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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 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139
JBrowse link
G IL17A interleukin 17A ISO protein:increased expression:serum (mouse) RGD PMID:22384827 RGD:8698662 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
JBrowse link
G LCN2 lipocalin 2 ISO mRNA,protein:increased expression:respiratory epithelium, olfactory mucosa epithelium RGD PMID:16153241 RGD:126781709 NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453
JBrowse link
G MX1 MX dynamin like GTPase 1 IEP associated with pharyngitis;protein:increased expression:blood (human) RGD PMID:28077283 RGD:126777682 NCBI chr21:41,420,558...41,459,214
Ensembl chr21:41,420,020...41,470,071
JBrowse link
G TLR2 toll like receptor 2 severity ISO RGD PMID:19179417 RGD:7240559 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,070...153,706,260
JBrowse link
G TNF tumor necrosis factor ISO associated with Otitis Media RGD PMID:8302123 RGD:11554174 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755
JBrowse link
G ARHGAP4 Rho GTPase activating protein 4 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,907,378...153,926,264
Ensembl chr  X:153,907,367...153,934,999
JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,517,642...153,582,929
Ensembl chr  X:153,517,642...153,582,939
JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,428,677...154,436,516
Ensembl chr  X:154,428,633...154,436,516
JBrowse link
G ATP6AP1-DT ATP6AP1 divergent transcript IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,424,380...154,428,479
Ensembl chr  X:154,424,378...154,428,526
JBrowse link
G AVPR2 arginine vasopressin receptor 2 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,902,625...153,907,166
Ensembl chr  X:153,902,531...153,907,166
JBrowse link
G BCAP31 B cell receptor associated protein 31 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,700,492...153,724,387
Ensembl chr  X:153,700,492...153,724,565
JBrowse link
G BGN biglycan IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,494,980...153,509,546
JBrowse link
G BRCC3 BRCA1/BRCA2-containing complex subunit 3 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,071,508...155,123,077
Ensembl chr  X:155,071,420...155,123,077
JBrowse link
G CCNQ cyclin Q IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,587,925...153,599,139
Ensembl chr  X:153,587,925...153,600,045
JBrowse link
G CLIC2 chloride intracellular channel 2 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,276,211...155,334,614
Ensembl chr  X:155,276,211...155,334,657
JBrowse link
G CMC4 C-X9-C motif containing 4 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,061,622...155,071,136
Ensembl chr  X:155,061,622...155,071,136
JBrowse link
G CTAG1A cancer/testis antigen 1A IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,585,133...154,586,816
Ensembl chr  X:154,585,133...154,586,816
JBrowse link
G CTAG1B cancer/testis antigen 1B IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,617,609...154,619,282
Ensembl chr  X:154,617,609...154,619,282
JBrowse link
G CTAG2 cancer/testis antigen 2 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,651,977...154,653,579
Ensembl chr  X:154,651,972...154,653,579
JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689
JBrowse link
G DNASE1L1 deoxyribonuclease 1 like 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,401,236...154,412,101
Ensembl chr  X:154,401,236...154,412,112
JBrowse link
G DUSP9 dual specificity phosphatase 9 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,642,441...153,651,326
Ensembl chr  X:153,642,492...153,651,326
JBrowse link
G EMD emerin IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,379,295...154,381,523
Ensembl chr  X:154,379,273...154,381,574
JBrowse link
G F8 coagulation factor VIII IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940
JBrowse link
G F8A1 coagulation factor VIII associated 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,886,355...154,888,061
Ensembl chr  X:154,886,355...154,888,061
JBrowse link
G F8A2 coagulation factor VIII associated 2 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,382,095...155,383,801
Ensembl chr  X:155,382,095...155,383,801
JBrowse link
G F8A3 coagulation factor VIII associated 3 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,456,914...155,458,620
Ensembl chr  X:155,456,914...155,458,620
JBrowse link
G FAM223A family with sequence similarity 223 member A IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,571,248...154,571,960
Ensembl chr  X:154,571,248...154,571,960
JBrowse link
G FAM223B family with sequence similarity 223 member B IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,632,470...154,633,182
Ensembl chr  X:154,632,470...154,633,182
JBrowse link
G FAM3A FAM3 metabolism regulating signaling molecule A IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,506,171...154,516,232
Ensembl chr  X:154,506,159...154,516,242
JBrowse link
G FAM50A family with sequence similarity 50 member A IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,444,141...154,450,654
Ensembl chr  X:154,444,141...154,450,654
JBrowse link
G FLNA filamin A IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G FUNDC2 FUN14 domain containing 2 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,026,844...155,060,304
Ensembl chr  X:155,025,980...155,060,304
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase IAGP ClinVar Annotator: match by term: IMMUNODEFICIENCY 33, MYCOBACTERIOSIS, X-LINKED
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar PMID:25741868 NCBI chr  X:154,531,390...154,547,569
Ensembl chr  X:154,517,825...154,547,572
JBrowse link
G GAB3 GRB2 associated binding protein 3 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,675,249...154,751,566
Ensembl chr  X:154,675,249...154,751,583
JBrowse link
G GDI1 GDP dissociation inhibitor 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,437,154...154,443,467
Ensembl chr  X:154,436,913...154,443,467
JBrowse link
G H2AB1 H2A.B variant histone 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,884,972...154,885,558
Ensembl chr  X:154,884,972...154,885,558
JBrowse link
G H2AB2 H2A.B variant histone 2 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,380,709...155,381,299
Ensembl chr  X:155,380,709...155,381,299
JBrowse link
G H2AB3 H2A.B variant histone 3 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,459,415...155,460,005
Ensembl chr  X:155,459,415...155,460,005
JBrowse link
G HAUS7 HAUS augmin like complex subunit 7 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,447,668...153,495,465
Ensembl chr  X:153,447,668...153,495,516
JBrowse link
G HCFC1 host cell factor C1 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,947,557...153,971,818
Ensembl chr  X:153,947,557...153,971,818
JBrowse link
G HCFC1-AS1 HCFC1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,968,765...153,970,091
Ensembl chr  X:153,969,325...153,970,087
JBrowse link
G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,785,768...153,794,375
Ensembl chr  X:153,785,766...153,794,512
JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP ClinVar Annotator: match by term: IMMUNODEFICIENCY 33, MYCOBACTERIOSIS, X-LINKED
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
OMIM
PMID:11590134 PMID:12459250 PMID:15229184 PMID:15356572 PMID:15577852 More... NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046
JBrowse link
G IL9R interleukin 9 receptor IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,997,696...156,013,020
NCBI chr  Y:57,184,072...57,197,869
Ensembl chr  X:155,997,696...156,010,817
JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,010,507...154,019,902
Ensembl chr  X:154,010,506...154,019,902
JBrowse link
G L1CAM L1 cell adhesion molecule IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,861,514...153,886,173
Ensembl chr  X:153,861,514...153,886,173
JBrowse link
G L1CAM-AS1 L1CAM antisense RNA 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,880,672...153,888,990
Ensembl chr  X:153,880,672...153,888,990
JBrowse link
G LAGE3 L antigen family member 3 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,477,775...154,479,281
Ensembl chr  X:154,477,775...154,479,281
JBrowse link
G LOC101927830 uncharacterized LOC101927830 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,347,137...155,374,174 JBrowse link
G LOC106146143 int1h-1 recombination region IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,006,107...155,007,182 JBrowse link
G LOC106146144 int1h-2 recombination region IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,147,688...155,149,673 JBrowse link
G LOC106146150 int22h-1 recombination region IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,880,819...154,890,330 JBrowse link
G LOC106146151 int22h-2 recombination region IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,376,510...155,386,062 JBrowse link
G LOC106146152 int22h-3 recombination region IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,454,648...155,464,204 JBrowse link
G LOC107181288 origin of replication in promoter of G6PD IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,546,511...154,547,759 JBrowse link
G LOC107522039 meiotic recombination hotspot PAR2 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,764,858...155,769,660
NCBI chr  Y:56,951,378...56,956,180
JBrowse link
G LOC107838685 meiotic recombination hotspot PAR2A IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,747,397...155,751,379
NCBI chr  Y:56,933,917...56,937,899
JBrowse link
G LOC107988021 IKBKG recombination region IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,556,498...154,558,301 JBrowse link
G LOC107988022 IKBKG downstream recombination region IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,568,820...154,569,698 JBrowse link
G LOC107988024 IKBKGP1 recombination region IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,646,128...154,647,897 JBrowse link
G LOC107988025 IKBKGP1 upstream recombination region IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,634,732...154,635,610 JBrowse link
G LOC107988032 Xq28 proximal FLNA-EMD recombination region IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,335,912...154,349,572 JBrowse link
G LOC107988033 Xq28 distal FLNA-EMD recombination region IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,383,318...154,396,246 JBrowse link
G LOC108281126 G6PD and IKBKG intron CAGE-defined low expression enhancer IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,542,736...154,543,269 JBrowse link
G LOC111365170 NFE2L2 motif-containing MPRA enhancer 190/191 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,002,271...154,002,415 JBrowse link
G LOC111589209 HNF4 motif-containing MPRA enhancer 232 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,626,998...153,627,142 JBrowse link
G LOC113875014 Sharpr-MPRA regulatory region 9358 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,470,811...153,471,105 JBrowse link
G LOC113875015 Sharpr-MPRA regulatory region 12525 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,719,354...154,719,648 JBrowse link
G LOC113875016 Sharpr-MPRA regulatory region 7862 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,216,212...155,216,506 JBrowse link
G LOC116309161 CRISPRi-validated cis-regulatory element chrX.2654 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,800,709...153,800,983 JBrowse link
G LOC116309162 CRISPRi-validated cis-regulatory element chrX.2695 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,985,292...153,986,017 JBrowse link
G LOC121627985 Sharpr-MPRA regulatory region 11639 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,529,334...154,529,628 JBrowse link
G LOC121627986 Sharpr-MPRA regulatory region 3530 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,057,434...155,057,728 JBrowse link
G LOC121853071 Sharpr-MPRA regulatory region 5891 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,708,414...153,708,708 JBrowse link
G LOC121853072 Sharpr-MPRA regulatory region 3405 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,472,206...154,472,500 JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103
JBrowse link
G MIR1184-1 microRNA 1184-1 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,887,360...154,887,458
Ensembl chr  X:154,887,360...154,887,458
JBrowse link
G MIR1184-2 microRNA 1184-2 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,383,100...155,383,198
Ensembl chr  X:155,383,100...155,383,198
JBrowse link
G MIR1184-3 microRNA 1184-3 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,457,517...155,457,615
Ensembl chr  X:155,457,517...155,457,615
JBrowse link
G MIR3202-1 microRNA 3202-1 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,981,097...153,981,177
Ensembl chr  X:153,981,097...153,981,177
JBrowse link
G MIR3202-2 microRNA 3202-2 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,981,098...153,981,176
Ensembl chr  X:153,981,098...153,981,176
JBrowse link
G MIR664B microRNA 664b IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,768,596...154,768,656
Ensembl chr  X:154,768,596...154,768,656
JBrowse link
G MIR6858 microRNA 6858 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,450,320...154,450,386
Ensembl chr  X:154,450,320...154,450,386
JBrowse link
G MIR718 microRNA 718 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,019,920...154,019,989
Ensembl chr  X:154,019,920...154,019,989
JBrowse link
G MPP1 MAGUK p55 scaffold protein 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,778,684...154,805,485
Ensembl chr  X:154,778,684...154,821,007
JBrowse link
G MRFAP1P1 MRFAP1 pseudogene 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,599,340...153,599,893
Ensembl chr  X:153,599,315...153,613,937
JBrowse link
G MTCP1 mature T cell proliferation 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,064,034...155,071,136
Ensembl chr  X:155,064,034...155,147,937
JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080
JBrowse link
G OPN1LW opsin 1, long wave sensitive IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,144,243...154,159,032
Ensembl chr  X:154,144,243...154,159,032
JBrowse link
G OPN1MW opsin 1, medium wave sensitive IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,182,596...154,196,861
Ensembl chr  X:154,182,596...154,196,861
JBrowse link
G OPN1MW2 opsin 1, medium wave sensitive 2 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,219,756...154,233,286
Ensembl chr  X:154,219,756...154,233,286
JBrowse link
G OPN1MW3 opsin 1, medium wave sensitive 3 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,257,582...154,271,090
Ensembl chr  X:154,257,582...154,271,090
JBrowse link
G OPSIN-LCR opsin locus control region IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,137,727...154,144,286 JBrowse link
G PDZD4 PDZ domain containing 4 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,802,166...153,830,544
Ensembl chr  X:153,802,166...153,830,565
JBrowse link
G PLXNA3 plexin A3 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,458,281...154,477,779
Ensembl chr  X:154,458,281...154,477,779
JBrowse link
G PLXNB3 plexin B3 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,764,249...153,779,341
Ensembl chr  X:153,764,196...153,779,346
JBrowse link
G PLXNB3-AS1 PLXNB3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,758,067...153,766,526 JBrowse link
G PNCK pregnancy up-regulated nonubiquitous CaM kinase IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,669,733...153,687,771
Ensembl chr  X:153,669,733...153,689,010
JBrowse link
G RAB39B RAB39B, member RAS oncogene family IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,258,235...155,264,491
Ensembl chr  X:155,258,235...155,264,491
JBrowse link
G RENBP renin binding protein IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,935,269...153,944,643
Ensembl chr  X:153,935,269...153,944,687
JBrowse link
G RPL10 ribosomal protein L10 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,398,065...154,402,339
Ensembl chr  X:154,389,955...154,409,168
JBrowse link
G SLC10A3 solute carrier family 10 member 3 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,487,311...154,490,629
Ensembl chr  X:154,487,306...154,490,690
JBrowse link
G SLC6A8 solute carrier family 6 member 8 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,687,926...153,696,593
Ensembl chr  X:153,687,926...153,696,588
JBrowse link
G SMIM9 small integral membrane protein 9 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,823,348...154,834,662
Ensembl chr  X:154,823,348...154,834,662
JBrowse link
G SNORA36A small nucleolar RNA, H/ACA box 36A IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,768,528...154,768,659
Ensembl chr  X:154,768,528...154,768,659
JBrowse link
G SNORA56 small nucleolar RNA, H/ACA box 56 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,774,998...154,775,126
Ensembl chr  X:154,774,998...154,775,126
JBrowse link
G SNORA70 small nucleolar RNA, H/ACA box 70 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,400,281...154,400,415
Ensembl chr  X:154,400,281...154,400,415
JBrowse link
G SPRY3 sprouty RTK signaling antagonist 3 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,612,586...155,782,459
NCBI chr  Y:56,954,316...56,968,979
Ensembl chr  X:155,612,572...155,782,459
JBrowse link
G SRPK3 SRSF protein kinase 3 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,781,041...153,785,730
Ensembl chr  X:153,776,412...153,785,732
JBrowse link
G SSR4 signal sequence receptor subunit 4 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,794,159...153,798,512
Ensembl chr  X:153,793,516...153,798,499
JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,411,539...154,421,726
Ensembl chr  X:154,411,524...154,421,726
JBrowse link
G TEX28 testis expressed 28 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,271,265...154,295,211
Ensembl chr  X:154,271,265...154,295,853
JBrowse link
G TKTL1 transketolase like 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,295,795...154,330,350
Ensembl chr  X:154,295,795...154,330,350
JBrowse link
G TMEM187 transmembrane protein 187 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,972,754...153,983,194
Ensembl chr  X:153,972,754...153,983,194
JBrowse link
G TMLHE trimethyllysine hydroxylase, epsilon IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,489,011...155,612,952
Ensembl chr  X:155,489,011...155,719,098
JBrowse link
G TMLHE-AS1 TMLHE antisense RNA 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,466,540...155,494,110
Ensembl chr  X:155,466,540...155,611,616
JBrowse link
G TREX2 three prime repair exonuclease 2 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,444,473...153,446,056
Ensembl chr  X:153,444,473...153,470,587
JBrowse link
G UBL4A ubiquitin like 4A IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,483,717...154,486,615
Ensembl chr  X:154,483,717...154,486,615
JBrowse link
G VAMP7 vesicle associated membrane protein 7 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,881,345...155,943,769
NCBI chr  Y:57,067,865...57,130,289
Ensembl chr  X:155,881,345...155,943,769
JBrowse link
G VBP1 VHL binding protein 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,197,007...155,239,841
Ensembl chr  X:155,197,007...155,239,841
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 IAGP ClinVar Annotator: match by term: IRAK4 deficiency
ClinVar Annotator: match by term: Immunodeficiency 67
ClinVar Annotator: match by term: Invasive pneumococcal disease, recurrent isolated
ClinVar Annotator: match by term: IMMUNODEFICIENCY 67
ClinVar
OMIM
PMID:9536098 PMID:9789052 PMID:12637671 PMID:12925671 PMID:15520784 More... NCBI chr12:43,758,951...43,789,541
Ensembl chr12:43,758,944...43,798,307
JBrowse link
G TIRAP TIR domain containing adaptor protein IAGP ClinVar Annotator: match by term: Invasive pneumococcal disease, protection against ClinVar PMID:16991088 PMID:17322885 PMID:18305471 NCBI chr11:126,283,093...126,294,933
Ensembl chr11:126,282,497...126,298,845
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 IAGP ClinVar Annotator: match by term: Myd88 deficiency
ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY
ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:18669862 PMID:20538326 PMID:21179087 More... NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,478...38,143,024
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
IDA
RGD PMID:26802141 PMID:26802141 RGD:108019050, RGD:108019050 NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476
JBrowse link
G IL17A interleukin 17A susceptibility IAGP associated with Bronchiolitis;DNA:SNP:promoter:rs2275913 (human) RGD PMID:20437253 RGD:4889139 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
JBrowse link
G IL27 interleukin 27 ISO associated with influenza A;protein:increased expression:lung (mouse) RGD PMID:24408967 RGD:11556418 NCBI chr16:28,499,362...28,506,834
Ensembl chr16:28,499,362...28,512,051
JBrowse link
G NFKBIA NFKB inhibitor alpha susceptibility IAGP DNA:SNPs:enhancers: (rs3138053, rs2233406) (human)
DNA:SNP: :(rs1050851) (human)
RGD PMID:17463416 PMID:29407193 RGD:127285388, RGD:127285391 NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749
JBrowse link
G TIRAP TIR domain containing adaptor protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:17322885 NCBI chr11:126,283,093...126,294,933
Ensembl chr11:126,282,497...126,298,845
JBrowse link
G TLR9 toll like receptor 9 ISO RGD PMID:17004992 RGD:5130710 NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
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 2:9,488,486...9,555,830
Ensembl chr 2:9,488,486...9,556,732
JBrowse link
G AQP4 aquaporin 4 treatment ISO protein:increased expression:brain: RGD PMID:15695511 PMID:15695511 RGD:8698660, RGD:8698660 NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771
JBrowse link
G ATM ATM serine/threonine kinase ameliorates ISO RGD PMID:15529270 RGD:126781748 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,223,044...108,369,102
JBrowse link
G CAMP cathelicidin antimicrobial peptide ISO protein:increased expression:brain, coronal section (rat) RGD PMID:19879657 RGD:2316237 NCBI chr 3:48,223,495...48,225,485
Ensembl chr 3:48,223,347...48,225,491
JBrowse link
G CXCL1 C-X-C motif chemokine ligand 1 ISO RGD PMID:21109308 RGD:5134982 NCBI chr 4:73,869,393...73,871,308
Ensembl chr 4:73,869,393...73,871,308
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:78,271,468...78,327,611
Ensembl chr  X:78,271,468...78,327,691
JBrowse link
G CYSLTR2 cysteinyl leukotriene receptor 2 ISO mRNA, protein:increased expression:brain (rat) RGD PMID:31933824 RGD:40903068 NCBI chr13:48,653,929...48,711,226
Ensembl chr13:48,653,711...48,711,226
JBrowse link
G IDO1 indoleamine 2,3-dioxygenase 1 treatment ISO RGD PMID:24844751 RGD:39939118 NCBI chr 8:39,913,891...39,928,790
Ensembl chr 8:39,902,275...39,928,790
JBrowse link
G IL6 interleukin 6 treatment ISO protein:increased expression:brain RGD PMID:25443778 PMID:8943431 PMID:11581077 RGD:9831197, RGD:11062107, RGD:11060264 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G LGALS3 galectin 3 ISO mRNA, protein:increased expression:brain RGD PMID:17706429 RGD:9685206 NCBI chr14:55,129,252...55,145,430
Ensembl chr14:55,124,110...55,145,423
JBrowse link
G LGALS9 galectin 9 ISO RGD PMID:17706429 RGD:9685206 NCBI chr17:27,631,188...27,649,560
Ensembl chr17:27,629,798...27,649,560
JBrowse link
G MARCO macrophage receptor with collagenous structure ISO protein:increased expression:meninges, astrocyte RGD PMID:21299846 RGD:41412190 NCBI chr 2:118,942,194...118,994,660
Ensembl chr 2:118,942,194...118,994,660
JBrowse link
G MMP2 matrix metallopeptidase 2 treatment ISO RGD PMID:24419461 RGD:8657111 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO protein:increased expression:cerebrospinal fluid RGD PMID:17371820 PMID:24419461 RGD:1642043, RGD:8657111 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 ISO mRNA, protein:increased expression:brain RGD PMID:25443778 RGD:9831197 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 ISO mRNA:increased expression:brain RGD PMID:21603940 RGD:5684913 NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO protein:increased expression:brain, nucleus RGD PMID:25443778 RGD:9831197 NCBI chr11:65,653,601...65,662,916
Ensembl chr11:65,653,599...65,663,090
JBrowse link
G SERPING1 serpin family G member 1 treatment IDA RGD PMID:17538891 RGD:8661645 NCBI chr11:57,597,685...57,614,848
Ensembl chr11:57,597,387...57,619,171
JBrowse link
G TLR2 toll like receptor 2 ISO mRNA:increased expression: : RGD PMID:12781911 RGD:7794740 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,070...153,706,260
JBrowse link
G TLR4 toll like receptor 4 ISO mRNA:increased expression: : RGD PMID:12781911 RGD:7794740 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
G TLR9 toll like receptor 9 ISO mRNA:increased expression: : RGD PMID:12781911 RGD:7794740 NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
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:9831197, RGD:40903068 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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 chr12:8,602,170...8,612,859
Ensembl chr12:8,602,155...8,613,242
JBrowse link
G ALOX5 arachidonate 5-lipoxygenase ISO RGD PMID:20231413 RGD:4890435 NCBI chr10:45,374,216...45,446,117
Ensembl chr10:45,374,176...45,446,119
JBrowse link
G BTK Bruton tyrosine kinase ameliorates ISO RGD PMID:30646846 RGD:124715470 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796
JBrowse link
G C3 complement C3 disease_progression ISO
IEP
associated with Liver Cirrhosis, Experimental;protein:decreased expression:respiratory system fluid/secretion
protein:decreased expression:serum
RGD PMID:17956621 PMID:15972516 PMID:20405 RGD:5129523, RGD:5129509, RGD:5130163 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
JBrowse link
G C5 complement C5 severity ISO RGD PMID:7814608 RGD:5130159 NCBI chr 9:120,952,335...121,074,865
Ensembl chr 9:120,932,987...121,075,195
JBrowse link
G CCL5 C-C motif chemokine ligand 5 susceptibility ISO RGD PMID:16455992 RGD:4892130 NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
JBrowse link
G CD14 CD14 molecule ISO RGD PMID:17185649 RGD:4144788 NCBI chr 5:140,631,732...140,633,701
Ensembl chr 5:140,631,728...140,633,700
JBrowse link
G CHI3L1 chitinase 3 like 1 IEP protein:increased secretion:serum (human) RGD PMID:10515841 RGD:4892626 NCBI chr 1:203,178,931...203,186,704
Ensembl chr 1:203,178,931...203,186,704
JBrowse link
G CRHR1 corticotropin releasing hormone receptor 1 ISO RGD PMID:21774994 RGD:5147472 NCBI chr17:45,784,320...45,835,828
Ensembl chr17:45,784,280...45,835,828
JBrowse link
G CRHR2 corticotropin releasing hormone receptor 2 ISO RGD PMID:21774994 RGD:5147472 NCBI chr 7:30,651,942...30,700,103
Ensembl chr 7:30,651,942...30,700,129
JBrowse link
G CRP C-reactive protein disease_progression IEP RGD PMID:21281676 RGD:5131293 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
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 4:73,869,393...73,871,308
Ensembl chr 4:73,869,393...73,871,308
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24894820 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 ISO protein:increased expression:lung RGD PMID:20381636 RGD:5135285 NCBI chr 4:76,001,275...76,007,509
Ensembl chr 4:76,001,275...76,007,509
JBrowse link
G DEFB4A defensin beta 4A EXP CTD Direct Evidence: marker/mechanism CTD PMID:24894820 NCBI chr 8:7,894,677...7,896,716
Ensembl chr 8:7,894,677...7,896,716
Ensembl chr 8:7,894,677...7,896,716
JBrowse link
G HMOX1 heme oxygenase 1 ISO associated with influenza;protein:increased expression:lung RGD PMID:17348295 RGD:4145366 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
JBrowse link
G HP haptoglobin IEP RGD PMID:19396720 RGD:5147385 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
JBrowse link
G IL15 interleukin 15 ISO protein:increased expression:alveolar macrophage, bronchial epithelial cell RGD PMID:17611121 RGD:5000755 NCBI chr 4:141,636,583...141,733,987
Ensembl chr 4:141,636,583...141,733,987
JBrowse link
G IL15RA interleukin 15 receptor subunit alpha ISO RGD PMID:17611121 RGD:5000755 NCBI chr10:5,948,900...5,978,741
Ensembl chr10:5,943,639...5,978,187
JBrowse link
G IL17A interleukin 17A ISO RGD PMID:19995896 RGD:4888531 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
JBrowse link
G IL18 interleukin 18 ISO RGD PMID:15770015 RGD:4889960 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
JBrowse link
G IL6 interleukin 6 ISO RGD PMID:20643849 RGD:4143255 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G LEP leptin ISO RGD PMID:17822444 RGD:5128869 NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
JBrowse link
G LEPR leptin receptor ISO RGD PMID:21148797 RGD:5128846 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24894820 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24894820 NCBI chr16:30,114,105...30,123,220
Ensembl chr16:30,114,105...30,123,506
JBrowse link
G MASP2 MBL associated serine protease 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12904520 NCBI chr 1:11,026,523...11,047,239
Ensembl chr 1:11,022,009...11,047,239
JBrowse link
G MBL2 mannose binding lectin 2 no_association IAGP DNA:polymorphisms:5' utr, exon:multiple (human)
DNA:mutations:5' utr, exon:multiple (human)
RGD PMID:12047967 PMID:18641104 RGD:4889478, RGD:4889477 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
JBrowse link
G NOS2 nitric oxide synthase 2 ISO RGD PMID:17056580 RGD:4891950 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
JBrowse link
G PTEN phosphatase and tensin homolog ameliorates ISO myeloid knockout RGD PMID:20505137 RGD:127285597 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G SFTPD surfactant protein D severity ISO RGD PMID:16255775 RGD:4143519 NCBI chr10:79,937,740...79,982,383
Ensembl chr10:79,937,467...79,982,614
JBrowse link
G SIRT1 sirtuin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24894820 NCBI chr10:67,884,656...67,918,390
Ensembl chr10:67,884,656...67,918,390
JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 ISO RGD PMID:29263110 RGD:39128230 NCBI chr 5:139,475,533...139,482,758
Ensembl chr 5:139,475,533...139,482,935
JBrowse link
G TLR2 toll like receptor 2 ISO RGD PMID:19956717 RGD:4145321 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,070...153,706,260
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 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TREM1 triggering receptor expressed on myeloid cells 1 ameliorates ISO RGD PMID:24752755 PMID:19596984 RGD:126928121, RGD:127229903 NCBI chr 6:41,267,385...41,286,682
Ensembl chr 6:41,267,926...41,286,682
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 IAGP RGD PMID:2737695 RGD:5509933 NCBI chr 4:71,741,693...71,805,520
Ensembl chr 4:71,741,696...71,804,041
JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP DNA:polymorphisms, haplotypes:multiple
DNA:polymorphism: :HLA-DQA1*03 (human)
RGD PMID:17559688 PMID:15789899 RGD:5147792, RGD:127285392 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP DNA:polymorphisms, haplotypes:multiple RGD PMID:17559688 RGD:5147792 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP DNA:polymorphisms, haplotypes:multiple RGD PMID:17559688 RGD:5147792 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G ICAM1 intercellular adhesion molecule 1 IEP protein:increased expression:serum RGD PMID:14567831 RGD:13702910 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
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 IEP protein:increased expression:left cardiac atrium, dendritic cell (human) RGD PMID:30261069 RGD:41410815 NCBI chr19:7,739,993...7,747,534
Ensembl chr19:7,739,993...7,747,564
JBrowse link
G CD36 CD36 molecule IEP mRNA:decreased expression:blood, mononuclear cell RGD PMID:16741676 RGD:6893529 NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277
JBrowse link
G FCN3 ficolin 3 IAGP ClinVar Annotator: match by term: Rheumatic heart disease ClinVar NCBI chr 1:27,369,110...27,374,824
Ensembl chr 1:27,369,110...27,374,824
JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO RGD PMID:26823728 RGD:13792679 NCBI chr12:6,534,517...6,538,371
Ensembl chr12:6,534,512...6,538,374
JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP DNA:polymorphisms, haplotypes:multiple
DNA:polymorphism, haplotype: :HLA-DQA1*0101, HLA-DQA1*0103, HLA-DQA1*0301 (human)
RGD PMID:17559688 PMID:29029143 RGD:5147792, RGD:126925989 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP DNA:polymorphisms:cds:HLA-DQB1*08 (human) RGD PMID:17578051 RGD:5147630 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP DNA:polymorphism (human)
DNA:polymorphism:cds:HLA-DRB1*13 (human)
RGD PMID:17578051 PMID:16426242 RGD:5147630, RGD:5147643 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G IGF1 insulin like growth factor 1 IEP RGD PMID:16406300 RGD:1582623 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744
JBrowse link
G IL10 interleukin 10 no_association IAGP RGD PMID:16043936 RGD:1598626 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G MIR155 microRNA 155 ISO RGD PMID:31894293 RGD:151347417 NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
JBrowse link
G MMP9 matrix metallopeptidase 9 IEP RGD PMID:16406300 RGD:1582623 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G SOCS1 suppressor of cytokine signaling 1 treatment ISO RGD PMID:31894293 RGD:151347417 NCBI chr16:11,254,417...11,256,204
Ensembl chr16:11,254,417...11,256,204
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 IEP protein:increased expression:serum RGD PMID:22987107 RGD:13702907 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
JBrowse link
G SELE selectin E severity IEP protein:increased expression:serum RGD PMID:22987107 RGD:13702907 NCBI chr 1:169,722,640...169,734,079
Ensembl chr 1:169,722,640...169,764,705
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 severity IEP protein:increased expression:serum RGD PMID:22987107 RGD:13702907 NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045
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 chr11:108,223,067...108,369,102
Ensembl chr11:108,223,044...108,369,102
JBrowse link
G BTK Bruton tyrosine kinase ISO RGD PMID:30873567 RGD:124715473 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796
JBrowse link
G CLEC4M C-type lectin domain family 4 member M severity ISO RGD PMID:16134084 RGD:39938986 NCBI chr19:7,763,243...7,769,605
Ensembl chr19:7,763,210...7,769,605
JBrowse link
G IDO1 indoleamine 2,3-dioxygenase 1 ISO mRNA:increased expression:lung (mouse) RGD PMID:20385761 RGD:39938865 NCBI chr 8:39,913,891...39,928,790
Ensembl chr 8:39,902,275...39,928,790
JBrowse link
G IFNG interferon gamma ISO protein:increased expression:lung,natural killer cell (mouse) RGD PMID:21887255 RGD:40818252 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:lung,natural killer cell (mouse) RGD PMID:21887255 RGD:40818252 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G IRAK3 interleukin 1 receptor associated kinase 3 severity ISO RGD PMID:22492852 RGD:35316076 NCBI chr12:66,189,214...66,254,622
Ensembl chr12:66,189,195...66,254,622
JBrowse link
G ITGB2 integrin subunit beta 2 susceptibility ISO RGD PMID:11390487 RGD:127345090 NCBI chr21:44,885,953...44,928,815
Ensembl chr21:44,885,953...44,931,989
JBrowse link
G LAMP1 lysosomal associated membrane protein 1 ISO protein:increased expression:lung, natural killer cell (mouse) RGD PMID:21887255 RGD:40818252 NCBI chr13:113,297,239...113,323,672
Ensembl chr13:113,297,239...113,323,672
JBrowse link
G MARCO macrophage receptor with collagenous structure exacerbates ISO RGD PMID:15263032 RGD:41412189 NCBI chr 2:118,942,194...118,994,660
Ensembl chr 2:118,942,194...118,994,660
JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 severity ISO RGD PMID:21887255 RGD:40818252 NCBI chr19:54,898,198...54,938,208
Ensembl chr19:54,906,148...54,916,140
JBrowse link
G PDCD1 programmed cell death 1 treatment ISO RGD PMID:25624454 RGD:40818422 NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894
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 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114
JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma severity ISO RGD PMID:17322108 RGD:38599154 NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980
JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 exacerbates ISO RGD PMID:33625952 RGD:127229925 NCBI chr14:24,336,025...24,339,991
Ensembl chr14:24,336,025...24,340,022
JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:lung,natural killer cell (mouse) RGD PMID:21887255 RGD:40818252 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 22116
    disease by infectious agent 2524
      Bacterial Infections and Mycoses 1051
        bacterial infectious disease 843
          Gram-Positive Bacterial Infections 437
            Streptococcal Infections 205
              Immune Suppression 0
              Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections 0
              Pneumococcal Infections + 177
              Streptococcus pneumonia 16
              ecthyma 0
              erysipelas 0
              impetigo + 0
              rheumatic fever + 16
              scarlet fever 0
              subacute bacterial endocarditis 0
paths to the root