowse link
G CD14 CD14 molecule ISO RGD PMID:17185649 RGD:4144788 NCBI chr 2:142,348,036...142,349,686
Ensembl chr 2:142,346,360...142,349,581
JBrowse link
G CHI3L1 chitinase 3 like 1 ISO protein:increased secretion:serum (human) RGD PMID:10515841 RGD:4892626 NCBI chr 9:113,885,541...113,895,033
Ensembl chr 9:113,885,542...113,895,131
JBrowse link
G CRHR1 corticotropin releasing hormone receptor 1 ISO RGD PMID:21774994 RGD:5147472 NCBI chr12:17,251,361...17,306,308
Ensembl chr12:17,252,020...17,306,285
JBrowse link
G CRHR2 corticotropin releasing hormone receptor 2 ISO RGD PMID:21774994 RGD:5147472 NCBI chr18:42,251,755...42,296,457
Ensembl chr18:42,251,749...42,295,467
JBrowse link
G CRP C-reactive protein, pentraxin-related disease_progression ISO RGD PMID:21281676 RGD:5131293 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24894820 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 ISO protein:increased expression:lung RGD PMID:20381636 RGD:5135285 NCBI chr 8:71,665,541...71,670,236
Ensembl chr 8:71,663,501...71,670,271
JBrowse link
G DEFB1 defensin, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24894820 NCBI chr15:38,076,057...38,077,899
Ensembl chr15:38,076,057...38,077,899
JBrowse link
G HMOX1 heme oxygenase 1 ISO associated with influenza;protein:increased expression:lung RGD PMID:17348295 RGD:4145366
G HP haptoglobin ISO RGD PMID:19396720 RGD:5147385 NCBI chr 6:14,980,382...14,985,245 JBrowse link
G IL15 interleukin 15 ISO protein:increased expression:alveolar macrophage, bronchial epithelial cell RGD PMID:17611121 RGD:5000755 NCBI chr 8:85,666,963...85,740,980
Ensembl chr 8:85,667,321...85,678,461
JBrowse link
G IL15RA interleukin 15 receptor subunit alpha ISO RGD PMID:17611121 RGD:5000755 NCBI chr10:65,022,227...65,054,385 JBrowse link
G IL17A interleukin 17A ISO RGD PMID:19995896 RGD:4888531 NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
JBrowse link
G IL18 interleukin 18 ISO RGD PMID:15770015 RGD:4889960 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
JBrowse link
G IL6 interleukin 6 ISO RGD PMID:20643849 RGD:4143255 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
JBrowse link
G LEP leptin ISO RGD PMID:17822444 RGD:5128869 NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,323
JBrowse link
G LEPR leptin receptor ISO RGD PMID:21148797 RGD:5128846 NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,801,954...146,895,995
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24894820 NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,513
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24894820 NCBI chr 3:18,291,444...18,299,410
Ensembl chr 3:18,291,445...18,299,567
JBrowse link
G MASP2 MBL associated serine protease 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12904520 NCBI chr 6:71,224,637...71,243,041
Ensembl chr 6:71,224,637...71,243,874
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:12047967 PMID:18641104 RGD:4889477 RGD:4889478 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
JBrowse link
G NOS2 nitric oxide synthase 2 ISO RGD PMID:17056580 RGD:4891950 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146
JBrowse link
G PTEN phosphatase and tensin homolog ameliorates ISO myeloid knockout RGD PMID:20505137 RGD:127285597 NCBI chr14:99,929,590...100,021,619 JBrowse link
G SFTPD surfactant protein D severity ISO RGD PMID:16255775 RGD:4143519 NCBI chr14:82,051,400...82,069,258
Ensembl chr14:82,051,451...82,067,976
JBrowse link
G SIRT1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24894820 NCBI chr14:71,091,167...71,126,351
Ensembl chr14:71,091,167...71,123,297
JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 ISO RGD PMID:29263110 RGD:39128230 NCBI chr 2:141,359,402...141,367,222
Ensembl chr 2:141,358,993...141,367,198
JBrowse link
G TLR2 toll like receptor 2 ISO RGD PMID:19956717 RGD:4145321 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
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 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
JBrowse link
G TREM1 triggering receptor expressed on myeloid cells 1 ameliorates ISO RGD PMID:19596984 PMID:24752755 RGD:126928121 RGD:127229903 NCBI chr 7:36,510,253...36,531,796
Ensembl chr 7:36,510,253...36,531,796
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 8:68,326,293...68,360,262
Ensembl chr 8:68,326,299...68,360,262
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased expression:serum RGD PMID:14567831 RGD:13702910 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
JBrowse link
rheumatic heart disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD209 CD209 molecule ISO protein:increased expression:left cardiac atrium, dendritic cell (human) RGD PMID:30261069 RGD:41410815 NCBI chr 2:71,394,414...71,397,711
Ensembl chr 2:71,394,391...71,397,968
JBrowse link
G CD36 CD36 molecule ISO mRNA:decreased expression:blood, mononuclear cell RGD PMID:16741676 RGD:6893529 NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105
JBrowse link
G FCN1 ficolin (collagen/fibrinogen domain containing) 1 ISO ClinVar Annotator: match by term: Rheumatic heart disease ClinVar NCBI chr 1:274,125,666...274,132,917 JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO RGD PMID:26823728 RGD:13792679 NCBI chr 5:64,129,678...64,135,194
Ensembl chr 5:64,129,679...64,133,991
JBrowse link
G IGF1 insulin like growth factor 1 ISO RGD PMID:16406300 RGD:1582623 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033
JBrowse link
G IL10 interleukin 10 no_association ISO RGD PMID:16043936 RGD:1598626 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
JBrowse link
G MIR155 microRNA mir-155 ISO RGD PMID:31894293 RGD:151347417 NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:16406300 RGD:1582623 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
JBrowse link
G SOCS1 suppressor of cytokine signaling 1 treatment ISO RGD PMID:31894293 RGD:151347417 NCBI chr 3:31,879,143...31,883,041
Ensembl chr 3:31,881,225...31,884,967
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 chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
JBrowse link
G SELE selectin E severity ISO protein:increased expression:serum RGD PMID:22987107 RGD:13702907 NCBI chr 4:81,289,061...81,299,657 JBrowse link
G VCAM1 vascular cell adhesion molecule 1 severity ISO protein:increased expression:serum RGD PMID:22987107 RGD:13702907 NCBI chr 4:117,496,914...117,511,211
Ensembl chr 4:117,496,920...117,511,222
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 chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,552
JBrowse link
G BTK Bruton tyrosine kinase ISO RGD PMID:30873567 RGD:124715473 NCBI chr  X:82,981,512...83,014,475
Ensembl chr  X:82,981,515...83,014,573
JBrowse link
G IDO1 indoleamine 2,3-dioxygenase 1 ISO mRNA:increased expression:lung (mouse) RGD PMID:20385761 RGD:39938865 NCBI chr17:9,245,283...9,260,140
Ensembl chr17:9,245,196...9,260,473
JBrowse link
G IFNG interferon gamma ISO protein:increased expression:lung,natural killer cell (mouse) RGD PMID:21887255 RGD:40818252 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:lung,natural killer cell (mouse) RGD PMID:21887255 RGD:40818252 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
JBrowse link
G IRAK3 interleukin 1 receptor associated kinase 3 severity ISO RGD PMID:22492852 RGD:35316076 NCBI chr 5:30,524,704...30,601,067
Ensembl chr 5:30,526,793...30,609,921
JBrowse link
G ITGB2 integrin subunit beta 2 susceptibility ISO RGD PMID:11390487 RGD:127345090 NCBI chr13:207,514,281...207,544,108
Ensembl chr13:207,512,950...207,544,107
JBrowse link
G LAMP1 lysosomal associated membrane protein 1 ISO protein:increased expression:lung, natural killer cell (mouse) RGD PMID:21887255 RGD:40818252 NCBI chr11:78,600,818...78,617,587
Ensembl chr11:78,600,713...78,617,615
JBrowse link
G MARCO macrophage receptor with collagenous structure exacerbates ISO RGD PMID:15263032 RGD:41412189 NCBI chr15:24,502,935...24,541,286
Ensembl chr15:24,503,108...24,541,283
JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 severity ISO RGD PMID:21887255 RGD:40818252 NCBI chr 6:59,092,258...59,099,992
Ensembl chr 6:59,092,911...59,099,990
JBrowse link
G PDCD1 programmed cell death 1 treatment ISO RGD PMID:25624454 RGD:40818422 NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,258...140,347,478
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 6:70,026,254...70,086,950
Ensembl chr 6:70,026,373...70,084,742
JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma severity ISO RGD PMID:17322108 RGD:38599154 NCBI chr 9:106,698,200...106,748,217
Ensembl chr 9:106,698,207...106,745,099
JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 exacerbates ISO RGD PMID:33625952 RGD:127229925 NCBI chr 7:74,951,145...74,955,255
Ensembl chr 7:74,951,145...74,955,251
JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:lung,natural killer cell (mouse) RGD PMID:21887255 RGD:40818252 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14468
    disease by infectious agent 1998
      Bacterial Infections and Mycoses 913
        bacterial infectious disease 725
          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 15
              ecthyma 0
              erysipelas 0
              impetigo + 0
              rheumatic fever + 13
              scarlet fever 0
              subacute bacterial endocarditis 0
paths to the root