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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:Gram-Positive Bacterial Infections
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Accession:DOID:9002823 term browser browse the term
Definition:Infections caused by bacteria that retain the crystal violet stain (positive) when treated by the gram-staining method.
Synonyms:exact_synonym: Gram-Positive Bacterial Infection
 narrow_synonym: Enterococcus faecalis infection
 primary_id: MESH:D016908
 xref: EFO:0000780



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Gram-Positive Bacterial Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ear1 eosinophil-associated, ribonuclease A family, member 1 ISO CTD Direct Evidence: therapeutic CTD PMID:21696142 NCBI chr14:44,056,222...44,057,096
Ensembl chr14:44,056,222...44,112,974
JBrowse link
G Icos inducible T cell co-stimulator IDA RGD PMID:12421962 RGD:1624276 NCBI chr 1:60,999,909...61,039,481
Ensembl chr 1:61,017,086...61,039,479
JBrowse link
G Tlr2 toll-like receptor 2 IMP RGD PMID:18354210 RGD:7240560 NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
JBrowse link
anthrax disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr2 anthrax toxin receptor 2 ISO RGD PMID:17054395 RGD:1599126 NCBI chr 5:98,032,547...98,178,876
Ensembl chr 5:98,030,642...98,178,902
JBrowse link
G Elane elastase, neutrophil expressed IEP protein:increased expression:plasma: RGD PMID:19049643 RGD:10450550 NCBI chr10:79,722,146...79,724,050
Ensembl chr10:79,722,081...79,724,049
JBrowse link
G Il1b interleukin 1 beta disease_progression IEP mRNA:decreased expression:multiple (mouse) RGD PMID:19075243 RGD:40902812 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
JBrowse link
G Rnasel ribonuclease L (2', 5'-oligoisoadenylate synthetase-dependent) severity IMP RGD PMID:19075243 RGD:40902812 NCBI chr 1:153,625,089...153,644,441
Ensembl chr 1:153,625,172...153,639,967
JBrowse link
G Tnf tumor necrosis factor disease_progression IEP protein:decreased expression:multiple (mouse) RGD PMID:19075243 RGD:40902812 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
JBrowse link
Bovine Tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il23a interleukin 23, alpha subunit p19 IMP RGD PMID:16923792 RGD:39457937 NCBI chr10:128,132,009...128,133,953
Ensembl chr10:128,132,008...128,134,621
JBrowse link
G Il4 interleukin 4 ISO CTD Direct Evidence: therapeutic CTD PMID:17387165 NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
JBrowse link
Buruli ulcer disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc11a1 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 susceptibility ISO ClinVar Annotator: match by term: Buruli ulcer, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:16395392 NCBI chr 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221
JBrowse link
Clostridium difficile colitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il23a interleukin 23, alpha subunit p19 severity IMP RGD PMID:26455347 RGD:11097134 NCBI chr10:128,132,009...128,133,953
Ensembl chr10:128,132,008...128,134,621
JBrowse link
G Il33 interleukin 33 treatment
severity
IEP
IMP
RGD PMID:32156806 PMID:32156806 RGD:40400894, RGD:40400894 NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118
JBrowse link
Clostridium Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il27 interleukin 27 ISO associated with diarrhea;protein:increased expression:blood��serum, feces (human) RGD PMID:29140433 RGD:126790495 NCBI chr 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113
JBrowse link
G Marco macrophage receptor with collagenous structure exacerbates IMP RGD PMID:20810988 RGD:41412193 NCBI chr 1:120,402,267...120,432,753
Ensembl chr 1:120,402,267...120,432,753
JBrowse link
eumycotic mycetoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Comt catechol-O-methyltransferase severity ISO DNA:missense mutation:cds: (rs4680) (human) RGD PMID:20184498 RGD:8662334 NCBI chr16:18,225,632...18,247,006
Ensembl chr16:18,225,636...18,245,602
JBrowse link
G Cxcl15 C-X-C motif chemokine ligand 15 ISO DNA:SNP:promoter:g.-251T>A (human) RGD PMID:17709521 RGD:150523787 NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
JBrowse link
G Tlr2 toll-like receptor 2 IEP mRNA:increased expression:footpad: RGD PMID:21205004 RGD:7794752 NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
JBrowse link
G Tlr4 toll-like receptor 4 IEP mRNA:decreased expression:footpad: RGD PMID:21205004 RGD:7794752 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
JBrowse link
extrapulmonary tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd209b CD209b antigen susceptibility ISO DNA:repeats:exon 4: allele 6, allele 9 (human) RGD PMID:24874302 RGD:39938981 NCBI chr 8:3,967,655...3,976,841
Ensembl chr 8:3,967,655...3,976,844
JBrowse link
G Cxcl15 C-X-C motif chemokine ligand 15 ISO protein:increased expression:serum (human) RGD PMID:16001981 RGD:39939055 NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
JBrowse link
G Ereg epiregulin susceptibility ISO DNA:SNP:exon 4: (rs2367707) (human) RGD PMID:30634928 RGD:39457687 NCBI chr 5:91,222,476...91,241,508
Ensembl chr 5:91,222,481...91,241,505
JBrowse link
gas gangrene term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsn gelsolin ISO protein:decreased expression:blood serum (human) RGD PMID:9142022 RGD:329333022 NCBI chr 2:35,146,371...35,197,914
Ensembl chr 2:35,146,392...35,197,904
JBrowse link
Immunodeficiency 107 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otulin OTU deubiquitinase with linear linkage specificity ISO ClinVar Annotator: match by term: Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection ClinVar
OMIM
PMID:25741868 PMID:27559085 PMID:28492532 PMID:35587511 NCBI chr15:27,606,005...27,630,793
Ensembl chr15:27,542,721...27,630,779
JBrowse link
Immunodeficiency 117 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irf1 interferon regulatory factor 1 ISO ClinVar Annotator: match by term: Immunodeficiency 117 OMIM
ClinVar
NCBI chr11:53,660,841...53,669,200
Ensembl chr11:53,660,841...53,669,200
JBrowse link
immunodeficiency 27A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bclaf1 BCL2-associated transcription factor 1 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr10:20,187,897...20,218,390
Ensembl chr10:20,188,215...20,220,359
JBrowse link
G Ifngr1 interferon gamma receptor 1 susceptibility ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar
OMIM
PMID:8960473 PMID:8960475 PMID:9142806 PMID:9389728 PMID:9497247 More... NCBI chr10:19,467,697...19,485,977
Ensembl chr10:19,467,697...19,485,977
JBrowse link
G Ifngr2 interferon gamma receptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr16:91,343,947...91,360,895
Ensembl chr16:91,343,960...91,362,511
JBrowse link
G Il12rb1 interleukin 12 receptor, beta 1 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:19460324 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 8:71,261,005...71,276,186
Ensembl chr 8:71,261,093...71,274,068
JBrowse link
G Il20ra interleukin 20 receptor, alpha ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr10:19,587,421...19,635,801
Ensembl chr10:19,588,318...19,635,801
JBrowse link
G Il22ra2 interleukin 22 receptor, alpha 2 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr10:19,497,776...19,510,429
Ensembl chr10:19,497,746...19,510,429
JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr10:19,809,847...20,018,496
Ensembl chr10:19,810,218...20,018,499
JBrowse link
G Map7 microtubule-associated protein 7 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr10:20,024,666...20,157,336
Ensembl chr10:20,024,217...20,157,336
JBrowse link
G Mtfr2 mitochondrial fission regulator 2 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr10:20,223,491...20,237,415
Ensembl chr10:20,223,516...20,237,050
JBrowse link
G Pde7b phosphodiesterase 7B ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr10:20,272,798...20,600,824
Ensembl chr10:20,273,750...20,600,824
JBrowse link
G Pex7 peroxisomal biogenesis factor 7 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr10:19,735,836...19,783,420
Ensembl chr10:19,729,646...19,783,435
JBrowse link
G Slc35d3 solute carrier family 35, member D3 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr10:19,723,662...19,728,195
Ensembl chr10:19,723,662...19,727,205
JBrowse link
immunodeficiency 31B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1700019D03Rik RIKEN cDNA 1700019D03 gene ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 1:52,961,483...53,031,816
Ensembl chr 1:52,961,483...53,059,338
JBrowse link
G Ankar ankyrin and armadillo repeat containing ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 1:72,682,139...72,739,743
Ensembl chr 1:72,682,139...72,739,738
JBrowse link
G Asnsd1 asparagine synthetase domain containing 1 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 1:53,383,776...53,391,911
Ensembl chr 1:53,383,776...53,391,911
Ensembl chr 1:53,383,776...53,391,911
JBrowse link
G Col3a1 collagen, type III, alpha 1 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 1:45,350,698...45,388,866
Ensembl chr 1:45,350,698...45,388,866
JBrowse link
G Col5a2 collagen, type V, alpha 2 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 1:45,413,491...45,542,442
Ensembl chr 1:45,413,481...45,542,442
JBrowse link
G Gls glutaminase ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 1:52,202,608...52,274,168
Ensembl chr 1:52,202,607...52,272,391
JBrowse link
G Hibch 3-hydroxyisobutyryl-Coenzyme A hydrolase ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 1:52,884,197...52,960,145
Ensembl chr 1:52,884,088...52,960,145
JBrowse link
G Inpp1 inositol polyphosphate-1-phosphatase ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 1:52,824,584...52,856,847
Ensembl chr 1:52,824,586...52,856,847
JBrowse link
G Mfsd6 major facilitator superfamily domain containing 6 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 1:52,695,463...52,766,495
Ensembl chr 1:52,695,445...52,766,621
JBrowse link
G Mstn myostatin ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 1:53,100,799...53,107,238
Ensembl chr 1:53,100,799...53,107,238
JBrowse link
G Nab1 Ngfi-A binding protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 1:52,494,146...52,539,553
Ensembl chr 1:52,496,453...52,539,838
JBrowse link
G Nemp2 nuclear envelope integral membrane protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 1:52,669,850...52,691,078
Ensembl chr 1:52,669,862...52,691,078
JBrowse link
G Ormdl1 ORM1-like 1 (S. cerevisiae) ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 1:53,336,254...53,349,404
Ensembl chr 1:53,336,254...53,349,468
JBrowse link
G Osgepl1 O-sialoglycoprotein endopeptidase-like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 1:53,352,070...53,365,502
Ensembl chr 1:53,352,783...53,365,502
JBrowse link
G Pms1 postmeiotic segregation increased 1 (S. cerevisiae) ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 1:53,225,794...53,336,190
Ensembl chr 1:53,228,346...53,336,177
JBrowse link
G Slc40a1 solute carrier family 40 (iron-regulated transporter), member 1 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 1:45,947,230...45,965,690
Ensembl chr 1:45,947,228...45,965,683
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Immunodeficiency 31B | ClinVar Annotator: match by term: Mycobacterial and viral infections, susceptibility to, autosomal recessive OMIM
ClinVar
PMID:9536098 PMID:12590259 PMID:16199547 PMID:16585605 PMID:17576681 More... NCBI chr 1:52,158,588...52,201,024
Ensembl chr 1:52,158,599...52,201,024
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:22651901 PMID:28492532 NCBI chr 1:52,026,265...52,146,348
Ensembl chr 1:52,026,307...52,146,348
JBrowse link
G Wdr75 WD repeat domain 75 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 1:45,834,313...45,862,798
Ensembl chr 1:45,834,326...45,862,779
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, sub-family D member 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:72,760,203...72,782,140
Ensembl chr  X:72,760,203...72,782,140
JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:72,937,958...72,954,945
Ensembl chr  X:72,935,048...72,965,476
JBrowse link
G Atp2b3 ATPase, Ca++ transporting, plasma membrane 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:72,546,356...72,632,267
Ensembl chr  X:72,546,692...72,614,611
JBrowse link
G Atp6ap1 ATPase, H+ transporting, lysosomal accessory protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,340,753...73,348,297
Ensembl chr  X:73,340,703...73,348,327
JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:72,935,371...72,938,034
Ensembl chr  X:72,935,708...72,939,108
JBrowse link
G Bcap31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:72,729,784...72,761,464
Ensembl chr  X:72,729,784...72,759,781
JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:72,527,207...72,539,542
Ensembl chr  X:72,527,208...72,539,539
JBrowse link
G Brcc3 BRCA1/BRCA2-containing complex, subunit 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:74,460,234...74,499,307
Ensembl chr  X:74,460,234...74,497,607
JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr11:78,641,332...78,642,555
Ensembl chr11:78,641,332...78,642,555
JBrowse link
G Cmc4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:74,448,452...74,460,190
Ensembl chr  X:74,448,452...74,460,190
JBrowse link
G Ctag2l2 CTAG2 like 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,784,533...73,785,794
Ensembl chr  X:73,784,533...73,785,794
JBrowse link
G Dkc1 dyskeratosis congenita 1, dyskerin ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:74,139,460...74,153,382
Ensembl chr  X:74,139,460...74,153,383
JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,316,823...73,325,939
Ensembl chr  X:73,316,823...73,325,943
JBrowse link
G Dusp9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:72,682,995...72,687,120
Ensembl chr  X:72,683,025...72,687,120
JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,298,297...73,305,188
Ensembl chr  X:73,298,293...73,305,154
JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:74,213,950...74,426,342
Ensembl chr  X:74,216,321...74,426,221
JBrowse link
G F8a factor 8-associated gene A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:72,271,912...72,274,401
Ensembl chr  X:72,271,897...72,274,401
JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,427,816...73,436,856
Ensembl chr  X:73,428,325...73,436,878
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:73,356,589...73,363,761
Ensembl chr  X:73,356,639...73,363,755
JBrowse link
G Flna filamin, alpha ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,267,067...73,293,787
Ensembl chr  X:73,267,067...73,293,426
JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:74,426,005...74,440,764
Ensembl chr  X:74,426,005...74,440,065
JBrowse link
G G6pdx glucose-6-phosphate dehydrogenase X-linked ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,453,089...73,472,486
Ensembl chr  X:73,453,089...73,472,800
JBrowse link
G Gab3 growth factor receptor bound protein 2-associated protein 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:74,032,151...74,128,511
Ensembl chr  X:74,010,449...74,129,064
JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,348,618...73,355,473
Ensembl chr  X:73,348,604...73,355,468
JBrowse link
G H2ab2 H2A.B variant histone 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:115,590,875...115,591,222
Ensembl chr  X:115,590,875...115,591,222
JBrowse link
G H2ab3 H2A.B variant histone 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:119,222,279...119,222,923
Ensembl chr  X:119,222,445...119,222,792
JBrowse link
G Haus7 HAUS augmin-like complex, subunit 7 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:72,480,921...72,502,635
Ensembl chr  X:72,480,921...72,502,650
JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:72,986,400...73,011,430
Ensembl chr  X:72,986,398...73,009,963
JBrowse link
G Idh3g isocitrate dehydrogenase 3 (NAD+), gamma ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:72,822,569...72,830,471
Ensembl chr  X:72,822,569...72,830,503
JBrowse link
G Ikbkg inhibitor of kappaB kinase gamma ISO ClinVar Annotator: match by term: Immunodeficiency 33
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8169255 PMID:11047757 PMID:11179023 PMID:11484156 PMID:11590134 More... NCBI chr  X:73,436,883...73,498,013
Ensembl chr  X:73,436,896...73,497,460
JBrowse link
G Il9r interleukin 9 receptor ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr11:32,137,544...32,155,283
Ensembl chr11:32,137,541...32,150,279
JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,057,520...73,067,527
Ensembl chr  X:73,057,520...73,067,524
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:72,897,384...72,924,843
Ensembl chr  X:72,897,384...72,939,711
JBrowse link
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,395,768...73,397,224
Ensembl chr  X:73,394,882...73,397,224
JBrowse link
G LOC107963956 green (M) opsin gene upstream regulatory region ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,166,107...73,171,117 JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,070,198...73,129,296
Ensembl chr  X:73,070,198...73,129,296
JBrowse link
G Mir664 microRNA 664 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr 1:184,975,172...184,975,240
Ensembl chr 1:184,975,172...184,975,240
JBrowse link
G Mir718 microRNA 718 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,067,455...73,067,542
Ensembl chr  X:73,067,455...73,067,542
JBrowse link
G Mpp1 membrane protein, palmitoylated ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:74,153,339...74,174,622
Ensembl chr  X:74,153,339...74,174,622
JBrowse link
G Mtcp1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:74,454,048...74,460,190
Ensembl chr  X:74,454,050...74,460,194
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:72,960,476...72,965,550
Ensembl chr  X:72,960,479...72,965,550
JBrowse link
G Opn1mw opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan) ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,171,072...73,194,362
Ensembl chr  X:73,171,070...73,194,366
JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:72,836,963...72,868,649
Ensembl chr  X:72,836,965...72,868,575
JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,372,644...73,388,295
Ensembl chr  X:73,372,672...73,388,295
JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:72,800,564...72,816,116
Ensembl chr  X:72,800,696...72,816,120
JBrowse link
G Pnck pregnancy upregulated non-ubiquitously expressed CaM kinase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:72,699,598...72,703,723
Ensembl chr  X:72,699,600...72,703,723
JBrowse link
G Rab39b RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:74,615,651...74,621,837
Ensembl chr  X:74,615,652...74,621,837
JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:72,965,727...72,974,408
Ensembl chr  X:72,965,727...72,974,456
JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,314,463...73,316,741
Ensembl chr  X:73,314,418...73,316,741
JBrowse link
G Slc10a3 solute carrier family 10 (sodium/bile acid cotransporter family), member 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,412,823...73,416,955
Ensembl chr  X:73,412,823...73,416,955
JBrowse link
G Slc6a8 solute carrier family 6 (neurotransmitter transporter, creatine), member 8 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:72,716,739...72,726,108
Ensembl chr  X:72,716,756...72,726,108
JBrowse link
G Smim9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:74,189,663...74,207,362
Ensembl chr  X:74,189,662...74,207,376
JBrowse link
G Snora70 small nucleolar RNA, H/ACA box 70 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,316,098...73,316,226
Ensembl chr  X:73,316,090...73,316,226
JBrowse link
G Spry3 sprouty RTK signaling antagonist 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868
G Srpk3 serine/arginine-rich protein specific kinase 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:72,818,011...72,822,531
Ensembl chr  X:72,818,011...72,822,531
JBrowse link
G Ssr4 signal sequence receptor, delta ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:72,830,778...72,834,432
Ensembl chr  X:72,830,634...72,834,436
JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,325,498...73,340,182
Ensembl chr  X:73,325,518...73,333,757
JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,194,515...73,211,444
Ensembl chr  X:73,194,550...73,211,444
JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,220,865...73,252,104
Ensembl chr  X:73,220,865...73,252,106
JBrowse link
G Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868
G Trex2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:72,477,311...72,478,949
Ensembl chr  X:72,477,311...72,478,950
JBrowse link
G Ubl4a ubiquitin-like 4A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,409,324...73,412,154
Ensembl chr  X:73,409,324...73,416,824
JBrowse link
G Vamp7 vesicle-associated membrane protein 7 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868
G Vbp1 von Hippel-Lindau binding protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:74,557,903...74,578,552
Ensembl chr  X:74,557,905...74,578,548
JBrowse link
immunodeficiency 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cybb cytochrome b-245, beta polypeptide ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
OMIM
CTD
ClinVar
PMID:8634410 PMID:8655140 PMID:8900212 PMID:8916969 PMID:9536098 More... NCBI chr  X:9,301,493...9,354,005
Ensembl chr  X:9,301,491...9,354,010
JBrowse link
immunodeficiency 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 9430015G10Rik RIKEN cDNA 9430015G10 gene ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,194,455...156,211,720
Ensembl chr 4:156,194,439...156,211,722
JBrowse link
G Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,976,332...155,991,708
Ensembl chr 4:155,976,279...155,991,708
JBrowse link
G Actrt2 actin-related protein T2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,750,885...154,752,324
Ensembl chr 4:154,750,890...154,752,324
JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,249,747...156,281,997
Ensembl chr 4:156,249,747...156,281,945
JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,875,432...155,884,132
Ensembl chr 4:155,874,896...155,877,659
JBrowse link
G Arhgef16 Rho guanine nucleotide exchange factor 16 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,362,926...154,384,535
Ensembl chr 4:154,362,943...154,386,133
JBrowse link
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,825,097...155,845,579
Ensembl chr 4:155,825,098...155,845,550
JBrowse link
G Aurkaip1 aurora kinase A interacting protein 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,915,709...155,917,555
Ensembl chr 4:155,915,729...155,917,587
JBrowse link
G B3galt6 UDP-Gal:betaGal beta 1,3-galactosyltransferase, polypeptide 6 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,073,923...156,077,135
Ensembl chr 4:156,073,923...156,077,106
JBrowse link
G C1qtnf12 C1q and tumor necrosis factor related 12 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,046,769...156,051,086
Ensembl chr 4:156,046,775...156,051,086
JBrowse link
G Ccdc27 coiled-coil domain containing 27 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,111,101...154,127,202
Ensembl chr 4:154,111,096...154,127,134
JBrowse link
G Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,894,468...155,909,005
Ensembl chr 4:155,896,946...155,909,000
JBrowse link
G Cdk11b cyclin dependent kinase 11B ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,709,303...155,734,392
Ensembl chr 4:155,709,311...155,734,395
JBrowse link
G Cep104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,059,649...154,093,189
Ensembl chr 4:154,059,651...154,093,189
JBrowse link
G Cfap74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,493,647...155,551,280
Ensembl chr 4:155,493,647...155,551,280
JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,949,180...155,953,897
Ensembl chr 4:155,949,180...155,953,897
JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,931,829...155,943,760
Ensembl chr 4:155,931,859...155,943,760
JBrowse link
G Faap20 Fanconi anemia core complex associated protein 20 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,333,168...155,341,144
Ensembl chr 4:155,334,259...155,341,144
JBrowse link
G Fndc10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,778,775...155,780,942
Ensembl chr 4:155,778,799...155,780,938
JBrowse link
G Gabrd gamma-aminobutyric acid (GABA) A receptor, subunit delta ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,469,437...155,482,528
Ensembl chr 4:155,469,437...155,482,569
JBrowse link
G Gnb1 guanine nucleotide binding protein (G protein), beta 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,575,514...155,643,726
Ensembl chr 4:155,575,818...155,643,726
JBrowse link
G Hes5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,042,358...155,046,829
Ensembl chr 4:155,045,380...155,046,828
JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,954,006...155,973,561
Ensembl chr 4:155,954,003...155,973,560
JBrowse link
G Isg15 ISG15 ubiquitin-like modifier ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency OMIM
ClinVar
PMID:9536098 PMID:9683594 PMID:10862081 PMID:17576681 PMID:19492091 More... NCBI chr 4:156,283,881...156,285,275
Ensembl chr 4:156,283,912...156,285,253
JBrowse link
G Klhl17 kelch-like 17 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,313,501...156,319,314
Ensembl chr 4:156,313,792...156,319,314
JBrowse link
G Lrrc47 leucine rich repeat containing 47 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,096,260...154,105,969
Ensembl chr 4:154,096,188...154,105,970
JBrowse link
G Megf6 multiple EGF-like-domains 6 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,255,156...154,360,178
Ensembl chr 4:154,255,187...154,360,170
JBrowse link
G Mib2 mindbomb E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,738,925...155,753,711
Ensembl chr 4:155,739,134...155,753,655
JBrowse link
G Mir200a microRNA 200a ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,139,353...156,139,442
Ensembl chr 4:156,139,353...156,139,442
JBrowse link
G Mir200b microRNA 200b ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,140,138...156,140,207
Ensembl chr 4:156,140,138...156,140,207
JBrowse link
G Mir429 microRNA 429 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,138,362...156,138,444
Ensembl chr 4:156,138,362...156,138,444
JBrowse link
G Mmel1 membrane metallo-endopeptidase-like 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,954,042...154,979,987
Ensembl chr 4:154,954,042...154,979,985
JBrowse link
G Mmp23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,735,111...155,738,982
Ensembl chr 4:155,735,112...155,737,841
JBrowse link
G Morn1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,167,771...155,229,964
Ensembl chr 4:155,171,034...155,229,962
JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,887,335...155,893,288
Ensembl chr 4:155,887,335...155,894,432
JBrowse link
G Mxra8 matrix-remodelling associated 8 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,924,137...155,928,559
Ensembl chr 4:155,924,137...155,928,545
JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,646,838...155,675,458
Ensembl chr 4:155,646,835...155,675,458
JBrowse link
G Noc2l NOC2 like nucleolar associated transcriptional repressor ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,319,112...156,332,078
Ensembl chr 4:156,320,376...156,332,073
JBrowse link
G Pank4 pantothenate kinase 4 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,048,580...155,065,395
Ensembl chr 4:155,048,580...155,065,395
JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,151,487...155,156,863
Ensembl chr 4:155,151,473...155,156,890
JBrowse link
G Plch2 phospholipase C, eta 2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,067,572...155,148,548
Ensembl chr 4:155,067,572...155,141,241
JBrowse link
G Plekhn1 pleckstrin homology domain containing, family N member 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,305,913...156,312,999
Ensembl chr 4:156,305,913...156,314,174
JBrowse link
G Prdm16 PR domain containing 16 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,400,579...154,721,851
Ensembl chr 4:154,400,582...154,721,330
JBrowse link
G Prkcz protein kinase C, zeta ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,344,579...155,445,856
Ensembl chr 4:155,344,586...155,445,818
JBrowse link
G Prxl2b peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,980,884...154,983,522
Ensembl chr 4:154,979,961...154,983,592
JBrowse link
G Pusl1 pseudouridylate synthase-like 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,973,314...155,976,231
Ensembl chr 4:155,972,336...155,976,238
JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,158,566...155,170,840
Ensembl chr 4:155,158,567...155,170,839
JBrowse link
G Rnf223 ring finger 223 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,214,972...156,217,874
Ensembl chr 4:156,214,970...156,217,877
JBrowse link
G Samd11 sterile alpha motif domain containing 11 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,331,423...156,342,409
Ensembl chr 4:156,331,423...156,340,717
JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,077,300...156,098,067
Ensembl chr 4:156,077,329...156,098,067
JBrowse link
G Ski ski sarcoma viral oncogene homolog (avian) ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,238,532...155,307,536
Ensembl chr 4:155,238,532...155,307,049
JBrowse link
G Slc35e2 solute carrier family 35, member E2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,685,873...155,707,797
Ensembl chr 4:155,685,873...155,707,797
JBrowse link
G Smim1 small integral membrane protein 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,104,927...154,110,550
Ensembl chr 4:154,104,927...154,110,687
JBrowse link
G Ssu72 Ssu72 RNA polymerase II CTD phosphatase homolog (yeast) ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,789,272...155,818,336
Ensembl chr 4:155,789,257...155,818,336
JBrowse link
G Tas1r3 taste receptor, type 1, member 3 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,943,725...155,947,810
Ensembl chr 4:155,943,725...155,947,819
JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,818,336...155,825,025
Ensembl chr 4:155,819,261...155,825,021
JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,553,571...155,555,315
Ensembl chr 4:155,553,571...155,555,315
JBrowse link
G Tmem88b transmembrane protein 88B ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,866,048...155,870,331
Ensembl chr 4:155,866,048...155,870,331
JBrowse link
G Tnfrsf14 tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator) ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,002,944...155,013,077
Ensembl chr 4:155,006,390...155,013,020
JBrowse link
G Tnfrsf18 tumor necrosis factor receptor superfamily, member 18 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,110,779...156,113,351
Ensembl chr 4:156,110,621...156,113,352
JBrowse link
G Tnfrsf4 tumor necrosis factor receptor superfamily, member 4 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,098,049...156,101,070
Ensembl chr 4:156,098,300...156,101,069
JBrowse link
G Tprg1l transformation related protein 63 regulated 1 like ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,241,942...154,246,763
Ensembl chr 4:154,241,942...154,245,123
JBrowse link
G Trp73 transformation related protein 73 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,140,706...154,224,332
Ensembl chr 4:154,140,706...154,224,665
JBrowse link
G Ttc34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,921,871...154,951,582
Ensembl chr 4:154,921,916...154,951,584
JBrowse link
G Ttll10 tubulin tyrosine ligase-like family, member 10 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,119,292...156,135,274
Ensembl chr 4:156,119,297...156,143,871
JBrowse link
G Ube2j2 ubiquitin-conjugating enzyme E2J 2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,028,270...156,044,061
Ensembl chr 4:156,028,288...156,044,061
JBrowse link
G Vwa1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,852,952...155,859,042
Ensembl chr 4:155,852,606...155,859,155
JBrowse link
G Wrap73 WD repeat containing, antisense to Trp73 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,226,811...154,241,278
Ensembl chr 4:154,226,829...154,251,877
JBrowse link
immunodeficiency 69 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifng interferon gamma ISO ClinVar Annotator: match by term: Immunodeficiency 69 OMIM
ClinVar
PMID:24033266 PMID:25741868 PMID:32163377 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
JBrowse link
Immunodeficiency 86 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sppl2a signal peptide peptidase like 2A ISO ClinVar Annotator: match by term: Immunodeficiency 86 OMIM
ClinVar
PMID:23472171 PMID:30127434 NCBI chr 2:126,732,311...126,775,706
Ensembl chr 2:126,732,311...126,775,155
JBrowse link
Immunodeficiency 88 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx21 T-box 21 ISO ClinVar Annotator: match by term: Immunodeficiency 88 ClinVar
OMIM
PMID:25741868 NCBI chr11:96,988,833...97,006,157
Ensembl chr11:96,988,897...97,006,157
JBrowse link
inhalation anthrax term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cxcl10 C-X-C motif chemokine ligand 10 disease_progression IMP RGD PMID:21124994 RGD:5135283 NCBI chr 5:92,494,497...92,496,748
Ensembl chr 5:92,494,497...92,496,748
JBrowse link
G Cxcl11 chemokine (C-X-C motif) ligand 11 disease_progression IMP RGD PMID:21124994 RGD:5135283 NCBI chr 5:92,507,403...92,511,155
Ensembl chr 5:92,507,403...92,513,344
JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 disease_progression IMP RGD PMID:21124994 RGD:5135283 NCBI chr 5:92,469,190...92,475,938
Ensembl chr 5:92,469,206...92,475,938
JBrowse link
Latent Tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP-binding cassette, sub-family B member 1A ISO mRNA, protein:increased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human) RGD PMID:29602771 RGD:41404732 NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575
JBrowse link
G Gpa33 glycoprotein A33 transmembrane ISO mRNA, protein:decreased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human) RGD PMID:29602771 RGD:41404732 NCBI chr 1:165,957,790...165,994,079
Ensembl chr 1:165,957,807...165,994,079
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO mRNA, protein:increased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human RGD PMID:29602771 RGD:41404732 NCBI chr 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382
JBrowse link
lepromatous leprosy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement component 3 severity ISO protein:decreased expression:serum RGD PMID:6342123 RGD:7411735 NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
JBrowse link
G Cd163 CD163 antigen exacerbates ISO protein:increased expression:blood serum (human) RGD PMID:22851198 PMID:28355218 RGD:39939078, RGD:127345133 NCBI chr 6:124,281,596...124,307,488
Ensembl chr 6:124,281,615...124,307,486
JBrowse link
G Cfb complement factor B severity ISO RGD PMID:6342123 RGD:7411735 NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494
JBrowse link
G H2-Aa histocompatibility 2, class II antigen A, alpha susceptibility ISO DNA:polymorphisms: :HLA-DQA1*03, HLA-DQA1*05 (human) RGD PMID:19698125 RGD:5147788 NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
JBrowse link
G Il27 interleukin 27 ameliorates ISO mRNA:decreased expression:skin of body (human) RGD PMID:26030183 RGD:126790539 NCBI chr 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113
JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 susceptibility ISO DNA:SNP:cds:161G>A (human) RGD PMID:20650301 RGD:8694069 NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511
JBrowse link
leprosy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Batf3 basic leucine zipper transcription factor, ATF-like 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25642632 NCBI chr 1:190,830,611...190,841,140
Ensembl chr 1:190,830,044...190,841,142
JBrowse link
G Ccdc122 coiled-coil domain containing 122 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:25741868 NCBI chr14:77,274,212...77,349,703
Ensembl chr14:77,274,212...77,349,697
JBrowse link
G Ccdc88b coiled-coil domain containing 88B ISO CTD Direct Evidence: marker/mechanism CTD PMID:25642632 NCBI chr19:6,821,991...6,835,586
Ensembl chr19:6,821,991...6,835,579
JBrowse link
G Cd8a CD8 subunit alpha exacerbates ISO mRNA:increased expression:blood (human) RGD PMID:31784594 RGD:124715449 NCBI chr 6:71,350,411...71,356,155
Ensembl chr 6:71,350,411...71,356,157
JBrowse link
G Cxcl15 C-X-C motif chemokine ligand 15 severity ISO DNA:SNP:promoter:g.-353T>A (rs4073) (human) RGD PMID:30303246 RGD:40400755 NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility ISO DNA:polymorphisms (human) RGD PMID:20003324 PMID:19698125 RGD:5147585, RGD:5147788 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
JBrowse link
G Il10 interleukin 10 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:28492532 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
JBrowse link
G Il17a interleukin 17A severity ISO mRNA:decreased expression:epidermis (human) RGD PMID:22641009 RGD:8698644 NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
JBrowse link
G Il19 interleukin 19 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:28492532 NCBI chr 1:130,860,393...130,873,194
Ensembl chr 1:130,860,393...130,867,852
JBrowse link
G Il23r interleukin 23 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22019778 NCBI chr 6:67,399,906...67,468,838
Ensembl chr 6:67,399,916...67,468,839
JBrowse link
G Lacc1 laccase domain containing 1 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:25741868 NCBI chr14:77,261,640...77,274,344
Ensembl chr14:77,261,640...77,274,344
JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:26467025 PMID:28492532 NCBI chr15:91,556,994...91,700,327
Ensembl chr15:91,557,378...91,700,323
JBrowse link
G Lta lymphotoxin A susceptibility ISO ClinVar Annotator: match by term: Leprosy, early-onset, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:15052269 PMID:17353895 NCBI chr17:35,422,141...35,424,568
Ensembl chr17:35,422,141...35,424,327
JBrowse link
G Mrc1 mannose receptor, C type 1 ISO ClinVar Annotator: match by term: Susceptibility to leprosy and multibacillary leprosy ClinVar PMID:20035344 NCBI chr 2:14,234,225...14,336,834
Ensembl chr 2:14,234,203...14,336,868
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO DNA:polymorphisms: :multiple (human)
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
RGD
PMID:20350193 RGD:5508743 NCBI chr 8:89,373,943...89,415,103
Ensembl chr 8:89,373,943...89,415,102
JBrowse link
G Parl presenilin associated, rhomboid-like ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr16:20,098,570...20,121,090
Ensembl chr16:20,098,568...20,121,137
JBrowse link
G Pink1 PTEN induced putative kinase 1 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr 4:138,040,718...138,053,631
Ensembl chr 4:138,040,720...138,053,618
JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: LPRS2 ClinVar PMID:10072423 PMID:11558785 PMID:11889248 PMID:12114481 PMID:12730996 More... NCBI chr17:11,059,227...12,282,257
Ensembl chr17:11,059,271...12,282,248
JBrowse link
G Rab32 RAB32, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:22019778 NCBI chr10:10,420,783...10,433,951
Ensembl chr10:10,420,746...10,434,009
JBrowse link
G Ripk2 receptor (TNFRSF)-interacting serine-threonine kinase 2 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr 4:16,122,740...16,163,674
Ensembl chr 4:16,122,733...16,163,647
JBrowse link
G Slc11a1 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 susceptibility ISO DNA:repeat:promoter (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms, haplotype (human)
CTD
RGD
PMID:16597321 PMID:15755200 PMID:10608779 RGD:5684957, RGD:5684972 NCBI chr 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221
JBrowse link
G Tlr1 toll-like receptor 1 susceptibility ISO DNA:snp:cds:p.I602S (human)
ClinVar Annotator: match by term: LPRS1 | ClinVar Annotator: match by term: Leprosy, susceptibility to, 5
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:17475868 PMID:17548585 PMID:18461142 PMID:19456232 PMID:23105135 More... RGD:7246917 NCBI chr 5:65,082,023...65,090,945
Ensembl chr 5:65,082,022...65,090,906
JBrowse link
G Tlr2 toll-like receptor 2 susceptibility ISO DNA:polymorphisms:microsatellite,597C>T(human)
ClinVar Annotator: match by term: Leprosy, susceptibility to, 3
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:11476982 PMID:12646604 PMID:15726416 PMID:19111445 PMID:25741868 More... RGD:8553055 NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
JBrowse link
G Tlr6 toll-like receptor 6 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr 5:65,109,373...65,128,387
Ensembl chr 5:65,109,374...65,117,440
JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:SNP:promoter:−308G>A (human) RGD PMID:20650301 RGD:8694069 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
JBrowse link
G Tnfsf15 tumor necrosis factor (ligand) superfamily, member 15 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr 4:63,642,837...63,663,296
Ensembl chr 4:63,642,840...63,663,350
JBrowse link
G Tnfsf8 tumor necrosis factor (ligand) superfamily, member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25320285 NCBI chr 4:63,749,439...63,779,745
Ensembl chr 4:63,749,545...63,779,584
JBrowse link
listeriosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton agammaglobulinemia tyrosine kinase ameliorates IMP RGD PMID:23544144 RGD:124713555 NCBI chr  X:133,443,083...133,484,366
Ensembl chr  X:133,443,085...133,484,319
JBrowse link
G Cd8a CD8 subunit alpha disease_progression
exacerbates
IEP
IMP
protein:increased expression:liver (mouse)
protein:decreased expression:spleen, liver (mouse)
RGD PMID:20348006 PMID:2120126 RGD:124715456, RGD:124715458 NCBI chr 6:71,350,411...71,356,155
Ensembl chr 6:71,350,411...71,356,157
JBrowse link
G Cebpb CCAAT/enhancer binding protein beta severity IMP RGD PMID:17911624 RGD:40903039 NCBI chr 2:167,530,835...167,532,352
Ensembl chr 2:167,530,835...167,532,338
JBrowse link
G Cyld CYLD lysine 63 deubiquitinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23825949 NCBI chr 8:89,423,506...89,478,574
Ensembl chr 8:89,423,675...89,478,573
JBrowse link
G Il15 interleukin 15 ISO protein:increased expression:epithelial cell, intestine RGD PMID:9826341 RGD:1626618 NCBI chr 8:83,058,253...83,129,883
Ensembl chr 8:83,058,261...83,129,851
JBrowse link
G Il17d interleukin 17D severity IMP RGD PMID:31244826 RGD:40903065 NCBI chr14:57,762,197...57,780,623
Ensembl chr14:57,762,234...57,780,623
JBrowse link
G Il1rn interleukin 1 receptor antagonist susceptibility ISO RGD PMID:8855299 RGD:11522760 NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
JBrowse link
G Il23a interleukin 23, alpha subunit p19 IMP RGD PMID:19923464 PMID:22966045 RGD:39457955, RGD:39457958 NCBI chr10:128,132,009...128,133,953
Ensembl chr10:128,132,008...128,134,621
JBrowse link
G Il33 interleukin 33 treatment IEP RGD PMID:25577440 RGD:40400693 NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118
JBrowse link
G Mir146 microRNA 146 ameliorates IMP RGD PMID:29587465 PMID:29728425 RGD:126925140, RGD:126925176 NCBI chr11:43,265,224...43,265,288
Ensembl chr11:43,265,224...43,265,288
JBrowse link
G Mir21a microRNA 21a exacerbates IMP RGD PMID:28589100 RGD:41404664 NCBI chr11:86,474,893...86,474,984
Ensembl chr11:86,474,893...86,474,984
JBrowse link
G Mt1 metallothionein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19576872 NCBI chr 8:94,905,214...94,906,955
Ensembl chr 8:94,905,710...94,906,955
JBrowse link
G Mt2 metallothionein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19576872 NCBI chr 8:94,899,246...94,900,195
Ensembl chr 8:94,899,292...94,900,196
JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta IMP RGD PMID:26311905 RGD:40890274 NCBI chr 4:149,733,625...149,787,023
Ensembl chr 4:149,733,625...149,787,028
JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 exacerbates IMP RGD PMID:30975711 RGD:127229912 NCBI chr14:56,022,452...56,026,314
Ensembl chr14:56,022,452...56,026,322
JBrowse link
G Sting1 stimulator of interferon response cGAMP interactor 1 IMP RGD PMID:23378430 PMID:21098106 RGD:39128219, RGD:39128233 NCBI chr18:35,866,731...35,873,607
Ensembl chr18:35,866,732...35,873,607
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16751399 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
JBrowse link
G Tnfsf8 tumor necrosis factor (ligand) superfamily, member 8 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16177108 PMID:21699557 NCBI chr 4:63,749,439...63,779,745
Ensembl chr 4:63,749,545...63,779,584
JBrowse link
Meningeal Tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il4ra interleukin 4 receptor, alpha ISO protein:decreased expression:serum RGD PMID:21251883 RGD:5128510 NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646
JBrowse link
G Tnf tumor necrosis factor IMP RGD PMID:10318940 RGD:10449456 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
JBrowse link
Multibacillary Leprosy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ggt1 gamma-glutamyltransferase 1 ISO protein:increased activity:blood: RGD PMID:1680936 RGD:14747017 NCBI chr10:75,396,910...75,422,027
Ensembl chr10:75,397,438...75,422,034
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta ISO DNA:polymorphism (human) RGD PMID:20353806 RGD:5147577 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
JBrowse link
G Slc11a1 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 ISO DNA:insertion/deletion:3' utr (human) RGD PMID:11791966 RGD:5684970 NCBI chr 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221
JBrowse link
multidrug-resistant tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxp3 forkhead box P3 ISO mRNA:increased expression:peripheral blood: RGD PMID:25483347 RGD:38456003 NCBI chr  X:7,445,915...7,461,482
Ensembl chr  X:7,439,883...7,461,484
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 ISO DNA:polymorphisms (human) RGD PMID:14522182 RGD:5147828 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta ISO DNA:polymorphism (human) RGD PMID:14522182 RGD:5147828 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
JBrowse link
Mycobacterium avium complex disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO associated with pulmonary diseases; protein:increased expression:serum RGD PMID:19641295 RGD:5686838 NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778
JBrowse link
G Cxcl15 C-X-C motif chemokine ligand 15 ISO protein:increased expression:blood plasma, erythrocyte (human) RGD PMID:26300588 RGD:11250849 NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
JBrowse link
G Il17a interleukin 17A ISO RGD PMID:20797909 RGD:4888520 NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
JBrowse link
G Tnf tumor necrosis factor ISO associated with HIV Infections RGD PMID:7640175 RGD:10450731 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
JBrowse link
Mycobacterium Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO associated with pulmonary sarcoidosis;protein:increased expression:blood serum (human) RGD PMID:15881283 RGD:40818305 NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
JBrowse link
G Cd36 CD36 molecule IMP RGD PMID:20950462 RGD:6893545 NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799
JBrowse link
G Defb3 defensin beta 3 ISO protein:increased expression:plasma, respiratory system fluid/secretion RGD PMID:11296379 RGD:4892261 NCBI chr 8:19,343,377...19,345,355
Ensembl chr 8:19,343,376...19,345,307
JBrowse link
G Defb4 defensin beta 4 ISO protein:increased expression:plasma, respiratory system fluid/secretion RGD PMID:11296379 RGD:4892261 NCBI chr 8:19,248,720...19,251,563
Ensembl chr 8:19,248,722...19,251,561
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility ISO associated with pulmonary sarcoidosis RGD PMID:15881283 RGD:40818305 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
JBrowse link
G Ifng interferon gamma ISO associated with Diabetes Mellitus, Insulin-Dependent;mRNA:increased expression:lung RGD PMID:19060451 RGD:2311490 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
JBrowse link
G Ifngr1 interferon gamma receptor 1 ISO DNA: missense mutations: cds: I87T; V63G
DNA: mutation
RGD PMID:21266457 PMID:15589309 RGD:6480268, RGD:6480429 NCBI chr10:19,467,697...19,485,977
Ensembl chr10:19,467,697...19,485,977
JBrowse link
G Il22 interleukin 22 ISO RGD PMID:19864591 RGD:5147407 NCBI chr10:118,040,456...118,045,952
Ensembl chr10:118,040,847...118,045,952
JBrowse link
G Il22b interleukin 22B ISO RGD PMID:19864591 RGD:5147407 NCBI chr10:118,125,534...118,130,943
Ensembl chr10:118,125,534...118,130,943
JBrowse link
G Mir146 microRNA 146 IEP miRNA:altered expression:peritoneum, liver (mouse) RGD PMID:27025258 RGD:126925155 NCBI chr11:43,265,224...43,265,288
Ensembl chr11:43,265,224...43,265,288
JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 ameliorates IMP RGD PMID:28401933 RGD:127229921 NCBI chr14:56,022,452...56,026,314
Ensembl chr14:56,022,452...56,026,322
JBrowse link
G Slc11a1 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 IAGP DNA:point mutation (mouse) RGD PMID:11821237 RGD:5684969 NCBI chr 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11452125 NCBI chr 1:52,158,588...52,201,024
Ensembl chr 1:52,158,599...52,201,024
JBrowse link
G Tnfrsf8 tumor necrosis factor receptor superfamily, member 8 ISO CTD Direct Evidence: therapeutic CTD PMID:15316035 NCBI chr 4:144,993,702...145,041,734
Ensembl chr 4:144,993,707...145,041,734
JBrowse link
G Tnfsf8 tumor necrosis factor (ligand) superfamily, member 8 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:15316035 PMID:18941223 NCBI chr 4:63,749,439...63,779,745
Ensembl chr 4:63,749,545...63,779,584
JBrowse link
Nontuberculous Mycobacterium Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cftr cystic fibrosis transmembrane conductance regulator susceptibility ISO DNA:mutations: :
DNA:SNP:cds:rs113857788(p.Q1352H)(human)
RGD PMID:19858235 PMID:18703788 PMID:23514810 RGD:4140395, RGD:4140430, RGD:36049751 NCBI chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767
JBrowse link
G Ifngr1 interferon gamma receptor 1 susceptibility ISO DNA:nonsense mutation
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:8960473 PMID:9389728 PMID:9536098 PMID:9806040 PMID:10192386 More... RGD:1624283 NCBI chr10:19,467,697...19,485,977
Ensembl chr10:19,467,697...19,485,977
JBrowse link
G Il12b interleukin 12b susceptibility ISO disseminated BCG and Salmonella enteritidis infection, OMIM:209950
ClinVar Annotator: match by term: Familial Atypical Mycobacteriosis, Autosomal Recessive
ClinVar
RGD
PMID:9854038 RGD:1600042 NCBI chr11:44,290,890...44,305,504
Ensembl chr11:44,290,890...44,304,860
JBrowse link
G Il18 interleukin 18 ISO RGD PMID:21045270 RGD:4889546 NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
JBrowse link
G Il1r1 interleukin 1 receptor, type I IMP RGD PMID:16797208 RGD:5037237 NCBI chr 1:40,261,651...40,355,361
Ensembl chr 1:40,264,240...40,356,417
JBrowse link
G Il20ra interleukin 20 receptor, alpha ISO ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183 NCBI chr10:19,587,421...19,635,801
Ensembl chr10:19,588,318...19,635,801
JBrowse link
G Il22ra2 interleukin 22 receptor, alpha 2 ISO ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183 NCBI chr10:19,497,776...19,510,429
Ensembl chr10:19,497,746...19,510,429
JBrowse link
G Olig3 oligodendrocyte transcription factor 3 ISO ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183 NCBI chr10:19,232,287...19,234,352
Ensembl chr10:19,232,281...19,234,352
JBrowse link
G Pex7 peroxisomal biogenesis factor 7 ISO ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183 NCBI chr10:19,735,836...19,783,420
Ensembl chr10:19,729,646...19,783,435
JBrowse link
G Slc35d3 solute carrier family 35, member D3 ISO ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183 NCBI chr10:19,723,662...19,728,195
Ensembl chr10:19,723,662...19,727,205
JBrowse link
G Stat1 signal transducer and activator of transcription 1 susceptibility ISO DNA:transition: ; 2116T>C
ClinVar Annotator: match by term: Familial Atypical Mycobacteriosis, Autosomal Dominant
ClinVar
RGD
PMID:11452125 RGD:1600087 NCBI chr 1:52,158,588...52,201,024
Ensembl chr 1:52,158,599...52,201,024
JBrowse link
G Tnfaip3 tumor necrosis factor, alpha-induced protein 3 ISO ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183 NCBI chr10:18,876,658...18,891,158
Ensembl chr10:18,876,658...18,891,405
JBrowse link
ocular tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il10 interleukin 10 ISO protein:increased expression:aqueous humor RGD PMID:22583692 RGD:7364832 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
JBrowse link
Paratuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aoc3 amine oxidase, copper containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chr11:101,221,432...101,230,256
Ensembl chr11:101,221,431...101,232,764
JBrowse link
G C1rb complement component 1, r subcomponent B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chr 6:124,547,389...124,558,003
Ensembl chr 6:124,547,253...124,558,130
JBrowse link
G C3 complement component 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
JBrowse link
G F2 coagulation factor II ISO CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759
JBrowse link
G Gsn gelsolin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chr 2:35,146,371...35,197,914
Ensembl chr 2:35,146,392...35,197,904
JBrowse link
G Trf transferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chr 9:103,086,075...103,107,485
Ensembl chr 9:103,081,200...103,107,643
JBrowse link
Paucibacillary Leprosy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ggt1 gamma-glutamyltransferase 1 ISO protein:increased activity:blood: RGD PMID:1680936 RGD:14747017 NCBI chr10:75,396,910...75,422,027
Ensembl chr10:75,397,438...75,422,034
JBrowse link
pleural tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO protein:increased activity:pleural fluid:
protein:increased activity:serum:
protein:increased expression:serum:
RGD PMID:21860532 PMID:1818842 PMID:1689629 PMID:18357489 RGD:152995280, RGD:152998934, RGD:152995292, RGD:152995288 NCBI chr 2:163,565,703...163,592,154
Ensembl chr 2:163,568,504...163,592,159
JBrowse link
G Ccl22 C-C motif chemokine ligand 22 ISO RGD PMID:20337996 RGD:4891473 NCBI chr 8:95,472,312...95,478,016
Ensembl chr 8:95,472,218...95,478,327
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO RGD PMID:19159432 RGD:4145106 NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO protein:increased expression:pleural fluid, natural killer cell (human) RGD PMID:19159432 RGD:4145106 NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736
JBrowse link
G Foxp3 forkhead box P3 disease_progression ISO associated with human immunodeficiency virus infectious disease; RGD PMID:21303360 RGD:36947878 NCBI chr  X:7,445,915...7,461,482
Ensembl chr  X:7,439,883...7,461,484
JBrowse link
G Il1b interleukin 1 beta ISO DNA:polymorphism: :3953T>C (human) RGD PMID:10377182 RGD:4143226 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO DNA:repeat (human) RGD PMID:10377182 RGD:4143226 NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
JBrowse link
G Il27 interleukin 27 exacerbates ISO associated with Pleural Effusion;protein:increased expression:pleural fluid (human)
protein:increased expression:alveolar system (human)
RGD PMID:25753767 PMID:31819557 PMID:23962500 PMID:28844060 RGD:126790505, RGD:126790549, RGD:126790523, RGD:126790517 NCBI chr 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113
JBrowse link
G Il33 interleukin 33 ISO protein:increased expression:pleural fluid: RGD PMID:23301222 RGD:39939042 NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:pleura: RGD PMID:18715875 RGD:5129700 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
JBrowse link
G Tlr4 toll-like receptor 4 ISO RGD PMID:18295348 RGD:4144193 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
JBrowse link
G Tnc tenascin C ISO protein:increased expression:pleura RGD PMID:10950882 RGD:4889594 NCBI chr 4:63,878,022...63,965,554
Ensembl chr 4:63,878,022...63,965,252
JBrowse link
Pneumococcal Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfh complement component factor h exacerbates IMP
ISO
RGD PMID:26802141 PMID:26802141 RGD:108019050, RGD:108019050 NCBI chr 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502
JBrowse link
G Il17a interleukin 17A susceptibility ISO associated with Bronchiolitis;DNA:SNP:promoter:rs2275913 (human) RGD PMID:20437253 RGD:4889139 NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
JBrowse link
G Il27 interleukin 27 IEP associated with influenza A;protein:increased expression:lung (mouse) RGD PMID:24408967 RGD:11556418 NCBI chr 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113
JBrowse link
G Nfkbia nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha susceptibility ISO DNA:SNPs:enhancers: (rs3138053, rs2233406) (human)
DNA:SNP: :(rs1050851) (human)
RGD PMID:17463416 PMID:29407193 RGD:127285388, RGD:127285391 NCBI chr12:55,536,194...55,539,432
Ensembl chr12:55,536,195...55,539,432
JBrowse link
G Tirap toll-interleukin 1 receptor (TIR) domain-containing adaptor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:17322885 NCBI chr 9:35,095,687...35,111,587
Ensembl chr 9:35,095,847...35,111,587
JBrowse link
G Tlr9 toll-like receptor 9 IMP RGD PMID:17004992 RGD:5130710 NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082
JBrowse link
Pneumococcal Meningitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam17 a disintegrin and metallopeptidase domain 17 treatment ISO RGD PMID:24491581 RGD:13703038 NCBI chr12:21,373,510...21,423,633
Ensembl chr12:21,373,510...21,423,633
JBrowse link
G Aqp4 aquaporin 4 treatment IEP
IMP
protein:increased expression:brain: RGD PMID:15695511 PMID:15695511 RGD:8698660, RGD:8698660 NCBI chr18:15,522,451...15,544,039
Ensembl chr18:15,522,553...15,544,039
JBrowse link
G Atm ataxia telangiectasia mutated ameliorates IMP RGD PMID:15529270 RGD:126781748 NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040
JBrowse link
G Camp cathelicidin antimicrobial peptide ISO protein:increased expression:brain, coronal section (rat) RGD PMID:19879657 RGD:2316237 NCBI chr 9:109,676,445...109,678,524
Ensembl chr 9:109,676,447...109,678,685
JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 ISO RGD PMID:21109308 RGD:5134982 NCBI chr 5:91,039,104...91,040,980
Ensembl chr 5:91,039,100...91,040,974
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:105,617,952...105,647,329
Ensembl chr  X:105,617,952...105,647,285
JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO mRNA, protein:increased expression:brain (rat) RGD PMID:31933824 RGD:40903068 NCBI chr14:73,263,043...73,286,554
Ensembl chr14:73,263,043...73,286,554
JBrowse link
G Ido1 indoleamine 2,3-dioxygenase 1 treatment IMP RGD PMID:24844751 RGD:39939118 NCBI chr 8:25,074,148...25,086,987
Ensembl chr 8:25,074,152...25,087,025
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 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
JBrowse link
G Lgals3 lectin, galactose binding, soluble 3 ISO mRNA, protein:increased expression:brain RGD PMID:17706429 RGD:9685206 NCBI chr14:47,611,317...47,623,624
Ensembl chr14:47,605,208...47,623,617
JBrowse link
G Lgals9 lectin, galactose binding, soluble 9 ISO RGD PMID:17706429 RGD:9685206 NCBI chr11:78,853,805...78,875,750
Ensembl chr11:78,853,800...78,875,772
JBrowse link
G Marco macrophage receptor with collagenous structure ISO protein:increased expression:meninges, astrocyte RGD PMID:21299846 RGD:41412190 NCBI chr 1:120,402,267...120,432,753
Ensembl chr 1:120,402,267...120,432,753
JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment ISO RGD PMID:24419461 RGD:8657111 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO protein:increased expression:cerebrospinal fluid RGD PMID:17371820 PMID:24419461 RGD:1642043, RGD:8657111 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 IEP mRNA, protein:increased expression:brain RGD PMID:25443778 RGD:9831197 NCBI chr 8:89,373,943...89,415,103
Ensembl chr 8:89,373,943...89,415,102
JBrowse link
G Ntrk2 neurotrophic tyrosine kinase, receptor, type 2 ISO mRNA:increased expression:brain RGD PMID:21603940 RGD:5684913 NCBI chr13:58,954,363...59,281,782
Ensembl chr13:58,954,383...59,281,784
JBrowse link
G Rela v-rel reticuloendotheliosis viral oncogene homolog A (avian) ISO protein:increased expression:brain, nucleus RGD PMID:25443778 RGD:9831197 NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158
JBrowse link
G Serping1 serine (or cysteine) peptidase inhibitor, clade G, member 1 treatment ISO RGD PMID:17538891 RGD:8661645 NCBI chr 2:84,595,704...84,605,748
Ensembl chr 2:84,595,731...84,605,788
JBrowse link
G Tlr2 toll-like receptor 2 IEP mRNA:increased expression: : RGD PMID:12781911 RGD:7794740 NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
JBrowse link
G Tlr4 toll-like receptor 4 IEP mRNA:increased expression: : RGD PMID:12781911 RGD:7794740 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
JBrowse link
G Tlr9 toll-like receptor 9 IEP mRNA:increased expression: : RGD PMID:12781911 RGD:7794740 NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082
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 chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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 IMP RGD PMID:26456931 RGD:11098923 NCBI chr 6:122,530,768...122,541,139
Ensembl chr 6:122,530,760...122,541,139
JBrowse link
G Alox5 arachidonate 5-lipoxygenase IMP RGD PMID:20231413 RGD:4890435 NCBI chr 6:116,387,030...116,438,139
Ensembl chr 6:116,387,038...116,438,139
JBrowse link
G Btk Bruton agammaglobulinemia tyrosine kinase ameliorates IMP RGD PMID:30646846 RGD:124715470 NCBI chr  X:133,443,083...133,484,366
Ensembl chr  X:133,443,085...133,484,319
JBrowse link
G C3 complement component 3 disease_progression IMP
ISO
associated with Liver Cirrhosis, Experimental;protein:decreased expression:respiratory system fluid/secretion
protein:decreased expression:serum
RGD PMID:15972516 PMID:17956621 PMID:20405 RGD:5129509, RGD:5129523, RGD:5130163 NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 susceptibility IMP RGD PMID:16455992 RGD:4892130 NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344
JBrowse link
G Cd14 CD14 antigen IMP RGD PMID:17185649 RGD:4144788 NCBI chr18:36,858,117...36,859,868
Ensembl chr18:36,858,120...36,859,851
JBrowse link
G Chi3l1 chitinase 3 like 1 ISO protein:increased secretion:serum (human) RGD PMID:10515841 RGD:4892626 NCBI chr 1:134,109,894...134,117,769
Ensembl chr 1:134,109,914...134,117,919
JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 IMP RGD PMID:21774994 RGD:5147472 NCBI chr11:104,021,289...104,066,349
Ensembl chr11:104,023,681...104,066,349
JBrowse link
G Crhr2 corticotropin releasing hormone receptor 2 IMP RGD PMID:21774994 RGD:5147472 NCBI chr 6:55,067,033...55,110,001
Ensembl chr 6:55,067,034...55,110,001
JBrowse link
G Crp C-reactive protein, pentraxin-related disease_progression ISO RGD PMID:21281676 RGD:5131293 NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 IEP protein:increased expression:respiratory system fluid/secretion RGD PMID:20958976 RGD:5134957 NCBI chr 5:91,039,104...91,040,980
Ensembl chr 5:91,039,100...91,040,974
JBrowse link
G Cxcl15 C-X-C motif chemokine ligand 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24894820 NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 IEP protein:increased expression:lung RGD PMID:20381636 RGD:5135285 NCBI chr 5:92,469,190...92,475,938
Ensembl chr 5:92,469,206...92,475,938
JBrowse link
G Defb3 defensin beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24894820 NCBI chr 8:19,343,377...19,345,355
Ensembl chr 8:19,343,376...19,345,307
JBrowse link
G Hc hemolytic complement severity IAGP RGD PMID:7814608 RGD:5130159 NCBI chr 2:34,873,341...34,958,518
Ensembl chr 2:34,873,343...34,951,450
JBrowse link
G Hmox1 heme oxygenase 1 IEP associated with influenza;protein:increased expression:lung RGD PMID:17348295 RGD:4145366 NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217
JBrowse link
G Hp haptoglobin ISO RGD PMID:19396720 RGD:5147385 NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804
JBrowse link
G Il15 interleukin 15 IEP protein:increased expression:alveolar macrophage, bronchial epithelial cell RGD PMID:17611121 RGD:5000755 NCBI chr 8:83,058,253...83,129,883
Ensembl chr 8:83,058,261...83,129,851
JBrowse link
G Il15ra interleukin 15 receptor, alpha chain IEP RGD PMID:17611121 RGD:5000755 NCBI chr 2:11,709,992...11,739,129
Ensembl chr 2:11,710,101...11,739,128
JBrowse link
G Il17a interleukin 17A IDA RGD PMID:19995896 RGD:4888531 NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
JBrowse link
G Il18 interleukin 18 IMP RGD PMID:15770015 RGD:4889960 NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
JBrowse link
G Il6 interleukin 6 IDA RGD PMID:20643849 RGD:4143255 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
JBrowse link
G Lep leptin IMP RGD PMID:17822444 RGD:5128869 NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876
JBrowse link
G Lepr leptin receptor IMP RGD PMID:21148797 RGD:5128846 NCBI chr 4:101,574,393...101,676,375
Ensembl chr 4:101,574,601...101,672,549
JBrowse link
G Mapk1 mitogen-activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24894820 NCBI chr16:16,801,246...16,865,317
Ensembl chr16:16,801,246...16,865,317
JBrowse link
G Mapk3 mitogen-activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24894820 NCBI chr 7:126,358,798...126,364,988
Ensembl chr 7:126,358,773...126,364,991
JBrowse link
G Masp2 MBL associated serine protease 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12904520 NCBI chr 4:148,679,079...148,699,939
Ensembl chr 4:148,687,011...148,699,956
JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 no_association ISO DNA:polymorphisms:5' utr, exon:multiple (human)
DNA:mutations:5' utr, exon:multiple (human)
RGD PMID:12047967 PMID:18641104 RGD:4889478, RGD:4889477 NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
JBrowse link
G Nos2 nitric oxide synthase 2, inducible IMP RGD PMID:17056580 RGD:4891950 NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080
JBrowse link
G Pten phosphatase and tensin homolog ameliorates IMP myeloid knockout RGD PMID:20505137 RGD:127285597 NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560
JBrowse link
G Sftpd surfactant associated protein D severity IMP RGD PMID:16255775 RGD:4143519 NCBI chr14:40,894,169...40,907,155
Ensembl chr14:40,894,171...40,907,106
JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24894820 NCBI chr10:63,154,784...63,174,814
Ensembl chr10:63,154,784...63,217,483
JBrowse link
G Sting1 stimulator of interferon response cGAMP interactor 1 IMP RGD PMID:29263110 RGD:39128230 NCBI chr18:35,866,731...35,873,607
Ensembl chr18:35,866,732...35,873,607
JBrowse link
G Tlr2 toll-like receptor 2 IMP RGD PMID:19956717 RGD:4145321 NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
JBrowse link
G Tnf tumor necrosis factor IMP
IEP
associated with influenza;protein:increased expression:lung RGD PMID:9032201 PMID:17348295 RGD:4143479, RGD:4145366 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
JBrowse link
G Trem1 triggering receptor expressed on myeloid cells 1 ameliorates IEP
IDA
RGD PMID:24752755 PMID:19596984 RGD:126928121, RGD:127229903 NCBI chr17:48,539,763...48,553,955
Ensembl chr17:48,539,796...48,553,952
JBrowse link
pulmonary tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP-binding cassette, sub-family B member 1A treatment ISO DNA:SNP: :2677G>A (human) RGD PMID:26067842 RGD:11098541 NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575
JBrowse link
G Ada adenosine deaminase ISO protein:increased expression:plasma, respiratory system fluid/secretion
protein:increased activity:sputum:
protein:increased activity:blood, pulmonary alveolar duct
RGD PMID:12194640 PMID:19460251 PMID:2212911 RGD:5128854, RGD:152995271, RGD:152995390 NCBI chr 2:163,565,703...163,592,154
Ensembl chr 2:163,568,504...163,592,159
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:plasma RGD PMID:22022605 RGD:5686405 NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778
JBrowse link
G Akt1 thymoma viral proto-oncogene 1 susceptibility ISO DNA:SNP,haplotype:intron: IVS3+18 C/C (human) RGD PMID:20141546 RGD:38676498 NCBI chr12:112,620,260...112,641,266
Ensembl chr12:112,620,255...112,641,318
JBrowse link
G Alox5 arachidonate 5-lipoxygenase susceptibility ISO DNA:polymorphism, repeat:promoter, exon:g.760G>A (human) RGD PMID:18174194 RGD:4890411 NCBI chr 6:116,387,030...116,438,139
Ensembl chr 6:116,387,038...116,438,139
JBrowse link
G Asap1 ArfGAP with SH3 domain, ankyrin repeat and PH domain1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25774636 NCBI chr15:63,958,704...64,254,922
Ensembl chr15:63,958,706...64,254,768
JBrowse link
G Atf3 activating transcription factor 3 ISO mRNA,protein:increased expression:lung RGD PMID:20856677 RGD:34888225 NCBI chr 1:190,902,493...190,915,530
Ensembl chr 1:190,902,493...190,950,236
JBrowse link
G C3 complement component 3 ISO RGD PMID:19472039 RGD:5129500 NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
JBrowse link
G Ccl1 C-C motif chemokine ligand 1 susceptibility ISO
IEP
DNA:SNP: :multiple (human)
mRNA:increased expression:lung, dendritic cell
RGD PMID:19057661 PMID:18703681 RGD:4891408, RGD:4891409 NCBI chr11:82,067,492...82,070,638
Ensembl chr11:82,067,483...82,196,516
JBrowse link
G Ccl19 C-C motif chemokine ligand 19 IEP mRNA:increased expression:lung RGD PMID:19933855 RGD:5130906 NCBI chr 4:42,754,525...42,756,558
Ensembl chr 4:42,754,525...42,756,577
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 susceptibility ISO DNA:polymorphism: :-2518A>G (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16352737 PMID:18940815 PMID:20111728 RGD:4891439 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 susceptibility ISO DNA:snps:5' utr:g.-403G>A rs2280788, g.-28C>G rs2107538 (human)
mRNA:increased expression:lung (human)
RGD PMID:19335954 PMID:15128813 RGD:4891879, RGD:4892112 NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 disease_progression IMP RGD PMID:11438742 RGD:734715 NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO protein:decreased expression:blood, T cell (human) RGD PMID:16379602 RGD:4892094 NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736
JBrowse link
G Cd14 CD14 antigen susceptibility ISO DNA:polymorphism:promoter:c. -159C>T (human)|protein:increased expression:monocyte, serum RGD PMID:18008256 PMID:18008256 RGD:4144205, RGD:4144205 NCBI chr18:36,858,117...36,859,868
Ensembl chr18:36,858,120...36,859,851
JBrowse link
G Cd163 CD163 antigen exacerbates ISO protein:increased expression:blood plasma, CD14-positive monocyte (human)
protein:increased expression:blood serum (human)
RGD PMID:27685837 PMID:27684274 RGD:127285801, RGD:127345136 NCBI chr 6:124,281,596...124,307,488
Ensembl chr 6:124,281,615...124,307,486
JBrowse link
G Cd1d1 CD1d1 antigen susceptibility ISO DNA:SNPS, haplotype:intron, enhancer: (rs859009,rs859010, rs973742) (human) RGD PMID:30972222 RGD:127345096 NCBI chr 3:86,903,141...86,919,665
Ensembl chr 3:86,903,141...86,906,748
JBrowse link
G Cd209b CD209b antigen susceptibility IMP
ISO
DNA:repeats:exon 4: allele 4, allele 5, allele 9 (human) RGD PMID:19770268 PMID:24874302 PMID:17224292 RGD:39938983, RGD:39938981, RGD:39938987 NCBI chr 8:3,967,655...3,976,841
Ensembl chr 8:3,967,655...3,976,844
JBrowse link
G Cd209d CD209d antigen susceptibility ISO associated with HIV Seropositivity; DNA:SNP:promoter: -336A>G (rs4804803) (human) RGD PMID:19126442 RGD:39939062 NCBI chr 8:3,921,824...3,928,548
Ensembl chr 8:3,921,824...3,928,555
JBrowse link
G Cd274 CD274 antigen ISO protein:increased expression:Tcell, B cell, monocyte RGD PMID:23661793 RGD:40818418 NCBI chr19:29,339,428...29,365,495
Ensembl chr19:29,344,855...29,365,495
JBrowse link
G Cd36 CD36 molecule susceptibility ISO DNA:SNPs: :rs1194182, rs10499859(human) RGD PMID:28693442 RGD:41412192 NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799
JBrowse link
G Cd86 CD86 antigen ISO protein:decreased expression:sputum, macrophage (human) RGD PMID:17713660 RGD:4892339 NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443
JBrowse link
G Crp C-reactive protein, pentraxin-related severity ISO associated with HIV Infections RGD PMID:21219690 PMID:21197091 RGD:5131284, RGD:5131287 NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 treatment ISO RGD PMID:29843631 RGD:27095956 NCBI chr 5:92,494,497...92,496,748
Ensembl chr 5:92,494,497...92,496,748
JBrowse link
G Cxcl15 C-X-C motif chemokine ligand 15 exacerbates ISO protein:increased expression:serum (human)
RNA:increased expression:blood plasma (human)
RGD PMID:16001981 PMID:27434276 RGD:150523784 RGD:39939055 NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 disease_progression IEP RGD PMID:20454613 RGD:5135037 NCBI chr 5:91,051,758...91,053,797
Ensembl chr 5:91,051,730...91,053,797
JBrowse link
G Cxcl5 C-X-C motif chemokine ligand 5 susceptibility IEP mRNA:increased expression:lung RGD PMID:16790804 RGD:5135246 NCBI chr 5:90,907,157...90,909,484
Ensembl chr 5:90,907,219...90,909,483
JBrowse link
G Cyba cytochrome b-245, alpha polypeptide no_association ISO DNA:SNPs:exons:214C>T (rs4673), 521C>T (rs17845095) (human) RGD PMID:16608528 RGD:4780358 NCBI chr 8:123,151,510...123,159,679
Ensembl chr 8:123,151,515...123,159,669
JBrowse link
G Ddit3 DNA-damage inducible transcript 3 ISO mRNA,protein:increased expression:lung RGD PMID:20856677 RGD:34888225 NCBI chr10:127,126,662...127,132,160
Ensembl chr10:127,126,643...127,132,157
Ensembl chr10:127,126,643...127,132,157
JBrowse link
G Egfr epidermal growth factor receptor disease_progression ISO associated with lung adenocarcinoma; RGD PMID:29621876 PMID:22173705 RGD:38599162, RGD:38599176 NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158
JBrowse link
G Ereg epiregulin susceptibility ISO DNA:SNP:exon 4: (rs2367707) (human) RGD PMID:30634928 RGD:39457687 NCBI chr 5:91,222,476...91,241,508
Ensembl chr 5:91,222,481...91,241,505
JBrowse link
G Foxp3 forkhead box P3 susceptibility ISO DNA:polymorphism:promoter:-924A>G(human) RGD PMID:29020928 RGD:38501101 NCBI chr  X:7,445,915...7,461,482
Ensembl chr  X:7,439,883...7,461,484
JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO DNA:SNP:intron:rs2307058 (human) RGD PMID:28355295 RGD:18337291 NCBI chr16:70,110,837...70,366,608
Ensembl chr16:70,110,837...70,366,604
JBrowse link
G Gstm1 glutathione S-transferase, mu 1 susceptibility ISO associated with GSTT1 null deletion; DNA:deletion: : RGD PMID:20297661 RGD:4140932 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
JBrowse link
G Gstt1 glutathione S-transferase, theta 1 susceptibility ISO DNA:deletion: : RGD PMID:20297661 RGD:4140932 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 disease_progression
susceptibility
ISO DNA:polymorphisms (human)
DNA:polymorphism: :HLA-DQB1*3:03(human)
DNA:polymorphism:cds:HLA-DQB1*0201(human)
RGD PMID:19230186 PMID:28612994 PMID:24024195 RGD:5147614, RGD:36049765, RGD:36049753 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility ISO DNA:polymorphism:cds:HLA-DRB1*0201(human)
DNA:polymorphism: :HLA-DRB1*09:01(human)
RGD PMID:24024195 PMID:28612994 RGD:36049753, RGD:36049765 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
JBrowse link
G Havcr2 hepatitis A virus cellular receptor 2 ISO RGD PMID:21382414 RGD:5135524 NCBI chr11:46,345,758...46,372,082
Ensembl chr11:46,345,762...46,372,082
JBrowse link
G Ido1 indoleamine 2,3-dioxygenase 1 treatment ISO RGD PMID:32369456 RGD:39939073 NCBI chr 8:25,074,148...25,086,987
Ensembl chr 8:25,074,152...25,087,025
JBrowse link
G Il13 interleukin 13 ISO mRNA:increased expression:Leukocytes, Mononuclear RGD PMID:10608794 RGD:4145649 NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
JBrowse link
G Il15 interleukin 15 ISO mRNA, protein:increased expression:lung RGD PMID:11742275 RGD:4990461 NCBI chr 8:83,058,253...83,129,883
Ensembl chr 8:83,058,261...83,129,851
JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:serum RGD PMID:15955140 RGD:4889836 NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
JBrowse link
G Il1a interleukin 1 alpha IEP RGD PMID:9176116 RGD:4142835 NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
JBrowse link
G Il1b interleukin 1 beta severity
susceptibility
ISO protein:increased expression:lung
DNA:polymorphism: :3953T>C (human)
protein:increased expression:bronchioalveolar lavage fluid (human)
RGD PMID:10543265 PMID:16634865 PMID:10631206 RGD:4143180, RGD:5147843, RGD:4143179 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 IMP RGD PMID:28128217 RGD:39938965 NCBI chr 1:40,444,105...40,504,575
Ensembl chr 1:40,468,730...40,504,575
JBrowse link
G Il1rn interleukin 1 receptor antagonist severity ISO protein:increased expression:lung, serum RGD PMID:10543265 PMID:14619382 PMID:10631206 RGD:4143180, RGD:4143174, RGD:4143179 NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
JBrowse link
G Il23a interleukin 23, alpha subunit p19 IMP
IEP
mRNA:increased expression:lung (mouse) RGD PMID:16002675 PMID:21156751 PMID:20624887 PMID:11801672 RGD:39457949, RGD:39458038, RGD:39458036, RGD:39457953 NCBI chr10:128,132,009...128,133,953
Ensembl chr10:128,132,008...128,134,621
JBrowse link
G Il27 interleukin 27 exacerbates ISO DNA:SNPs:promoter, exon:-964A>G, 2905T>G (human)
DNA:SNPs:promoter,exons:-964A>G, 2905T>G, 4730T>C (rs153109, rs17855750, rs181206) (human)
RGD PMID:31949807 PMID:30948177 RGD:126790508, RGD:39456132 NCBI chr 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113
JBrowse link
G Il27ra interleukin 27 receptor, alpha IMP RGD PMID:15749890 RGD:5128486 NCBI chr 8:84,756,915...84,769,250
Ensembl chr 8:84,756,923...84,769,218
JBrowse link
G Il33 interleukin 33 IDA RGD PMID:28128217 RGD:39938965 NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118
JBrowse link
G Il4 interleukin 4 severity IEP RGD PMID:20832364 RGD:5128550 NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
JBrowse link
G Il4ra interleukin 4 receptor, alpha ISO protein:decreased expression:serum RGD PMID:21251883 RGD:5128510 NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646
JBrowse link
G Il6 interleukin 6 ISO RGD PMID:20624776 RGD:4143257 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
JBrowse link
G Il6ra interleukin 6 receptor, alpha ISO protein:decreased expression:T cell RGD PMID:20019339 RGD:5128632 NCBI chr 3:89,776,631...89,820,503
Ensembl chr 3:89,771,366...89,820,503
JBrowse link
G Irf1 interferon regulatory factor 1 IMP RGD PMID:11083808 RGD:5128719 NCBI chr11:53,660,841...53,669,200
Ensembl chr11:53,660,841...53,669,200
JBrowse link
G Itih4 inter alpha-trypsin inhibitor, heavy chain 4 ISO protein:increased expression:urine RGD PMID:29636444 RGD:40903003 NCBI chr14:30,608,433...30,623,943
Ensembl chr14:30,608,433...30,624,310
JBrowse link
G Jun jun proto-oncogene ISO protein:decreased phosphorylation:macrophage, nucleus RGD PMID:19737230 RGD:4889999 NCBI chr 4:94,937,273...94,940,459
Ensembl chr 4:94,937,271...94,940,459
JBrowse link
G Lcn2 lipocalin 2 exacerbates
disease_progression
IMP RGD PMID:19050270 PMID:30534124 RGD:126779558, RGD:126779565 NCBI chr 2:32,274,649...32,277,751
Ensembl chr 2:32,274,645...32,278,264
JBrowse link
G Lta lymphotoxin A susceptibility ISO DNA:polymorphism:intron:252G>A (human) RGD PMID:20180006 RGD:4143234 NCBI chr17:35,422,141...35,424,568
Ensembl chr17:35,422,141...35,424,327
JBrowse link
G Marco macrophage receptor with collagenous structure susceptibility ISO DNA:SNP: :rs12998782(human)
DNA:SNPs:introns:rs4491733,rs12998782,rs13389814,rs7559955 (human)
DNA:SNPs: :rs2278589, rs6751745,rs6748401 (human)
RGD PMID:28693442 PMID:23617307 PMID:27853145 RGD:41412192, RGD:41412195, RGD:41412194 NCBI chr 1:120,402,267...120,432,753
Ensembl chr 1:120,402,267...120,432,753
JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 ISO DNA:polymorphisms:5' utr, exon:multiple (human) RGD PMID:19199550 RGD:4889452 NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
JBrowse link
G Mif macrophage migration inhibitory factor (glycosylation-inhibiting factor) susceptibility ISO DNA:SNP: :rs755622 (human) RGD PMID:20439102 RGD:4891004 NCBI chr10:75,695,187...75,696,111
Ensembl chr10:75,695,187...75,696,074
JBrowse link
G Mir30a microRNA 30a disease_progression ISO RGD PMID:25866116 RGD:35668864 NCBI chr 1:23,311,350...23,311,420
Ensembl chr 1:23,311,350...23,311,420
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24890593 NCBI chr 9:7,445,845...7,455,975
Ensembl chr 9:7,445,822...7,455,975
JBrowse link
G Mmp7 matrix metallopeptidase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24890593 NCBI chr 9:7,692,095...7,699,587
Ensembl chr 9:7,692,091...7,699,587
JBrowse link
G Mmp8 matrix metallopeptidase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24890593 NCBI chr 9:7,558,430...7,568,487
Ensembl chr 9:7,558,457...7,568,486
JBrowse link
G Mmp9 matrix metallopeptidase 9 IMP RGD PMID:16982845 RGD:5130746 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
JBrowse link
G Nat2 N-acetyltransferase 2 (arylamine N-acetyltransferase) susceptibility ISO RGD PMID:20297661 RGD:4140932 NCBI chr 8:67,947,527...67,955,296
Ensembl chr 8:67,947,510...67,955,236
JBrowse link
G Nfkbia nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:9379002 RGD:126908014 NCBI chr12:55,536,194...55,539,432
Ensembl chr12:55,536,195...55,539,432
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 susceptibility ISO DNA:SNPs:CDs:p.P268S, R702W, A725G (human) RGD PMID:18419343 RGD:5131510 NCBI chr 8:89,373,943...89,415,103
Ensembl chr 8:89,373,943...89,415,102
JBrowse link
G Nos2 nitric oxide synthase 2, inducible ISO DNA:SNPs:multiple (human) RGD PMID:19575238 RGD:4144122 NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080
JBrowse link
G Pdcd1 programmed cell death 1 treatment ISO protein:increased expression:Tcell, B cell, monocyte RGD PMID:23661793 PMID:23661793 RGD:40818418, RGD:40818418 NCBI chr 1:93,966,027...93,980,278
Ensembl chr 1:93,966,027...93,980,278
JBrowse link
G Pdcd1lg2 programmed cell death 1 ligand 2 ISO protein:increased expression:Tcell, B cell, monocyte RGD PMID:23661793 RGD:40818418 NCBI chr19:29,388,319...29,450,327
Ensembl chr19:29,388,319...29,448,561
JBrowse link
G Plaur plasminogen activator, urokinase receptor severity ISO RGD PMID:18359089 RGD:6483832 NCBI chr 7:24,161,857...24,175,393
Ensembl chr 7:24,161,909...24,175,393
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) ISO DNA:SNPs:cds:788G>A, 1858C>T (human) RGD PMID:19563523 RGD:6484723 NCBI chr 3:103,763,891...103,819,568
Ensembl chr 3:103,767,111...103,819,563
JBrowse link
G Sftpa1 surfactant associated protein A1 susceptibility ISO DNA:SNPs:exons:307G>A, 776C>T (human)
DNA:SNP:intron:1416C>T (human)
RGD PMID:16292672 PMID:12476938 RGD:4144874, RGD:4144875 NCBI chr14:40,853,745...40,858,330
Ensembl chr14:40,853,739...40,858,409
JBrowse link
G Slc11a1 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 susceptibility ISO DNA:polymorphism:intron (human)
DNA:deletion:3'UTR:
RGD PMID:21169917 PMID:24024195 RGD:5684974, RGD:36049753 NCBI chr 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221
JBrowse link
G Tap1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) ISO associated with HIV Infections; RGD PMID:21843574 RGD:6482248 NCBI chr17:34,406,530...34,416,199
Ensembl chr17:34,406,527...34,416,199
JBrowse link
G Tap2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) susceptibility ISO DNA:polymorphism: : RGD PMID:9062973 RGD:5147851 NCBI chr17:34,423,453...34,435,295
Ensembl chr17:34,422,501...34,435,295
JBrowse link
G Tlr1 toll-like receptor 1 ISO mRNA:increased expression:blood RGD PMID:16493059 RGD:4889525 NCBI chr 5:65,082,023...65,090,945
Ensembl chr 5:65,082,022...65,090,906
JBrowse link
G Tlr2 toll-like receptor 2 susceptibility ISO DNA:polymorphism:intron (human)
DNA:polymorphisms: :multiple (human)
DNA:SNP: :rs1816702 (human)
mRNA, protein:increased expression:blood, T cell
RGD PMID:20298136 PMID:20113509 PMID:19723394 PMID:19552525 RGD:4145304, RGD:4145320, RGD:4145323, RGD:4145355 NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
JBrowse link
G Tlr4 toll-like receptor 4 severity
susceptibility
ISO DNA:polymorphisms:cds: p. D299F, T399I (human)
DNA:SNP:intron: rs5030729 (human)
protein:increased expression:monocyte
RGD PMID:20403143 PMID:19575238 PMID:18008256 RGD:4144106, RGD:4144122, RGD:4144205 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
JBrowse link
G Tlr9 toll-like receptor 9 ISO DNA:snps:multiple (human) RGD PMID:19771452 RGD:5130704 NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082
JBrowse link
G Tnf tumor necrosis factor susceptibility
disease_progression
ISO
IEP
DNA:polymorphisms::c.-857 C>T, c. -863 A>C (human) RGD PMID:20650298 PMID:18212516 PMID:9176116 RGD:4143388, RGD:4143395, RGD:4142835 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
JBrowse link
G Trem1 triggering receptor expressed on myeloid cells 1 disease_progression ISO RGD PMID:29844416 RGD:126925977 NCBI chr17:48,539,763...48,553,955
Ensembl chr17:48,539,796...48,553,952
JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor susceptibility ISO DNA:SNP (human)
DNA:SNPs:5' UTR (human)
DNA:SNPs:promoter, 3' UTR (human)
DNA:SNPs (human)
RGD PMID:17236578 PMID:20231985 PMID:18397302 PMID:18231846 PMID:15295697 RGD:4889849, RGD:4889830, RGD:4889842, RGD:4889845, RGD:4889853 NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511
JBrowse link
renal tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il4ra interleukin 4 receptor, alpha ISO protein:decreased expression:serum
DNA:polymorphism:cds:p.I50V (human)
RGD PMID:21251883 PMID:19548368 RGD:5128510, RGD:7207069 NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646
JBrowse link
rheumatic fever term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gc vitamin D binding protein ISO RGD PMID:2737695 RGD:5509933 NCBI chr 5:89,565,370...89,605,757
Ensembl chr 5:89,565,381...89,605,757
JBrowse link
G H2-Aa histocompatibility 2, class II antigen A, alpha susceptibility ISO DNA:polymorphisms, haplotypes:multiple
DNA:polymorphism: :HLA-DQA1*03 (human)
RGD PMID:17559688 PMID:15789899 RGD:5147792, RGD:127285392 NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 ISO DNA:polymorphisms, haplotypes:multiple RGD PMID:17559688 RGD:5147792 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta ISO DNA:polymorphisms, haplotypes:multiple RGD PMID:17559688 RGD:5147792 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased expression:serum RGD PMID:14567831 RGD:13702910 NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
JBrowse link
rheumatic heart disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle, aorta ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr19:34,217,736...34,232,985
Ensembl chr19:34,218,490...34,232,990
JBrowse link
G Bax BCL2-associated X protein ISO mRNA:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr 7:45,111,124...45,116,332
Ensembl chr 7:45,111,121...45,116,322
JBrowse link
G Cd36 CD36 molecule ISO mRNA:decreased expression:blood, mononuclear cell RGD PMID:16741676 RGD:6893529 NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799
JBrowse link
G Col1a1 collagen, type I, alpha 1 ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868
JBrowse link
G Col3a1 collagen, type III, alpha 1 ISO mRNA:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr 1:45,350,698...45,388,866
Ensembl chr 1:45,350,698...45,388,866
JBrowse link
G Fcna ficolin A ISO ClinVar Annotator: match by term: Rheumatic heart disease ClinVar NCBI chr 2:25,514,677...25,525,448
Ensembl chr 2:25,514,678...25,518,042
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO RGD PMID:26823728 RGD:13792679 NCBI chr 6:125,138,812...125,143,450
Ensembl chr 6:125,138,678...125,143,430
JBrowse link
G H2-Aa histocompatibility 2, class II antigen A, alpha susceptibility ISO 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 chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 ISO DNA:polymorphisms:cds:HLA-DQB1*08 (human) RGD PMID:17578051 RGD:5147630 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility ISO DNA:polymorphism (human)
DNA:polymorphism:cds:HLA-DRB1*13 (human)
RGD PMID:17578051 PMID:16426242 RGD:5147630, RGD:5147643 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
JBrowse link
G Igf1 insulin-like growth factor 1 ISO RGD PMID:16406300 RGD:1582623 NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904
JBrowse link
G Il10 interleukin 10 no_association ISO RGD PMID:16043936 RGD:1598626 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
JBrowse link
G Inhba inhibin beta-A ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr13:16,178,841...16,206,194
Ensembl chr13:16,186,436...16,206,206
JBrowse link
G Lef1 lymphoid enhancer binding factor 1 ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr 3:130,903,972...131,018,006
Ensembl chr 3:130,904,120...131,018,005
JBrowse link
G Mir155 microRNA 155 ISO RGD PMID:31894293 RGD:151347417 NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:16406300 RGD:1582623 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
JBrowse link
G Snai1 snail family zinc finger 1 ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr 2:167,380,115...167,384,734
Ensembl chr 2:167,380,115...167,384,734
JBrowse link
G Socs1 suppressor of cytokine signaling 1 treatment ISO RGD PMID:31894293 RGD:151347417 NCBI chr16:10,601,672...10,603,400
Ensembl chr16:10,600,104...10,603,400
JBrowse link
G Twist1 twist basic helix-loop-helix transcription factor 1 ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr12:34,007,670...34,009,830
Ensembl chr12:34,007,670...34,009,828
JBrowse link
G Zeb1 zinc finger E-box binding homeobox 1 ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr18:5,591,330...5,775,468
Ensembl chr18:5,591,860...5,775,467
JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr 2:44,873,523...45,007,378
Ensembl chr 2:44,873,644...45,007,407
JBrowse link
rheumatic myocarditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsn gelsolin ISO protein:decreased expression:blood plasma (human) RGD PMID:25403731 RGD:329333026 NCBI chr 2:35,146,371...35,197,914
Ensembl chr 2:35,146,392...35,197,904
JBrowse link
G Icam1 intercellular adhesion molecule 1 severity ISO protein:increased expression:serum RGD PMID:22987107 RGD:13702907 NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
JBrowse link
G Sele selectin, endothelial cell severity ISO protein:increased expression:serum RGD PMID:22987107 RGD:13702907 NCBI chr 1:163,867,200...163,886,056
Ensembl chr 1:163,875,773...163,885,246
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 severity ISO protein:increased expression:serum RGD PMID:22987107 RGD:13702907 NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337
JBrowse link
Silicotuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sting1 stimulator of interferon response cGAMP interactor 1 severity IMP RGD PMID:31141689 RGD:39128194 NCBI chr18:35,866,731...35,873,607
Ensembl chr18:35,866,732...35,873,607
JBrowse link
Spinal Tuberculoses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H2-Aa histocompatibility 2, class II antigen A, alpha susceptibility ISO DNA:missense mutation:CDS:c.592C>G (p.Q198E) (human) RGD PMID:29795056 RGD:126928140 NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
JBrowse link
Staphylococcal Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO CTD Direct Evidence: marker/mechanism CTD PMID:8186310 NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
JBrowse link
G Cd163 CD163 antigen exacerbates IMP RGD PMID:32199911 RGD:127285678 NCBI chr 6:124,281,596...124,307,488
Ensembl chr 6:124,281,615...124,307,486
JBrowse link
G Cd36 CD36 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:15690042 NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799
JBrowse link
G Csf3 colony stimulating factor 3 (granulocyte) ISO CTD Direct Evidence: therapeutic CTD PMID:27737899 NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455
JBrowse link
G Cxcl15 C-X-C motif chemokine ligand 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23661603 NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:23993644 RGD:7364979 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
JBrowse link
G Il2 interleukin 2 IEP RGD PMID:21603642 RGD:5147906 NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
JBrowse link
G Il4 interleukin 4 susceptibility ISO DNA:SNP:promoter:-542C>T (human) RGD PMID:18422436 RGD:7829791 NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
JBrowse link
G Irak3 interleukin-1 receptor-associated kinase 3 treatment IEP RGD PMID:28954388 RGD:34888230 NCBI chr10:119,977,553...120,038,035
Ensembl chr10:119,977,553...120,038,035
JBrowse link
G Ltf lactotransferrin ISO RGD PMID:10030017 RGD:7243953 NCBI chr 9:110,848,360...110,871,834
Ensembl chr 9:110,848,339...110,871,835
JBrowse link
G Stat2 signal transducer and activator of transcription 2 ameliorates IMP associated with influenza A RGD PMID:30337919 RGD:41789626 NCBI chr10:128,106,367...128,128,722
Ensembl chr10:128,106,428...128,128,718
JBrowse link
G Tlr2 toll-like receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23661603 NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
JBrowse link
G Xrn1 5'-3' exoribonuclease 1 susceptibility ISO DNA:snp:intron:c.2339+1477G>A (rs7643377) (human) RGD PMID:24847357 RGD:11530009 NCBI chr 9:95,836,803...95,939,859
Ensembl chr 9:95,836,813...95,939,856
JBrowse link
Staphylococcal Pneumonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 thymoma viral proto-oncogene 1 treatment IMP RGD PMID:23613163 RGD:38676477 NCBI chr12:112,620,260...112,641,266
Ensembl chr12:112,620,255...112,641,318
JBrowse link
G Cd86 CD86 antigen IEP protein:decreased expression:spleen, plasmacytoid dendritic cell (mouse) RGD PMID:20949109 RGD:4892562 NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443
JBrowse link
G Cftr cystic fibrosis transmembrane conductance regulator IMP RGD PMID:28289144 RGD:36049750 NCBI chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767
JBrowse link
G Csf3 colony stimulating factor 3 (granulocyte) treatment ISO RGD PMID:10228098 RGD:11039478 NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455
JBrowse link
G Fn1 fibronectin 1 ISO RGD PMID:12065530 RGD:7205474 NCBI chr 1:71,624,632...71,692,439
Ensembl chr 1:71,624,679...71,692,359
JBrowse link
G Ifnar1 interferon (alpha and beta) receptor 1 susceptibility IMP RGD PMID:19603548 RGD:5490273 NCBI chr16:91,281,016...91,307,411
Ensembl chr16:91,282,126...91,304,329
JBrowse link
G Il10 interleukin 10 IEP mRNA, protein:increased expression:lung RGD PMID:22940620 RGD:7364825 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
JBrowse link
G Il15 interleukin 15 IMP RGD PMID:18390740 RGD:4996474 NCBI chr 8:83,058,253...83,129,883
Ensembl chr 8:83,058,261...83,129,851
JBrowse link
G Il1b interleukin 1 beta IGI RGD PMID:20065029 RGD:4142828 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
JBrowse link
G Il33 interleukin 33 IEP mRNA:increased expression:lung: RGD PMID:28401938 RGD:40400699 NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 IMP RGD PMID:20493961 RGD:5131444 NCBI chr 8:89,373,943...89,415,103
Ensembl chr 8:89,373,943...89,415,102
JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase IEP protein:increased expression:lung (mouse) RGD PMID:28663335 RGD:13432209 NCBI chr17:11,059,227...12,282,257
Ensembl chr17:11,059,271...12,282,248
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 severity IEP
IMP
mRNA:increased expression:lung
associated with influenza
RGD PMID:31782850 PMID:31782850 RGD:39131288, RGD:39131288 NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460
JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 treatment IEP RGD PMID:25445964 RGD:127229910 NCBI chr14:56,022,452...56,026,314
Ensembl chr14:56,022,452...56,026,322
JBrowse link
G Sftpb surfactant associated protein B ameliorates ISO RGD PMID:20007532 RGD:151667448 NCBI chr 6:72,281,594...72,291,354
Ensembl chr 6:72,281,594...72,291,354
JBrowse link
Staphylococcal Skin Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il17a interleukin 17A IMP RGD PMID:24614654 RGD:9068425 NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
JBrowse link
G Il18 interleukin 18 treatment IDA RGD PMID:21536791 RGD:8655921 NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
JBrowse link
G Il33 interleukin 33 treatment IEP
IDA
mRNA,protein:increased expression:skin RGD PMID:23892028 PMID:23892028 RGD:40400893, RGD:40400893 NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118
JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 ameliorates IMP RGD PMID:27524612 RGD:127229915 NCBI chr14:56,022,452...56,026,314
Ensembl chr14:56,022,452...56,026,322
JBrowse link
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 severity IMP RGD PMID:25515118 RGD:36174009 NCBI chr11:75,300,855...75,313,449
Ensembl chr11:75,300,595...75,313,527
JBrowse link
Streptococcal Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd86 CD86 antigen IEP associated with Encephalomyelitis, Experimental Autoimmune; protein:increased expression:spleen, dendritic cell (mouse) RGD PMID:16861672 RGD:4892553 NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443
JBrowse link
G Il17a interleukin 17A IEP protein:increased expression:serum (mouse) RGD PMID:22384827 RGD:8698662 NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
JBrowse link
G Lcn2 lipocalin 2 IEP mRNA,protein:increased expression:respiratory epithelium, olfactory mucosa epithelium RGD PMID:16153241 RGD:126781709 NCBI chr 2:32,274,649...32,277,751
Ensembl chr 2:32,274,645...32,278,264
JBrowse link
G Mx1 MX dynamin-like GTPase 1 ISO associated with pharyngitis;protein:increased expression:blood (human) RGD PMID:28077283 RGD:126777682 NCBI chr16:97,248,235...97,264,106
Ensembl chr16:97,248,235...97,264,107
JBrowse link
G Tlr2 toll-like receptor 2 severity IMP RGD PMID:19179417 RGD:7240559 NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
JBrowse link
G Tnf tumor necrosis factor ISO associated with Otitis Media RGD PMID:8302123 RGD:11554174 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
JBrowse link
Streptococcus pneumonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ataxia telangiectasia mutated exacerbates IMP RGD PMID:27421701 RGD:126779562 NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040
JBrowse link
G Btk Bruton agammaglobulinemia tyrosine kinase IMP RGD PMID:30873567 RGD:124715473 NCBI chr  X:133,443,083...133,484,366
Ensembl chr  X:133,443,085...133,484,319
JBrowse link
G Cd209b CD209b antigen severity IMP RGD PMID:16134084 RGD:39938986 NCBI chr 8:3,967,655...3,976,841
Ensembl chr 8:3,967,655...3,976,844
JBrowse link
G Ido1 indoleamine 2,3-dioxygenase 1 IEP mRNA:increased expression:lung (mouse) RGD PMID:20385761 RGD:39938865 NCBI chr 8:25,074,148...25,086,987
Ensembl chr 8:25,074,152...25,087,025
JBrowse link
G Ifng interferon gamma IEP protein:increased expression:lung,natural killer cell (mouse) RGD PMID:21887255 RGD:40818252 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
JBrowse link
G Il6 interleukin 6 IEP protein:increased expression:lung,natural killer cell (mouse) RGD PMID:21887255 RGD:40818252 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
JBrowse link
G Irak3 interleukin-1 receptor-associated kinase 3 severity IMP RGD PMID:22492852 RGD:35316076 NCBI chr10:119,977,553...120,038,035
Ensembl chr10:119,977,553...120,038,035
JBrowse link
G Itgb2 integrin beta 2 susceptibility IMP RGD PMID:11390487 RGD:127345090 NCBI chr10:77,366,164...77,401,542
Ensembl chr10:77,366,086...77,401,542
JBrowse link
G Lamp1 lysosomal-associated membrane protein 1 IEP protein:increased expression:lung, natural killer cell (mouse) RGD PMID:21887255 RGD:40818252 NCBI chr 8:13,209,161...13,225,338
Ensembl chr 8:13,209,161...13,225,338
JBrowse link
G Marco macrophage receptor with collagenous structure exacerbates IMP RGD PMID:15263032 RGD:41412189 NCBI chr 1:120,402,267...120,432,753
Ensembl chr 1:120,402,267...120,432,753
JBrowse link
G Ncr1 natural cytotoxicity triggering receptor 1 severity IMP RGD PMID:21887255 RGD:40818252 NCBI chr 7:4,340,714...4,348,183
Ensembl chr 7:4,340,723...4,348,163
JBrowse link
G Pdcd1 programmed cell death 1 treatment IMP RGD PMID:25624454 RGD:40818422 NCBI chr 1:93,966,027...93,980,278
Ensembl chr 1:93,966,027...93,980,278
JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta treatment IMP associated with immunodeficiency 14 RGD PMID:30093657 RGD:40890269 NCBI chr 4:149,733,625...149,787,023
Ensembl chr 4:149,733,625...149,787,028
JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma severity IMP RGD PMID:17322108 RGD:38599154 NCBI chr12:32,223,128...32,258,675
Ensembl chr12:32,223,472...32,258,658
JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 exacerbates IMP RGD PMID:33625952 RGD:127229925 NCBI chr14:56,022,452...56,026,314
Ensembl chr14:56,022,452...56,026,322
JBrowse link
G Tnf tumor necrosis factor IEP protein:increased expression:lung,natural killer cell (mouse) RGD PMID:21887255 RGD:40818252 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
JBrowse link
tuberculoid leprosy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tap2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) susceptibility ISO DNA:polymorphism: : RGD PMID:9062973 RGD:5147851 NCBI chr17:34,423,453...34,435,295
Ensembl chr17:34,422,501...34,435,295
JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511
JBrowse link
tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end product-specific receptor severity IEP RGD PMID:22698798 RGD:6767307 NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910
JBrowse link
G Btnl2 butyrophilin-like 2 susceptibility
no_association
ISO DNA:SNPs,haplotypes: : rs3763313, rs9268494, rs9268492(human) RGD PMID:20176143 PMID:17347014 RGD:9685035, RGD:9685036 NCBI chr17:34,573,763...34,588,466
Ensembl chr17:34,573,796...34,588,469
JBrowse link
G Cbs cystathionine beta-synthase severity IMP
IEP
protein:increased expression:macrophages (mouse) RGD PMID:31992699 PMID:31992699 RGD:40903052, RGD:40903052 NCBI chr17:31,831,602...31,856,170
Ensembl chr17:31,827,868...31,856,212
JBrowse link
G Ccl1 C-C motif chemokine ligand 1 susceptibility ISO DNA:SNP: :rs159294, rs210837, rs10491110 (human) RGD PMID:19057661 RGD:4891408 NCBI chr11:82,067,492...82,070,638
Ensembl chr11:82,067,483...82,196,516
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to ClinVar PMID:11500196 PMID:15466648 PMID:16352737 PMID:16596675 PMID:18940815 More... NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
JBrowse link
G Ccl4 C-C motif chemokine ligand 4 severity HEP associated with human immunodeficiency virus infectious disease;protein:increased expression:blood plasma (human) RGD PMID:31276515 RGD:41404639 NCBI chr11:83,553,410...83,555,509
Ensembl chr11:83,553,410...83,555,509
JBrowse link
G Cd209a CD209a antigen ISO RGD PMID:21454357 PMID:18167547 RGD:5131181, RGD:5131186 NCBI chr 8:3,793,395...3,798,984
Ensembl chr 8:3,793,397...3,798,984
JBrowse link
G Cd274 CD274 antigen ISO mRNA, protein:increased expression:blood, neutrophil RGD PMID:21509782 RGD:41412173 NCBI chr19:29,339,428...29,365,495
Ensembl chr19:29,344,855...29,365,495
JBrowse link
G Cd86 CD86 antigen IEP protein:increased expression:lung (mouse) RGD PMID:18292558 RGD:4892329 NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443
JBrowse link
G Cd8a CD8 subunit alpha susceptibility ISO mRNA:decreased expression:blood (human)
associated with human immunodeficiency virus infectious disease;mRNA:increased expression:whole blood (human)
RGD PMID:26725873 PMID:27553407 RGD:124715445 RGD:124715450 NCBI chr 6:71,350,411...71,356,155
Ensembl chr 6:71,350,411...71,356,157
JBrowse link
G Cebpb CCAAT/enhancer binding protein beta IEP mRNA:increased expression:lung, spleen (mouse) RGD PMID:28558034 RGD:40903038 NCBI chr 2:167,530,835...167,532,352
Ensembl chr 2:167,530,835...167,532,338
JBrowse link
G Ciita class II transactivator susceptibility IMP knockouts show increased susceptibility to infection by all available criteria including mycobacterial growth, lung damage and survival time RGD PMID:12828554 RGD:5491205 NCBI chr16:10,297,877...10,348,928
Ensembl chr16:10,297,923...10,346,282
JBrowse link
G Cish cytokine inducible SH2-containing protein susceptibility ISO ClinVar Annotator: match by term: Tuberculosis, susceptibility to ClinVar
OMIM
PMID:20484391 NCBI chr 9:107,173,858...107,179,983
Ensembl chr 9:107,173,225...107,179,983
JBrowse link
G Coro1a coronin, actin binding protein 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16040207 NCBI chr 7:126,298,946...126,303,925
Ensembl chr 7:126,298,945...126,306,959
JBrowse link
G Cxcl15 C-X-C motif chemokine ligand 15 susceptibility ISO DNA:SNP:promoter:-251A>T (human)
protein:increased expression:blood plasma, erythrocyte (human)
RGD PMID:32393145 PMID:26300588 RGD:150520198, RGD:11250849 NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO protein:increased expression:serum RGD PMID:19281538 RGD:5135308 NCBI chr 5:92,469,190...92,475,938
Ensembl chr 5:92,469,206...92,475,938
JBrowse link
G Cyp2b10 cytochrome P450, family 2, subfamily b, polypeptide 10 treatment ISO associated with human immunodeficiency virus infectious disease; ;DNA:SNP: :516G>T (rs3745274)(human) RGD PMID:30239753 RGD:41412160 NCBI chr 7:25,597,083...25,626,049
Ensembl chr 7:25,597,045...25,626,049
JBrowse link
G Cyp2b9 cytochrome P450, family 2, subfamily b, polypeptide 9 treatment ISO DNA:SNPs: :c.516G>T (rs3745274) and c.785A>G (rs2279343)(human) RGD PMID:28389387 RGD:41410886 NCBI chr 7:25,872,775...25,910,086
Ensembl chr 7:25,872,836...25,910,086
JBrowse link
G Cyp2c38 cytochrome P450, family 2, subfamily c, polypeptide 38 treatment ISO DNA:polymorphisms:: CYP2C19*17(rs12248560),CYP2C19*2 (c.681C>A; rs4244285)(human) RGD PMID:27393733 RGD:124713542 NCBI chr19:39,379,109...39,451,519
Ensembl chr19:39,378,000...39,451,519
JBrowse link
G Ereg epiregulin susceptibility ISO DNA:SNP:intron: (rs7675690) (human) RGD PMID:22170233 RGD:39457686 NCBI chr 5:91,222,476...91,241,508
Ensembl chr 5:91,222,481...91,241,505
JBrowse link
G H2-Aa histocompatibility 2, class II antigen A, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26829749 NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 susceptibility ISO associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-DQB1*05 RGD PMID:19030725 RGD:36049809 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility ISO DNA:polymorphism (human)
associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-BRB1*10
RGD PMID:21251479 PMID:19030725 PMID:17153701 RGD:5147605, RGD:36049809, RGD:5147633 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
JBrowse link
G H2-M2 histocompatibility 2, M region locus 2 susceptibility ISO associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-B41 RGD PMID:19030725 RGD:36049809 NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443
JBrowse link
G H2-Q1 histocompatibility 2, Q region locus 1 susceptibility ISO associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-A31 RGD PMID:19030725 RGD:36049809 NCBI chr17:35,539,503...35,547,118
Ensembl chr17:35,539,381...35,544,075
JBrowse link
G Has1 hyaluronan synthase 1 IEP RGD PMID:19876387 RGD:9588638 NCBI chr17:18,063,588...18,075,450
Ensembl chr17:18,063,585...18,075,467
JBrowse link
G Hp haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804
JBrowse link
G Ifng interferon gamma ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, protection against ClinVar
OMIM
PMID:10663562 PMID:11053629 PMID:12788577 PMID:18414898 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
JBrowse link
G Ifngr1 interferon gamma receptor 1 susceptibility ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, protection against | ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to OMIM
ClinVar
RGD
PMID:9389728 PMID:10192386 PMID:11583830 PMID:12516030 PMID:16195661 More... RGD:4144122 NCBI chr10:19,467,697...19,485,977
Ensembl chr10:19,467,697...19,485,977
JBrowse link
G Il12rb1 interleukin 12 receptor, beta 1 ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to ClinVar PMID:9603733 PMID:12591909 PMID:28492532 NCBI chr 8:71,261,005...71,276,186
Ensembl chr 8:71,261,093...71,274,068
JBrowse link
G Il15 interleukin 15 IEP mRNA:altered expression:lung, spleen RGD PMID:16367949 RGD:4987456 NCBI chr 8:83,058,253...83,129,883
Ensembl chr 8:83,058,261...83,129,851
JBrowse link
G Il22 interleukin 22 ISO RGD PMID:21767990 RGD:5147402 NCBI chr10:118,040,456...118,045,952
Ensembl chr10:118,040,847...118,045,952
JBrowse link
G Il22b interleukin 22B ISO RGD PMID:21767990 RGD:5147402 NCBI chr10:118,125,534...118,130,943
Ensembl chr10:118,125,534...118,130,943
JBrowse link
G Il27 interleukin 27 exacerbates ISO associated with Pleural Effusion;protein:increased expression:pleural effusion (human)
mRNA:increased expression:blood (human)
RGD PMID:26282876 PMID:25511588 RGD:11086047, RGD:126790514 NCBI chr 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113
JBrowse link
G Il33 interleukin 33 ISO associated with Pleural Effusion;protein:increased expression:pleural biopsy RGD PMID:25755791 RGD:40400701 NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118
JBrowse link
G Irak3 interleukin-1 receptor-associated kinase 3 ISO mRNA, protein:increased expression:sputum (human) RGD PMID:19535630 RGD:36049800 NCBI chr10:119,977,553...120,038,035
Ensembl chr10:119,977,553...120,038,035
JBrowse link
G Irgm1 immunity-related GTPase family M member 1 ISO OMIM NCBI chr11:48,756,072...48,762,247
Ensembl chr11:48,752,795...48,762,510
JBrowse link
G Kir3dl1 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 susceptibility ISO DNA:deletion:cds RGD PMID:23073291 RGD:38676470 NCBI chr  X:135,418,748...135,435,055
Ensembl chr  X:135,418,748...135,435,058
JBrowse link
G Klrk1 killer cell lectin-like receptor subfamily K, member 1 treatment IMP
ISO
RGD PMID:16619285 PMID:23922903 RGD:39018558, RGD:39128143 NCBI chr 6:129,587,286...129,600,863
Ensembl chr 6:129,587,286...129,600,827
JBrowse link
G Mapkapk3 mitogen-activated protein kinase-activated protein kinase 3 ISO ClinVar Annotator: match by term: Tuberculosis, susceptibility to ClinVar PMID:20484391 NCBI chr 9:107,132,125...107,167,082
Ensembl chr 9:107,132,126...107,167,076
JBrowse link
G Nfe2l2 nuclear factor, erythroid derived 2, like 2 treatment ISO DNA:SNPs,haplotype: :rs4243387,rs2001350,rs6726395(human) RGD PMID:31586142 RGD:42722614 NCBI chr 2:75,505,860...75,535,007
Ensembl chr 2:75,505,857...75,534,985
JBrowse link
G Nrg1 neuregulin 1 susceptibility ISO DNA:SNP, haplotype: (rs16879814) RGD PMID:25919455 RGD:39456091 NCBI chr 8:32,299,493...33,381,858
Ensembl chr 8:32,304,579...33,374,825
Ensembl chr 8:32,304,579...33,374,825
JBrowse link
G Pdcd1 programmed cell death 1 treatment ISO RGD PMID:27865385 RGD:41412174 NCBI chr 1:93,966,027...93,980,278
Ensembl chr 1:93,966,027...93,980,278
JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma IMP RGD PMID:30514491 RGD:38599199 NCBI chr12:32,223,128...32,258,675
Ensembl chr12:32,223,472...32,258,658
JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 exacerbates IMP RGD PMID:29892302 RGD:127229926 NCBI chr14:56,022,452...56,026,314
Ensembl chr14:56,022,452...56,026,322
JBrowse link
G Slc11a1 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 susceptibility ISO DNA:insertion, polymorphism:3' utr:p.D543N (human)
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to | ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to infection by
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
RGD
PMID:16103355 PMID:16597321 PMID:25741868 PMID:19863441 PMID:15118671 RGD:5684931, RGD:1331525 NCBI chr 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221
JBrowse link
G Sp110 Sp110 nuclear body protein ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to ClinVar
OMIM
PMID:16803959 PMID:16816019 PMID:17149599 PMID:24033266 PMID:25741868 More... NCBI chr 1:85,498,462...85,538,571
Ensembl chr 1:85,504,620...85,526,538
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:15863395 RGD:1581371 NCBI chr 5:104,582,977...104,588,919
Ensembl chr 5:104,582,984...104,588,916
JBrowse link
G Sting1 stimulator of interferon response cGAMP interactor 1 IMP RGD PMID:29791904 RGD:39128196 NCBI chr18:35,866,731...35,873,607
Ensembl chr18:35,866,732...35,873,607
JBrowse link
G Tirap toll-interleukin 1 receptor (TIR) domain-containing adaptor protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
CTD
OMIM
ClinVar
PMID:16991088 PMID:17322885 PMID:18305471 PMID:25741868 NCBI chr 9:35,095,687...35,111,587
Ensembl chr 9:35,095,847...35,111,587
JBrowse link
G Tlr1 toll-like receptor 1 susceptibility ISO DNA:snps, haplotype:cds:p.N248S, p.S602I (human) RGD PMID:18091991 RGD:7246918 NCBI chr 5:65,082,023...65,090,945
Ensembl chr 5:65,082,022...65,090,906
JBrowse link
G Tlr2 toll-like receptor 2 susceptibility ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to OMIM
ClinVar
PMID:14979495 PMID:16081826 PMID:22992740 PMID:25741868 PMID:28492532 NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
JBrowse link
G Tlr4 toll-like receptor 4 IMP RGD PMID:12218133 RGD:4144821 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
JBrowse link
G Tlr6 toll-like receptor 6 susceptibility ISO DNA:missense mutations:cds:multiple (human) RGD PMID:18091991 RGD:7246918 NCBI chr 5:65,109,373...65,128,387
Ensembl chr 5:65,109,374...65,117,440
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum RGD PMID:20537163 RGD:4143229 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
JBrowse link
G Tnfrsf1b tumor necrosis factor receptor superfamily, member 1b ISO DNA:snp:3' utr:g.*215C>T rs3397 (human) RGD PMID:20007930 RGD:5131209 NCBI chr 4:144,938,938...144,973,453
Ensembl chr 4:144,940,033...144,973,440
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G Tnfsf8 tumor necrosis factor (ligand) superfamily, member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30202016 NCBI chr 4:63,749,439...63,779,745
Ensembl chr 4:63,749,545...63,779,584
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G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor susceptibility ISO associated with HIV Infections;DNA:SNPs:3' UTR (human) RGD PMID:18712587 RGD:4889839 NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511
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Whipple disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd163 CD163 antigen ISO protein:increased expression:duodenum, macrophage (human) RGD PMID:19664628 RGD:149735573 NCBI chr 6:124,281,596...124,307,488
Ensembl chr 6:124,281,615...124,307,486
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Term paths to the root
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Term Annotations click to browse term
  disease 16178
    disease by infectious agent 2235
      Bacterial Infections and Mycoses 1085
        bacterial infectious disease 832
          Gram-Positive Bacterial Infections 403
            Actinomycetales Infections + 328
            Bacillaceae Infections + 8
            Bifidobacteriales Infections 0
            Clostridium Infections + 5
            Erysipelothrix Infections + 0
            Staphylococcal Infections + 30
            Streptococcal Infections + 96
            listeriosis + 18
paths to the root