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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 ICOS inducible T cell costimulator ISO RGD PMID:12421962 RGD:1624276 NCBI chr15:107,350,253...107,370,123
Ensembl chr15:107,350,203...107,370,119
JBrowse link
G LOC102163838 non-secretory ribonuclease-like ISO CTD Direct Evidence: therapeutic CTD PMID:21696142 NCBI chr 7:78,179,285...78,180,221 JBrowse link
G TLR2 toll like receptor 2 ISO RGD PMID:18354210 RGD:7240560 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
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 ISO RGD PMID:17054395 RGD:1599126 NCBI chr 8:137,728,849...137,878,336
Ensembl chr 8:137,618,616...137,878,333
JBrowse link
G ELANE elastase, neutrophil expressed ISO protein:increased expression:plasma: RGD PMID:19049643 RGD:10450550 NCBI chr 2:77,513,769...77,516,118
Ensembl chr 2:77,509,344...77,516,027
JBrowse link
G LOC110258578 interleukin-1 beta-like disease_progression ISO mRNA:decreased expression:multiple (mouse) RGD PMID:19075243 RGD:40902812
G RNASEL ribonuclease L severity ISO RGD PMID:19075243 RGD:40902812 NCBI chr 9:123,895,045...123,910,386
Ensembl chr 9:123,893,294...123,910,398
JBrowse link
G TNF tumor necrosis factor disease_progression ISO protein:decreased expression:multiple (mouse) RGD PMID:19075243 RGD:40902812 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
JBrowse link
Bovine Tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL23A interleukin 23 subunit alpha ISO RGD PMID:16923792 RGD:39457937 NCBI chr 5:21,732,416...21,733,981
Ensembl chr 5:21,732,165...21,734,267
JBrowse link
G IL4 interleukin 4 ISO CTD Direct Evidence: therapeutic CTD PMID:17387165 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
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 term: Buruli ulcer, susceptibility to OMIM
ClinVar
PMID:16395392 NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396
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 subunit alpha severity ISO RGD PMID:26455347 RGD:11097134 NCBI chr 5:21,732,416...21,733,981
Ensembl chr 5:21,732,165...21,734,267
JBrowse link
G IL33 interleukin 33 severity
treatment
ISO RGD PMID:32156806 RGD:40400894 NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
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 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915
JBrowse link
G MARCO macrophage receptor with collagenous structure exacerbates ISO RGD PMID:20810988 RGD:41412193 NCBI chr15:24,502,935...24,541,286
Ensembl chr15:24,503,108...24,541,283
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 chr14:51,384,729...51,403,997
Ensembl chr14:51,385,738...51,403,998
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO DNA:SNP:promoter:g.-251T>A (human) RGD PMID:17709521 RGD:150523787 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
JBrowse link
G TLR2 toll like receptor 2 ISO mRNA:increased expression:footpad: RGD PMID:21205004 RGD:7794752 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
JBrowse link
G TLR4 toll like receptor 4 ISO mRNA:decreased expression:footpad: RGD PMID:21205004 RGD:7794752 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
JBrowse link
extrapulmonary tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD209 CD209 molecule susceptibility ISO DNA:SNPs:promoter: -939G>A,-871A>G (rs735239) (human) RGD PMID:24874302 RGD:39938981 NCBI chr 2:71,394,414...71,397,711
Ensembl chr 2:71,394,391...71,397,968
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO protein:increased expression:serum (human) RGD PMID:16001981 RGD:39939055 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
JBrowse link
G EREG epiregulin susceptibility ISO DNA:SNP:exon 4: (rs2367707) (human) RGD PMID:30634928 RGD:39457687 NCBI chr 8:70,351,316...70,372,530
Ensembl chr 8:70,351,311...70,372,569
JBrowse link
Furunculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASIP agouti signaling protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:32937126 NCBI chr17:37,542,615...37,718,787
Ensembl chr17:37,545,474...37,718,779
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 1:261,295,711...261,372,848
Ensembl chr 1:261,307,008...261,372,848
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 susceptibility 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 chr16:4,063,037...4,097,112
Ensembl chr16:4,063,071...4,093,198
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 chr 2:134,776,122...134,783,646
Ensembl chr 2:134,776,129...134,783,801
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 chr 1:27,872,167...27,902,980
Ensembl chr 1:27,872,183...27,902,974
JBrowse link
G CARD11 caspase recruitment domain family member 11 ISO ClinVar Annotator: match by term: IFNGR1 DEFICIENCY, AUTOSOMAL RECESSIVE ClinVar PMID:25741868 NCBI chr 3:2,145,178...2,266,377
Ensembl chr 3:2,145,178...2,266,355
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 chr 1:27,037,151...27,061,095
Ensembl chr 1:27,037,165...27,061,093
JBrowse link
G IFNGR2 interferon gamma receptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr13:197,007,303...197,035,604
Ensembl chr13:197,007,303...197,035,604
JBrowse link
G IL12RB1 interleukin 12 receptor subunit beta 1 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:19460324 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:59,707,958...59,736,282
Ensembl chr 2:59,707,961...59,736,282
JBrowse link
G IL20RA interleukin 20 receptor subunit alpha ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr 1:27,137,545...27,172,341
Ensembl chr 1:27,137,558...27,172,720
JBrowse link
G IL22RA2 interleukin 22 receptor subunit alpha 2 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr 1:27,073,481...27,090,635
Ensembl chr 1:27,073,610...27,091,236
JBrowse link
G MAP3K5 mitogen-activated protein kinase kinase kinase 5 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr 1:27,380,143...27,600,500
Ensembl chr 1:27,380,142...27,600,493
JBrowse link
G MAP7 microtubule associated protein 7 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr 1:27,606,021...27,782,754
Ensembl chr 1:27,606,036...27,782,747
JBrowse link
G MTFR2 mitochondrial fission regulator 2 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr 1:27,906,162...27,998,861
Ensembl chr 1:27,908,824...28,015,101
JBrowse link
G PDE7B phosphodiesterase 7B ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr 1:27,958,261...28,425,754
Ensembl chr 1:27,958,270...28,302,666
JBrowse link
G PEX7 peroxisomal biogenesis factor 7 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr 1:27,257,872...27,346,529
Ensembl chr 1:27,257,011...27,346,515
JBrowse link
G SLC35D3 solute carrier family 35 member D3 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr 1:27,246,742...27,250,476
Ensembl chr 1:27,246,752...27,250,254
JBrowse link
immunodeficiency 31B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKAR ankyrin and armadillo repeat containing ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr15:94,276,904...94,336,484
Ensembl chr15:94,274,741...94,336,791
JBrowse link
G ASNSD1 asparagine synthetase domain containing 1 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr15:94,261,910...94,272,129
Ensembl chr15:94,266,701...94,272,119
JBrowse link
G C15H2orf88 chromosome 15 C2orf88 homolog ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr15:94,628,283...94,794,114
Ensembl chr15:94,478,021...94,791,775
JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,526,603...93,596,363
JBrowse link
G COL5A2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr15:93,611,856...93,981,131
Ensembl chr15:93,611,856...93,800,191
JBrowse link
G GLS glutaminase ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr15:95,513,414...95,606,029
Ensembl chr15:95,513,446...95,598,311
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr15:94,795,744...94,941,362
Ensembl chr15:94,792,985...94,941,266
JBrowse link
G INPP1 inositol polyphosphate-1-phosphatase ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr15:94,956,535...94,987,286
Ensembl chr15:94,956,532...94,987,279
JBrowse link
G MFSD6 major facilitator superfamily domain containing 6 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr15:95,015,281...95,102,228
Ensembl chr15:95,015,325...95,102,219
JBrowse link
G MSTN myostatin ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr15:94,623,526...94,628,440
Ensembl chr15:94,620,270...94,628,545
JBrowse link
G NAB1 NGFI-A binding protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr15:95,248,703...95,295,078
Ensembl chr15:95,248,814...95,295,081
JBrowse link
G NEMP2 nuclear envelope integral membrane protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr15:95,111,131...95,513,414
Ensembl chr15:95,097,154...95,140,478
JBrowse link
G ORMDL1 ORMDL sphingolipid biosynthesis regulator 1 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr15:94,359,784...94,377,331
Ensembl chr15:94,359,358...94,377,303
JBrowse link
G OSGEPL1 O-sialoglycoprotein endopeptidase like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr15:94,328,924...94,359,328
Ensembl chr15:94,331,064...94,351,564
JBrowse link
G PMS1 PMS1 homolog 1, mismatch repair system component ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr15:94,351,603...94,476,505
Ensembl chr15:94,351,630...94,476,506
JBrowse link
G SLC40A1 solute carrier family 40 member 1 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr15:94,140,635...94,161,793
Ensembl chr15:94,141,988...94,167,408
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 chr15:95,593,201...95,646,324
Ensembl chr15:95,593,211...95,646,260
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 chr15:95,656,206...95,764,099
Ensembl chr15:95,656,077...95,763,472
JBrowse link
G WDR75 WD repeat domain 75 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr15:93,981,054...94,026,479
Ensembl chr15:93,981,215...94,026,707
JBrowse link
immunodeficiency 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,485,076...124,501,742
Ensembl chr  X:124,485,076...124,501,741
JBrowse link
G ARHGAP4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,641,222...124,655,312
Ensembl chr  X:124,641,226...124,655,279
JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,318,874...124,357,653
Ensembl chr  X:124,301,713...124,357,653
JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,952,532...124,960,344
Ensembl chr  X:124,952,500...124,960,343
JBrowse link
G AVPR2 vasopressin receptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,638,433...124,640,969
Ensembl chr  X:124,638,523...124,640,966
JBrowse link
G BCAP31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,456,999...124,484,923
Ensembl chr  X:124,457,001...124,484,743
JBrowse link
G BGN biglycan ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,282,048...124,295,450
Ensembl chr  X:124,275,305...124,295,445
JBrowse link
G BRCC3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,383,392...125,439,082
Ensembl chr  X:125,383,414...125,439,082
JBrowse link
G CCNQ cyclin Q ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,361,003...124,370,072
Ensembl chr  X:124,361,006...124,369,867
JBrowse link
G CLIC2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,546,451...125,560,059
Ensembl chr  X:125,546,467...125,570,523
JBrowse link
G CMC4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,372,941...125,383,272
Ensembl chr  X:125,372,941...125,376,999
JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,218,928...125,228,881
Ensembl chr  X:125,218,923...125,229,525
JBrowse link
G DNASE1L1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,931,410...124,937,569
Ensembl chr  X:124,931,410...124,939,965
JBrowse link
G DUSP9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,404,852...124,414,246
Ensembl chr  X:124,409,289...124,414,212
JBrowse link
G EMD emerin ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,883,047...124,885,429
Ensembl chr  X:124,883,049...124,885,432
JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,265,330...125,350,853
Ensembl chr  X:125,229,450...125,350,853
JBrowse link
G F8A1 coagulation factor VIII-associated 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,280,978...125,282,771 JBrowse link
G FAM3A FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,015,985...125,025,119
Ensembl chr  X:125,014,714...125,025,104
JBrowse link
G FAM50A family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,967,821...124,973,487
Ensembl chr  X:124,967,510...124,973,483
JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992
JBrowse link
G FUNDC2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,354,032...125,366,029
Ensembl chr  X:125,354,021...125,372,610
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,029,150...125,041,040
JBrowse link
G GAB3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,158,148...125,209,080
Ensembl chr  X:125,158,154...125,209,035
JBrowse link
G GDI1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,960,835...124,966,833
Ensembl chr  X:124,960,990...124,966,832
JBrowse link
G H2AB1 H2A.B variant histone 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,277,575...125,280,752 JBrowse link
G H2AB2 H2A.B variant histone 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,537,401...125,540,026 JBrowse link
G HAUS7 HAUS augmin like complex subunit 7 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,234,735...124,258,133
Ensembl chr  X:124,234,736...124,258,098
JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,673,125...124,694,846
Ensembl chr  X:124,673,128...124,694,152
JBrowse link
G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,528,643...124,537,570
Ensembl chr  X:124,528,585...124,537,575
JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Immunodeficiency 33 OMIM
ClinVar
PMID:8169255 PMID:11047757 PMID:11179023 PMID:11484156 PMID:11590134 More... NCBI chr  X:125,035,575...125,056,445
Ensembl chr  X:125,036,508...125,056,453
JBrowse link
G IL9R interleukin 9 receptor ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr 3:41,581,253...41,590,485
Ensembl chr 3:41,583,693...41,594,867
JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,717,604...124,724,855
Ensembl chr  X:124,717,612...124,724,860
JBrowse link
G L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,595,649...124,618,292
Ensembl chr  X:124,595,651...124,618,307
JBrowse link
G LAGE3 L antigen family member 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,001,673...125,003,206 JBrowse link
G LOC102166335 EKC/KEOPS complex subunit LAGE3-like ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,150,593...125,152,014 JBrowse link
G LOC494564 medium-wave-sensitive opsin ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,816,014...124,828,225 JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,735,523...124,789,063
Ensembl chr  X:124,735,656...124,738,659
JBrowse link
G MPP1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,230,412...125,252,384
Ensembl chr  X:125,229,450...125,350,853
JBrowse link
G MTCP1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,372,941...125,377,910
Ensembl chr  X:125,377,350...125,381,178
JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,658,429...124,662,744
Ensembl chr  X:124,658,158...124,662,702
JBrowse link
G PDZD4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,543,845...124,567,477
Ensembl chr  X:124,544,944...124,567,369
JBrowse link
G PLXNA3 plexin A3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,982,307...124,997,098
Ensembl chr  X:124,983,943...124,997,072
JBrowse link
G PLXNB3 plexin B3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,507,953...124,522,780
Ensembl chr  X:124,509,526...124,522,767
JBrowse link
G PNCK pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,425,867...124,430,000
Ensembl chr  X:124,425,872...124,429,261
JBrowse link
G RAB39B RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,520,764...125,528,253
Ensembl chr  X:125,520,497...125,527,379
JBrowse link
G RENBP renin binding protein ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,662,957...124,670,522
Ensembl chr  X:124,662,719...124,672,235
JBrowse link
G RPL10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,927,249...124,929,791
Ensembl chr  X:124,926,772...124,929,791
JBrowse link
G SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,010,128...125,013,992
Ensembl chr  X:125,010,131...125,011,928
JBrowse link
G SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,007,121...125,009,657
Ensembl chr  X:125,007,122...125,013,980
JBrowse link
G SLC6A8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,435,282...124,452,182
Ensembl chr  X:124,294,856...124,452,182
JBrowse link
G SMIM9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,254,737...125,262,113
Ensembl chr  X:125,255,157...125,259,938
JBrowse link
G SPRY3 sprouty RTK signaling antagonist 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,744,643...125,764,342
Ensembl chr  X:125,754,671...125,763,636
JBrowse link
G SRPK3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,524,102...124,528,607
Ensembl chr  X:124,524,083...124,528,945
JBrowse link
G SSR4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,537,545...124,541,635
Ensembl chr  X:124,537,540...124,541,637
JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,940,036...124,946,275
Ensembl chr  X:124,940,031...124,946,273
JBrowse link
G TEX28 testis expressed 28 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,828,222...124,840,093
Ensembl chr  X:124,828,225...124,834,315
JBrowse link
G TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,840,072...124,867,313
Ensembl chr  X:124,839,995...124,867,614
JBrowse link
G TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,695,050...124,699,349 JBrowse link
G TMLHE trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,601,920...125,673,716
Ensembl chr  X:125,598,116...125,673,669
JBrowse link
G TREX2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,234,736...124,244,193
Ensembl chr  X:124,234,738...124,238,598
JBrowse link
G VAMP7 vesicle associated membrane protein 7 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,863,266...125,917,232
Ensembl chr  X:125,863,292...125,917,225
JBrowse link
G VBP1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,485,357...125,506,781
Ensembl chr  X:125,480,808...125,506,771
JBrowse link
immunodeficiency 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GP91-PHOX NADPH oxidase heavy chain subunit ISO ClinVar Annotator: match by term: X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency OMIM
ClinVar
PMID:8634410 PMID:8655140 PMID:8900212 PMID:8916969 PMID:9536098 More... NCBI chr  X:33,654,656...33,678,346
Ensembl chr  X:33,643,648...33,680,580
JBrowse link
immunodeficiency 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 6:63,579,291...63,593,429
Ensembl chr 6:63,579,304...63,593,435
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 6:64,664,484...64,665,774
Ensembl chr 6:64,664,641...64,665,774
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 6:63,366,017...63,398,311
Ensembl chr 6:63,365,983...63,398,309
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 6:63,678,757...63,686,409 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 6:65,026,490...65,048,545
Ensembl chr 6:65,027,442...65,048,542
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 6:63,656,120...63,657,568
Ensembl chr 6:63,656,119...63,657,472
JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 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 6:63,540,066...63,541,962
Ensembl chr 6:63,540,141...63,541,112
JBrowse link
G C1QTNF12 C1q and TNF 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 6:63,548,862...63,555,991
Ensembl chr 6:63,548,864...63,553,332
JBrowse link
G CALML6 calmodulin like 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 6:63,970,359...63,971,973 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 6:65,242,725...65,254,879
Ensembl chr 6:65,242,602...65,255,727
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 6:63,659,053...63,668,077
Ensembl chr 6:63,659,054...63,668,047
JBrowse link
G CDK11 cyclin dependent kinase 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 6:63,804,914...63,819,960 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 6:65,274,092...65,310,735
Ensembl chr 6:65,274,488...65,310,669
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 6:63,976,011...64,038,899
Ensembl chr 6:63,976,346...64,024,562
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 6:63,607,991...63,612,325 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 6:63,617,787...63,628,965
Ensembl chr 6:63,617,789...63,628,913
JBrowse link
G FAAP20 FA 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 6:64,160,760...64,169,663 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 6:63,762,059...63,765,483
Ensembl chr 6:63,764,815...63,765,483
JBrowse link
G GABRD gamma-aminobutyric acid type 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 6:64,049,665...64,059,644
Ensembl chr 6:64,049,675...64,059,640
JBrowse link
G GNB1 G protein subunit 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 6:63,867,155...63,957,514
Ensembl chr 6:63,867,158...63,952,505
JBrowse link
G HES4 hes family bHLH transcription 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 6:63,351,593...63,356,690
Ensembl chr 6:63,351,602...63,356,466
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 6:64,409,110...64,410,541
Ensembl chr 6:64,408,956...64,410,881
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 6:63,596,809...63,607,915
Ensembl chr 6:63,596,803...63,607,921
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 6:63,363,201...63,364,211
Ensembl chr 6:63,363,173...63,364,208
JBrowse link
G KLHL17 kelch like family member 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 6:63,320,898...63,328,093
Ensembl chr 6:63,322,184...63,328,259
JBrowse link
G LOC100525876 ATPase family AAA domain-containing protein 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 6:63,706,155...63,721,574
Ensembl chr 6:63,701,460...63,721,573
JBrowse link
G LOC100624218 MORN repeat-containing 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 6:64,266,184...64,300,980
Ensembl chr 6:64,253,268...64,300,897
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 6:65,261,990...65,271,745
Ensembl chr 6:65,260,793...65,271,729
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 6:65,055,533...65,141,449
Ensembl chr 6:65,053,389...65,141,380
JBrowse link
G MIB2 MIB 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 6:63,787,200...63,800,425
Ensembl chr 6:63,787,201...63,800,423
JBrowse link
G MMEL1 membrane metalloendopeptidase 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 6:64,436,778...64,470,888
Ensembl chr 6:64,436,642...64,472,759
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 6:63,801,668...63,804,275
Ensembl chr 6:63,801,965...63,805,046
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 6:63,670,750...63,675,834
Ensembl chr 6:63,670,755...63,675,839
JBrowse link
G MXRA8 matrix remodeling 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 6:63,630,936...63,635,623
Ensembl chr 6:63,630,938...63,635,456
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 6:63,846,650...63,864,137
Ensembl chr 6:63,846,655...63,863,946
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 6:63,307,703...63,320,799
Ensembl chr 6:63,307,695...63,335,201
JBrowse link
G PANK4 pantothenate kinase 4 (inactive) 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 6:64,393,092...64,407,443
Ensembl chr 6:64,393,102...64,407,448
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 6:64,311,743...64,317,693 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 6:64,325,918...64,392,070
Ensembl chr 6:64,325,952...64,392,068
JBrowse link
G PLEKHN1 pleckstrin homology domain containing N1 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 6:63,328,054...63,336,140
Ensembl chr 6:63,328,605...63,336,138
JBrowse link
G PRDM16 PR/SET domain 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 6:64,704,181...65,012,580
Ensembl chr 6:64,704,920...65,012,570
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 6:64,073,343...64,159,187
Ensembl chr 6:64,068,577...64,163,472
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 6:64,432,187...64,435,328
Ensembl chr 6:64,432,148...64,435,320
JBrowse link
G PUSL1 pseudouridine 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 6:63,593,539...63,596,921
Ensembl chr 6:63,593,959...63,599,019
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 6:64,301,139...64,311,526
Ensembl chr 6:64,301,199...64,311,783
JBrowse link
G RNF223 ring finger protein 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 6:63,413,080...63,445,277
Ensembl chr 6:63,413,086...63,414,357
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 6:63,287,449...63,308,231
Ensembl chr 6:63,287,713...63,308,482
JBrowse link
G SCNN1D sodium channel epithelial 1 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 6:63,568,171...63,578,623 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 6:63,529,853...63,539,979
Ensembl chr 6:63,529,853...63,544,944
JBrowse link
G SKI SKI proto-oncogene 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 6:64,188,265...64,242,596
Ensembl chr 6:64,188,236...64,242,560
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 6:63,820,804...63,842,400
Ensembl chr 6:63,820,812...63,835,561
JBrowse link
G SMIM1 small integral membrane protein 1 (Vel blood group) 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 6:65,255,792...65,259,129
Ensembl chr 6:65,255,823...65,259,126
JBrowse link
G SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase 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 6:63,728,318...63,757,460
Ensembl chr 6:63,728,325...63,755,163
JBrowse link
G TAS1R3 taste 1 receptor 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 6:63,613,536...63,617,831
Ensembl chr 6:63,607,990...63,617,809
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 6:63,721,655...63,727,457
Ensembl chr 6:63,721,656...63,727,526
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 6:63,969,438...63,974,312
Ensembl chr 6:63,969,440...63,974,286
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 6:63,686,542...63,689,298
Ensembl chr 6:63,686,546...63,688,456
JBrowse link
G TNFRSF18 TNF 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 6:63,516,037...63,519,323
Ensembl chr 6:63,516,045...63,518,405
JBrowse link
G TNFRSF4 TNF 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 6:63,523,850...63,526,672
Ensembl chr 6:63,523,804...63,526,666
JBrowse link
G TP73 tumor protein p73 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 6:65,169,770...65,228,997
Ensembl chr 6:65,182,456...65,228,990
JBrowse link
G TPRG1L tumor protein p63 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 6:65,150,897...65,154,311
Ensembl chr 6:65,150,903...65,154,429
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 6:64,478,117...64,499,034
Ensembl chr 6:64,478,408...64,499,986
JBrowse link
G TTLL10 tubulin tyrosine ligase like 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 6:63,494,759...63,513,884
Ensembl chr 6:63,497,597...63,511,918
JBrowse link
G UBE2J2 ubiquitin conjugating enzyme E2 J2 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 6:63,556,134...63,568,080
Ensembl chr 6:63,555,488...63,568,017
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 6:63,695,195...63,700,296
Ensembl chr 6:63,694,979...63,700,287
JBrowse link
G WRAP73 WD repeat containing, antisense to TP73 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 6:65,155,201...65,167,091
Ensembl chr 6:65,155,209...65,167,079
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 chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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 1:121,067,638...121,134,896
Ensembl chr 1:121,067,454...121,134,888
JBrowse link
Immunodeficiency 88 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBX21 T-box transcription factor 21 ISO ClinVar Annotator: match by term: Immunodeficiency 88 ClinVar
OMIM
PMID:25741868 NCBI chr12:23,996,415...24,009,353
Ensembl chr12:23,996,415...24,009,355
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 chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948
JBrowse link
G CXCL11 C-X-C motif chemokine ligand 11 disease_progression ISO RGD PMID:21124994 RGD:5135283 NCBI chr 8:71,713,790...71,725,669
Ensembl chr 8:71,713,803...71,725,674
JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 disease_progression ISO RGD PMID:21124994 RGD:5135283 NCBI chr 8:71,665,541...71,670,236
Ensembl chr 8:71,663,501...71,670,271
JBrowse link
Latent Tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 ISO mRNA, protein:increased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human) RGD PMID:29602771 RGD:41404732 NCBI chr 9:93,049,955...93,146,469 JBrowse link
G GPA33 glycoprotein A33 ISO mRNA, protein:decreased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human) RGD PMID:29602771 RGD:41404732 NCBI chr 4:83,904,651...83,943,238
Ensembl chr 4:83,904,915...83,941,563
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 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,734
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 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228
JBrowse link
G CD163 CD163 molecule exacerbates ISO protein:increased expression:blood serum (human) RGD PMID:22851198 PMID:28355218 RGD:127345133 RGD:39939078 NCBI chr 5:63,300,200...63,334,497
Ensembl chr 5:63,300,231...63,334,498
JBrowse link
G CFB complement factor B severity ISO RGD PMID:6342123 RGD:7411735 NCBI chr 7:24,034,077...24,040,523
Ensembl chr 7:24,033,740...24,041,179
JBrowse link
G IL27 interleukin 27 ameliorates ISO mRNA:decreased expression:skin of body (human) RGD PMID:26030183 RGD:126790539 NCBI chr 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915
JBrowse link
G MBL2 mannose binding lectin 2 susceptibility ISO DNA:SNP:cds:161G>A (human) RGD PMID:20650301 RGD:8694069 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
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 chr 9:130,699,092...130,711,719
Ensembl chr 9:130,699,196...130,712,358
JBrowse link
G CCDC122 coiled-coil domain containing 122 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:25741868 NCBI chr11:23,159,655...23,199,074
Ensembl chr11:23,159,470...23,198,885
JBrowse link
G CCDC88B coiled-coil domain containing 88B ISO CTD Direct Evidence: marker/mechanism CTD PMID:25642632 NCBI chr 2:7,767,924...7,784,625 JBrowse link
G CD8A CD8 subunit alpha exacerbates ISO mRNA:increased expression:blood (human) RGD PMID:31784594 RGD:124715449 NCBI chr 3:57,999,228...58,029,768
Ensembl chr 3:57,998,891...58,029,760
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 severity ISO DNA:SNP:promoter:g.-353T>A (rs4073) (human) RGD PMID:30303246 RGD:40400755 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
JBrowse link
G IL10 interleukin 10 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:28492532 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
JBrowse link
G IL17A interleukin 17A severity ISO mRNA:decreased expression:epidermis (human) RGD PMID:22641009 RGD:8698644 NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
JBrowse link
G IL19 interleukin 19 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:28492532 NCBI chr 9:67,469,519...67,479,597
Ensembl chr 9:67,469,524...67,479,813
JBrowse link
G IL23R interleukin 23 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22019778 NCBI chr 6:145,337,765...145,401,909
Ensembl chr 6:145,335,741...145,401,510
JBrowse link
G LACC1 laccase domain containing 1 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:25741868 NCBI chr11:23,143,708...23,159,790
Ensembl chr11:23,141,133...23,159,649
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 chr 5:71,800,337...71,945,828
Ensembl chr 5:71,800,225...71,945,828
JBrowse link
G LTA lymphotoxin alpha susceptibility ISO ClinVar Annotator: match by term: Leprosy, early-onset, susceptibility to OMIM
ClinVar
PMID:15052269 PMID:17353895 NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,040...23,698,299
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 chr10:44,107,926...44,226,734
Ensembl chr10:44,107,072...44,226,733
JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534
JBrowse link
G PARL presenilin associated rhomboid like ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr13:121,758,734...121,813,679
Ensembl chr13:121,758,738...121,813,638
JBrowse link
G PINK1 PTEN induced kinase 1 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr 6:78,863,195...78,884,663
Ensembl chr 6:78,863,190...78,884,640
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 chr 1:5,698,508...6,731,132
Ensembl chr 1:5,465,312...6,730,872
JBrowse link
G RAB32 RAB32, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:22019778 NCBI chr 1:19,076,301...19,097,647
Ensembl chr 1:19,075,271...19,097,870
JBrowse link
G RIPK2 receptor interacting serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr 4:47,026,558...47,075,133
Ensembl chr 4:47,027,098...47,074,704
JBrowse link
G SLC11A1 solute carrier family 11 member 1 susceptibility ISO DNA:polymorphisms, haplotype (human)
DNA:repeat:promoter (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:10608779 PMID:15755200 PMID:16597321 RGD:5684957 RGD:5684972 NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396
JBrowse link
G TLR1 toll like receptor 1 susceptibility ISO ClinVar Annotator: match by term: LPRS1 | ClinVar Annotator: match by term: Leprosy, susceptibility to, 5
DNA:snp:cds:p.I602S (human)
ClinVar
RGD
OMIM
PMID:17475868 PMID:17548585 PMID:18461142 PMID:19456232 PMID:23105135 More... RGD:7246917 NCBI chr 8:30,147,600...30,155,454
Ensembl chr 8:30,147,624...30,155,466
JBrowse link
G TLR2 toll like receptor 2 susceptibility ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 3 OMIM
ClinVar
PMID:11476982 PMID:12646604 PMID:15726416 PMID:19111445 PMID:25741868 More... NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
JBrowse link
G TLR6 toll like receptor 6 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr 8:30,159,744...30,180,650
Ensembl chr 8:30,159,754...30,180,650
JBrowse link
G TNF tumor necrosis factor susceptibility ISO DNA:SNP:promoter:−308G>A (human) RGD PMID:20650301 RGD:8694069 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
JBrowse link
G TNFSF15 TNF superfamily member 15 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr 1:255,328,731...255,349,508
Ensembl chr 1:255,328,719...255,349,539
JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25320285 NCBI chr 1:255,436,206...255,459,020
Ensembl chr 1:255,432,969...255,459,073
JBrowse link
listeriosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTK Bruton tyrosine kinase ameliorates ISO RGD PMID:23544144 RGD:124713555 NCBI chr  X:82,981,512...83,014,475
Ensembl chr  X:82,981,515...83,014,573
JBrowse link
G CD8A CD8 subunit alpha exacerbates
disease_progression
ISO protein:decreased expression:spleen, liver (mouse)
protein:increased expression:liver (mouse)
RGD PMID:2120126 PMID:20348006 RGD:124715456 RGD:124715458 NCBI chr 3:57,999,228...58,029,768
Ensembl chr 3:57,998,891...58,029,760
JBrowse link
G CEBPB CCAAT enhancer binding protein beta severity ISO RGD PMID:17911624 RGD:40903039 NCBI chr17:51,722,633...51,723,673
Ensembl chr17:51,722,426...51,724,305
JBrowse link
G CYLD CYLD lysine 63 deubiquitinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23825949 NCBI chr 6:34,058,091...34,121,939
Ensembl chr 6:34,059,081...34,121,264
JBrowse link
G IL15 interleukin 15 ISO protein:increased expression:epithelial cell, intestine RGD PMID:9826341 RGD:1626618 NCBI chr 8:85,666,963...85,740,980
Ensembl chr 8:85,667,321...85,678,461
JBrowse link
G IL17D interleukin 17D severity ISO RGD PMID:31244826 RGD:40903065 NCBI chr11:1,029,219...1,066,086
Ensembl chr11:1,029,109...1,066,085
JBrowse link
G IL1RN interleukin 1 receptor antagonist susceptibility ISO RGD PMID:8855299 RGD:11522760
G IL23A interleukin 23 subunit alpha ISO RGD PMID:19923464 PMID:22966045 RGD:39457955 RGD:39457958 NCBI chr 5:21,732,416...21,733,981
Ensembl chr 5:21,732,165...21,734,267
JBrowse link
G IL33 interleukin 33 treatment ISO RGD PMID:25577440 RGD:40400693 NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
JBrowse link
G MIR21 microRNA mir-21 exacerbates ISO RGD PMID:28589100 RGD:41404664 NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358
JBrowse link
G MT-2B metallothionein-2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19576872 NCBI chr 6:18,645,125...18,646,034
Ensembl chr 6:18,645,153...18,646,033
JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta ISO RGD PMID:26311905 RGD:40890274 NCBI chr 6:70,026,254...70,086,950
Ensembl chr 6:70,026,373...70,084,742
JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 exacerbates ISO RGD PMID:30975711 RGD:127229912 NCBI chr 7:74,951,145...74,955,255
Ensembl chr 7:74,951,145...74,955,251
JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 ISO RGD PMID:21098106 PMID:23378430 RGD:39128219 RGD:39128233 NCBI chr 2:141,359,402...141,367,222
Ensembl chr 2:141,358,993...141,367,198
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16751399 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16177108 PMID:21699557 NCBI chr 1:255,436,206...255,459,020
Ensembl chr 1:255,432,969...255,459,073
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 3:19,526,343...19,576,792
Ensembl chr 3:19,523,564...19,576,544
JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:10318940 RGD:10449456 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
JBrowse link
Multibacillary Leprosy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC11A1 solute carrier family 11 member 1 ISO DNA:insertion/deletion:3' utr (human) RGD PMID:11791966 RGD:5684970 NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396
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:43,303,777...43,328,164
Ensembl chr  X:43,303,785...43,322,968
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 chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO protein:increased expression:blood plasma, erythrocyte (human) RGD PMID:26300588 RGD:11250849 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
JBrowse link
G IL17A interleukin 17A ISO RGD PMID:20797909 RGD:4888520 NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
JBrowse link
G TNF tumor necrosis factor ISO associated with HIV Infections RGD PMID:7640175 RGD:10450731 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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 (peptidyl-dipeptidase A) 1 ISO associated with pulmonary sarcoidosis;protein:increased expression:blood serum (human) RGD PMID:15881283 RGD:40818305 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703
JBrowse link
G CD36 CD36 molecule ISO RGD PMID:20950462 RGD:6893545 NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105
JBrowse link
G DEFB1 defensin, beta 1 ISO protein:increased expression:plasma, respiratory system fluid/secretion RGD PMID:11296379 RGD:4892261 NCBI chr15:38,076,057...38,077,899
Ensembl chr15:38,076,057...38,077,899
JBrowse link
G IFNG interferon gamma ISO associated with Diabetes Mellitus, Insulin-Dependent;mRNA:increased expression:lung RGD PMID:19060451 RGD:2311490 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
JBrowse link
G IFNGR1 interferon gamma receptor 1 ISO DNA: mutation
DNA: missense mutations: cds: I87T; V63G
RGD PMID:15589309 PMID:21266457 RGD:6480268 RGD:6480429 NCBI chr 1:27,037,151...27,061,095
Ensembl chr 1:27,037,165...27,061,093
JBrowse link
G IL22 interleukin 22 ISO RGD PMID:19864591 RGD:5147407 NCBI chr 5:32,599,522...32,604,507
Ensembl chr 5:32,599,471...32,604,513
JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 ameliorates ISO RGD PMID:28401933 RGD:127229921 NCBI chr 7:74,951,145...74,955,255
Ensembl chr 7:74,951,145...74,955,251
JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO DNA:point mutation (mouse) RGD PMID:11821237 RGD:5684969 NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396
JBrowse link
G STAT1 signal transducer and activator of transcription 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11452125 NCBI chr15:95,593,201...95,646,324
Ensembl chr15:95,593,211...95,646,260
JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: therapeutic CTD PMID:15316035 NCBI chr 6:72,103,309...72,174,882 JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:15316035 PMID:18941223 NCBI chr 1:255,436,206...255,459,020
Ensembl chr 1:255,432,969...255,459,073
JBrowse link
Nontuberculous Mycobacterium Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFTR CF transmembrane conductance regulator susceptibility ISO DNA:mutations: :
DNA:SNP:cds:rs113857788(p.Q1352H)(human)
RGD PMID:18703788 PMID:19858235 PMID:23514810 RGD:36049751 RGD:4140395 RGD:4140430 NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950
JBrowse link
G IFNGR1 interferon gamma receptor 1 susceptibility ISO DNA:nonsense mutation
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
RGD
ClinVar
PMID:8960473 PMID:9389728 PMID:9536098 PMID:9806040 PMID:10192386 More... RGD:1624283 NCBI chr 1:27,037,151...27,061,095
Ensembl chr 1:27,037,165...27,061,093
JBrowse link
G IL12B interleukin 12B susceptibility ISO disseminated BCG and Salmonella enteritidis infection, OMIM:209950 DNA:deletion:intron,exon:homozygous 4.4kb deletion encompassing exons 4 and 5 and associated introns
ClinVar Annotator: match by term: Familial Atypical Mycobacteriosis, Autosomal Recessive
RGD
ClinVar
PMID:9854038 RGD:1600042 NCBI chr16:64,143,268...64,158,929
Ensembl chr16:64,143,268...64,158,929
JBrowse link
G IL18 interleukin 18 ISO RGD PMID:21045270 RGD:4889546 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
JBrowse link
G IL1R1 interleukin 1 receptor type 1 ISO RGD PMID:16797208 RGD:5037237 NCBI chr 3:52,192,912...52,334,734
Ensembl chr 3:52,192,915...52,288,485
JBrowse link
G IL20RA interleukin 20 receptor subunit alpha ISO ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183 NCBI chr 1:27,137,545...27,172,341
Ensembl chr 1:27,137,558...27,172,720
JBrowse link
G IL22RA2 interleukin 22 receptor subunit alpha 2 ISO ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183 NCBI chr 1:27,073,481...27,090,635
Ensembl chr 1:27,073,610...27,091,236
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 chr 1:26,800,671...26,801,489
Ensembl chr 1:26,800,671...26,801,489
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 chr 1:27,257,872...27,346,529
Ensembl chr 1:27,257,011...27,346,515
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 chr 1:27,246,742...27,250,476
Ensembl chr 1:27,246,752...27,250,254
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
RGD
ClinVar
PMID:11452125 RGD:1600087 NCBI chr15:95,593,201...95,646,324
Ensembl chr15:95,593,211...95,646,260
JBrowse link
G TNFAIP3 TNF 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 chr 1:26,474,158...26,489,771
Ensembl chr 1:26,473,938...26,489,822
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 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
JBrowse link
Paratuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1R complement C1r ISO CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chr 5:63,644,097...63,655,149
Ensembl chr 5:63,643,374...63,655,143
JBrowse link
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228
JBrowse link
G F2 coagulation factor II, thrombin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,455...15,819,137
JBrowse link
G GSN gelsolin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chr 1:261,295,711...261,372,848
Ensembl chr 1:261,307,008...261,372,848
JBrowse link
G LOC110256000 membrane primary amine oxidase-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chr12:19,996,324...20,007,006 JBrowse link
G TF transferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chr13:74,930,655...74,970,599
Ensembl chr13:74,930,655...74,972,763
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 expression:serum:
protein:increased activity:serum:
protein:increased activity:pleural fluid:
RGD PMID:1689629 PMID:1818842 PMID:18357489 PMID:21860532 RGD:152995280 RGD:152995288 RGD:152995292 RGD:152998934 NCBI chr17:47,044,492...47,072,232
Ensembl chr17:47,044,497...47,072,245
JBrowse link
G ADA2 adenosine deaminase 2 treatment ISO RGD PMID:8656037 RGD:152995258 NCBI chr 5:69,526,413...69,554,640
Ensembl chr 5:69,526,435...69,554,661
JBrowse link
G CCL22 C-C motif chemokine ligand 22 ISO RGD PMID:20337996 RGD:4891473 NCBI chr 6:19,296,726...19,301,506
Ensembl chr 6:19,296,637...19,302,737
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO RGD PMID:19159432 RGD:4145106 NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,285,012...29,376,343
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 chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895
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:43,303,777...43,328,164
Ensembl chr  X:43,303,785...43,322,968
JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO DNA:repeat (human) RGD PMID:10377182 RGD:4143226
G IL27 interleukin 27 exacerbates ISO protein:increased expression:alveolar system (human)
associated with Pleural Effusion;protein:increased expression:pleural fluid (human)
RGD PMID:23962500 PMID:25753767 PMID:28844060 PMID:31819557 RGD:126790505 RGD:126790517 RGD:126790523 RGD:126790549 NCBI chr 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915
JBrowse link
G IL33 interleukin 33 ISO protein:increased expression:pleural fluid: RGD PMID:23301222 RGD:39939042 NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO DNA:polymorphism: :3953T>C (human) RGD PMID:10377182 RGD:4143226
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:pleura: RGD PMID:18715875 RGD:5129700 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
JBrowse link
G TLR4 toll like receptor 4 ISO RGD PMID:18295348 RGD:4144193 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
JBrowse link
G TNC tenascin C ISO protein:increased expression:pleura RGD PMID:10950882 RGD:4889594 NCBI chr 1:255,533,235...255,630,381
Ensembl chr 1:255,533,238...255,630,376
JBrowse link
Pneumococcal Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFH complement factor H exacerbates ISO RGD PMID:26802141 RGD:108019050
G IL17A interleukin 17A susceptibility ISO associated with Bronchiolitis;DNA:SNP:promoter:rs2275913 (human) RGD PMID:20437253 RGD:4889139 NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
JBrowse link
G IL27 interleukin 27 ISO associated with influenza A;protein:increased expression:lung (mouse) RGD PMID:24408967 RGD:11556418 NCBI chr 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915
JBrowse link
G NFKBIA NFKB inhibitor alpha susceptibility ISO DNA:SNP: :(rs1050851) (human)
DNA:SNPs:enhancers: (rs3138053, rs2233406) (human)
RGD PMID:17463416 PMID:29407193 RGD:127285388 RGD:127285391 NCBI chr 7:64,508,119...64,510,754
Ensembl chr 7:64,507,822...64,511,277
JBrowse link
G TIRAP TIR domain containing adaptor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:17322885 NCBI chr 9:53,374,559...53,394,172
Ensembl chr 9:53,375,644...53,394,165
JBrowse link
G TLR9 toll like receptor 9 ISO RGD PMID:17004992 RGD:5130710 NCBI chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673
JBrowse link
Pneumococcal Meningitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM17 ADAM metallopeptidase domain 17 treatment ISO RGD PMID:24491581 RGD:13703038 NCBI chr 3:126,795,513...126,853,995
Ensembl chr 3:126,795,426...126,853,995
JBrowse link
G AQP4 aquaporin 4 treatment ISO protein:increased expression:brain: RGD PMID:15695511 RGD:8698660 NCBI chr 6:111,407,632...111,422,169
Ensembl chr 6:111,407,639...111,422,109
JBrowse link
G ATM ATM serine/threonine kinase ameliorates ISO RGD PMID:15529270 RGD:126781748 NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,552
JBrowse link
G CYSLTR1 cysteinyl leukotriene receptor 1 disease_progression ISO mRNA, protein:increased expression:brain (rat) RGD PMID:31933824 RGD:40903068 NCBI chr  X:62,380,778...62,407,736
Ensembl chr  X:62,380,780...62,456,689
JBrowse link
G CYSLTR2 cysteinyl leukotriene receptor 2 ISO mRNA, protein:increased expression:brain (rat) RGD PMID:31933824 RGD:40903068 NCBI chr11:18,988,665...19,011,015
Ensembl chr11:18,987,174...19,011,015
JBrowse link
G IDO1 indoleamine 2,3-dioxygenase 1 treatment ISO RGD PMID:24844751 RGD:39939118 NCBI chr17:9,245,283...9,260,140
Ensembl chr17:9,245,196...9,260,473
JBrowse link
G IL6 interleukin 6 treatment ISO protein:increased expression:brain RGD PMID:8943431 PMID:11581077 PMID:25443778 RGD:11060264 RGD:11062107 RGD:9831197 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
JBrowse link
G LGALS3 galectin 3 ISO mRNA, protein:increased expression:brain RGD PMID:17706429 RGD:9685206 NCBI chr 1:184,478,639...184,496,155
Ensembl chr 1:184,478,710...184,497,951
JBrowse link
G LGALS9 galectin 9 ISO RGD PMID:17706429 RGD:9685206 NCBI chr12:44,155,079...44,173,634 JBrowse link
G LOC110255221 antibacterial peptide PMAP-37 ISO protein:increased expression:brain, coronal section (rat) RGD PMID:19879657 RGD:2316237 NCBI chr13:31,011,029...31,013,164 JBrowse link
G MARCO macrophage receptor with collagenous structure ISO protein:increased expression:meninges, astrocyte RGD PMID:21299846 RGD:41412190 NCBI chr15:24,502,935...24,541,286
Ensembl chr15:24,503,108...24,541,283
JBrowse link
G MMP2 matrix metallopeptidase 2 treatment ISO RGD PMID:24419461 RGD:8657111 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO protein:increased expression:cerebrospinal fluid RGD PMID:17371820 PMID:24419461 RGD:1642043 RGD:8657111 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 ISO mRNA, protein:increased expression:brain RGD PMID:25443778 RGD:9831197 NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534
JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 ISO mRNA:increased expression:brain RGD PMID:21603940 RGD:5684913 NCBI chr10:30,030,050...30,429,938
Ensembl chr10:30,033,405...30,429,882
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO protein:increased expression:brain, nucleus RGD PMID:25443778 RGD:9831197 NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469
JBrowse link
G SERPING1 serpin family G member 1 treatment ISO RGD PMID:17538891 RGD:8661645 NCBI chr 2:13,324,160...13,338,826
Ensembl chr 2:13,324,158...13,338,663
JBrowse link
G TLR2 toll like receptor 2 ISO mRNA:increased expression: : RGD PMID:12781911 RGD:7794740 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
JBrowse link
G TLR4 toll like receptor 4 ISO mRNA:increased expression: : RGD PMID:12781911 RGD:7794740 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
JBrowse link
G TLR9 toll like receptor 9 ISO mRNA:increased expression: : RGD PMID:12781911 RGD:7794740 NCBI chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673
JBrowse link
G TNF tumor necrosis factor disease_progression ISO protein:increased expression:brain
mRNA:increased expression:brain (rat)
RGD PMID:25443778 PMID:31933824 RGD:40903068 RGD:9831197 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
JBrowse link
Pneumococcal Pneumonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AICDA activation induced cytidine deaminase ISO RGD PMID:26456931 RGD:11098923 NCBI chr 5:62,777,236...62,787,342
Ensembl chr 5:62,777,352...62,787,369
JBrowse link
G ALOX5 arachidonate 5-lipoxygenase ISO RGD PMID:20231413 RGD:4890435 NCBI chr14:90,859,209...90,907,084
Ensembl chr14:90,859,016...90,907,094
JBrowse link
G BTK Bruton tyrosine kinase ameliorates ISO RGD PMID:30646846 RGD:124715470 NCBI chr  X:82,981,512...83,014,475
Ensembl chr  X:82,981,515...83,014,573
JBrowse link
G C3 complement C3 disease_progression ISO protein:decreased expression:serum
associated with Liver Cirrhosis, Experimental;protein:decreased expression:respiratory system fluid/secretion
RGD PMID:20405 PMID:15972516 PMID:17956621 RGD:5129509 RGD:5129523 RGD:5130163 NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228
JBrowse link
G C5 complement C5 severity ISO RGD PMID:7814608 RGD:5130159 NCBI chr 1:260,995,662...261,088,868
Ensembl chr 1:260,995,668...261,133,483
JBrowse link
G CCL5 C-C motif chemokine ligand 5 susceptibility ISO RGD PMID:16455992 RGD:4892130 NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
JBrowse link
G CD14 CD14 molecule ISO RGD PMID:17185649 RGD:4144788 NCBI chr 2:142,348,036...142,349,686
Ensembl chr 2:142,346,360...142,349,581
JBrowse link
G CHI3L1 chitinase 3 like 1 ISO protein:increased secretion:serum (human) RGD PMID:10515841 RGD:4892626 NCBI chr 9:113,885,541...113,895,033
Ensembl chr 9:113,885,542...113,895,131
JBrowse link
G CRHR1 corticotropin releasing hormone receptor 1 ISO RGD PMID:21774994 RGD:5147472 NCBI chr12:17,251,361...17,306,308
Ensembl chr12:17,252,020...17,306,285
JBrowse link
G CRHR2 corticotropin releasing hormone receptor 2 ISO RGD PMID:21774994 RGD:5147472 NCBI chr18:42,251,755...42,296,457
Ensembl chr18:42,251,749...42,295,467
JBrowse link
G CRP C-reactive protein, pentraxin-related disease_progression ISO RGD PMID:21281676 RGD:5131293 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24894820 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 ISO protein:increased expression:lung RGD PMID:20381636 RGD:5135285 NCBI chr 8:71,665,541...71,670,236
Ensembl chr 8:71,663,501...71,670,271
JBrowse link
G DEFB1 defensin, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24894820 NCBI chr15:38,076,057...38,077,899
Ensembl chr15:38,076,057...38,077,899
JBrowse link
G HMOX1 heme oxygenase 1 ISO associated with influenza;protein:increased expression:lung RGD PMID:17348295 RGD:4145366
G HP haptoglobin ISO RGD PMID:19396720 RGD:5147385 NCBI chr 6:14,980,382...14,985,245 JBrowse link
G IL15 interleukin 15 ISO protein:increased expression:alveolar macrophage, bronchial epithelial cell RGD PMID:17611121 RGD:5000755 NCBI chr 8:85,666,963...85,740,980
Ensembl chr 8:85,667,321...85,678,461
JBrowse link
G IL15RA interleukin 15 receptor subunit alpha ISO RGD PMID:17611121 RGD:5000755 NCBI chr10:65,022,227...65,054,385 JBrowse link
G IL17A interleukin 17A ISO RGD PMID:19995896 RGD:4888531 NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
JBrowse link
G IL18 interleukin 18 ISO RGD PMID:15770015 RGD:4889960 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
JBrowse link
G IL6 interleukin 6 ISO RGD PMID:20643849 RGD:4143255 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
JBrowse link
G LEP leptin ISO RGD PMID:17822444 RGD:5128869 NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,323
JBrowse link
G LEPR leptin receptor ISO RGD PMID:21148797 RGD:5128846 NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,801,954...146,895,995
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24894820 NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,513
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24894820 NCBI chr 3:18,291,444...18,299,410
Ensembl chr 3:18,291,445...18,299,567
JBrowse link
G MASP2 MBL associated serine protease 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12904520 NCBI chr 6:71,224,637...71,243,041
Ensembl chr 6:71,224,637...71,243,874
JBrowse link
G MBL2 mannose binding lectin 2 no_association ISO DNA:mutations:5' utr, exon:multiple (human)
DNA:polymorphisms:5' utr, exon:multiple (human)
RGD PMID:12047967 PMID:18641104 RGD:4889477 RGD:4889478 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
JBrowse link
G NOS2 nitric oxide synthase 2 ISO RGD PMID:17056580 RGD:4891950 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146
JBrowse link
G PTEN phosphatase and tensin homolog ameliorates ISO myeloid knockout RGD PMID:20505137 RGD:127285597 NCBI chr14:99,929,590...100,021,619 JBrowse link
G SFTPD surfactant protein D severity ISO RGD PMID:16255775 RGD:4143519 NCBI chr14:82,051,400...82,069,258
Ensembl chr14:82,051,451...82,067,976
JBrowse link
G SIRT1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24894820 NCBI chr14:71,091,167...71,126,351
Ensembl chr14:71,091,167...71,123,297
JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 ISO RGD PMID:29263110 RGD:39128230 NCBI chr 2:141,359,402...141,367,222
Ensembl chr 2:141,358,993...141,367,198
JBrowse link
G TLR2 toll like receptor 2 ISO RGD PMID:19956717 RGD:4145321 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
JBrowse link
G TNF tumor necrosis factor ISO associated with influenza;protein:increased expression:lung RGD PMID:9032201 PMID:17348295 RGD:4143479 RGD:4145366 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
JBrowse link
G TREM1 triggering receptor expressed on myeloid cells 1 ameliorates ISO RGD PMID:19596984 PMID:24752755 RGD:126928121 RGD:127229903 NCBI chr 7:36,510,253...36,531,796
Ensembl chr 7:36,510,253...36,531,796
JBrowse link
pulmonary tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 treatment ISO DNA:SNP: :2677G>A (human) RGD PMID:26067842 RGD:11098541 NCBI chr 9:93,049,955...93,146,469 JBrowse link
G ADA adenosine deaminase ISO protein:increased expression:plasma, respiratory system fluid/secretion
protein:increased activity:blood, pulmonary alveolar duct
protein:increased activity:sputum:
RGD PMID:2212911 PMID:12194640 PMID:19460251 RGD:152995271 RGD:152995390 RGD:5128854 NCBI chr17:47,044,492...47,072,232
Ensembl chr17:47,044,497...47,072,245
JBrowse link
G ADA2 adenosine deaminase 2 ISO protein:increased activity:sputum: RGD PMID:19460251 RGD:152995271 NCBI chr 5:69,526,413...69,554,640
Ensembl chr 5:69,526,435...69,554,661
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:increased expression:plasma RGD PMID:22022605 RGD:5686405 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646
JBrowse link
G AKT1 AKT serine/threonine kinase 1 susceptibility ISO DNA:SNP,haplotype:intron: IVS3+18 C/C (human) RGD PMID:20141546 RGD:38676498
G ALOX5 arachidonate 5-lipoxygenase susceptibility ISO DNA:polymorphism, repeat:promoter, exon:g.760G>A (human) RGD PMID:18174194 RGD:4890411 NCBI chr14:90,859,209...90,907,084
Ensembl chr14:90,859,016...90,907,094
JBrowse link
G AMCF-II alveolar macrophage-derived chemotactic factor-II susceptibility ISO mRNA:increased expression:lung RGD PMID:16790804 RGD:5135246 NCBI chr 8:70,008,225...70,010,360
Ensembl chr 8:70,008,162...70,010,358
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 4:10,103,860...10,451,928
Ensembl chr 4:10,179,758...10,451,929
JBrowse link
G ATF3 activating transcription factor 3 ISO mRNA,protein:increased expression:lung RGD PMID:20856677 RGD:34888225 NCBI chr 9:130,772,259...130,829,678
Ensembl chr 9:130,772,262...130,785,506
JBrowse link
G C3 complement C3 ISO RGD PMID:19472039 RGD:5129500 NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228
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:4891408 RGD:4891409 NCBI chr12:40,728,014...40,731,411
Ensembl chr12:40,728,014...40,731,411
JBrowse link
G CCL19 C-C motif chemokine ligand 19 ISO mRNA:increased expression:lung RGD PMID:19933855 RGD:5130906 NCBI chr10:32,110,366...32,112,529
Ensembl chr10:32,110,065...32,112,734
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 susceptibility ISO DNA:polymorphism: :-2518A>G (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16352737 PMID:18940815 PMID:20111728 RGD:4891439 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
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:15128813 PMID:19335954 RGD:4891879 RGD:4892112 NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
JBrowse link
G CCR2 C-C motif chemokine receptor 2 disease_progression ISO RGD PMID:11438742 RGD:734715 NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,285,012...29,376,343
JBrowse link
G CCR5 C-C motif chemokine receptor 5 ISO protein:decreased expression:blood, T cell (human) RGD PMID:16379602 RGD:4892094 NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895
JBrowse link
G CD14 CD14 molecule susceptibility ISO protein:increased expression:monocyte, serum
DNA:polymorphism:promoter:c. -159C>T (human)
RGD PMID:18008256 RGD:4144205 NCBI chr 2:142,348,036...142,349,686
Ensembl chr 2:142,346,360...142,349,581
JBrowse link
G CD163 CD163 molecule exacerbates ISO protein:increased expression:blood plasma, CD14-positive monocyte (human)
protein:increased expression:blood serum (human)
RGD PMID:27684274 PMID:27685837 RGD:127285801 RGD:127345136 NCBI chr 5:63,300,200...63,334,497
Ensembl chr 5:63,300,231...63,334,498
JBrowse link
G CD1D CD1d molecule susceptibility ISO DNA:SNPS, haplotype:intron, enhancer: (rs859009,rs859010, rs973742) (human) RGD PMID:30972222 RGD:127345096 NCBI chr 4:92,096,670...92,101,177
Ensembl chr 4:92,094,700...92,101,095
JBrowse link
G CD209 CD209 molecule susceptibility ISO CTD Direct Evidence: marker/mechanism
associated with HIV Seropositivity; DNA:SNP:promoter: -336A>G (rs4804803) (human)
DNA:SNPs:promoter:-139G>A, -336A>G, -871A>G (rs2287886,rs4804803,rs735239) (human)
CTD
RGD
PMID:16379498 PMID:19126442 PMID:24874302 RGD:39938981 RGD:39939062 NCBI chr 2:71,394,414...71,397,711
Ensembl chr 2:71,394,391...71,397,968
JBrowse link
G CD274 CD274 molecule ISO protein:increased expression:Tcell, B cell, monocyte RGD PMID:23661793 RGD:40818418 NCBI chr 1:216,646,378...216,792,731
Ensembl chr 1:216,660,041...216,792,724
JBrowse link
G CD36 CD36 molecule susceptibility ISO DNA:SNPs: :rs1194182, rs10499859(human) RGD PMID:28693442 RGD:41412192 NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105
JBrowse link
G CD86 CD86 molecule ISO protein:decreased expression:sputum, macrophage (human) RGD PMID:17713660 RGD:4892339 NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,533...138,504,310
JBrowse link
G CRP C-reactive protein, pentraxin-related severity ISO associated with HIV Infections RGD PMID:21197091 PMID:21219690 RGD:5131284 RGD:5131287 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 treatment ISO RGD PMID:29843631 RGD:27095956 NCBI chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948
JBrowse link
G CXCL2 chemokine (C-X-C motif) ligand 2 disease_progression ISO RGD PMID:20454613 RGD:5135037 NCBI chr 8:70,157,253...70,159,145
Ensembl chr 8:70,157,214...70,159,138
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 exacerbates ISO protein:increased expression:serum (human)
RNA:increased expression:blood plasma (human)
RGD PMID:16001981 PMID:27434276 RGD:150523784 RGD:39939055 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
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 chr 6:1,015,212...1,021,422
Ensembl chr 6:1,015,162...1,021,420
JBrowse link
G DDIT3 DNA damage inducible transcript 3 ISO mRNA,protein:increased expression:lung RGD PMID:20856677 RGD:34888225 NCBI chr 5:22,785,441...22,789,867
Ensembl chr 5:22,785,445...22,789,829
JBrowse link
G EGFR epidermal growth factor receptor disease_progression ISO associated with lung adenocarcinoma; RGD PMID:22173705 PMID:29621876 RGD:38599162 RGD:38599176 NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589
JBrowse link
G EREG epiregulin susceptibility ISO DNA:SNP:exon 4: (rs2367707) (human) RGD PMID:30634928 RGD:39457687 NCBI chr 8:70,351,316...70,372,530
Ensembl chr 8:70,351,311...70,372,569
JBrowse link
G FOXP3 forkhead box P3 susceptibility ISO DNA:polymorphism:promoter:-924A>G(human) RGD PMID:29020928 RGD:38501101 NCBI chr  X:43,303,777...43,328,164
Ensembl chr  X:43,303,785...43,322,968
JBrowse link
G GBE1 1,4-alpha-glucan branching enzyme 1 ISO DNA:SNP:intron:rs2307058 (human) RGD PMID:28355295 RGD:18337291 NCBI chr13:173,634,401...173,909,646
Ensembl chr13:173,634,454...173,914,756
JBrowse link
G HAVCR2 hepatitis A virus cellular receptor 2 ISO RGD PMID:21382414 RGD:5135524 NCBI chr16:66,138,157...66,160,568
Ensembl chr16:66,139,535...66,160,538
JBrowse link
G IDO1 indoleamine 2,3-dioxygenase 1 treatment ISO RGD PMID:32369456 RGD:39939073 NCBI chr17:9,245,283...9,260,140
Ensembl chr17:9,245,196...9,260,473
JBrowse link
G IL13 interleukin 13 ISO mRNA:increased expression:Leukocytes, Mononuclear RGD PMID:10608794 RGD:4145649 NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093
JBrowse link
G IL15 interleukin 15 ISO mRNA, protein:increased expression:lung RGD PMID:11742275 RGD:4990461 NCBI chr 8:85,666,963...85,740,980
Ensembl chr 8:85,667,321...85,678,461
JBrowse link
G IL18 interleukin 18 ISO protein:increased expression:serum RGD PMID:15955140 RGD:4889836 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
JBrowse link
G IL1A interleukin 1 alpha ISO RGD PMID:9176116 RGD:4142835 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
JBrowse link
G IL1RL1 interleukin 1 receptor like 1 ISO RGD PMID:28128217 RGD:39938965 NCBI chr 3:51,868,549...51,902,454
Ensembl chr 3:51,846,792...51,951,383
JBrowse link
G IL1RN interleukin 1 receptor antagonist severity ISO protein:increased expression:lung, serum RGD PMID:10543265 PMID:10631206 PMID:14619382 RGD:4143174 RGD:4143179 RGD:4143180
G IL23A interleukin 23 subunit alpha ISO mRNA:increased expression:lung (mouse) RGD PMID:11801672 PMID:16002675 PMID:20624887 PMID:21156751 RGD:39457949 RGD:39457953 RGD:39458036 RGD:39458038 NCBI chr 5:21,732,416...21,733,981
Ensembl chr 5:21,732,165...21,734,267
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:30948177 PMID:31949807 RGD:126790508 RGD:39456132 NCBI chr 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915
JBrowse link
G IL27RA interleukin 27 receptor subunit alpha ISO RGD PMID:15749890 RGD:5128486 NCBI chr 2:65,127,278...65,149,665
Ensembl chr 2:65,127,287...65,149,740
JBrowse link
G IL33 interleukin 33 ISO RGD PMID:28128217 RGD:39938965 NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
JBrowse link
G IL4 interleukin 4 severity ISO RGD PMID:20832364 RGD:5128550 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
JBrowse link
G IL4R interleukin 4 receptor ISO protein:decreased expression:serum RGD PMID:21251883 RGD:5128510 NCBI chr 3:19,526,343...19,576,792
Ensembl chr 3:19,523,564...19,576,544
JBrowse link
G IL6 interleukin 6 ISO RGD PMID:20624776 RGD:4143257 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
JBrowse link
G IL6R interleukin 6 receptor ISO protein:decreased expression:T cell RGD PMID:20019339 RGD:5128632 NCBI chr 4:95,322,426...95,381,393
Ensembl chr 4:95,322,433...95,381,282
JBrowse link
G IRF1 interferon regulatory factor 1 ISO RGD PMID:11083808 RGD:5128719 NCBI chr 2:134,776,122...134,783,646
Ensembl chr 2:134,776,129...134,783,801
JBrowse link
G ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 ISO protein:increased expression:urine RGD PMID:29636444 RGD:40903003 NCBI chr13:34,928,455...34,948,250
Ensembl chr13:34,928,439...34,948,229
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 6:153,686,425...153,687,635
Ensembl chr 6:153,685,682...153,687,636
JBrowse link
G LCN2 lipocalin 2 disease_progression
exacerbates
ISO RGD PMID:19050270 PMID:30534124 RGD:126779558 RGD:126779565 NCBI chr 1:268,609,975...268,614,651
Ensembl chr 1:268,609,887...268,614,644
JBrowse link
G LOC110258578 interleukin-1 beta-like severity
susceptibility
ISO protein:increased expression:lung
DNA:polymorphism: :3953T>C (human)
protein:increased expression:bronchioalveolar lavage fluid (human)
RGD PMID:10543265 PMID:10631206 PMID:16634865 RGD:4143179 RGD:4143180 RGD:5147843
G LTA lymphotoxin alpha susceptibility ISO DNA:polymorphism:intron:252G>A (human) RGD PMID:20180006 RGD:4143234 NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,040...23,698,299
JBrowse link
G MARCO macrophage receptor with collagenous structure susceptibility ISO DNA:SNPs: :rs2278589, rs6751745,rs6748401 (human)
DNA:SNP: :rs12998782(human)
DNA:SNPs:introns:rs4491733,rs12998782,rs13389814,rs7559955 (human)
RGD PMID:23617307 PMID:27853145 PMID:28693442 RGD:41412192 RGD:41412194 RGD:41412195 NCBI chr15:24,502,935...24,541,286
Ensembl chr15:24,503,108...24,541,283
JBrowse link
G MBL2 mannose binding lectin 2 ISO DNA:polymorphisms:5' utr, exon:multiple (human) RGD PMID:19199550 RGD:4889452 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
JBrowse link
G MIF macrophage migration inhibitory factor susceptibility ISO DNA:SNP: :rs755622 (human) RGD PMID:20439102 RGD:4891004 NCBI chr14:49,840,303...49,841,063
Ensembl chr14:49,840,305...49,841,068
JBrowse link
G MIR30A microRNA mir-30a disease_progression ISO RGD PMID:25866116 RGD:35668864 NCBI chr 1:51,412,827...51,412,933
Ensembl chr 1:51,412,827...51,412,933
JBrowse link
G MMP3 matrix metallopeptidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24890593 NCBI chr 9:33,446,969...33,453,995
Ensembl chr 9:33,446,836...33,454,000
JBrowse link
G MMP7 matrix metallopeptidase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24890593 NCBI chr 9:33,214,590...33,225,080
Ensembl chr 9:33,214,594...33,225,080
JBrowse link
G MMP8 matrix metallopeptidase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24890593 NCBI chr 9:33,384,034...33,397,637
Ensembl chr 9:33,384,033...33,396,947
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:16982845 RGD:5130746 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
JBrowse link
G NFKBIA NFKB inhibitor alpha ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:9379002 RGD:126908014 NCBI chr 7:64,508,119...64,510,754
Ensembl chr 7:64,507,822...64,511,277
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 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534
JBrowse link
G NOS2 nitric oxide synthase 2 ISO DNA:SNPs:multiple (human) RGD PMID:19575238 RGD:4144122 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146
JBrowse link
G PDCD1 programmed cell death 1 treatment ISO protein:increased expression:Tcell, B cell, monocyte RGD PMID:23661793 RGD:40818418 NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,258...140,347,478
JBrowse link
G PDCD1LG2 programmed cell death 1 ligand 2 ISO protein:increased expression:Tcell, B cell, monocyte RGD PMID:23661793 RGD:40818418 NCBI chr 1:216,564,428...216,600,333
Ensembl chr 1:216,553,105...216,657,170
JBrowse link
G PLAUR plasminogen activator, urokinase receptor severity ISO RGD PMID:18359089 RGD:6483832 NCBI chr 6:50,489,773...50,505,453
Ensembl chr 6:50,489,777...50,505,418
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 4:106,692,102...106,758,101
Ensembl chr 4:106,686,604...106,758,099
JBrowse link
G SFTPA1 surfactant protein A1 susceptibility ISO DNA:SNP:intron:1416C>T (human)
DNA:SNPs:exons:307G>A, 776C>T (human)
RGD PMID:12476938 PMID:16292672 RGD:4144874 RGD:4144875 NCBI chr14:82,091,178...82,095,393
Ensembl chr14:82,091,178...82,095,393
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:36049753 RGD:5684974 NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396
JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member ISO associated with HIV Infections; RGD PMID:21843574 RGD:6482248 NCBI chr 7:25,062,772...25,071,989
Ensembl chr 7:25,062,771...25,074,843
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:polymorphism: : RGD PMID:9062973 RGD:5147851 NCBI chr 7:25,045,085...25,056,915
Ensembl chr 7:25,045,685...25,056,300
JBrowse link
G TLR1 toll like receptor 1 ISO mRNA:increased expression:blood RGD PMID:16493059 RGD:4889525 NCBI chr 8:30,147,600...30,155,454
Ensembl chr 8:30,147,624...30,155,466
JBrowse link
G TLR2 toll like receptor 2 susceptibility ISO DNA:polymorphism:intron (human)
DNA:SNP: :rs1816702 (human)
DNA:polymorphisms: :multiple (human)
mRNA, protein:increased expression:blood, T cell
RGD PMID:19552525 PMID:19723394 PMID:20113509 PMID:20298136 RGD:4145304 RGD:4145320 RGD:4145323 RGD:4145355 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
JBrowse link
G TLR4 toll like receptor 4 severity
susceptibility
ISO protein:increased expression:monocyte
DNA:polymorphisms:cds: p. D299F, T399I (human)
DNA:SNP:intron: rs5030729 (human)
RGD PMID:18008256 PMID:19575238 PMID:20403143 RGD:4144106 RGD:4144122 RGD:4144205 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
JBrowse link
G TLR9 toll like receptor 9 ISO DNA:snps:multiple (human) RGD PMID:19771452 RGD:5130704 NCBI chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673
JBrowse link
G TNF tumor necrosis factor susceptibility
disease_progression
ISO DNA:polymorphisms::c.-857 C>T, c. -863 A>C (human) RGD PMID:9176116 PMID:18212516 PMID:20650298 RGD:4142835 RGD:4143388 RGD:4143395 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
JBrowse link
G TREM1 triggering receptor expressed on myeloid cells 1 disease_progression ISO RGD PMID:29844416 RGD:126925977 NCBI chr 7:36,510,253...36,531,796
Ensembl chr 7:36,510,253...36,531,796
JBrowse link
G VDR vitamin D receptor susceptibility ISO DNA:SNPs:5' UTR (human)
DNA:SNPs:promoter, 3' UTR (human)
DNA:SNPs (human)
DNA:SNP (human)
RGD PMID:15295697 PMID:17236578 PMID:18231846 PMID:18397302 PMID:20231985 RGD:4889830 RGD:4889842 RGD:4889845 RGD:4889849 RGD:4889853 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475
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:19548368 PMID:21251883 RGD:5128510 RGD:7207069 NCBI chr 3:19,526,343...19,576,792
Ensembl chr 3:19,523,564...19,576,544
JBrowse link
rheumatic fever term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GC GC vitamin D binding protein ISO RGD PMID:2737695 RGD:5509933 NCBI chr 8:68,326,293...68,360,262
Ensembl chr 8:68,326,299...68,360,262
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased expression:serum RGD PMID:14567831 RGD:13702910 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
JBrowse link
rheumatic heart disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA2 actin alpha 2, smooth muscle ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr14:100,868,145...100,886,732
Ensembl chr14:100,867,733...100,886,713
JBrowse link
G BAX BCL2 associated X, apoptosis regulator ISO mRNA:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,222,336...54,228,140
JBrowse link
G CD209 CD209 molecule ISO protein:increased expression:left cardiac atrium, dendritic cell (human) RGD PMID:30261069 RGD:41410815 NCBI chr 2:71,394,414...71,397,711
Ensembl chr 2:71,394,391...71,397,968
JBrowse link
G CD36 CD36 molecule ISO mRNA:decreased expression:blood, mononuclear cell RGD PMID:16741676 RGD:6893529 NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004
JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO mRNA:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,526,603...93,596,363
JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO RGD PMID:26823728 RGD:13792679 NCBI chr 5:64,129,678...64,135,194
Ensembl chr 5:64,129,679...64,133,991
JBrowse link
G IGF1 insulin like growth factor 1 ISO RGD PMID:16406300 RGD:1582623 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033
JBrowse link
G IL10 interleukin 10 no_association ISO RGD PMID:16043936 RGD:1598626 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
JBrowse link
G INHBA inhibin subunit beta A ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr12:53,115,379...53,117,128
NCBI chr18:52,889,684...52,909,260
Ensembl chr18:52,889,684...52,900,967
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 8:113,824,511...113,944,078
Ensembl chr 8:113,825,161...113,944,070
JBrowse link
G MIR155 microRNA mir-155 ISO RGD PMID:31894293 RGD:151347417 NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:16406300 RGD:1582623 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
JBrowse link
G SNAI1 snail family transcriptional repressor 1 ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr17:51,546,446...51,552,498
Ensembl chr17:51,546,477...51,552,499
JBrowse link
G SOCS1 suppressor of cytokine signaling 1 treatment ISO RGD PMID:31894293 RGD:151347417 NCBI chr 3:31,879,143...31,883,041
Ensembl chr 3:31,881,225...31,884,967
JBrowse link
G TWIST1 twist family bHLH transcription factor 1 ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr 9:88,286,911...88,290,131
Ensembl chr 9:88,289,407...88,290,015
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 chr10:42,013,114...42,216,139
Ensembl chr10:42,013,084...42,214,205
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 chr15:7,498,879...7,631,347
Ensembl chr15:7,499,026...7,632,655
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 1:261,295,711...261,372,848
Ensembl chr 1:261,307,008...261,372,848
JBrowse link
G ICAM1 intercellular adhesion molecule 1 severity ISO protein:increased expression:serum RGD PMID:22987107 RGD:13702907 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
JBrowse link
G SELE selectin E severity ISO protein:increased expression:serum RGD PMID:22987107 RGD:13702907 NCBI chr 4:81,289,061...81,299,657 JBrowse link
G VCAM1 vascular cell adhesion molecule 1 severity ISO protein:increased expression:serum RGD PMID:22987107 RGD:13702907 NCBI chr 4:117,496,914...117,511,211
Ensembl chr 4:117,496,920...117,511,222
JBrowse link
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 ISO RGD PMID:31141689 RGD:39128194 NCBI chr 2:141,359,402...141,367,222
Ensembl chr 2:141,358,993...141,367,198
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 (peptidyl-dipeptidase A) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8186310 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703
JBrowse link
G CD163 CD163 molecule exacerbates ISO RGD PMID:32199911 RGD:127285678 NCBI chr 5:63,300,200...63,334,497
Ensembl chr 5:63,300,231...63,334,498
JBrowse link
G CD36 CD36 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:15690042 NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105
JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:27737899 NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,449...22,338,753
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23661603 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:23993644 RGD:7364979 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
JBrowse link
G IL2 interleukin 2 ISO RGD PMID:21603642 RGD:5147906 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
JBrowse link
G IL4 interleukin 4 susceptibility ISO DNA:SNP:promoter:-542C>T (human) RGD PMID:18422436 RGD:7829791 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
JBrowse link
G IRAK3 interleukin 1 receptor associated kinase 3 treatment ISO RGD PMID:28954388 RGD:34888230 NCBI chr 5:30,524,704...30,601,067
Ensembl chr 5:30,526,793...30,609,921
JBrowse link
G LTF lactotransferrin ISO RGD PMID:10030017 RGD:7243953 NCBI chr13:29,413,886...29,445,751
Ensembl chr13:29,413,886...29,445,739
JBrowse link
G STAT2 signal transducer and activator of transcription 2 ameliorates ISO associated with influenza A RGD PMID:30337919 RGD:41789626 NCBI chr 5:21,733,030...21,748,960
Ensembl chr 5:21,733,035...21,751,354
JBrowse link
G TLR2 toll like receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23661603 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
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 chr13:83,063,810...83,174,497
Ensembl chr13:83,065,957...83,174,477
JBrowse link
Staphylococcal Pneumonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 treatment ISO RGD PMID:23613163 RGD:38676477
G CD86 CD86 molecule ISO protein:decreased expression:spleen, plasmacytoid dendritic cell (mouse) RGD PMID:20949109 RGD:4892562 NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,533...138,504,310
JBrowse link
G CFTR CF transmembrane conductance regulator ISO RGD PMID:28289144 RGD:36049750 NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950
JBrowse link
G CSF3 colony stimulating factor 3 treatment ISO RGD PMID:10228098 RGD:11039478 NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,449...22,338,753
JBrowse link
G FN1 fibronectin 1 ISO RGD PMID:12065530 RGD:7205474 NCBI chr15:117,658,158...117,737,145
Ensembl chr15:117,658,099...117,731,014
JBrowse link
G IFNAR1 interferon alpha and beta receptor subunit 1 susceptibility ISO RGD PMID:19603548 RGD:5490273 NCBI chr13:196,925,731...196,951,398
Ensembl chr13:196,925,734...196,952,239
JBrowse link
G IL10 interleukin 10 ISO mRNA, protein:increased expression:lung RGD PMID:22940620 RGD:7364825 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
JBrowse link
G IL15 interleukin 15 ISO RGD PMID:18390740 RGD:4996474 NCBI chr 8:85,666,963...85,740,980
Ensembl chr 8:85,667,321...85,678,461
JBrowse link
G IL33 interleukin 33 ISO mRNA:increased expression:lung: RGD PMID:28401938 RGD:40400699 NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO RGD PMID:20065029 RGD:4142828
G NOD2 nucleotide binding oligomerization domain containing 2 ISO RGD PMID:20493961 RGD:5131444 NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534
JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase ISO protein:increased expression:lung (mouse) RGD PMID:28663335 RGD:13432209 NCBI chr 1:5,698,508...6,731,132
Ensembl chr 1:5,465,312...6,730,872
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 severity ISO mRNA:increased expression:lung
associated with influenza
RGD PMID:31782850 RGD:39131288 NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003
JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 treatment ISO RGD PMID:25445964 RGD:127229910 NCBI chr 7:74,951,145...74,955,255
Ensembl chr 7:74,951,145...74,955,251
JBrowse link
G SFTPB surfactant protein B ameliorates ISO RGD PMID:20007532 RGD:151667448 NCBI chr 3:59,101,940...59,113,442
Ensembl chr 3:59,101,981...59,112,396
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 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
JBrowse link
G IL18 interleukin 18 treatment ISO RGD PMID:21536791 RGD:8655921 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
JBrowse link
G IL33 interleukin 33 treatment ISO mRNA,protein:increased expression:skin RGD PMID:23892028 RGD:40400893 NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 ameliorates ISO RGD PMID:27524612 RGD:127229915 NCBI chr 7:74,951,145...74,955,255
Ensembl chr 7:74,951,145...74,955,251
JBrowse link
G SERPINF1 serpin family F member 1 severity ISO RGD PMID:25515118 RGD:36174009 NCBI chr12:47,949,004...47,959,471
Ensembl chr12:47,948,510...47,959,470
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 chr13:138,427,573...138,504,307
Ensembl chr13:138,427,533...138,504,310
JBrowse link
G IL17A interleukin 17A ISO protein:increased expression:serum (mouse) RGD PMID:22384827 RGD:8698662 NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
JBrowse link
G LCN2 lipocalin 2 ISO mRNA,protein:increased expression:respiratory epithelium, olfactory mucosa epithelium RGD PMID:16153241 RGD:126781709 NCBI chr 1:268,609,975...268,614,651
Ensembl chr 1:268,609,887...268,614,644
JBrowse link
G MX1 MX dynamin like GTPase 1 ISO associated with pharyngitis;protein:increased expression:blood (human) RGD PMID:28077283 RGD:126777682 NCBI chr13:204,843,049...204,868,927
Ensembl chr13:204,843,754...204,868,922
JBrowse link
G TLR2 toll like receptor 2 severity ISO RGD PMID:19179417 RGD:7240559 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
JBrowse link
G TNF tumor necrosis factor ISO associated with Otitis Media RGD PMID:8302123 RGD:11554174 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
JBrowse link
Streptococcus pneumonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATM ATM serine/threonine kinase exacerbates ISO RGD PMID:27421701 RGD:126779562 NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,552
JBrowse link
G BTK Bruton tyrosine kinase ISO RGD PMID:30873567 RGD:124715473 NCBI chr  X:82,981,512...83,014,475
Ensembl chr  X:82,981,515...83,014,573
JBrowse link
G IDO1 indoleamine 2,3-dioxygenase 1 ISO mRNA:increased expression:lung (mouse) RGD PMID:20385761 RGD:39938865 NCBI chr17:9,245,283...9,260,140
Ensembl chr17:9,245,196...9,260,473
JBrowse link
G IFNG interferon gamma ISO protein:increased expression:lung,natural killer cell (mouse) RGD PMID:21887255 RGD:40818252 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:lung,natural killer cell (mouse) RGD PMID:21887255 RGD:40818252 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
JBrowse link
G IRAK3 interleukin 1 receptor associated kinase 3 severity ISO RGD PMID:22492852 RGD:35316076 NCBI chr 5:30,524,704...30,601,067
Ensembl chr 5:30,526,793...30,609,921
JBrowse link
G ITGB2 integrin subunit beta 2 susceptibility ISO RGD PMID:11390487 RGD:127345090 NCBI chr13:207,514,281...207,544,108
Ensembl chr13:207,512,950...207,544,107
JBrowse link
G LAMP1 lysosomal associated membrane protein 1 ISO protein:increased expression:lung, natural killer cell (mouse) RGD PMID:21887255 RGD:40818252 NCBI chr11:78,600,818...78,617,587
Ensembl chr11:78,600,713...78,617,615
JBrowse link
G MARCO macrophage receptor with collagenous structure exacerbates ISO RGD PMID:15263032 RGD:41412189 NCBI chr15:24,502,935...24,541,286
Ensembl chr15:24,503,108...24,541,283
JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 severity ISO RGD PMID:21887255 RGD:40818252 NCBI chr 6:59,092,258...59,099,992
Ensembl chr 6:59,092,911...59,099,990
JBrowse link
G PDCD1 programmed cell death 1 treatment ISO RGD PMID:25624454 RGD:40818422 NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,258...140,347,478
JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta treatment ISO associated with immunodeficiency 14 RGD PMID:30093657 RGD:40890269 NCBI chr 6:70,026,254...70,086,950
Ensembl chr 6:70,026,373...70,084,742
JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma severity ISO RGD PMID:17322108 RGD:38599154 NCBI chr 9:106,698,200...106,748,217
Ensembl chr 9:106,698,207...106,745,099
JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 exacerbates ISO RGD PMID:33625952 RGD:127229925 NCBI chr 7:74,951,145...74,955,255
Ensembl chr 7:74,951,145...74,955,251
JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:lung,natural killer cell (mouse) RGD PMID:21887255 RGD:40818252 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
JBrowse link
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 chr 7:25,045,085...25,056,915
Ensembl chr 7:25,045,685...25,056,300
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 chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162
JBrowse link
G BTNL2 butyrophilin like 2 susceptibility
no_association
ISO DNA:SNPs,haplotypes: : rs3763313, rs9268494, rs9268492(human) RGD PMID:17347014 PMID:20176143 RGD:9685035 RGD:9685036 NCBI chr 7:24,789,988...24,809,920
Ensembl chr 7:24,790,614...24,807,432
JBrowse link
G CBS cystathionine beta-synthase severity ISO protein:increased expression:macrophages (mouse) RGD PMID:31992699 RGD:40903052 NCBI chr13:206,205,942...206,231,363
Ensembl chr13:206,205,946...206,230,248
JBrowse link
G CCL1 C-C motif chemokine ligand 1 susceptibility ISO DNA:SNP: :rs159294, rs210837, rs10491110 (human) RGD PMID:19057661 RGD:4891408 NCBI chr12:40,728,014...40,731,411
Ensembl chr12:40,728,014...40,731,411
JBrowse link
G CCL2 chemokine (C-C motif) 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 chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
JBrowse link
G CCL4 C-C motif chemokine ligand 4 severity ISO associated with human immunodeficiency virus infectious disease;protein:increased expression:blood plasma (human) RGD PMID:31276515 RGD:41404639 NCBI chr12:39,479,190...39,480,511
Ensembl chr12:39,478,882...39,481,082
JBrowse link
G CD209 CD209 molecule susceptibility ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to ClinVar
OMIM
PMID:15564514 PMID:15838506 PMID:16379498 PMID:25741868 NCBI chr 2:71,394,414...71,397,711
Ensembl chr 2:71,394,391...71,397,968
JBrowse link
G CD274 CD274 molecule ISO mRNA, protein:increased expression:blood, neutrophil RGD PMID:21509782 RGD:41412173 NCBI chr 1:216,646,378...216,792,731
Ensembl chr 1:216,660,041...216,792,724
JBrowse link
G CD86 CD86 molecule ISO protein:increased expression:lung (mouse) RGD PMID:18292558 RGD:4892329 NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,533...138,504,310
JBrowse link
G CD8A CD8 subunit alpha susceptibility ISO associated with human immunodeficiency virus infectious disease;mRNA:increased expression:whole blood (human)
mRNA:decreased expression:blood (human)
RGD PMID:26725873 PMID:27553407 RGD:124715445 RGD:124715450 NCBI chr 3:57,999,228...58,029,768
Ensembl chr 3:57,998,891...58,029,760
JBrowse link
G CEBPB CCAAT enhancer binding protein beta ISO mRNA:increased expression:lung, spleen (mouse) RGD PMID:28558034 RGD:40903038 NCBI chr17:51,722,633...51,723,673
Ensembl chr17:51,722,426...51,724,305
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 RGD PMID:12828554 RGD:5491205 NCBI chr 3:32,171,706...32,230,775
Ensembl chr 3:32,172,214...32,230,780
JBrowse link
G CISH cytokine inducible SH2 containing protein susceptibility ISO ClinVar Annotator: match by term: Tuberculosis, susceptibility to OMIM
ClinVar
PMID:20484391 NCBI chr13:33,086,280...33,090,540
Ensembl chr13:33,085,286...33,090,858
JBrowse link
G CORO1A coronin 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16040207 NCBI chr 3:18,336,813...18,342,381
Ensembl chr 3:18,336,898...18,342,396
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 susceptibility ISO DNA:SNP:promoter:-251A>T (human)
protein:increased expression:blood plasma, erythrocyte (human)
RGD PMID:26300588 PMID:32393145 RGD:11250849 RGD:150520198 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 ISO protein:increased expression:serum RGD PMID:19281538 RGD:5135308 NCBI chr 8:71,665,541...71,670,236
Ensembl chr 8:71,663,501...71,670,271
JBrowse link
G CYP2B6B cytochrome P450 family 2 subfamily B member 6B treatment ISO DNA:SNPs: :c.516G>T (rs3745274) and c.785A>G (rs2279343)(human)
associated with human immunodeficiency virus infectious disease; ;DNA:SNP: :516G>T (rs3745274)(human)
RGD PMID:28389387 PMID:30239753 RGD:41410886 RGD:41412160 NCBI chr 6:49,158,175...49,173,872
Ensembl chr 6:49,110,812...49,178,334
JBrowse link
G CYP2C49 cytochrome P450 2C49 treatment ISO DNA:polymorphisms:: CYP2C19*17(rs12248560),CYP2C19*2 (c.681C>A; rs4244285)(human) RGD PMID:27393733 RGD:124713542 NCBI chr14:106,571,803...106,612,082
Ensembl chr14:106,285,173...106,612,455
JBrowse link
G EREG epiregulin susceptibility ISO DNA:SNP:intron: (rs7675690) (human) RGD PMID:22170233 RGD:39457686 NCBI chr 8:70,351,316...70,372,530
Ensembl chr 8:70,351,311...70,372,569
JBrowse link
G HAS1 hyaluronan synthase 1 ISO RGD PMID:19876387 RGD:9588638 NCBI chr 6:58,303,274...58,313,486
Ensembl chr 6:58,302,799...58,313,486
JBrowse link
G HP haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr 6:14,980,382...14,985,245 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 chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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 ClinVar
OMIM
PMID:9389728 PMID:10192386 PMID:11583830 PMID:12516030 PMID:16195661 More... NCBI chr 1:27,037,151...27,061,095
Ensembl chr 1:27,037,165...27,061,093
JBrowse link
G IL12RB1 interleukin 12 receptor subunit beta 1 ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to ClinVar PMID:9603733 PMID:12591909 PMID:28492532 NCBI chr 2:59,707,958...59,736,282
Ensembl chr 2:59,707,961...59,736,282
JBrowse link
G IL15 interleukin 15 ISO mRNA:altered expression:lung, spleen RGD PMID:16367949 RGD:4987456 NCBI chr 8:85,666,963...85,740,980
Ensembl chr 8:85,667,321...85,678,461
JBrowse link
G IL22 interleukin 22 ISO RGD PMID:21767990 RGD:5147402 NCBI chr 5:32,599,522...32,604,507
Ensembl chr 5:32,599,471...32,604,513
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:25511588 PMID:26282876 RGD:11086047 RGD:126790514 NCBI chr 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915
JBrowse link
G IL33 interleukin 33 ISO associated with Pleural Effusion;protein:increased expression:pleural biopsy RGD PMID:25755791 RGD:40400701 NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
JBrowse link
G IRAK3 interleukin 1 receptor associated kinase 3 ISO mRNA, protein:increased expression:sputum (human) RGD PMID:19535630 RGD:36049800 NCBI chr 5:30,524,704...30,601,067
Ensembl chr 5:30,526,793...30,609,921
JBrowse link
G KLRK1 killer cell lectin like receptor K1 treatment ISO RGD PMID:16619285 PMID:23922903 RGD:39018558 RGD:39128143 NCBI chr 5:61,646,691...61,655,386
Ensembl chr 5:61,647,043...61,656,192
JBrowse link
G MAPKAPK3 MAPK activated protein kinase 3 ISO ClinVar Annotator: match by term: Tuberculosis, susceptibility to ClinVar PMID:20484391 NCBI chr13:33,097,329...33,125,820
Ensembl chr13:33,097,393...33,125,818
JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 treatment ISO DNA:SNPs,haplotype: :rs4243387,rs2001350,rs6726395(human) RGD PMID:31586142 RGD:42722614 NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,656...83,146,183
JBrowse link
G NRG1 neuregulin 1 susceptibility ISO DNA:SNP, haplotype: (rs16879814) RGD PMID:25919455 RGD:39456091 NCBI chr15:52,625,550...53,688,003
Ensembl chr15:52,630,679...52,839,505
JBrowse link
G PDCD1 programmed cell death 1 treatment ISO RGD PMID:27865385 RGD:41412174 NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,258...140,347,478
JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO RGD PMID:30514491 RGD:38599199 NCBI chr 9:106,698,200...106,748,217
Ensembl chr 9:106,698,207...106,745,099
JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 exacerbates ISO RGD PMID:29892302 RGD:127229926 NCBI chr 7:74,951,145...74,955,255
Ensembl chr 7:74,951,145...74,955,251
JBrowse link
G SLC11A1 solute carrier family 11 member 1 susceptibility ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to | ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to infection by OMIM
ClinVar
PMID:16103355 PMID:25741868 NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396
JBrowse link
G SP110 SP110 nuclear body protein susceptibility ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to ClinVar
OMIM
PMID:16803959 PMID:16816019 PMID:17149599 PMID:24033266 PMID:25741868 More... NCBI chr15:131,169,911...131,226,543
Ensembl chr15:131,169,917...131,226,544
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 PMID:25741868 PMID:28492532 NCBI chr15:131,225,305...131,292,172
Ensembl chr15:131,226,626...131,292,170
JBrowse link
G SPP1 secreted phosphoprotein 1 ISO RGD PMID:15863395 RGD:1581371 NCBI chr 8:131,077,786...131,085,334
Ensembl chr 8:131,077,786...131,085,340
JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 ISO RGD PMID:29791904 RGD:39128196 NCBI chr 2:141,359,402...141,367,222
Ensembl chr 2:141,358,993...141,367,198
JBrowse link
G TIRAP TIR domain containing adaptor protein ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to ClinVar
OMIM
PMID:16991088 PMID:17322885 PMID:18305471 PMID:25741868 NCBI chr 9:53,374,559...53,394,172
Ensembl chr 9:53,375,644...53,394,165
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 8:30,147,600...30,155,454
Ensembl chr 8:30,147,624...30,155,466
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 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
JBrowse link
G TLR4 toll like receptor 4 ISO RGD PMID:12218133 RGD:4144821 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
JBrowse link
G TLR6 toll like receptor 6 susceptibility ISO DNA:missense mutations:cds:multiple (human) RGD PMID:18091991 RGD:7246918 NCBI chr 8:30,159,744...30,180,650
Ensembl chr 8:30,159,754...30,180,650
JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:serum RGD PMID:20537163 RGD:4143229 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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 6:72,195,420...72,231,146
Ensembl chr 6:72,195,435...72,231,147
JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30202016 NCBI chr 1:255,436,206...255,459,020
Ensembl chr 1:255,432,969...255,459,073
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 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475
JBrowse link
Whipple disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD163 CD163 molecule ISO protein:increased expression:duodenum, macrophage (human) RGD PMID:19664628 RGD:149735573 NCBI chr 5:63,300,200...63,334,497
Ensembl chr 5:63,300,231...63,334,498
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15347
    disease by infectious agent 2126
      Bacterial Infections and Mycoses 1041
        bacterial infectious disease 792
          Gram-Positive Bacterial Infections 383
            Actinomycetales Infections + 310
            Bacillaceae Infections + 8
            Bifidobacteriales Infections 0
            Clostridium Infections + 5
            Erysipelothrix Infections + 0
            Staphylococcal Infections + 31
            Streptococcal Infections + 91
            listeriosis + 16
paths to the root