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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:Mycobacterium Infections
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Accession:DOID:9001415 term browser browse the term
Definition:Infections with bacteria of the genus MYCOBACTERIUM.
Synonyms:exact_synonym: Mycobacterial Disease;   mycobacterium infection
 narrow_synonym: RECURRENT MYCOBACTERIAL INFECTIONS
 related_synonym: Mycobacterial Disease, Mendelian Susceptibility to
 primary_id: MESH:D009164
 xref: EFO:0009429

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Mycobacterium Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd36 CD36 molecule (CD36 blood group) ISO RGD PMID:20950462 RGD:6893545 NCBI chrNW_004955410:5,003,720...5,120,903
Ensembl chrNW_004955410:5,003,668...5,075,313 		JBrowse link
G Ifng interferon gamma ISO associated with Diabetes Mellitus, Insulin-Dependent;mRNA:increased expression:lung RGD PMID:19060451 RGD:2311490 NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045 		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 chrNW_004955436:22,183,318...22,199,013 JBrowse link
G Il22 interleukin 22 ISO RGD PMID:19864591 RGD:5147407 NCBI chrNW_004955458:14,747,339...14,755,602
Ensembl chrNW_004955458:14,747,084...14,752,553 		JBrowse link
G Ripk3 receptor interacting serine/threonine kinase 3 ameliorates ISO RGD PMID:28401933 RGD:127229921 NCBI chrNW_004955409:35,961,604...35,965,477
Ensembl chrNW_004955409:35,937,880...35,965,712 		JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO DNA:point mutation (mouse) RGD PMID:11821237 RGD:5684969 NCBI chrNW_004955453:14,980,562...14,995,118
Ensembl chrNW_004955453:14,980,562...14,995,608 		JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11452125 NCBI chrNW_004955403:8,156,660...8,192,018
Ensembl chrNW_004955403:8,156,660...8,194,762 		JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: therapeutic CTD PMID:15316035 NCBI chrNW_004955486:1,839,642...1,910,080 JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:15316035 PMID:18941223 NCBI chrNW_004955419:12,763,343...12,790,044
Ensembl chrNW_004955419:12,762,748...12,788,117 		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 chrNW_004955458:3,946,964...3,949,180
Ensembl chrNW_004955458:3,947,803...3,949,312 		JBrowse link
G Il4 interleukin 4 ISO CTD Direct Evidence: therapeutic CTD PMID:17387165 NCBI chrNW_004955408:4,058,052...4,065,999 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 chrNW_004955453:14,980,562...14,995,118
Ensembl chrNW_004955453:14,980,562...14,995,608 		JBrowse link
extrapulmonary tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cxcl8 C-X-C motif chemokine ligand 8 ISO protein:increased expression:serum (human) RGD PMID:16001981 RGD:39939055 NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643 		JBrowse link
G Ereg epiregulin susceptibility ISO DNA:SNP:exon 4: (rs2367707) (human) RGD PMID:30634928 RGD:39457687 NCBI chrNW_004955474:612,440...627,606
Ensembl chrNW_004955474:612,440...627,606 		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 chrNW_004955408:3,882,282...3,887,965
Ensembl chrNW_004955408:3,880,155...3,887,973 		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 chrNW_004955439:608,849...641,005
Ensembl chrNW_004955439:608,861...641,005 		JBrowse link
G Card11 caspase recruitment domain family member 11 ISO ClinVar Annotator: match by term: IFNGR1 DEFICIENCY, AUTOSOMAL RECESSIVE ClinVar PMID:25741868 NCBI chrNW_004955460:12,368,987...12,487,675
Ensembl chrNW_004955460:12,368,918...12,490,041 		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 chrNW_004955436:22,183,318...22,199,013 JBrowse link
G Ifngr2 interferon gamma receptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chrNW_004955407:32,846,927...32,863,155
Ensembl chrNW_004955407:32,843,846...32,862,997 		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 chrNW_004955524:3,276,932...3,299,617 JBrowse link
G Il20ra interleukin 20 receptor subunit alpha ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chrNW_004955436:22,281,422...22,323,242
Ensembl chrNW_004955436:22,281,713...22,326,229 		JBrowse link
G Il22ra2 interleukin 22 receptor subunit alpha 2 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chrNW_004955436:22,208,267...22,219,667
Ensembl chrNW_004955436:22,211,175...22,220,566 		JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chrNW_004955439:162,499...376,919
Ensembl chrNW_004955439:163,103...377,808 		JBrowse link
G Map7 microtubule associated protein 7 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chrNW_004955439:404,212...548,732 JBrowse link
G Mtfr2 mitochondrial fission regulator 2 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chrNW_004955439:643,289...662,921
Ensembl chrNW_004955439:646,432...663,033 		JBrowse link
G Pde7b phosphodiesterase 7B ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chrNW_004955439:686,197...985,591
Ensembl chrNW_004955439:686,130...985,732 		JBrowse link
G Pex7 peroxisomal biogenesis factor 7 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chrNW_004955439:71,302...138,278
Ensembl chrNW_004955439:71,302...138,278 		JBrowse link
G Slc35d3 solute carrier family 35 member D3 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chrNW_004955439:60,689...63,968
Ensembl chrNW_004955439:60,615...64,052 		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 chrNW_004955403:9,132,988...9,174,959
Ensembl chrNW_004955403:9,133,009...9,173,451 		JBrowse link
G Asnsd1 asparagine synthetase domain containing 1 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chrNW_004955403:9,176,425...9,184,310 JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chrNW_004955403:9,720,831...9,758,019
Ensembl chrNW_004955403:9,721,114...9,757,887 		JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chrNW_004955403:9,562,401...9,703,828
Ensembl chrNW_004955403:9,562,401...9,703,828 		JBrowse link
G Gls glutaminase ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chrNW_004955403:8,195,241...8,261,402
Ensembl chrNW_004955403:8,195,255...8,261,402 		JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chrNW_004955403:8,752,339...8,796,693
Ensembl chrNW_004955403:8,752,309...8,792,927 		JBrowse link
G Inpp1 inositol polyphosphate-1-phosphatase ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chrNW_004955403:8,713,565...8,742,725 JBrowse link
G LOC102003714 chromosome unknown open reading frame, human C2orf88 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chrNW_004955403:8,797,416...8,847,431 JBrowse link
G Mfsd6 major facilitator superfamily domain containing 6 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chrNW_004955403:8,624,211...8,683,815
Ensembl chrNW_004955403:8,625,959...8,683,815 		JBrowse link
G Mstn myostatin ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chrNW_004955403:8,914,505...8,921,190
Ensembl chrNW_004955403:8,914,482...8,923,465 		JBrowse link
G Nab1 NGFI-A binding protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chrNW_004955403:8,456,572...8,487,749
Ensembl chrNW_004955403:8,456,572...8,487,749 		JBrowse link
G Nemp2 nuclear envelope integral membrane protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chrNW_004955403:8,602,056...8,620,417
Ensembl chrNW_004955403:8,596,778...8,618,508 		JBrowse link
G Ormdl1 ORMDL sphingolipid biosynthesis regulator 1 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chrNW_004955403:9,100,516...9,113,230
Ensembl chrNW_004955403:9,100,516...9,113,223 		JBrowse link
G Osgepl1 O-sialoglycoprotein endopeptidase like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chrNW_004955403:9,118,419...9,136,840
Ensembl chrNW_004955403:9,118,406...9,138,710 		JBrowse link
G Pms1 PMS1 homolog 1, mismatch repair system component ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chrNW_004955403:9,021,488...9,100,442
Ensembl chrNW_004955403:9,022,078...9,100,442 		JBrowse link
G Slc40a1 solute carrier family 40 member 1 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chrNW_004955403:9,253,734...9,271,732
Ensembl chrNW_004955403:9,253,734...9,271,916 		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 chrNW_004955403:8,156,660...8,192,018
Ensembl chrNW_004955403:8,156,660...8,194,762 		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 chrNW_004955403:8,061,471...8,144,252
Ensembl chrNW_004955403:8,061,471...8,144,276 		JBrowse link
G Wdr75 WD repeat domain 75 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chrNW_004955403:9,352,615...9,383,206
Ensembl chrNW_004955403:9,352,615...9,383,206 		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 chrNW_004955580:459,715...475,363
Ensembl chrNW_004955580:459,715...475,774 		JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:586,986...600,299 JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:286,092...332,657
Ensembl chrNW_004955580:269,100...333,471 		JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:927,546...934,633
Ensembl chrNW_004955580:927,114...934,734 		JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:583,827...586,739
Ensembl chrNW_004955580:583,480...586,456 		JBrowse link
G Bcap31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:429,223...459,168
Ensembl chrNW_004955580:428,644...459,168 		JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:252,183...263,179
Ensembl chrNW_004955580:252,139...263,663 		JBrowse link
G Brcc3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955594:551,407...613,772
Ensembl chrNW_004955594:554,081...613,661 		JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:336,681...349,435
Ensembl chrNW_004955580:336,681...349,435 		JBrowse link
G Clic2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955594:374,332...393,802
Ensembl chrNW_004955594:374,208...393,389 		JBrowse link
G Cmc4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955594:618,516...624,780
Ensembl chrNW_004955594:618,516...624,780 		JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955594:846,997...857,255
Ensembl chrNW_004955594:847,815...856,510 		JBrowse link
G Dnase1l1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:907,056...913,604
Ensembl chrNW_004955580:907,582...914,243 		JBrowse link
G Dusp9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:388,277...392,269
Ensembl chrNW_004955580:388,850...391,455 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:864,532...866,904
Ensembl chrNW_004955580:864,532...866,904 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955594:658,686...800,101
Ensembl chrNW_004955594:658,523...802,865 		JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:1,025,481...1,036,752
Ensembl chrNW_004955580:1,029,553...1,036,849 		JBrowse link
G Fam50a family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:941,620...947,763 JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:874,233...895,172
Ensembl chrNW_004955580:874,233...895,232 		JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955594:627,839...656,241
Ensembl chrNW_004955594:625,701...656,400 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:1,045,294...1,058,129
Ensembl chrNW_004955580:1,045,294...1,057,083 		JBrowse link
G Gab3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955594:882,921...955,079
Ensembl chrNW_004955594:912,108...956,037 		JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:935,021...941,081
Ensembl chrNW_004955580:934,798...941,081 		JBrowse link
G Haus7 HAUS augmin like complex subunit 7 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:210,799...230,450
Ensembl chrNW_004955580:210,820...230,734 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:616,477...636,849
Ensembl chrNW_004955580:616,477...635,597 		JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:500,712...507,512
Ensembl chrNW_004955580:500,825...507,608 		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 chrNW_004955580:1,053,823...1,069,802
Ensembl chrNW_004955580:1,053,823...1,069,802 		JBrowse link
G Il9r interleukin 9 receptor ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955442:17,115,207...17,128,899
Ensembl chrNW_004955442:17,117,429...17,127,451 		JBrowse link
G Irak1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:663,651...668,622
Ensembl chrNW_004955580:661,609...668,622 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:548,442...561,580
Ensembl chrNW_004955580:549,368...561,486 		JBrowse link
G Lage3 L antigen family member 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:992,190...993,617
Ensembl chrNW_004955580:992,190...993,617 		JBrowse link
G LOC102021406 histone H2A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955593:911,641...911,919 JBrowse link
G Mecp2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:674,014...737,586
Ensembl chrNW_004955580:679,109...735,288 		JBrowse link
G Mpp1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955594:831,100...846,438
Ensembl chrNW_004955594:831,098...846,866 		JBrowse link
G Mtcp1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955594:614,422...620,142
Ensembl chrNW_004955594:614,422...620,142 		JBrowse link
G Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:604,805...609,978
Ensembl chrNW_004955580:603,331...612,608 		JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:512,963...535,911
Ensembl chrNW_004955580:512,925...535,917 		JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:958,033...972,123
Ensembl chrNW_004955580:957,860...972,772 		JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:482,602...495,628
Ensembl chrNW_004955580:484,805...495,445 		JBrowse link
G Pnck pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:401,411...406,663
Ensembl chrNW_004955580:401,297...405,065 		JBrowse link
G Rab39b RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955594:424,642...431,009
Ensembl chrNW_004955594:424,504...431,009 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:610,112...615,019
Ensembl chrNW_004955580:609,964...615,027 		JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:903,618...906,439
Ensembl chrNW_004955580:903,412...906,439 		JBrowse link
G Slc10a3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:1,002,029...1,005,673
Ensembl chrNW_004955580:1,002,029...1,005,673 		JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:419,696...426,727 JBrowse link
G Smim9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955594:803,406...816,735 JBrowse link
G Spry3 sprouty RTK signaling antagonist 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955594:151,117...158,627
Ensembl chrNW_004955594:151,117...158,627 		JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:496,447...500,709
Ensembl chrNW_004955580:496,451...500,709 		JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:507,672...511,498
Ensembl chrNW_004955580:507,672...511,498 		JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:915,668...921,703
Ensembl chrNW_004955580:915,188...922,791 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:781,339...791,284 JBrowse link
G Tktl1 transketolase like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:829,653...851,422
Ensembl chrNW_004955580:829,594...851,470 		JBrowse link
G Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955594:272,668...329,997
Ensembl chrNW_004955594:272,646...331,757 		JBrowse link
G Trex2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:207,903...209,426
Ensembl chrNW_004955580:207,903...209,426 		JBrowse link
G Ubl4a ubiquitin like 4A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955580:998,953...1,001,368
Ensembl chrNW_004955580:997,204...1,001,368 		JBrowse link
G Vamp7 vesicle associated membrane protein 7 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955594:20,496...72,648
Ensembl chrNW_004955594:18,727...72,654 		JBrowse link
G Vbp1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004955594:450,048...477,504
Ensembl chrNW_004955594:447,750...477,796 		JBrowse link
immunodeficiency 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC102012042 cytochrome b-245 heavy chain 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 chrNW_004955587:781,533...818,149
Ensembl chrNW_004955587:781,388...819,912 		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 chrNW_004955486:9,495,087...9,508,047
Ensembl chrNW_004955486:9,495,186...9,508,214 		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 chrNW_004955486:8,465,523...8,466,841
Ensembl chrNW_004955486:8,465,620...8,466,744 		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 chrNW_004955486:9,674,103...9,704,994
Ensembl chrNW_004955486:9,675,214...9,704,991 		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 chrNW_004955486:9,383,502...9,384,519 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 chrNW_004955486:8,109,291...8,128,184
Ensembl chrNW_004955486:8,109,291...8,123,404 		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 chrNW_004955486:9,437,511...9,438,945
Ensembl chrNW_004955486:9,437,958...9,438,857 		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 chrNW_004955486:9,553,765...9,555,675
Ensembl chrNW_004955486:9,554,435...9,555,459 		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 chrNW_004955486:9,541,466...9,545,231
Ensembl chrNW_004955486:9,541,367...9,547,097 		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 chrNW_004955486:7,895,376...7,907,678 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 chrNW_004955486:9,423,491...9,432,811
Ensembl chrNW_004955486:9,423,491...9,432,811 		JBrowse link
G Cdk11b cyclin dependent kinase 11B ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004955486:9,251,242...9,270,218 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 chrNW_004955486:7,849,921...7,877,598
Ensembl chrNW_004955486:7,853,641...7,876,047 		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 chrNW_004955486:9,056,836...9,107,572
Ensembl chrNW_004955486:9,057,030...9,107,600 		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 chrNW_004955486:9,475,520...9,478,925
Ensembl chrNW_004955486:9,475,520...9,478,925 		JBrowse link
G CUNH1orf159 chromosome unknown C1orf159 homolog 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 chrNW_004955486:9,632,940...9,659,682
Ensembl chrNW_004955486:9,638,645...9,659,682 		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 chrNW_004955486:9,464,390...9,469,984
Ensembl chrNW_004955486:9,464,313...9,469,984 		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 chrNW_004955486:8,938,352...8,944,631 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 chrNW_004955486:9,301,802...9,303,246 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 chrNW_004955486:9,035,330...9,039,553
Ensembl chrNW_004955486:9,035,330...9,039,557 		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 chrNW_004955486:9,165,850...9,192,306
Ensembl chrNW_004955486:9,165,850...9,193,066 		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 chrNW_004955486:8,700,212...8,701,581
Ensembl chrNW_004955486:8,700,162...8,701,748 		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 chrNW_004955486:9,479,057...9,491,629
Ensembl chrNW_004955486:9,479,057...9,491,629 		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 chrNW_004955486:9,706,878...9,707,876
Ensembl chrNW_004955486:9,706,703...9,707,949 		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 chrNW_004955486:9,745,162...9,750,874
Ensembl chrNW_004955486:9,745,162...9,750,874 		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 chrNW_004955486:7,880,259...7,890,709
Ensembl chrNW_004955486:7,880,259...7,889,274 		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 chrNW_004955486:8,029,200...8,103,395
Ensembl chrNW_004955486:8,029,200...8,102,876 		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 chrNW_004955486:9,273,580...9,285,682
Ensembl chrNW_004955486:9,271,099...9,285,682 		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 chrNW_004955486:8,635,727...8,662,793
Ensembl chrNW_004955486:8,638,233...8,663,053 		JBrowse link
G Mmp23b matrix metallopeptidase 23B 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 chrNW_004955486:9,270,588...9,272,310
Ensembl chrNW_004955486:9,270,484...9,272,420 		JBrowse link
G Morn1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004955486:8,802,800...8,850,635
Ensembl chrNW_004955486:8,802,975...8,850,445 		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 chrNW_004955486:9,417,925...9,420,789 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 chrNW_004955486:9,452,707...9,456,640 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 chrNW_004955486:9,191,923...9,217,547
Ensembl chrNW_004955486:9,191,923...9,217,538 		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 chrNW_004955486:9,750,969...9,763,622
Ensembl chrNW_004955486:9,751,053...9,767,104 		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 chrNW_004955486:8,703,236...8,716,017
Ensembl chrNW_004955486:8,702,909...8,716,377 		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 chrNW_004955486:8,785,199...8,801,914
Ensembl chrNW_004955486:8,785,174...8,791,247 		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 chrNW_004955486:8,717,799...8,785,144
Ensembl chrNW_004955486:8,718,155...8,775,228 		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 chrNW_004955486:9,736,801...9,744,659
Ensembl chrNW_004955486:9,737,365...9,744,111 		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 chrNW_004955486:8,139,848...8,327,788
Ensembl chrNW_004955486:8,137,531...8,327,977 		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 chrNW_004955486:8,947,579...9,021,702
Ensembl chrNW_004955486:8,947,579...9,021,702 		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 chrNW_004955486:8,663,708...8,666,369
Ensembl chrNW_004955486:8,663,595...8,666,469 		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 chrNW_004955486:9,491,613...9,494,746
Ensembl chrNW_004955486:9,491,506...9,494,520 		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 chrNW_004955486:8,791,457...8,802,691
Ensembl chrNW_004955486:8,791,457...8,802,691 		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 chrNW_004955486:9,658,706...9,665,467
Ensembl chrNW_004955486:9,662,186...9,665,467 		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 chrNW_004955486:9,763,704...9,781,132
Ensembl chrNW_004955486:9,763,725...9,779,197 		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 chrNW_004955486:9,508,435...9,514,107 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 chrNW_004955486:9,555,773...9,565,310
Ensembl chrNW_004955486:9,555,364...9,567,340 		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 chrNW_004955486:8,857,693...8,921,821
Ensembl chrNW_004955486:8,857,693...8,921,821 		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 chrNW_004955486:7,889,510...7,895,281
Ensembl chrNW_004955486:7,889,510...7,894,567 		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 chrNW_004955486:9,317,078...9,338,414
Ensembl chrNW_004955486:9,317,078...9,338,414 		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 chrNW_004955486:9,469,954...9,475,421
Ensembl chrNW_004955486:9,470,626...9,473,780 		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 chrNW_004955486:9,339,489...9,344,025
Ensembl chrNW_004955486:9,339,479...9,344,025 		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 chrNW_004955486:9,107,254...9,111,006
Ensembl chrNW_004955486:9,109,431...9,110,668 		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 chrNW_004955486:9,376,707...9,379,315
Ensembl chrNW_004955486:9,376,707...9,379,315 		JBrowse link
G Tnfrsf14 TNF receptor superfamily member 14 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 chrNW_004955486:8,670,182...8,684,677 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 chrNW_004955486:9,571,527...9,573,733
Ensembl chrNW_004955486:9,571,530...9,573,733 		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 chrNW_004955486:9,565,424...9,569,836
Ensembl chrNW_004955486:9,567,220...9,569,676 		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 chrNW_004955486:7,914,608...7,961,992
Ensembl chrNW_004955486:7,914,440...7,952,982 		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 chrNW_004955486:8,007,678...8,013,996
Ensembl chrNW_004955486:8,007,842...8,013,910 		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 chrNW_004955486:8,620,609...8,633,069
Ensembl chrNW_004955486:8,620,516...8,631,399 		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 chrNW_004955486:9,576,174...9,589,297 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 chrNW_004955486:9,519,467...9,539,666
Ensembl chrNW_004955486:9,524,459...9,540,562 		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 chrNW_004955486:9,365,920...9,369,117
Ensembl chrNW_004955486:9,366,796...9,369,115 		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 chrNW_004955486:7,992,684...8,006,121
Ensembl chrNW_004955486:7,992,015...8,006,115 		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 chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045 		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 chrNW_004955409:3,642,113...3,670,779
Ensembl chrNW_004955409:3,645,555...3,670,551 		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 chrNW_004955451:13,315,237...13,317,888
Ensembl chrNW_004955451:13,315,859...13,325,937 		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 subfamily B 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 chrNW_004955432:4,911,774...5,085,349 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 chrNW_004955462:9,840,188...9,869,938 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 chrNW_004955447:16,149,014...16,226,151
Ensembl chrNW_004955447:16,148,605...16,226,734 		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 chrNW_004955495:2,796,601...2,824,233
Ensembl chrNW_004955495:2,796,663...2,824,697 		JBrowse link
G Cfb complement factor B severity ISO RGD PMID:6342123 RGD:7411735 NCBI chrNW_004955437:461,235...466,908
Ensembl chrNW_004955437:461,235...470,464 		JBrowse link
G Il27 interleukin 27 ameliorates ISO mRNA:decreased expression:skin of body (human) RGD PMID:26030183 RGD:126790539 NCBI chrNW_004955493:6,712,005...6,717,417
Ensembl chrNW_004955493:6,712,005...6,717,417 		JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:SNP:cds:161G>A (human) RGD PMID:20650301 RGD:8694069 NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006 		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 chrNW_004955815:2,852...11,035
Ensembl chrNW_004955815:2,846...11,035 		JBrowse link
G Ccdc122 coiled-coil domain containing 122 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:25741868 NCBI chrNW_004955518:1,746,832...1,776,266
Ensembl chrNW_004955518:1,746,744...1,784,928 		JBrowse link
G Ccdc88b coiled-coil domain containing 88B ISO CTD Direct Evidence: marker/mechanism CTD PMID:25642632 NCBI chrNW_004955422:20,738,202...20,751,016
Ensembl chrNW_004955422:20,738,645...20,750,945 		JBrowse link
G Cd8a CD8 subunit alpha exacerbates ISO mRNA:increased expression:blood (human) RGD PMID:31784594 RGD:124715449 NCBI chrNW_004955424:952,595...979,159
Ensembl chrNW_004955424:952,502...978,636 		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 chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643 		JBrowse link
G Il10 interleukin 10 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:28492532 NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779 		JBrowse link
G Il17a interleukin 17A severity ISO mRNA:decreased expression:epidermis (human) RGD PMID:22641009 RGD:8698644 NCBI chrNW_004955411:5,896,435...5,899,911
Ensembl chrNW_004955411:5,896,702...5,900,962 		JBrowse link
G Il19 interleukin 19 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:28492532 NCBI chrNW_004955406:42,376,102...42,384,902
Ensembl chrNW_004955406:42,376,104...42,384,902 		JBrowse link
G Il23r interleukin 23 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22019778 NCBI chrNW_004955423:23,841,342...23,885,191
Ensembl chrNW_004955423:23,842,475...23,884,904 		JBrowse link
G Lacc1 laccase domain containing 1 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:25741868 NCBI chrNW_004955518:1,794,067...1,809,150
Ensembl chrNW_004955518:1,793,352...1,805,808 		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 chrNW_004955505:84,324...216,923
Ensembl chrNW_004955505:81,796...216,923 		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 chrNW_004955437:114,216...116,003
Ensembl chrNW_004955437:114,640...115,529 		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 chrNW_004955429:10,139,398...10,232,541
Ensembl chrNW_004955429:10,139,355...10,232,600 		JBrowse link
G Nod2 nucleotide binding oligomerization domain containing 2 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chrNW_004955433:8,746,213...8,780,119
Ensembl chrNW_004955433:8,746,004...8,782,710 		JBrowse link
G Parl presenilin associated rhomboid like ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chrNW_004955420:23,549,125...23,581,782
Ensembl chrNW_004955420:23,548,672...23,582,137 		JBrowse link
G Pink1 PTEN induced kinase 1 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chrNW_004955452:1,171,115...1,186,338
Ensembl chrNW_004955452:1,171,205...1,185,125 		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 chrNW_004955439:18,664,230...19,953,358
Ensembl chrNW_004955439:18,664,379...19,951,152 		JBrowse link
G Rab32 RAB32, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:22019778 NCBI chrNW_004955436:14,171,123...14,177,255
Ensembl chrNW_004955436:14,171,123...14,177,577 		JBrowse link
G Ripk2 receptor interacting serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chrNW_004955417:6,669,675...6,698,142
Ensembl chrNW_004955417:6,669,675...6,702,228 		JBrowse link
G Slc11a1 solute carrier family 11 member 1 susceptibility ISO DNA:polymorphisms, haplotype (human)
CTD Direct Evidence: marker/mechanism
DNA:repeat:promoter (human)		 RGD
CTD		 PMID:10608779 PMID:15755200 PMID:16597321 RGD:5684957 RGD:5684972 NCBI chrNW_004955453:14,980,562...14,995,118
Ensembl chrNW_004955453:14,980,562...14,995,608 		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 chrNW_004955443:8,442,419...8,450,318
Ensembl chrNW_004955443:8,447,956...8,450,382 		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 chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258 		JBrowse link
G Tlr6 toll like receptor 6 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chrNW_004955443:8,401,461...8,427,175
Ensembl chrNW_004955443:8,422,534...8,424,942 		JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:SNP:promoter:−308G>A (human) RGD PMID:20650301 RGD:8694069 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700 		JBrowse link
G Tnfsf15 TNF superfamily member 15 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chrNW_004955419:12,863,617...12,884,498
Ensembl chrNW_004955419:12,863,615...12,879,517 		JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25320285 NCBI chrNW_004955419:12,763,343...12,790,044
Ensembl chrNW_004955419:12,762,748...12,788,117 		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 chrNW_004955493:5,546,340...5,580,745
Ensembl chrNW_004955493:5,545,944...5,582,422 		JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:10318940 RGD:10449456 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700 		JBrowse link
Multibacillary Leprosy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ggt1 gamma-glutamyltransferase 1 ISO protein:increased activity:blood: RGD PMID:1680936 RGD:14747017 NCBI chrNW_004955455:8,082,578...8,099,523 JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO DNA:insertion/deletion:3' utr (human) RGD PMID:11791966 RGD:5684970 NCBI chrNW_004955453:14,980,562...14,995,118
Ensembl chrNW_004955453:14,980,562...14,995,608 		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 chrNW_004955543:731,707...742,606
Ensembl chrNW_004955543:731,707...742,606 		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 chrNW_004955420:20,911,181...20,922,992
Ensembl chrNW_004955420:20,912,348...20,914,402 		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 chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643 		JBrowse link
G Il17a interleukin 17A ISO RGD PMID:20797909 RGD:4888520 NCBI chrNW_004955411:5,896,435...5,899,911
Ensembl chrNW_004955411:5,896,702...5,900,962 		JBrowse link
G Tnf tumor necrosis factor ISO associated with HIV Infections RGD PMID:7640175 RGD:10450731 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700 		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 chrNW_004955432:23,179,645...23,328,347
Ensembl chrNW_004955432:23,178,866...23,328,382 		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 chrNW_004955436:22,183,318...22,199,013 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 chrNW_004955408:13,302,506...13,316,300
Ensembl chrNW_004955408:13,304,219...13,312,620 		JBrowse link
G Il18 interleukin 18 ISO RGD PMID:21045270 RGD:4889546 NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634 		JBrowse link
G Il1r1 interleukin 1 receptor type 1 ISO RGD PMID:16797208 RGD:5037237 NCBI chrNW_004955470:7,685,498...7,703,374 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 chrNW_004955436:22,281,422...22,323,242
Ensembl chrNW_004955436:22,281,713...22,326,229 		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 chrNW_004955436:22,208,267...22,219,667
Ensembl chrNW_004955436:22,211,175...22,220,566 		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 chrNW_004955436:21,929,086...21,929,904
Ensembl chrNW_004955436:21,929,086...21,929,904 		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 chrNW_004955439:71,302...138,278
Ensembl chrNW_004955439:71,302...138,278 		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 chrNW_004955439:60,689...63,968
Ensembl chrNW_004955439:60,615...64,052 		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 chrNW_004955403:8,156,660...8,192,018
Ensembl chrNW_004955403:8,156,660...8,194,762 		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 chrNW_004955436:21,566,591...21,581,551
Ensembl chrNW_004955436:21,566,423...21,578,469 		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 chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779 		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 chrNW_004955413:4,652,156...4,660,897
Ensembl chrNW_004955413:4,652,308...4,660,304 		JBrowse link
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chrNW_004955495:2,796,601...2,824,233
Ensembl chrNW_004955495:2,796,663...2,824,697 		JBrowse link
G F2 coagulation factor II, thrombin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chrNW_004955422:1,356,675...1,367,788
Ensembl chrNW_004955422:1,356,769...1,367,517 		JBrowse link
G Gsn gelsolin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chrNW_004955419:6,682,202...6,733,361
Ensembl chrNW_004955419:6,682,058...6,733,361 		JBrowse link
G LOC102027549 serotransferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chrNW_004955501:4,801,710...4,832,025
Ensembl chrNW_004955501:4,801,885...4,831,910 		JBrowse link
Paucibacillary Leprosy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ggt1 gamma-glutamyltransferase 1 ISO protein:increased activity:blood: RGD PMID:1680936 RGD:14747017 NCBI chrNW_004955455:8,082,578...8,099,523 JBrowse link
pleural tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO protein:increased activity:pleural fluid:
protein:increased activity:serum:
protein:increased expression:serum:		 RGD PMID:1689629 PMID:1818842 PMID:18357489 PMID:21860532 RGD:152995280 RGD:152995288 RGD:152995292 RGD:152998934 NCBI chrNW_004955445:12,696,096...12,717,488
Ensembl chrNW_004955445:12,696,096...12,717,488 		JBrowse link
G Ada2 adenosine deaminase 2 treatment ISO RGD PMID:8656037 RGD:152995258 NCBI chrNW_004955454:5,341,822...5,355,383 JBrowse link
G Ccl22 C-C motif chemokine ligand 22 ISO RGD PMID:20337996 RGD:4891473 NCBI chrNW_004955433:15,002,001...15,007,324
Ensembl chrNW_004955433:15,001,930...15,008,032 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO RGD PMID:19159432 RGD:4145106 NCBI chrNW_004955420:25,641,184...25,664,413 JBrowse link
G Foxp3 forkhead box P3 disease_progression ISO associated with human immunodeficiency virus infectious disease; RGD PMID:21303360 RGD:36947878 NCBI chrNW_004955543:731,707...742,606
Ensembl chrNW_004955543:731,707...742,606 		JBrowse link
G Il1b interleukin 1 beta ISO DNA:polymorphism: :3953T>C (human) RGD PMID:10377182 RGD:4143226 NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO DNA:repeat (human) RGD PMID:10377182 RGD:4143226 NCBI chrNW_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471 		JBrowse link
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 chrNW_004955493:6,712,005...6,717,417
Ensembl chrNW_004955493:6,712,005...6,717,417 		JBrowse link
G Il33 interleukin 33 ISO protein:increased expression:pleural fluid: RGD PMID:23301222 RGD:39939042 NCBI chrNW_004955434:10,145,449...10,187,595
Ensembl chrNW_004955434:10,171,812...10,188,948 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:pleura: RGD PMID:18715875 RGD:5129700 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288 		JBrowse link
G Tlr4 toll like receptor 4 ISO RGD PMID:18295348 RGD:4144193 NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135 		JBrowse link
G Tnc tenascin C ISO protein:increased expression:pleura RGD PMID:10950882 RGD:4889594 NCBI chrNW_004955419:12,569,620...12,662,897
Ensembl chrNW_004955419:12,569,547...12,662,958 		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 subfamily B member 1 treatment ISO DNA:SNP: :2677G>A (human) RGD PMID:26067842 RGD:11098541 NCBI chrNW_004955432:4,911,774...5,085,349 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 chrNW_004955445:12,696,096...12,717,488
Ensembl chrNW_004955445:12,696,096...12,717,488 		JBrowse link
G Ada2 adenosine deaminase 2 ISO protein:increased activity:sputum: RGD PMID:19460251 RGD:152995271 NCBI chrNW_004955454:5,341,822...5,355,383 JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:plasma RGD PMID:22022605 RGD:5686405 NCBI chrNW_004955420:20,911,181...20,922,992
Ensembl chrNW_004955420:20,912,348...20,914,402 		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 NCBI chrNW_004955538:3,208,711...3,224,386
Ensembl chrNW_004955538:3,208,710...3,229,904 		JBrowse link
G Alox5 arachidonate 5-lipoxygenase susceptibility ISO DNA:polymorphism, repeat:promoter, exon:g.760G>A (human) RGD PMID:18174194 RGD:4890411 NCBI chrNW_004955546:2,495,226...2,550,909
Ensembl chrNW_004955546:2,494,819...2,550,909 		JBrowse link
G Asap1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25774636 NCBI chrNW_004955461:4,813,228...5,083,548
Ensembl chrNW_004955461:4,811,069...5,133,257 		JBrowse link
G Atf3 activating transcription factor 3 ISO mRNA,protein:increased expression:lung RGD PMID:20856677 RGD:34888225 NCBI chrNW_004955406:4,875,672...4,889,173
Ensembl chrNW_004955406:4,875,613...4,889,242 		JBrowse link
G C3 complement C3 ISO RGD PMID:19472039 RGD:5129500 NCBI chrNW_004955495:2,796,601...2,824,233
Ensembl chrNW_004955495:2,796,663...2,824,697 		JBrowse link
G Ccl1 C-C motif chemokine ligand 1 susceptibility ISO DNA:SNP: :multiple (human)
mRNA:increased expression:lung, dendritic cell		 RGD PMID:18703681 PMID:19057661 RGD:4891408 RGD:4891409 NCBI chrNW_004955481:9,085,943...9,089,147 JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO mRNA:increased expression:lung RGD PMID:19933855 RGD:5130906 NCBI chrNW_004955472:1,444,598...1,446,488
Ensembl chrNW_004955472:1,444,316...1,446,490 		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 chrNW_004955481:10,293,758...10,301,118
Ensembl chrNW_004955481:10,293,399...10,301,143 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 disease_progression ISO RGD PMID:11438742 RGD:734715 NCBI chrNW_004955420:25,641,184...25,664,413 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 chrNW_004955418:73,736...75,345
Ensembl chrNW_004955418:73,897...75,224 		JBrowse link
G Cd274 CD274 molecule ISO protein:increased expression:Tcell, B cell, monocyte RGD PMID:23661793 RGD:40818418 NCBI chrNW_004955434:9,487,309...9,508,366
Ensembl chrNW_004955434:9,487,315...9,505,904 		JBrowse link
G Cd36 CD36 molecule (CD36 blood group) susceptibility ISO DNA:SNPs: :rs1194182, rs10499859(human) RGD PMID:28693442 RGD:41412192 NCBI chrNW_004955410:5,003,720...5,120,903
Ensembl chrNW_004955410:5,003,668...5,075,313 		JBrowse link
G Cd86 CD86 molecule ISO protein:decreased expression:sputum, macrophage (human) RGD PMID:17713660 RGD:4892339 NCBI chrNW_004955427:21,375,820...21,436,767
Ensembl chrNW_004955427:21,375,794...21,435,874 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 treatment ISO RGD PMID:29843631 RGD:27095956 NCBI chrNW_004955433:748,392...750,890
Ensembl chrNW_004955433:748,284...750,927 		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 chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643 		JBrowse link
G Ddit3 DNA damage inducible transcript 3 ISO mRNA,protein:increased expression:lung RGD PMID:20856677 RGD:34888225 NCBI chrNW_004955458:5,232,979...5,238,513
Ensembl chrNW_004955458:5,232,979...5,238,513 		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 chrNW_004955456:321,222...456,431 JBrowse link
G Ereg epiregulin susceptibility ISO DNA:SNP:exon 4: (rs2367707) (human) RGD PMID:30634928 RGD:39457687 NCBI chrNW_004955474:612,440...627,606
Ensembl chrNW_004955474:612,440...627,606 		JBrowse link
G Foxp3 forkhead box P3 susceptibility ISO DNA:polymorphism:promoter:-924A>G(human) RGD PMID:29020928 RGD:38501101 NCBI chrNW_004955543:731,707...742,606
Ensembl chrNW_004955543:731,707...742,606 		JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO DNA:SNP:intron:rs2307058 (human) RGD PMID:28355295 RGD:18337291 NCBI chrNW_004955407:10,692,082...10,959,236
Ensembl chrNW_004955407:10,692,303...10,963,489 		JBrowse link
G Havcr2 hepatitis A virus cellular receptor 2 ISO RGD PMID:21382414 RGD:5135524 NCBI chrNW_004955408:11,289,920...11,311,216
Ensembl chrNW_004955408:11,291,937...11,311,320 		JBrowse link
G Ido1 indoleamine 2,3-dioxygenase 1 treatment ISO RGD PMID:32369456 RGD:39939073 NCBI chrNW_004955536:2,944,770...2,955,829
Ensembl chrNW_004955536:2,943,611...2,955,829 		JBrowse link
G Il13 interleukin 13 ISO mRNA:increased expression:Leukocytes, Mononuclear RGD PMID:10608794 RGD:4145649 NCBI chrNW_004955408:4,046,406...4,049,795 JBrowse link
G Il15 interleukin 15 ISO mRNA, protein:increased expression:lung RGD PMID:11742275 RGD:4990461 NCBI chrNW_004955471:1,496,352...1,583,919
Ensembl chrNW_004955471:1,497,483...1,511,469 		JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:serum RGD PMID:15955140 RGD:4889836 NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634 		JBrowse link
G Il1a interleukin 1 alpha ISO RGD PMID:9176116 RGD:4142835 NCBI chrNW_004955470:1,527,710...1,538,418
Ensembl chrNW_004955470:1,527,674...1,538,466 		JBrowse link
G Il1b interleukin 1 beta susceptibility
severity		 ISO DNA:polymorphism: :3953T>C (human)
protein:increased expression:lung
protein:increased expression:bronchioalveolar lavage fluid (human)		 RGD PMID:10543265 PMID:10631206 PMID:16634865 RGD:4143179 RGD:4143180 RGD:5147843 NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947 		JBrowse link
G Il1rl1 interleukin 1 receptor like 1 ISO RGD PMID:28128217 RGD:39938965 NCBI chrNW_004955470:7,779,828...7,849,157 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 NCBI chrNW_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471 		JBrowse link
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 chrNW_004955458:3,946,964...3,949,180
Ensembl chrNW_004955458:3,947,803...3,949,312 		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 chrNW_004955493:6,712,005...6,717,417
Ensembl chrNW_004955493:6,712,005...6,717,417 		JBrowse link
G Il27ra interleukin 27 receptor subunit alpha ISO RGD PMID:15749890 RGD:5128486 NCBI chrNW_004955415:32,749,682...32,762,532
Ensembl chrNW_004955415:32,749,094...32,761,882 		JBrowse link
G Il33 interleukin 33 ISO RGD PMID:28128217 RGD:39938965 NCBI chrNW_004955434:10,145,449...10,187,595
Ensembl chrNW_004955434:10,171,812...10,188,948 		JBrowse link
G Il4 interleukin 4 severity ISO RGD PMID:20832364 RGD:5128550 NCBI chrNW_004955408:4,058,052...4,065,999 JBrowse link
G Il4r interleukin 4 receptor ISO protein:decreased expression:serum RGD PMID:21251883 RGD:5128510 NCBI chrNW_004955493:5,546,340...5,580,745
Ensembl chrNW_004955493:5,545,944...5,582,422 		JBrowse link
G Il6 interleukin 6 ISO RGD PMID:20624776 RGD:4143257 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Il6r interleukin 6 receptor ISO protein:decreased expression:T cell RGD PMID:20019339 RGD:5128632 NCBI chrNW_004955545:932,814...979,359
Ensembl chrNW_004955545:950,765...981,762 		JBrowse link
G Irf1 interferon regulatory factor 1 ISO RGD PMID:11083808 RGD:5128719 NCBI chrNW_004955408:3,882,282...3,887,965
Ensembl chrNW_004955408:3,880,155...3,887,973 		JBrowse link
G Itih4 inter-alpha-trypsin inhibitor heavy chain 4 ISO protein:increased expression:urine RGD PMID:29636444 RGD:40903003 NCBI chrNW_004955430:2,772,064...2,787,912
Ensembl chrNW_004955430:2,770,373...2,789,131 		JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO protein:decreased phosphorylation:macrophage, nucleus RGD PMID:19737230 RGD:4889999 NCBI chrNW_004955464:1,107,598...1,110,326 JBrowse link
G LOC102004641 cytochrome b-245 light chain no_association ISO DNA:SNPs:exons:214C>T (rs4673), 521C>T (rs17845095) (human) RGD PMID:16608528 RGD:4780358 NCBI chrNW_004955541:2,570,843...2,573,822
Ensembl chrNW_004955541:2,569,727...2,574,118 		JBrowse link
G LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain ISO RGD PMID:18652916 RGD:5144001 NCBI chrNW_004955437:1,655,092...1,666,552
Ensembl chrNW_004955437:1,635,538...1,669,042 		JBrowse link
G Lta lymphotoxin alpha susceptibility ISO DNA:polymorphism:intron:252G>A (human) RGD PMID:20180006 RGD:4143234 NCBI chrNW_004955437:114,216...116,003
Ensembl chrNW_004955437:114,640...115,529 		JBrowse link
G Marco macrophage receptor with collagenous structure susceptibility ISO DNA:SNP: :rs12998782(human)
DNA:SNPs: :rs2278589, rs6751745,rs6748401 (human)
DNA:SNPs:introns:rs4491733,rs12998782,rs13389814,rs7559955 (human)		 RGD PMID:23617307 PMID:27853145 PMID:28693442 RGD:41412192 RGD:41412194 RGD:41412195 NCBI chrNW_004955459:10,700,645...10,739,222
Ensembl chrNW_004955459:10,698,294...10,739,131 		JBrowse link
G Mbl2 mannose binding lectin 2 ISO DNA:polymorphisms:5' utr, exon:multiple (human) RGD PMID:19199550 RGD:4889452 NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006 		JBrowse link
G Mif macrophage migration inhibitory factor susceptibility ISO DNA:SNP: :rs755622 (human) RGD PMID:20439102 RGD:4891004 NCBI chrNW_004955455:8,367,566...8,368,460
Ensembl chrNW_004955455:8,367,566...8,368,460 		JBrowse link
G Mmp7 matrix metallopeptidase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24890593 NCBI chrNW_004955412:5,780,772...5,792,485
Ensembl chrNW_004955412:5,778,502...5,792,445 		JBrowse link
G Mmp8 matrix metallopeptidase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24890593 NCBI chrNW_004955412:5,928,997...5,939,012
Ensembl chrNW_004955412:5,928,997...5,939,012 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:16982845 RGD:5130746 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288 		JBrowse link
G Nfkbia NFKB inhibitor alpha ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:9379002 RGD:126908014 NCBI chrNW_004955409:25,691,673...25,695,151
Ensembl chrNW_004955409:25,691,534...25,697,520 		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 chrNW_004955433:8,746,213...8,780,119
Ensembl chrNW_004955433:8,746,004...8,782,710 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO DNA:SNPs:multiple (human) RGD PMID:19575238 RGD:4144122 NCBI chrNW_004955481:5,197,957...5,232,406
Ensembl chrNW_004955481:5,201,234...5,231,961 		JBrowse link
G Pdcd1 programmed cell death 1 treatment ISO protein:increased expression:Tcell, B cell, monocyte RGD PMID:23661793 RGD:40818418 NCBI chrNW_004955542:49,290...57,747
Ensembl chrNW_004955542:49,259...58,823 		JBrowse link
G Pdcd1lg2 programmed cell death 1 ligand 2 ISO protein:increased expression:Tcell, B cell, monocyte RGD PMID:23661793 RGD:40818418 NCBI chrNW_004955434:9,540,047...9,559,335 JBrowse link
G Plaur plasminogen activator, urokinase receptor severity ISO RGD PMID:18359089 RGD:6483832 NCBI chrNW_004955555:1,378,505...1,393,395
Ensembl chrNW_004955555:1,378,793...1,393,324 		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 chrNW_004955435:17,082,762...17,139,067 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 chrNW_004955453:14,980,562...14,995,118
Ensembl chrNW_004955453:14,980,562...14,995,608 		JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member ISO associated with HIV Infections; RGD PMID:21843574 RGD:6482248 NCBI chrNW_004955437:1,504,549...1,511,110
Ensembl chrNW_004955437:1,504,947...1,511,097 		JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:polymorphism: : RGD PMID:9062973 RGD:5147851 NCBI chrNW_004955437:1,480,217...1,499,032
Ensembl chrNW_004955437:1,477,341...1,498,575 		JBrowse link
G Tlr1 toll like receptor 1 ISO mRNA:increased expression:blood RGD PMID:16493059 RGD:4889525 NCBI chrNW_004955443:8,442,419...8,450,318
Ensembl chrNW_004955443:8,447,956...8,450,382 		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 chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258 		JBrowse link
G Tlr4 toll like receptor 4 severity
susceptibility		 ISO DNA:polymorphisms:cds: p. D299F, T399I (human)
protein:increased expression:monocyte
DNA:SNP:intron: rs5030729 (human)		 RGD PMID:18008256 PMID:19575238 PMID:20403143 RGD:4144106 RGD:4144122 RGD:4144205 NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135 		JBrowse link
G Tlr9 toll like receptor 9 ISO DNA:snps:multiple (human) RGD PMID:19771452 RGD:5130704 NCBI chrNW_004955532:3,828,645...3,832,699
Ensembl chrNW_004955532:3,828,775...3,832,582 		JBrowse link
G Tnf tumor necrosis factor disease_progression
susceptibility		 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 chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700 		JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNPs (human)
DNA:SNP (human)
DNA:SNPs:promoter, 3' UTR (human)
DNA:SNPs:5' UTR (human)		 RGD PMID:15295697 PMID:17236578 PMID:18231846 PMID:18397302 PMID:20231985 RGD:4889830 RGD:4889842 RGD:4889845 RGD:4889849 RGD:4889853 NCBI chrNW_004955500:6,745,725...6,798,052
Ensembl chrNW_004955500:6,745,678...6,798,048 		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 chrNW_004955493:5,546,340...5,580,745
Ensembl chrNW_004955493:5,545,944...5,582,422 		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 chrNW_004955418:1,091,022...1,097,064
Ensembl chrNW_004955418:1,083,613...1,100,448 		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 chrNW_004955437:1,480,217...1,499,032
Ensembl chrNW_004955437:1,477,341...1,498,575 		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 chrNW_004955437:645,482...648,607
Ensembl chrNW_004955437:645,897...648,479 		JBrowse link
G Btnl2 butyrophilin like 2 no_association
susceptibility		 ISO DNA:SNPs,haplotypes: :
DNA:SNPs,haplotypes: : rs3763313, rs9268494, rs9268492(human)		 RGD PMID:17347014 PMID:20176143 RGD:9685035 RGD:9685036 NCBI chrNW_004955437:1,084,330...1,101,751
Ensembl chrNW_004955437:1,083,745...1,101,730 		JBrowse link
G Cbs cystathionine beta-synthase severity ISO protein:increased expression:macrophages (mouse) RGD PMID:31992699 RGD:40903052 NCBI chrNW_004955407:38,924,355...38,939,790
Ensembl chrNW_004955407:38,924,321...38,939,790 		JBrowse link
G Ccl1 C-C motif chemokine ligand 1 susceptibility ISO DNA:SNP: :rs159294, rs210837, rs10491110 (human) RGD PMID:19057661 RGD:4891408 NCBI chrNW_004955481:9,085,943...9,089,147 JBrowse link
G Cd274 CD274 molecule ISO mRNA, protein:increased expression:blood, neutrophil RGD PMID:21509782 RGD:41412173 NCBI chrNW_004955434:9,487,309...9,508,366
Ensembl chrNW_004955434:9,487,315...9,505,904 		JBrowse link
G Cd86 CD86 molecule ISO protein:increased expression:lung (mouse) RGD PMID:18292558 RGD:4892329 NCBI chrNW_004955427:21,375,820...21,436,767
Ensembl chrNW_004955427:21,375,794...21,435,874 		JBrowse link
G Cd8a CD8 subunit alpha susceptibility ISO mRNA:decreased expression:blood (human)
associated with human immunodeficiency virus infectious disease;mRNA:increased expression:whole blood (human)		 RGD PMID:26725873 PMID:27553407 RGD:124715445 RGD:124715450 NCBI chrNW_004955424:952,595...979,159
Ensembl chrNW_004955424:952,502...978,636 		JBrowse link
G Cebpb CCAAT enhancer binding protein beta ISO mRNA:increased expression:lung, spleen (mouse) RGD PMID:28558034 RGD:40903038 NCBI chrNW_004955445:8,060,432...8,061,289 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 chrNW_004955442:7,600,903...7,647,619
Ensembl chrNW_004955442:7,603,893...7,647,624 		JBrowse link
G Cish cytokine inducible SH2 containing protein susceptibility ISO ClinVar Annotator: match by term: Tuberculosis, susceptibility to OMIM
ClinVar		 PMID:20484391 NCBI chrNW_004955532:2,380,380...2,386,000
Ensembl chrNW_004955532:2,378,088...2,386,000 		JBrowse link
G Coro1a coronin 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16040207 NCBI chrNW_004955493:6,815,148...6,820,295
Ensembl chrNW_004955493:6,811,430...6,826,485 		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 chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643 		JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO protein:increased expression:serum RGD PMID:19281538 RGD:5135308 NCBI chrNW_004955433:724,566...731,945
Ensembl chrNW_004955433:724,515...732,192 		JBrowse link
G Ereg epiregulin susceptibility ISO DNA:SNP:intron: (rs7675690) (human) RGD PMID:22170233 RGD:39457686 NCBI chrNW_004955474:612,440...627,606
Ensembl chrNW_004955474:612,440...627,606 		JBrowse link
G Has1 hyaluronan synthase 1 ISO RGD PMID:19876387 RGD:9588638 NCBI chrNW_004955558:826,853...836,809
Ensembl chrNW_004955558:826,853...836,809 		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 chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045 		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 chrNW_004955436:22,183,318...22,199,013 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 chrNW_004955524:3,276,932...3,299,617 JBrowse link
G Il15 interleukin 15 ISO mRNA:altered expression:lung, spleen RGD PMID:16367949 RGD:4987456 NCBI chrNW_004955471:1,496,352...1,583,919
Ensembl chrNW_004955471:1,497,483...1,511,469 		JBrowse link
G Il22 interleukin 22 ISO RGD PMID:21767990 RGD:5147402 NCBI chrNW_004955458:14,747,339...14,755,602
Ensembl chrNW_004955458:14,747,084...14,752,553 		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 chrNW_004955493:6,712,005...6,717,417
Ensembl chrNW_004955493:6,712,005...6,717,417 		JBrowse link
G Il33 interleukin 33 ISO associated with Pleural Effusion;protein:increased expression:pleural biopsy RGD PMID:25755791 RGD:40400701 NCBI chrNW_004955434:10,145,449...10,187,595
Ensembl chrNW_004955434:10,171,812...10,188,948 		JBrowse link
G Irak3 interleukin 1 receptor associated kinase 3 ISO mRNA, protein:increased expression:sputum (human) RGD PMID:19535630 RGD:36049800 NCBI chrNW_004955458:12,839,995...12,880,285
Ensembl chrNW_004955458:12,846,237...12,879,316 		JBrowse link
G Irgm immunity related GTPase M ISO OMIM NCBI chrNW_004955408:2,338,510...2,344,566 JBrowse link
G Mapkapk3 MAPK activated protein kinase 3 ISO ClinVar Annotator: match by term: Tuberculosis, susceptibility to ClinVar PMID:20484391 NCBI chrNW_004955532:2,392,539...2,419,219
Ensembl chrNW_004955532:2,392,539...2,420,604 		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 chrNW_004955403:19,510,122...19,536,428
Ensembl chrNW_004955403:19,532,103...19,535,944 		JBrowse link
G Nrg1 neuregulin 1 susceptibility ISO DNA:SNP, haplotype: (rs16879814) RGD PMID:25919455 RGD:39456091 NCBI chrNW_004955463:8,009,436...9,037,116
Ensembl chrNW_004955463:8,009,530...9,037,116 		JBrowse link
G Pdcd1 programmed cell death 1 treatment ISO RGD PMID:27865385 RGD:41412174 NCBI chrNW_004955542:49,290...57,747
Ensembl chrNW_004955542:49,259...58,823 		JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO RGD PMID:30514491 RGD:38599199 NCBI chrNW_004955410:11,402,476...11,433,335
Ensembl chrNW_004955410:11,402,520...11,437,422 		JBrowse link
G Ripk3 receptor interacting serine/threonine kinase 3 exacerbates ISO RGD PMID:29892302 RGD:127229926 NCBI chrNW_004955409:35,961,604...35,965,477
Ensembl chrNW_004955409:35,937,880...35,965,712 		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 chrNW_004955453:14,980,562...14,995,118
Ensembl chrNW_004955453:14,980,562...14,995,608 		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 chrNW_004955453:4,915,541...4,939,438 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 chrNW_004955453:4,864,812...4,911,699 JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:15863395 RGD:1581371 NCBI chrNW_004955474:1,914,477...1,922,025
Ensembl chrNW_004955474:1,913,829...1,922,016 		JBrowse link
G Sting1 stimulator of interferon response cGAMP interactor 1 ISO RGD PMID:29791904 RGD:39128196 NCBI chrNW_004955418:1,091,022...1,097,064
Ensembl chrNW_004955418:1,083,613...1,100,448 		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 chrNW_004955412:27,303,548...27,315,031
Ensembl chrNW_004955412:27,312,489...27,315,031 		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 chrNW_004955443:8,442,419...8,450,318
Ensembl chrNW_004955443:8,447,956...8,450,382 		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 chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258 		JBrowse link
G Tlr4 toll like receptor 4 ISO RGD PMID:12218133 RGD:4144821 NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135 		JBrowse link
G Tlr6 toll like receptor 6 susceptibility ISO DNA:missense mutations:cds:multiple (human) RGD PMID:18091991 RGD:7246918 NCBI chrNW_004955443:8,401,461...8,427,175
Ensembl chrNW_004955443:8,422,534...8,424,942 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum RGD PMID:20537163 RGD:4143229 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700 		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 chrNW_004955486:1,790,531...1,817,986
Ensembl chrNW_004955486:1,792,115...1,818,362 		JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30202016 NCBI chrNW_004955419:12,763,343...12,790,044
Ensembl chrNW_004955419:12,762,748...12,788,117 		JBrowse link
G Vdr vitamin D receptor susceptibility ISO associated with HIV Infections;DNA:SNPs:3' UTR (human) RGD PMID:18712587 RGD:4889839 NCBI chrNW_004955500:6,745,725...6,798,052
Ensembl chrNW_004955500:6,745,678...6,798,048 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14274
    disease by infectious agent 1956
      Bacterial Infections and Mycoses 968
        bacterial infectious disease 733
          Gram-Positive Bacterial Infections 350
            Actinomycetales Infections 285
              Mycobacterium Infections 284
                Immunodeficiency 86 1
                Immunodeficiency 88 1
                Nontuberculous Mycobacterium Infections + 149
                Paratuberculosis 5
                immunodeficiency 31B 19
                leprosy + 32
                tuberculosis + 103
paths to the root