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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
 primary_id: MESH:D016908;   RDO:0004727
For additional species annotation, visit the Alliance of Genome Resources.


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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 Icos inducible T-cell co-stimulator ISO RGD PMID:12421962 RGD:1624276 NCBI chr 9:67,748,157...67,786,808
Ensembl chr 9:67,763,897...67,785,580
JBrowse link
G Rnase3 ribonuclease A family member 3 ISO CTD Direct Evidence: therapeutic CTD PMID:21696142 NCBI chr15:28,216,744...28,217,614
Ensembl chr15:28,216,744...28,217,614
JBrowse link
G Tlr2 toll-like receptor 2 ISO RGD PMID:18354210 RGD:7240560 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
anthrax disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr2 ANTXR cell adhesion molecule 2 IDA RGD PMID:17054395 RGD:1599126 NCBI chr14:13,191,716...13,331,286
Ensembl chr14:13,192,347...13,274,978
JBrowse link
G Elane elastase, neutrophil expressed ISO protein:increased expression:plasma: RGD PMID:19049643 RGD:10450550 NCBI chr 7:12,638,320...12,640,168
Ensembl chr 7:12,638,322...12,640,232
JBrowse link
Bovine Tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il4 interleukin 4 ISO CTD Direct Evidence: therapeutic CTD PMID:17387165 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
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 member 1 susceptibility ISO ClinVar Annotator: match by OMIM:610446
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:16395392 NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
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 chr11:86,715,981...86,735,630
Ensembl chr11:86,715,981...86,735,622
JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA:increased expression:footpad: RGD PMID:21205004 RGD:7794752 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA:decreased expression:footpad: RGD PMID:21205004 RGD:7794752 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
immunodeficiency 27A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifngr1 interferon gamma receptor 1 ISO ClinVar Annotator: match by term: IFNGR1 DEFICIENCY, AUTOSOMAL RECESSIVE OMIM
ClinVar
PMID:10192386, PMID:11583830, PMID:15589309, PMID:18171304, PMID:20015550, PMID:28492532, PMID:28902581 NCBI chr 1:15,062,380...15,080,815
Ensembl chr 1:15,062,432...15,080,907
JBrowse link
immunodeficiency 31B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stat1 signal transducer and activator of transcription 1 ISO ClinVar Annotator: match by term: Mycobacterial and viral infections, susceptibility to, autosomal recessive
ClinVar Annotator: match by term: IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by OMIM:613796
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:12590259, PMID:16585605, PMID:20841510, PMID:21714643, PMID:21727188, PMID:22195034, PMID:22208278, PMID:22730530, PMID:22847544, PMID:23534974, PMID:23541320, PMID:23709754, PMID:24033266, PMID:24188975, PMID:24239102, PMID:24343863, PMID:25042743, PMID:25326637, PMID:25367169, PMID:25741868, PMID:26242301, PMID:26255980, PMID:26494717, PMID:26513235, PMID:26604104, PMID:26621323, PMID:26732859, PMID:26743090, PMID:26938784, PMID:26948078, PMID:27114460, PMID:27117246, PMID:27379765, PMID:27808400, PMID:28161409, PMID:28258222, PMID:28427548, PMID:28492532, PMID:28597685, PMID:29111217, PMID:30030262, PMID:30131873 NCBI chr 9:54,287,540...54,327,958
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
immunodeficiency 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 33, MYCOBACTERIOSIS, X-LINKED ClinVar PMID:25741868 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 33
ClinVar Annotator: match by term: Invasive pneumococcal disease, recurrent isolated, 2
ClinVar Annotator: match by term: Immunodeficiency without anhidrotic ectodermal dysplasia
ClinVar Annotator: match by term: IMMUNODEFICIENCY 33, MYCOBACTERIOSIS, X-LINKED
ClinVar Annotator: match by OMIM:300636
OMIM
ClinVar
PMID:11590134, PMID:12459250, PMID:15229184, PMID:15356572, PMID:15577852, PMID:15833888, PMID:16532398, PMID:16818673, PMID:16950813, PMID:18179816, PMID:25068423, PMID:25741868, PMID:28993958, PMID:29534156, PMID:31965418 NCBI chr  X:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748
JBrowse link
immunodeficiency 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cybb cytochrome b-245 beta chain ISO ClinVar Annotator: match by term: Atypical mycobacteriosis, familial, X-linked 2
ClinVar Annotator: match by OMIM:300645
OMIM
ClinVar
PMID:17293536, PMID:21278736, PMID:25741868, PMID:28492532 NCBI chr  X:14,578,330...14,610,049
Ensembl chr  X:14,578,264...14,612,547
JBrowse link
immunodeficiency 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Isg15 ISG15 ubiquitin-like modifier ISO ClinVar Annotator: match by OMIM:616126
ClinVar Annotator: match by term: Immunodeficiency 38 with basal ganglia calcification
ClinVar
OMIM
PMID:22859821, PMID:25307056, PMID:25741868, PMID:28492532 NCBI chr 5:173,624,862...173,629,124
Ensembl chr 5:173,624,310...173,626,248
JBrowse link
Immunodeficiency 67 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irak4 interleukin-1 receptor-associated kinase 4 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 67
ClinVar Annotator: match by term: IRAK4 deficiency
ClinVar Annotator: match by OMIM:607676
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9789052, PMID:12637671, PMID:12925671, PMID:15520784, PMID:16647421, PMID:16950813, PMID:17114497, PMID:17312103, PMID:17544092, PMID:17878374, PMID:17893200, PMID:19663824, PMID:20621347, PMID:21057262, PMID:23538514, PMID:24033266, PMID:24316379, PMID:25344726, PMID:25741868, PMID:26472314, PMID:26825884, PMID:28492532 NCBI chr 7:135,803,723...135,831,006
Ensembl chr 7:135,803,698...135,832,652
JBrowse link
G Tirap TIR domain containing adaptor protein ISO ClinVar Annotator: match by term: Invasive pneumococcal disease, protection against ClinVar PMID:16991088, PMID:17322885, PMID:18305471 NCBI chr 8:36,382,029...36,399,625
Ensembl chr 8:36,385,353...36,388,224
JBrowse link
Immunodeficiency 68 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myd88 MYD88, innate immune signal transduction adaptor ISO ClinVar Annotator: match by term: Myd88 deficiency
ClinVar Annotator: match by OMIM:612260
OMIM
ClinVar
PMID:18669862, PMID:21179087, PMID:22931316, PMID:23215570, PMID:24728327, PMID:26619011, PMID:28492532, PMID:31301515 NCBI chr 8:128,022,512...128,027,462
Ensembl chr 8:128,022,473...128,026,841
JBrowse link
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 ClinVar
OMIM
PMID:32163377 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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 ISO RGD PMID:21124994 RGD:5135283 NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
JBrowse link
G Cxcl11 C-X-C motif chemokine ligand 11 disease_progression ISO RGD PMID:21124994 RGD:5135283 NCBI chr14:17,195,395...17,198,170
Ensembl chr14:17,195,014...17,198,291
JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 disease_progression ISO RGD PMID:21124994 RGD:5135283 NCBI chr14:17,228,832...17,233,743
Ensembl chr14:17,228,856...17,234,712
JBrowse link
Latent Tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tlr1 toll-like receptor 1 ISO ClinVar Annotator: match by term: Latent Tuberculosis ClinVar NCBI chr14:45,062,662...45,065,014
Ensembl chr14:45,062,662...45,081,991
JBrowse link
lepromatous leprosy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 severity ISO protein:decreased expression:serum RGD PMID:6342123 RGD:7411735 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Cfb complement factor B severity ISO RGD PMID:6342123 RGD:7411735 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:SNP:cds:161G>A (human) RGD PMID:20650301 RGD:8694069 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Vdr vitamin D receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
leprosy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Batf3 basic leucine zipper ATF-like transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25642632 NCBI chr13:109,713,376...109,726,438
Ensembl chr13:109,713,489...109,724,863
JBrowse link
G Ccdc88b coiled-coil domain containing 88B ISO CTD Direct Evidence: marker/mechanism CTD PMID:25642632 NCBI chr 1:222,102,436...222,118,485
Ensembl chr 1:222,102,437...222,118,459
JBrowse link
G Il17a interleukin 17A severity ISO mRNA:decreased expression:epidermis (human) RGD PMID:22641009 RGD:8698644 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il23r interleukin 23 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22019778 NCBI chr 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173
JBrowse link
G Lta lymphotoxin alpha susceptibility ISO ClinVar Annotator: match by synonym: Leprosy, early-onset, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:15052269, PMID:17353895 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO DNA:polymorphisms: :multiple (human) RGD PMID:20350193 RGD:5508743 NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
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:12730996, PMID:12891670, PMID:14519684, PMID:15390068, PMID:15970950, PMID:16049031, PMID:16714300, PMID:17766365, PMID:19162522, PMID:19636047, PMID:19801972, PMID:20457763, PMID:20798600, PMID:22118943, PMID:22555654, PMID:23531835, PMID:24033266, PMID:24082139, PMID:24831986, PMID:25591737, PMID:25741868, PMID:25815004, PMID:25907632, PMID:25939424, PMID:26188007, PMID:26467025, PMID:26764160, PMID:26836416, PMID:26855076, PMID:27182553, PMID:27294386, PMID:28492532, PMID:30311386 NCBI chr 1:48,880,015...50,069,998 JBrowse link
G Rab32 RAB32, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:22019778 NCBI chr 1:4,638,663...4,653,220
Ensembl chr 1:4,637,491...4,653,210
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphisms (human) RGD PMID:20003324, PMID:19698125 RGD:5147585, RGD:5147788 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Slc11a1 solute carrier family 11 member 1 susceptibility ISO DNA:repeat:promoter (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms, haplotype (human)
CTD PMID:16597321, PMID:15755200, PMID:10608779 RGD:5684957, RGD:5684972 NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
JBrowse link
G Tlr1 toll-like receptor 1 susceptibility ISO DNA:snp:cds:p.I602S (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leprosy, protection against
ClinVar Annotator: match by OMIM:613223
CTD
OMIM
ClinVar
PMID:17475868, PMID:17548585, PMID:18461142, PMID:19456232, PMID:23105135, PMID:26729809, PMID:17548585 RGD:7246917 NCBI chr14:45,062,662...45,065,014
Ensembl chr14:45,062,662...45,081,991
JBrowse link
G Tlr2 toll-like receptor 2 susceptibility ISO DNA:polymorphisms:microsatellite,597C>T(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:246300
CTD
OMIM
ClinVar
PMID:11476982, PMID:12646604, PMID:15726416, PMID:19111445, PMID:18177245 RGD:8553055 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:SNP:promoter:−308G>A (human) RGD PMID:20650301 RGD:8694069 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25320285 NCBI chr 5:79,664,779...79,691,547
Ensembl chr 5:79,664,765...79,691,258
JBrowse link
listeriosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyld CYLD lysine 63 deubiquitinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23825949 NCBI chr19:19,264,984...19,323,817
Ensembl chr19:19,265,164...19,315,357
JBrowse link
G Il15 interleukin 15 IEP protein:increased expression:epithelial cell, intestine RGD PMID:9826341 RGD:1626618 NCBI chr19:23,542,606...23,624,366
Ensembl chr19:23,542,889...23,554,594
JBrowse link
G Il1rn interleukin 1 receptor antagonist susceptibility ISO RGD PMID:8855299 RGD:11522760 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Mt1 metallothionein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19576872 NCBI chr19:11,301,991...11,303,007
Ensembl chr17:78,793,336...78,793,724
JBrowse link
G Mt2A metallothionein 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19576872 NCBI chr19:11,307,966...11,308,740
Ensembl chr19:11,307,967...11,308,740
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16751399 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16177108, PMID:21699557 NCBI chr 5:79,664,779...79,691,547
Ensembl chr 5:79,664,765...79,691,258
JBrowse link
Meningeal Tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il4r interleukin 4 receptor ISO protein:decreased expression:serum RGD PMID:21251883 RGD:5128510 NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:10318940 RGD:10449456 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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 chr20:14,019,723...14,045,781
Ensembl chr20:14,019,723...14,025,068
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphism (human) RGD PMID:20353806 RGD:5147577 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO DNA:insertion/deletion:3' utr (human) RGD PMID:11791966 RGD:5684970 NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
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:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms (human) RGD PMID:14522182 RGD:5147828 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphism (human) RGD PMID:14522182 RGD:5147828 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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 chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Il17a interleukin 17A ISO RGD PMID:20797909 RGD:4888520 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Tnf tumor necrosis factor ISO associated with HIV Infections RGD PMID:7640175 RGD:10450731 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
Mycobacterium Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd36 CD36 molecule ISO RGD PMID:20950462 RGD:6893545 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Defb4 defensin beta 4 ISO protein:increased expression:plasma, respiratory system fluid/secretion RGD PMID:11296379 RGD:4892261 NCBI chr16:75,634,598...75,637,789
Ensembl chr16:75,634,598...75,637,789
JBrowse link
G Ifng interferon gamma IEP associated with Diabetes Mellitus, Insulin-Dependent;mRNA:increased expression:lung RGD PMID:19060451 RGD:2311490 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Ifngr1 interferon gamma receptor 1 ISO DNA: missense mutations: cds: I87T; V63G
ClinVar Annotator: match by term: Mycobacterial disease, Mendelian susceptibility to
DNA: mutation
ClinVar PMID:10192386, PMID:11583830, PMID:15589309, PMID:18171304, PMID:20015550, PMID:28492532, PMID:28902581, PMID:21266457, PMID:15589309 RGD:6480268, RGD:6480429 NCBI chr 1:15,062,380...15,080,815
Ensembl chr 1:15,062,432...15,080,907
JBrowse link
G Il22 interleukin 22 ISO RGD PMID:19864591 RGD:5147407 NCBI chr 7:61,236,037...61,240,502
Ensembl chr 7:61,236,037...61,240,502
JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO DNA:point mutation (mouse) RGD PMID:11821237 RGD:5684969 NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11452125 NCBI chr 9:54,287,540...54,327,958
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: therapeutic CTD PMID:15316035 NCBI chr 5:163,186,349...163,231,578
Ensembl chr 5:163,186,349...163,231,578
JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:15316035, PMID:18941223 NCBI chr 5:79,664,779...79,691,547
Ensembl chr 5:79,664,765...79,691,258
JBrowse link
Nontuberculous Mycobacterium Infections 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: Disseminated atypical mycobacterial infection ClinVar PMID:28492532 NCBI chr 1:15,799,753...15,828,838
Ensembl chr 1:15,782,477...15,860,624
JBrowse link
G Cftr CF transmembrane conductance regulator susceptibility ISO DNA:mutations: :
DNA:SNP:cds:rs113857788(p.Q1352H)(human)
RGD PMID:19858235, PMID:23514810, PMID:18703788 RGD:4140395, RGD:36049751, RGD:4140430 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
JBrowse link
G Ifngr1 interferon gamma receptor 1 susceptibility ISO DNA:nonsense mutation
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
ClinVar Annotator: match by term: Atypical mycobacterial infection, familial disseminated
ClinVar Annotator: match by term: IFNGR1 DEFICIENCY, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Familial Atypical Mycobacteriosis, Autosomal Recessive
ClinVar Annotator: match by OMIM:209950
CTD
ClinVar
PMID:8960473, PMID:8960475, PMID:9142806, PMID:9389728, PMID:9497247, PMID:9806040, PMID:10192386, PMID:10811850, PMID:11583830, PMID:12516030, PMID:12712974, PMID:12743658, PMID:15589309, PMID:17251453, PMID:18171304, PMID:18593809, PMID:19880337, PMID:19880857, PMID:20015550, PMID:21448974, PMID:24033266, PMID:25592983, PMID:25741868, PMID:26060819, PMID:26343451, PMID:27356097, PMID:28492532, PMID:28902581, PMID:8960473 RGD:1624283 NCBI chr 1:15,062,380...15,080,815
Ensembl chr 1:15,062,432...15,080,907
JBrowse link
G Ifngr2 interferon gamma receptor 2 ISO ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:28492532 NCBI chr11:31,694,339...31,712,611
Ensembl chr11:31,694,339...31,712,611
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 PMID:9854038 RGD:1600042 NCBI chr10:30,034,447...30,048,774
Ensembl chr10:30,038,709...30,048,085
JBrowse link
G Il12rb1 interleukin 12 receptor subunit beta 1 ISO ClinVar Annotator: match by term: Familial Atypical Mycobacteriosis, Autosomal Recessive
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
ClinVar PMID:19460324, PMID:24033266, PMID:28492532 NCBI chr16:20,370,722...20,383,576
Ensembl chr16:20,371,338...20,383,337
JBrowse link
G Il18 interleukin 18 ISO RGD PMID:21045270 RGD:4889546 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1r1 interleukin 1 receptor type 1 ISO RGD PMID:16797208 RGD:5037237 NCBI chr 9:46,962,291...47,038,139
Ensembl chr 9:46,962,288...47,036,670
JBrowse link
G Il20ra interleukin 20 receptor subunit alpha ISO ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:28492532 NCBI chr 1:15,180,328...15,222,785
Ensembl chr 1:15,180,328...15,222,785
JBrowse link
G Il22ra2 interleukin 22 receptor subunit alpha 2 ISO ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:28492532 NCBI chr 1:15,084,136...15,107,423
Ensembl chr 1:15,093,599...15,106,954
JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 ISO ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:28492532 NCBI chr 1:15,412,603...15,613,752
Ensembl chr 1:15,412,603...15,613,746
JBrowse link
G Map7 microtubule-associated protein 7 ISO ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:28492532 NCBI chr 1:15,620,665...15,748,203
Ensembl chr 1:15,620,653...15,748,203
JBrowse link
G Mtfr2 mitochondrial fission regulator 2 ISO ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:28492532 NCBI chr 1:15,834,779...15,850,424
Ensembl chr 1:15,782,477...15,860,624
JBrowse link
G Pde7b phosphodiesterase 7B ISO ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:28492532 NCBI chr 1:15,889,845...16,203,909
Ensembl chr 1:15,893,533...16,203,909
JBrowse link
G Pex7 peroxisomal biogenesis factor 7 ISO ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:28492532 NCBI chr 1:15,311,768...15,374,702
Ensembl chr 1:15,311,770...15,374,850
JBrowse link
G Slc35d3 solute carrier family 35, member D3 ISO ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:28492532 NCBI chr 1:15,298,526...15,301,998
Ensembl chr 1:15,298,526...15,301,998
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 PMID:11452125 RGD:1600087 NCBI chr 9:54,287,540...54,327,958
Ensembl chr 9:54,287,541...54,484,533
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 chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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 chr10:89,251,370...89,259,313
Ensembl chr10:89,251,370...89,259,313
JBrowse link
G C1r complement C1r ISO CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chr 4:157,126,060...157,136,825
Ensembl chr 4:157,125,998...157,136,829
JBrowse link
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G F2 coagulation factor II ISO CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G Gsn gelsolin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chr 3:14,456,106...14,508,922
Ensembl chr 3:14,467,330...14,508,911
JBrowse link
G Tf transferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chr 8:111,694,570...111,721,275
Ensembl chr 8:111,673,547...111,721,333
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 chr20:14,019,723...14,045,781
Ensembl chr20:14,019,723...14,025,068
JBrowse link
pleural tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl22 C-C motif chemokine ligand 22 ISO RGD PMID:20337996 RGD:4891473 NCBI chr19:10,674,189...10,681,145
Ensembl chr19:10,674,189...10,681,145
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO RGD PMID:19159432 RGD:4145106
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 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
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:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
JBrowse link
G Il1b interleukin 1 beta ISO DNA:polymorphism: :3953T>C (human) RGD PMID:10377182 RGD:4143226 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO DNA:repeat (human) RGD PMID:10377182 RGD:4143226 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:pleura: RGD PMID:18715875 RGD:5129700 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Tlr4 toll-like receptor 4 ISO RGD PMID:18295348 RGD:4144193 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tnc tenascin C ISO protein:increased expression:pleura RGD PMID:10950882 RGD:4889594 NCBI chr 5:79,789,686...79,874,555
Ensembl chr 5:79,789,671...79,874,671
JBrowse link
Pneumococcal Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il17a interleukin 17A susceptibility ISO associated with Bronchiolitis;DNA:SNP:promoter:rs2275913 (human) RGD PMID:20437253 RGD:4889139 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Tirap TIR domain containing adaptor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:17322885 NCBI chr 8:36,382,029...36,399,625
Ensembl chr 8:36,385,353...36,388,224
JBrowse link
G Tlr9 toll-like receptor 9 ISO RGD PMID:17004992 RGD:5130710 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
Pneumococcal Meningitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam17 ADAM metallopeptidase domain 17 treatment IMP RGD PMID:24491581 RGD:13703038 NCBI chr 6:43,400,525...43,448,280
Ensembl chr 6:43,400,528...43,448,280
JBrowse link
G Aqp4 aquaporin 4 treatment ISO protein:increased expression:brain: RGD PMID:15695511, PMID:15695511 RGD:8698660, RGD:8698660 NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
JBrowse link
G Camp cathelicidin antimicrobial peptide IEP protein:increased expression:brain, coronal section (rat) RGD PMID:19879657 RGD:2316237 NCBI chr 8:117,930,557...117,932,371
Ensembl chr 8:117,930,546...117,932,518
JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 IEP RGD PMID:21109308 RGD:5134982 NCBI chr14:18,743,678...18,745,457
Ensembl chr14:18,743,685...18,745,457
JBrowse link
G Il6 interleukin 6 treatment IEP
IDA
IMP
protein:increased expression:brain RGD PMID:25443778, PMID:8943431, PMID:11581077 RGD:9831197, RGD:11062107, RGD:11060264 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Lgals3 galectin 3 IEP mRNA, protein:increased expression:brain RGD PMID:17706429 RGD:9685206 NCBI chr15:24,153,602...24,165,537
Ensembl chr15:24,141,651...24,165,537
JBrowse link
G Lgals9 galectin 9 IEP RGD PMID:17706429 RGD:9685206 NCBI chr10:64,737,022...64,760,195
Ensembl chr10:64,737,022...64,760,201
JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment IMP RGD PMID:24419461 RGD:8657111 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment IEP
IMP
protein:increased expression:cerebrospinal fluid RGD PMID:17371820, PMID:24419461 RGD:1642043, RGD:8657111 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO mRNA, protein:increased expression:brain RGD PMID:25443778 RGD:9831197 NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 IEP mRNA:increased expression:brain RGD PMID:21603940 RGD:5684913 NCBI chr17:5,934,651...6,245,778
Ensembl chr17:5,933,729...6,244,676
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit IEP protein:increased expression:brain, nucleus RGD PMID:25443778 RGD:9831197 NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
JBrowse link
G Serping1 serpin family G member 1 treatment ISO RGD PMID:17538891 RGD:8661645 NCBI chr 3:72,161,230...72,171,109
Ensembl chr 3:72,161,189...72,171,078
JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA:increased expression: : RGD PMID:12781911 RGD:7794740 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA:increased expression: : RGD PMID:12781911 RGD:7794740 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tlr9 toll-like receptor 9 ISO mRNA:increased expression: : RGD PMID:12781911 RGD:7794740 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
G Tnf tumor necrosis factor IEP protein:increased expression:brain RGD PMID:25443778 RGD:9831197 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
Pneumococcal Pneumonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation-induced cytidine deaminase ISO RGD PMID:26456931 RGD:11098923 NCBI chr 4:155,359,909...155,371,104
Ensembl chr 4:155,359,921...155,369,671
JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO RGD PMID:20231413 RGD:4890435 NCBI chr 4:148,398,004...148,446,308
Ensembl chr 4:148,398,892...148,446,303
JBrowse link
G C3 complement C3 disease_progression ISO
IEP
protein:decreased expression:serum
associated with Liver Cirrhosis, Experimental;protein:decreased expression:respiratory system fluid/secretion
RGD PMID:20405, PMID:17956621, PMID:15972516 RGD:5130163, RGD:5129523, RGD:5129509 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G C5 complement C5 severity ISO RGD PMID:7814608 RGD:5130159 NCBI chr 3:14,049,993...14,113,931
NCBI chr 3:14,206,466...14,229,141
Ensembl chr 3:14,049,995...14,229,080
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 susceptibility ISO RGD PMID:16455992 RGD:4892130 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Cd14 CD14 molecule ISO RGD PMID:17185649 RGD:4144788 NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
JBrowse link
G Chi3l1 chitinase 3 like 1 ISO protein:increased secretion:serum (human) RGD PMID:10515841 RGD:4892626 NCBI chr13:51,022,844...51,030,797
Ensembl chr13:51,022,681...51,030,802
JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 ISO RGD PMID:21774994 RGD:5147472 NCBI chr10:92,191,473...92,233,662
Ensembl chr10:92,191,718...92,232,645
JBrowse link
G Crhr2 corticotropin releasing hormone receptor 2 ISO RGD PMID:21774994 RGD:5147472 NCBI chr 4:85,286,371...85,329,374
Ensembl chr 4:85,286,372...85,329,362
JBrowse link
G Crp C-reactive protein disease_progression ISO RGD PMID:21281676 RGD:5131293 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:20958976 RGD:5134957 NCBI chr14:18,743,678...18,745,457
Ensembl chr14:18,743,685...18,745,457
JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO protein:increased expression:lung RGD PMID:20381636 RGD:5135285 NCBI chr14:17,228,832...17,233,743
Ensembl chr14:17,228,856...17,234,712
JBrowse link
G Defb4 defensin beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24894820 NCBI chr16:75,634,598...75,637,789
Ensembl chr16:75,634,598...75,637,789
JBrowse link
G Hmox1 heme oxygenase 1 ISO associated with influenza;protein:increased expression:lung RGD PMID:17348295 RGD:4145366 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Hp haptoglobin ISO RGD PMID:19396720 RGD:5147385 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Il15 interleukin 15 ISO protein:increased expression:alveolar macrophage, bronchial epithelial cell RGD PMID:17611121 RGD:5000755 NCBI chr19:23,542,606...23,624,366
Ensembl chr19:23,542,889...23,554,594
JBrowse link
G Il15ra interleukin 15 receptor subunit alpha ISO RGD PMID:17611121 RGD:5000755 NCBI chr17:70,451,861...70,481,838
Ensembl chr17:70,451,411...70,481,750
JBrowse link
G Il17a interleukin 17A ISO RGD PMID:19995896 RGD:4888531 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il18 interleukin 18 ISO RGD PMID:15770015 RGD:4889960 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il6 interleukin 6 ISO RGD PMID:20643849 RGD:4143255 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Lep leptin ISO RGD PMID:17822444 RGD:5128869 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Lepr leptin receptor ISO RGD PMID:21148797 RGD:5128846 NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24894820 NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24894820 NCBI chr 1:198,192,773...198,198,975
Ensembl chr 1:198,192,773...198,198,975
JBrowse link
G Masp2 mannan-binding lectin serine peptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12904520 NCBI chr 5:165,415,105...165,429,857
Ensembl chr 5:165,415,136...165,430,054
JBrowse link
G Mbl2 mannose binding lectin 2 no_association ISO DNA:mutations:5' utr, exon:multiple (human)
DNA:polymorphisms:5' utr, exon:multiple (human)
RGD PMID:18641104, PMID:12047967 RGD:4889477, RGD:4889478 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Nos2 nitric oxide synthase 2 ISO RGD PMID:17056580 RGD:4891950 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Sftpd surfactant protein D severity ISO RGD PMID:16255775 RGD:4143519 NCBI chr16:18,753,535...18,766,100
Ensembl chr16:18,745,458...18,766,174
JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24894820 NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
JBrowse link
G Tlr2 toll-like receptor 2 ISO RGD PMID:19956717 RGD:4145321 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tnf tumor necrosis factor ISO associated with influenza;protein:increased expression:lung RGD PMID:9032201, PMID:17348295 RGD:4143479, RGD:4145366 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
Pneumonia, Staphylococcal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd86 CD86 molecule ISO protein:decreased expression:spleen, plasmacytoid dendritic cell (mouse) RGD PMID:20949109 RGD:4892562 NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
JBrowse link
G Cftr CF transmembrane conductance regulator ISO RGD PMID:28289144 RGD:36049750 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
JBrowse link
G Csf3 colony stimulating factor 3 treatment ISO RGD PMID:10228098 RGD:11039478 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
JBrowse link
G Fn1 fibronectin 1 IDA RGD PMID:12065530 RGD:7205474 NCBI chr 9:78,900,111...78,969,018
Ensembl chr 9:78,900,103...78,969,078
JBrowse link
G Ifnar1 interferon alpha and beta receptor subunit 1 susceptibility ISO RGD PMID:19603548, PMID:19603548 RGD:5490273, RGD:5490273 NCBI chr11:31,640,407...31,666,839
Ensembl chr11:31,640,407...31,664,061
JBrowse link
G Il10 interleukin 10 ISO mRNA, protein:increased expression:lung RGD PMID:22940620 RGD:7364825 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il15 interleukin 15 ISO RGD PMID:18390740 RGD:4996474 NCBI chr19:23,542,606...23,624,366
Ensembl chr19:23,542,889...23,554,594
JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:20065029 RGD:4142828 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO RGD PMID:20493961 RGD:5131444 NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO protein:increased expression:lung (mouse) RGD PMID:28663335 RGD:13432209 NCBI chr 1:48,880,015...50,069,998 JBrowse link
pulmonary tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO protein:increased expression:plasma, respiratory system fluid/secretion RGD PMID:12194640 RGD:5128854 NCBI chr 3:160,115,840...160,139,947
Ensembl chr 3:160,115,842...160,139,947
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:plasma RGD PMID:22022605 RGD:5686405 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
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 4:148,398,004...148,446,308
Ensembl chr 4:148,398,892...148,446,303
JBrowse link
G Asap1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25774636 NCBI chr 7:104,670,076...104,951,090
Ensembl chr 7:104,669,672...104,801,045
JBrowse link
G Atf3 activating transcription factor 3 ISO mRNA,protein:increased expression:lung RGD PMID:20856677 RGD:34888225 NCBI chr13:109,817,892...109,849,632
Ensembl chr13:109,817,728...109,849,632
JBrowse link
G C3 complement C3 ISO RGD PMID:19472039 RGD:5129500 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Ccl1 C-C motif chemokine ligand 1 susceptibility ISO mRNA:increased expression:lung, dendritic cell
DNA:SNP: :multiple (human)
RGD PMID:18703681, PMID:19057661 RGD:4891409, RGD:4891408 NCBI chr10:69,534,976...69,537,836
Ensembl chr10:69,534,933...69,537,882
JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO mRNA:increased expression:lung RGD PMID:19933855 RGD:5130906 NCBI chr 5:58,181,025...58,182,969
Ensembl chr 5:58,181,026...58,183,017
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 susceptibility ISO DNA:polymorphism: :-2518A>G (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:16352737, PMID:18940815, PMID:20111728 RGD:4891439 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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 chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 disease_progression ISO RGD PMID:11438742 RGD:734715
G Ccr5 C-C motif chemokine receptor 5 ISO protein:decreased expression:blood, T cell (human) RGD PMID:16379602 RGD:4892094 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cd14 CD14 molecule susceptibility ISO DNA:polymorphism:promoter:c. -159C>T (human)|protein:increased expression:monocyte, serum RGD PMID:18008256, PMID:18008256 RGD:4144205, RGD:4144205 NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
JBrowse link
G Cd209 CD209 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:16379498 NCBI chr12:2,406,879...2,413,324
Ensembl chr12:2,406,879...2,413,324
JBrowse link
G Cd86 CD86 molecule ISO protein:decreased expression:sputum, macrophage (human) RGD PMID:17713660 RGD:4892339 NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
JBrowse link
G Crp C-reactive protein severity ISO associated with HIV Infections RGD PMID:21219690, PMID:21197091 RGD:5131284, RGD:5131287 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 treatment ISO RGD PMID:29843631 RGD:27095956 NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 disease_progression ISO RGD PMID:20454613 RGD:5135037 NCBI chr14:18,731,346...18,733,391
Ensembl chr14:18,731,378...18,733,391
JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 susceptibility ISO mRNA:increased expression:lung RGD PMID:16790804 RGD:5135246 NCBI chr14:18,860,201...18,920,839
Ensembl chr14:18,860,264...18,862,407
JBrowse link
G Cyba cytochrome b-245 alpha chain no_association ISO DNA:SNPs:exons:214C>T (rs4673), 521C>T (rs17845095) (human) RGD PMID:16608528 RGD:4780358 NCBI chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876
JBrowse link
G Ddit3 DNA-damage inducible transcript 3 ISO mRNA,protein:increased expression:lung RGD PMID:20856677 RGD:34888225 NCBI chr 7:70,578,564...70,585,074
Ensembl chr 7:70,580,198...70,585,084
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 chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Foxp3 forkhead box P3 susceptibility ISO DNA:polymorphism:promoter:-924A>G(human) RGD PMID:29020928 RGD:38501101 NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO DNA:SNP:intron:rs2307058 (human) RGD PMID:28355295 RGD:18337291 NCBI chr11:7,210,169...7,485,895
Ensembl chr11:7,210,209...7,485,890
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 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO DNA:deletion: : RGD PMID:20297661 RGD:4140932 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Havcr2 hepatitis A virus cellular receptor 2 ISO RGD PMID:21382414 RGD:5135524 NCBI chr10:31,561,838...31,590,624
Ensembl chr10:31,561,895...31,588,943
JBrowse link
G Il13 interleukin 13 ISO mRNA:increased expression:Leukocytes, Mononuclear RGD PMID:10608794 RGD:4145649 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Il15 interleukin 15 ISO mRNA, protein:increased expression:lung RGD PMID:11742275 RGD:4990461 NCBI chr19:23,542,606...23,624,366
Ensembl chr19:23,542,889...23,554,594
JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:serum RGD PMID:15955140 RGD:4889836 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1a interleukin 1 alpha ISO RGD PMID:9176116 RGD:4142835 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
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 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il27ra interleukin 27 receptor subunit alpha ISO RGD PMID:15749890 RGD:5128486 NCBI chr19:25,151,835...25,163,995
Ensembl chr19:25,149,897...25,164,086
JBrowse link
G Il4 interleukin 4 severity ISO RGD PMID:20832364 RGD:5128550 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il4r interleukin 4 receptor ISO protein:decreased expression:serum RGD PMID:21251883 RGD:5128510 NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
JBrowse link
G Il6 interleukin 6 ISO RGD PMID:20624776 RGD:4143257 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Il6r interleukin 6 receptor ISO protein:decreased expression:T cell RGD PMID:20019339 RGD:5128632 NCBI chr 2:189,196,180...189,255,987
Ensembl chr 2:189,205,701...189,254,628
JBrowse link
G Irf1 interferon regulatory factor 1 ISO RGD PMID:11083808 RGD:5128719 NCBI chr10:39,109,530...39,116,532
Ensembl chr10:39,109,522...39,116,531
JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO protein:decreased phosphorylation:macrophage, nucleus RGD PMID:19737230 RGD:4889999 NCBI chr 5:114,011,184...114,014,277
Ensembl chr 5:114,011,189...114,014,277
JBrowse link
G Lta lymphotoxin alpha susceptibility ISO DNA:polymorphism:intron:252G>A (human) RGD PMID:20180006 RGD:4143234 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G Mbl2 mannose binding lectin 2 ISO DNA:polymorphisms:5' utr, exon:multiple (human) RGD PMID:19199550 RGD:4889452 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Mif macrophage migration inhibitory factor susceptibility ISO DNA:SNP: :rs755622 (human) RGD PMID:20439102 RGD:4891004 NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
JBrowse link
G Mir30a microRNA 30a disease_progression ISO RGD PMID:25866116 RGD:35668864 NCBI chr 9:29,542,635...29,542,705
Ensembl chr 9:29,542,635...29,542,705
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24890593 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
JBrowse link
G Mmp7 matrix metallopeptidase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24890593 NCBI chr 8:5,893,253...5,900,965
Ensembl chr 8:5,893,249...5,901,049
JBrowse link
G Mmp8 matrix metallopeptidase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24890593 NCBI chr 8:5,768,808...5,777,741
Ensembl chr 8:5,768,811...5,778,702
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:16982845 RGD:5130746 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Nat2 N-acetyltransferase 2 susceptibility ISO RGD PMID:20297661 RGD:4140932 NCBI chr16:23,960,709...23,991,570
Ensembl chr16:23,961,067...23,991,570
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 chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
JBrowse link
G Nos2 nitric oxide synthase 2 ISO DNA:SNPs:multiple (human) RGD PMID:19575238 RGD:4144122 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Plaur plasminogen activator, urokinase receptor severity ISO RGD PMID:18359089 RGD:6483832 NCBI chr 1:81,328,171...81,344,954
Ensembl chr 1:81,328,183...81,344,708
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 ISO DNA:SNPs:cds:788G>A, 1858C>T (human) RGD PMID:19563523 RGD:6484723 NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
JBrowse link
G RT1-Bb RT1 class II, locus Bb 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 chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 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 chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Sftpa1 surfactant 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 chr16:18,716,019...18,719,404
Ensembl chr16:18,716,019...18,719,403
JBrowse link
G Slc11a1 solute carrier family 11 member 1 susceptibility ISO DNA:polymorphism:intron (human)
DNA:deletion:3'UTR:
RGD PMID:21169917, PMID:24024195 RGD:5684974, RGD:36049753 NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member ISO associated with HIV Infections; RGD PMID:21843574 RGD:6482248 NCBI chr20:3,979,302...3,989,669
Ensembl chr20:3,979,035...3,989,669
JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:polymorphism: : RGD PMID:9062973 RGD:5147851 NCBI chr20:3,995,544...4,009,587
Ensembl chr20:3,995,544...4,009,587
JBrowse link
G Tlr1 toll-like receptor 1 ISO mRNA:increased expression:blood RGD PMID:16493059 RGD:4889525 NCBI chr14:45,062,662...45,065,014
Ensembl chr14:45,062,662...45,081,991
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 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tlr9 toll-like receptor 9 ISO DNA:snps:multiple (human) RGD PMID:19771452 RGD:5130704 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
G Tnf tumor necrosis factor susceptibility
disease_progression
ISO DNA:polymorphisms::c.-857 C>T, c. -863 A>C (human) RGD PMID:20650298, PMID:9176116, PMID:18212516 RGD:4143388, RGD:4142835, RGD:4143395 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Vdr vitamin D 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 chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
renal tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il4r interleukin 4 receptor ISO protein:decreased expression:serum
DNA:polymorphism:cds:p.I50V (human)
RGD PMID:21251883, PMID:19548368 RGD:5128510, RGD:7207069 NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
JBrowse link
rheumatic fever term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gc GC, vitamin D binding protein ISO RGD PMID:2737695 RGD:5509933 NCBI chr14:20,267,023...20,302,577
Ensembl chr14:20,266,891...20,302,581
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased expression:serum RGD PMID:14567831 RGD:13702910 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO DNA:polymorphisms, haplotypes:multiple RGD PMID:17559688 RGD:5147792 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms, haplotypes:multiple RGD PMID:17559688 RGD:5147792 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphisms, haplotypes:multiple RGD PMID:17559688 RGD:5147792 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
rheumatic heart disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd36 CD36 molecule ISO mRNA:decreased expression:blood, mononuclear cell RGD PMID:16741676 RGD:6893529 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase IEP RGD PMID:26823728 RGD:13792679 NCBI chr 4:157,676,336...157,680,322
Ensembl chr 4:157,676,595...157,679,962
JBrowse link
G Igf1 insulin-like growth factor 1 ISO RGD PMID:16406300 RGD:1582623 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Il10 interleukin 10 no_association ISO RGD PMID:16043936 RGD:1598626 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:16406300 RGD:1582623 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO DNA:polymorphisms, haplotypes:multiple RGD PMID:17559688 RGD:5147792 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms:cds:HLA-DQB1*08 (human) RGD PMID:17578051 RGD:5147630 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism (human)
DNA:polymorphism:cds:HLA-DRB1*13 (human)
RGD PMID:17578051, PMID:16426242 RGD:5147630, RGD:5147643 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
rheumatic myocarditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Icam1 intercellular adhesion molecule 1 severity ISO protein:increased expression:serum RGD PMID:22987107 RGD:13702907 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Sele selectin E severity ISO protein:increased expression:serum RGD PMID:22987107 RGD:13702907 NCBI chr13:82,355,234...82,365,323
Ensembl chr13:82,355,471...82,365,341
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 severity ISO protein:increased expression:serum RGD PMID:22987107 RGD:13702907 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
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 chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Cd36 CD36 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:15690042 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:27737899 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
JBrowse link
G Il10 interleukin 10 treatment IDA RGD PMID:23993644 RGD:7364979 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:21603642 RGD:5147906 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il4 interleukin 4 susceptibility ISO DNA:SNP:promoter:-542C>T (human) RGD PMID:18422436 RGD:7829791 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Irak3 interleukin-1 receptor-associated kinase 3 treatment ISO RGD PMID:28954388 RGD:34888230 NCBI chr 7:64,922,830...64,982,224
Ensembl chr 7:64,923,615...64,982,281
JBrowse link
G Ltf lactotransferrin ISO RGD PMID:10030017 RGD:7243953 NCBI chr 8:119,290,416...119,313,261
Ensembl chr 8:119,290,416...119,313,261
JBrowse link
G Tlr2 toll-like receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23661603 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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 8:103,774,125...103,883,563
Ensembl chr 8:103,774,358...103,878,899
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 ISO RGD PMID:24614654 RGD:9068425 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il18 interleukin 18 treatment ISO RGD PMID:21536791 RGD:8655921 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Serpinf1 serpin family F member 1 severity ISO RGD PMID:25515118 RGD:36174009 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
Streptococcal Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd86 CD86 molecule ISO associated with Encephalomyelitis, Experimental Autoimmune; protein:increased expression:spleen, dendritic cell (mouse) RGD PMID:16861672 RGD:4892553 NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:serum (mouse) RGD PMID:22384827 RGD:8698662 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Tlr2 toll-like receptor 2 severity ISO RGD PMID:19179417 RGD:7240559 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tnf tumor necrosis factor ISO associated with Otitis Media RGD PMID:8302123 RGD:11554174 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
Streptococcus pneumonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irak3 interleukin-1 receptor-associated kinase 3 severity ISO RGD PMID:22492852 RGD:35316076 NCBI chr 7:64,922,830...64,982,224
Ensembl chr 7:64,923,615...64,982,281
JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma severity ISO RGD PMID:17322108 RGD:38599154 NCBI chr 6:51,465,696...51,501,234
Ensembl chr 6:51,465,908...51,498,337
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 subfamily B member susceptibility ISO DNA:polymorphism: : RGD PMID:9062973 RGD:5147851 NCBI chr20:3,995,544...4,009,587
Ensembl chr20:3,995,544...4,009,587
JBrowse link
G Vdr vitamin D receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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 ISO RGD PMID:22698798 RGD:6767307 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
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 chr20:4,140,184...4,156,365
Ensembl chr20:4,141,878...4,154,978
JBrowse link
G Ccl1 C-C motif chemokine ligand 1 susceptibility ISO DNA:SNP: :rs159294, rs210837, rs10491110 (human) RGD PMID:19057661 RGD:4891408 NCBI chr10:69,534,976...69,537,836
Ensembl chr10:69,534,933...69,537,882
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 susceptibility ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:11500196, PMID:15466648, PMID:16352737, PMID:16596675, PMID:18940815 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Cd209 CD209 molecule susceptibility ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:15564514, PMID:15838506, PMID:16379498 NCBI chr12:2,406,879...2,413,324
Ensembl chr12:2,406,879...2,413,324
JBrowse link
G Cd209c CD209c molecule ISO RGD PMID:21454357, PMID:18167547 RGD:5131181, RGD:5131186 NCBI chr12:2,837,991...2,846,709
Ensembl chr12:2,838,128...2,843,772
JBrowse link
G Cd86 CD86 molecule ISO protein:increased expression:lung (mouse) RGD PMID:18292558 RGD:4892329 NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
JBrowse link
G Ciita class II, major histocompatibility complex, transactivator susceptibility ISO knockouts show increased susceptibility to infection by all available criteria including mycobacterial growth, lung damage and survival time (mouse) RGD PMID:12828554 RGD:5491205 NCBI chr10:5,212,621...5,260,641
Ensembl chr10:5,213,350...5,260,608
JBrowse link
G Cish cytokine inducible SH2-containing protein susceptibility ISO ClinVar Annotator: match by term: Tuberculosis, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:20484391 NCBI chr 8:116,054,547...116,059,494
Ensembl chr 8:116,054,465...116,060,723
JBrowse link
G Coro1a coronin 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16040207 NCBI chr 1:198,123,883...198,128,890
Ensembl chr 1:198,123,884...198,128,857
JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO protein:increased expression:serum RGD PMID:19281538 RGD:5135308 NCBI chr14:17,228,832...17,233,743
Ensembl chr14:17,228,856...17,234,712
JBrowse link
G Has1 hyaluronan synthase 1 ISO RGD PMID:19876387 RGD:9588638 NCBI chr 1:59,720,612...59,732,409
Ensembl chr 1:59,720,612...59,732,409
JBrowse link
G Hp haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Ifng interferon gamma susceptibility ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, protection against
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:10663562, PMID:11053629, PMID:12788577, PMID:18414898 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Ifngr1 interferon gamma receptor 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mycobacterium tuberculosis, protection against
ClinVar Annotator: match by term: Bcg infection, tuberculoid, antibiotic-responsive
CTD
OMIM
ClinVar
PMID:9389728, PMID:12516030, PMID:16690980, PMID:19488747, PMID:19575238 RGD:4144122 NCBI chr 1:15,062,380...15,080,815
Ensembl chr 1:15,062,432...15,080,907
JBrowse link
G Il15 interleukin 15 ISO mRNA:altered expression:lung, spleen RGD PMID:16367949 RGD:4987456 NCBI chr19:23,542,606...23,624,366
Ensembl chr19:23,542,889...23,554,594
JBrowse link
G Il22 interleukin 22 ISO RGD PMID:21767990 RGD:5147402 NCBI chr 7:61,236,037...61,240,502
Ensembl chr 7:61,236,037...61,240,502
JBrowse link
G Irak3 interleukin-1 receptor-associated kinase 3 ISO mRNA, protein:increased expression:sputum (human) RGD PMID:19535630 RGD:36049800 NCBI chr 7:64,922,830...64,982,224
Ensembl chr 7:64,923,615...64,982,281
JBrowse link
G Irgm immunity-related GTPase M susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr10:34,213,885...34,221,968
Ensembl chr10:34,213,936...34,221,928
JBrowse link
G LOC100364500 RT1 class I, locus CE11-like susceptibility ISO associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-A31 RGD PMID:19030725 RGD:36049809 NCBI chr20:2,704,153...2,707,111
Ensembl chr20:2,704,148...2,707,120
JBrowse link
G Mapkapk3 MAPK activated protein kinase 3 ISO ClinVar Annotator: match by term: Tuberculosis, susceptibility to ClinVar PMID:20484391 NCBI chr 8:116,012,126...116,046,012
Ensembl chr 8:116,012,121...116,045,954
JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO CTD Direct Evidence: marker/mechanism CTD PMID:26829749 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-DQB1*05 RGD PMID:19030725 RGD:36049809 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 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 chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Slc11a1 solute carrier family 11 member 1 susceptibility ISO DNA:insertion, polymorphism:3' utr:p.D543N (human)
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to infection by
ClinVar
CTD
OMIM
PMID:16103355, PMID:16597321, PMID:25741868, PMID:19863441, PMID:15118671 RGD:5684931, RGD:1331525 NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
JBrowse link
G Sp110 SP110 nuclear body protein susceptibility ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:16803959, PMID:16816019, PMID:17149599, PMID:24033266 NCBI chr 9:92,593,909...92,618,867
Ensembl chr 9:92,593,910...92,616,165
JBrowse link
G Sp140 SP140 nuclear body protein ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to ClinVar PMID:16803959, PMID:16816019, PMID:17149599 NCBI chr 9:92,618,088...92,665,431
Ensembl chr 9:92,618,352...92,665,430
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:15863395 RGD:1581371 NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
JBrowse link
G Tirap TIR domain containing adaptor protein susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mycobacterium tuberculosis, protection against
CTD
OMIM
ClinVar
PMID:16991088, PMID:17322885, PMID:18305471 NCBI chr 8:36,382,029...36,399,625
Ensembl chr 8:36,385,353...36,388,224
JBrowse link
G Tlr1 toll-like receptor 1 susceptibility ISO DNA:snps, haplotype:cds:p.N248S, p.S602I (human) RGD PMID:18091991 RGD:7246918 NCBI chr14:45,062,662...45,065,014
Ensembl chr14:45,062,662...45,081,991
JBrowse link
G Tlr2 toll-like receptor 2 susceptibility ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:14979495, PMID:16081826, PMID:22992740 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr4 toll-like receptor 4 ISO RGD PMID:12218133 RGD:4144821 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tlr6 toll-like receptor 6 susceptibility ISO DNA:missense mutations:cds:multiple (human) RGD PMID:18091991 RGD:7246918 NCBI chr14:45,024,351...45,041,188
Ensembl chr14:45,024,351...45,046,446
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum RGD PMID:20537163 RGD:4143229 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO DNA:snp:3' utr:g.*215C>T rs3397 (human) RGD PMID:20007930 RGD:5131209 NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30202016 NCBI chr 5:79,664,779...79,691,547
Ensembl chr 5:79,664,765...79,691,258
JBrowse link
G Vdr vitamin D receptor susceptibility ISO associated with HIV Infections;DNA:SNPs:3' UTR (human) RGD PMID:18712587 RGD:4889839 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    disease by infectious agent 1746
      Bacterial Infections and Mycoses 642
        bacterial infectious disease 542
          Gram-Positive Bacterial Infections 177
            Actinomycetales Infections + 128
            Bacillaceae Infections + 5
            Bifidobacteriales Infections 0
            Clostridium Infections + 0
            Erysipelothrix Infections + 0
            Staphylococcal Infections + 21
            Streptococcal Infections + 63
            listeriosis + 7
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.