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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

GViewer not supported for the selected species.

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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_004936810:791,823...838,303
Ensembl chrNW_004936810:758,182...838,365 		JBrowse link
G Ifng interferon gamma ISO associated with Diabetes Mellitus, Insulin-Dependent;mRNA:increased expression:lung RGD PMID:19060451 RGD:2311490 NCBI chrNW_004936545:6,139,130...6,144,543
Ensembl chrNW_004936545:6,139,116...6,148,452 		JBrowse link
G Ifngr1 interferon gamma receptor 1 ISO DNA: missense mutations: cds: I87T; V63G
DNA: mutation		 RGD PMID:15589309 PMID:21266457 RGD:6480268 RGD:6480429 NCBI chrNW_004936560:4,519,858...4,545,763
Ensembl chrNW_004936560:4,519,474...4,545,796 		JBrowse link
G Il22 interleukin 22 ISO RGD PMID:19864591 RGD:5147407 NCBI chrNW_004936545:6,227,118...6,231,745
Ensembl chrNW_004936545:6,227,118...6,231,745 		JBrowse link
G LOC101968921 angiotensin-converting enzyme ISO associated with pulmonary sarcoidosis;protein:increased expression:blood serum (human) RGD PMID:15881283 RGD:40818305 NCBI chrNW_004936541:4,157,847...4,178,156
Ensembl chrNW_004936541:4,157,393...4,178,177 		JBrowse link
G Ripk3 receptor interacting serine/threonine kinase 3 ameliorates ISO RGD PMID:28401933 RGD:127229921 NCBI chrNW_004936722:209,019...212,817
Ensembl chrNW_004936722:209,013...212,839 		JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO DNA:point mutation (mouse) RGD PMID:11821237 RGD:5684969 NCBI chrNW_004936569:888,309...895,991
Ensembl chrNW_004936569:887,742...895,977 		JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11452125 NCBI chrNW_004936506:7,196,860...7,235,854
Ensembl chrNW_004936506:7,196,797...7,233,756 		JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: therapeutic CTD PMID:15316035 NCBI chrNW_004936474:814,510...889,851 JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:15316035 PMID:18941223 NCBI chrNW_004936487:4,057,637...4,081,207
Ensembl chrNW_004936487:4,057,643...4,081,207 		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_004936646:743,630...745,998
Ensembl chrNW_004936646:743,688...745,836 		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_004936569:888,309...895,991
Ensembl chrNW_004936569:887,742...895,977 		JBrowse link
extrapulmonary tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ereg epiregulin susceptibility ISO DNA:SNP:exon 4: (rs2367707) (human) RGD PMID:30634928 RGD:39457687 NCBI chrNW_004936598:1,328,803...1,336,141
Ensembl chrNW_004936598:1,328,803...1,344,360 		JBrowse link
G LOC101964975 interleukin-8 ISO protein:increased expression:serum (human) RGD PMID:16001981 RGD:39939055 NCBI chrNW_004936598:1,779,471...1,781,353
Ensembl chrNW_004936598:1,779,471...1,781,353 		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_004936647:2,686,247...2,693,633
Ensembl chrNW_004936647:2,686,414...2,693,636 		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_004936560:3,681,145...3,711,831
Ensembl chrNW_004936560:3,680,657...3,712,004 		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_004936823:580,438...621,298
Ensembl chrNW_004936823:581,955...621,208 		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_004936560:4,519,858...4,545,763
Ensembl chrNW_004936560:4,519,474...4,545,796 		JBrowse link
G Ifngr2 interferon gamma receptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chrNW_004936500:8,881,921...8,937,355
Ensembl chrNW_004936500:8,882,435...8,901,281 		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_004936596:3,062,620...3,076,349 JBrowse link
G Il20ra interleukin 20 receptor subunit alpha ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chrNW_004936560:4,384,126...4,397,971
Ensembl chrNW_004936560:4,384,512...4,420,567 		JBrowse link
G Il22ra2 interleukin 22 receptor subunit alpha 2 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chrNW_004936560:4,493,279...4,506,973
Ensembl chrNW_004936560:4,493,279...4,506,973 		JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chrNW_004936560:3,988,696...4,197,953
Ensembl chrNW_004936560:3,989,420...4,197,501 		JBrowse link
G Map7 microtubule associated protein 7 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chrNW_004936560:3,811,021...3,958,007
Ensembl chrNW_004936560:3,816,209...3,872,488 		JBrowse link
G Mtfr2 mitochondrial fission regulator 2 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chrNW_004936560:3,656,639...3,670,923
Ensembl chrNW_004936560:3,660,705...3,671,917 		JBrowse link
G Pde7b phosphodiesterase 7B ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chrNW_004936560:3,323,264...3,633,083
Ensembl chrNW_004936560:3,323,230...3,633,251 		JBrowse link
G Pex7 peroxisomal biogenesis factor 7 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chrNW_004936560:4,237,691...4,302,655
Ensembl chrNW_004936560:4,237,642...4,303,286 		JBrowse link
G Slc35d3 solute carrier family 35 member D3 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chrNW_004936560:4,309,136...4,313,259
Ensembl chrNW_004936560:4,308,928...4,313,347 		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_004936506:8,226,068...8,299,455
Ensembl chrNW_004936506:8,226,498...8,299,419 		JBrowse link
G Asnsd1 asparagine synthetase domain containing 1 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chrNW_004936506:8,886,494...8,923,921
Ensembl chrNW_004936506:8,886,494...8,923,930 		JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chrNW_004936506:8,739,475...8,873,073
Ensembl chrNW_004936506:8,822,517...8,870,836 		JBrowse link
G CUNH2orf88 chromosome unknown C2orf88 homolog ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chrNW_004936506:7,883,823...7,903,949 JBrowse link
G Gls glutaminase ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chrNW_004936506:7,237,099...7,314,011
Ensembl chrNW_004936506:7,237,099...7,313,976 		JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chrNW_004936506:7,811,624...7,882,861
Ensembl chrNW_004936506:7,811,600...7,882,642 		JBrowse link
G Inpp1 inositol polyphosphate-1-phosphatase ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chrNW_004936506:7,767,126...7,793,111
Ensembl chrNW_004936506:7,766,068...7,793,210 		JBrowse link
G Mfsd6 major facilitator superfamily domain containing 6 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chrNW_004936506:7,673,640...7,720,214
Ensembl chrNW_004936506:7,670,630...7,717,157 		JBrowse link
G Mstn myostatin ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chrNW_004936506:7,988,879...7,996,260
Ensembl chrNW_004936506:7,988,718...7,996,971 		JBrowse link
G Nab1 NGFI-A binding protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chrNW_004936506:7,503,544...7,548,981
Ensembl chrNW_004936506:7,502,608...7,548,981 		JBrowse link
G Nemp2 nuclear envelope integral membrane protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chrNW_004936506:7,647,575...7,670,215
Ensembl chrNW_004936506:7,656,225...7,670,225 		JBrowse link
G Ormdl1 ORMDL sphingolipid biosynthesis regulator 1 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chrNW_004936506:8,197,116...8,208,712
Ensembl chrNW_004936506:8,196,784...8,210,584 		JBrowse link
G Osgepl1 O-sialoglycoprotein endopeptidase like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chrNW_004936506:8,218,254...8,241,631
Ensembl chrNW_004936506:8,218,254...8,243,032 		JBrowse link
G Pms1 PMS1 homolog 1, mismatch repair system component ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chrNW_004936506:8,118,816...8,197,040
Ensembl chrNW_004936506:8,119,494...8,197,768 		JBrowse link
G Slc40a1 solute carrier family 40 member 1 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chrNW_004936506:8,396,593...8,415,069
Ensembl chrNW_004936506:8,396,912...8,416,374 		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_004936506:7,196,860...7,235,854
Ensembl chrNW_004936506:7,196,797...7,233,756 		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_004936506:7,091,982...7,185,938
Ensembl chrNW_004936506:7,095,009...7,184,689 		JBrowse link
G Wdr75 WD repeat domain 75 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chrNW_004936506:8,502,795...8,529,305
Ensembl chrNW_004936506:8,500,752...8,529,698 		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_004936809:615,133...634,618
Ensembl chrNW_004936809:615,139...635,990 		JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:791,275...807,448
Ensembl chrNW_004936809:791,274...807,450 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:396,883...466,372
Ensembl chrNW_004936809:396,733...466,524 		JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:1,179,507...1,188,172
Ensembl chrNW_004936809:1,179,464...1,188,283 		JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:789,337...790,986
Ensembl chrNW_004936809:788,286...790,954 		JBrowse link
G Bcap31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:582,689...614,800
Ensembl chrNW_004936809:582,649...615,079 		JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:375,589...389,718
Ensembl chrNW_004936809:375,543...389,756 		JBrowse link
G Brcc3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936927:341,114...380,817
Ensembl chrNW_004936927:341,253...376,700 		JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:471,619...482,296
Ensembl chrNW_004936809:472,061...482,192 		JBrowse link
G Clic2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936927:514,989...543,691
Ensembl chrNW_004936927:514,899...543,693 		JBrowse link
G Cmc4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936927:317,417...341,016
Ensembl chrNW_004936927:320,833...341,021 		JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936927:134,770...144,057 JBrowse link
G Dnase1l1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:1,151,312...1,159,017
Ensembl chrNW_004936809:1,151,202...1,159,029 		JBrowse link
G Dusp9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:535,434...538,219
Ensembl chrNW_004936809:535,434...539,319 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:1,127,701...1,130,195
Ensembl chrNW_004936809:1,127,710...1,130,195 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936927:189,359...301,791
Ensembl chrNW_004936927:190,111...301,609 		JBrowse link
G F8a1 coagulation factor VIII associated 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936927:234,162...236,881 JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:1,248,865...1,258,894
Ensembl chrNW_004936809:1,249,823...1,258,860 		JBrowse link
G Fam50a family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:1,195,479...1,202,126 JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:1,097,288...1,123,206
Ensembl chrNW_004936809:1,097,294...1,123,201 		JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936927:304,162...318,271
Ensembl chrNW_004936927:304,197...318,271 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:1,269,900...1,285,853
Ensembl chrNW_004936809:1,269,914...1,285,889 		JBrowse link
G Gab3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936927:68,506...93,899
Ensembl chrNW_004936927:70,923...124,164 		JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:1,188,793...1,194,816
Ensembl chrNW_004936809:1,188,628...1,194,863 		JBrowse link
G Haus7 HAUS augmin like complex subunit 7 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:321,906...350,105
Ensembl chrNW_004936809:321,497...350,110 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:827,008...853,689
Ensembl chrNW_004936809:827,031...853,644 		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_004936809:666,231...675,279
Ensembl chrNW_004936809:666,337...675,214 		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_004936809:1,280,254...1,306,964
Ensembl chrNW_004936809:1,257,654...1,301,813 		JBrowse link
G Il9r interleukin 9 receptor ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936501:829,236...840,130
Ensembl chrNW_004936501:829,236...840,048 		JBrowse link
G Irak1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:891,407...900,311
Ensembl chrNW_004936809:890,717...900,326 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:736,385...768,822
Ensembl chrNW_004936809:736,319...761,973 		JBrowse link
G Lage3 L antigen family member 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:1,229,933...1,232,448 JBrowse link
G LOC101967165 histone H2A-Bbd type 2/3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936927:232,353...232,857 JBrowse link
G Mecp2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:902,938...967,771
Ensembl chrNW_004936809:911,764...966,839 		JBrowse link
G Mpp1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936927:147,448...170,435
Ensembl chrNW_004936927:147,282...170,575 		JBrowse link
G Mtcp1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936927:334,017...341,016
Ensembl chrNW_004936927:334,894...341,072 		JBrowse link
G Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:812,454...817,226
Ensembl chrNW_004936809:812,390...817,288 		JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:681,412...707,932
Ensembl chrNW_004936809:679,938...707,938 		JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:1,209,787...1,226,726
Ensembl chrNW_004936809:1,209,743...1,226,728 		JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:645,569...659,850
Ensembl chrNW_004936809:644,049...659,859 		JBrowse link
G Pnck pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:553,438...557,385
Ensembl chrNW_004936809:553,431...557,427 		JBrowse link
G Rab39b RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936927:492,114...498,030
Ensembl chrNW_004936927:492,099...498,294 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:817,392...823,926
Ensembl chrNW_004936809:817,355...823,941 		JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:1,146,994...1,149,573
Ensembl chrNW_004936809:1,146,809...1,149,618 		JBrowse link
G Slc10a3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:1,241,980...1,245,986
Ensembl chrNW_004936809:1,241,986...1,246,266 		JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:571,234...578,298 JBrowse link
G Smim9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936927:171,867...186,718 JBrowse link
G Spry3 sprouty RTK signaling antagonist 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936958:225,179...232,843
Ensembl chrNW_004936958:225,179...232,564 		JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:661,264...666,198
Ensembl chrNW_004936809:661,264...666,188 		JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:675,178...679,245
Ensembl chrNW_004936809:675,049...679,707 		JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:1,160,265...1,168,956
Ensembl chrNW_004936809:1,160,247...1,171,097 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:1,022,795...1,042,475
Ensembl chrNW_004936809:1,022,795...1,040,120 		JBrowse link
G Tktl1 transketolase like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:1,048,672...1,084,125
Ensembl chrNW_004936809:1,048,672...1,083,994 		JBrowse link
G Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936958:64,713...113,627 JBrowse link
G Trex2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:317,655...319,293
Ensembl chrNW_004936809:318,548...319,258 		JBrowse link
G Ubl4a ubiquitin like 4A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:1,238,459...1,241,319
Ensembl chrNW_004936809:1,238,462...1,241,318 		JBrowse link
G Vamp7 vesicle associated membrane protein 7 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936958:345,055...393,384 JBrowse link
G Vbp1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936927:433,598...468,191
Ensembl chrNW_004936927:433,551...469,331 		JBrowse link
immunodeficiency 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101966992 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_004936502:4,631,750...4,676,686
Ensembl chrNW_004936502:4,635,149...4,676,904 		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_004936737:1,836,851...1,850,279
Ensembl chrNW_004936737:1,836,897...1,848,989 		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_004936737:765,125...766,432
Ensembl chrNW_004936737:765,125...766,432 		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_004936737:2,010,647...2,041,401
Ensembl chrNW_004936737:2,011,724...2,039,796 		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_004936737:1,751,065...1,753,843 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_004936737:369,872...383,671
Ensembl chrNW_004936737:369,852...383,719 		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_004936737:1,776,550...1,778,233
Ensembl chrNW_004936737:1,776,480...1,779,611 		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_004936737:1,887,250...1,889,055
Ensembl chrNW_004936737:1,887,855...1,888,826 		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_004936737:1,877,428...1,881,345
Ensembl chrNW_004936737:1,877,191...1,881,360 		JBrowse link
G Calml6 calmodulin like 6 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,468,172...1,470,326
Ensembl chrNW_004936737:1,468,269...1,469,445 		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_004936737:144,398...157,262 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_004936737:1,765,027...1,773,156
Ensembl chrNW_004936737:1,764,189...1,772,475 		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_004936737:98,346...127,932
Ensembl chrNW_004936737:98,365...129,671 		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_004936737:1,416,475...1,465,984 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_004936737:1,816,461...1,820,353
Ensembl chrNW_004936737:1,816,475...1,820,320 		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_004936737:1,975,031...1,991,058 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_004936737:1,797,348...1,811,043
Ensembl chrNW_004936737:1,797,326...1,810,286 		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_004936737:1,296,152...1,300,038 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_004936737:1,658,932...1,668,081 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_004936737:1,400,437...1,405,885
Ensembl chrNW_004936737:1,400,395...1,406,119 		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_004936737:1,518,855...1,554,926
Ensembl chrNW_004936737:1,524,325...1,555,102 		JBrowse link
G Hes4 hes family bHLH transcription factor 4 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:2,054,879...2,056,126 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_004936737:1,045,496...1,047,865
Ensembl chrNW_004936737:1,046,613...1,047,950 		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_004936737:1,820,472...1,833,301
Ensembl chrNW_004936737:1,822,826...1,833,104 		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_004936737:2,043,383...2,044,761 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_004936737:2,080,699...2,086,252
Ensembl chrNW_004936737:2,079,582...2,086,152 		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_004936737:129,781...139,139
Ensembl chrNW_004936737:129,724...139,468 		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_004936737:269,629...364,809 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_004936737:1,633,495...1,646,598 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_004936737:970,504...997,452
Ensembl chrNW_004936737:970,504...997,067 		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_004936737:1,628,915...1,632,023
Ensembl chrNW_004936737:1,629,639...1,632,023 		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_004936737:1,166,183...1,214,517 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_004936737:1,760,236...1,761,776 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_004936737:1,790,653...1,794,749
Ensembl chrNW_004936737:1,790,587...1,794,796 		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_004936737:1,568,304...1,579,929 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_004936737:2,087,123...2,098,153
Ensembl chrNW_004936737:2,087,158...2,098,156 		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_004936737:1,049,467...1,064,548
Ensembl chrNW_004936737:1,048,597...1,065,364 		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_004936737:1,144,753...1,152,720
Ensembl chrNW_004936737:1,144,700...1,152,718 		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_004936737:1,066,860...1,131,627
Ensembl chrNW_004936737:1,066,825...1,133,216 		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_004936737:2,072,857...2,079,855 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_004936737:400,819...446,768
Ensembl chrNW_004936737:404,846...446,985 		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_004936737:1,303,502...1,383,135
Ensembl chrNW_004936737:1,303,887...1,321,944 		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_004936737:998,313...1,000,757
Ensembl chrNW_004936737:998,186...1,000,764 		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_004936737:1,833,298...1,836,101
Ensembl chrNW_004936737:1,833,798...1,836,696 		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_004936737:1,152,937...1,164,817
Ensembl chrNW_004936737:1,152,937...1,164,616 		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_004936737:1,992,117...1,997,810 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_004936737:1,851,185...1,854,923 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_004936737:1,889,123...1,898,303
Ensembl chrNW_004936737:1,891,415...1,898,904 		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_004936737:1,223,653...1,274,664
Ensembl chrNW_004936737:1,222,341...1,276,631 		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_004936737:141,024...141,851
Ensembl chrNW_004936737:140,702...143,791 		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_004936737:1,678,425...1,705,569
Ensembl chrNW_004936737:1,678,425...1,705,609 		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_004936737:1,811,123...1,814,982
Ensembl chrNW_004936737:1,811,815...1,814,982 		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_004936737:1,710,311...1,711,882 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_004936737:1,466,168...1,468,003 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_004936737:1,746,208...1,746,947 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_004936737:1,008,228...1,013,575 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_004936737:1,905,307...1,910,356 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_004936737:1,901,749...1,904,382 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_004936737:171,894...211,464
Ensembl chrNW_004936737:172,467...211,464 		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_004936737:253,752...258,767 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...
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_004936737:1,910,286...1,926,061 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_004936737:1,862,577...1,875,216
Ensembl chrNW_004936737:1,862,578...1,875,248 		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_004936737:1,733,837...1,738,861
Ensembl chrNW_004936737:1,733,854...1,738,792 		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_004936737:238,615...253,495
Ensembl chrNW_004936737:238,573...255,356 		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_004936545:6,139,130...6,144,543
Ensembl chrNW_004936545:6,139,116...6,148,452 		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_004936471:12,700,777...12,730,509
Ensembl chrNW_004936471:12,701,014...12,729,995 		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_004936490:13,546,405...13,558,635
Ensembl chrNW_004936490:13,546,292...13,558,635 		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_004936763:1,225,355...1,308,257
Ensembl chrNW_004936763:1,226,482...1,297,427 		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_004936481:18,866,637...18,880,391
Ensembl chrNW_004936481:18,853,301...18,880,391 		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_004936482:17,162,854...17,238,319
Ensembl chrNW_004936482:17,162,950...17,238,274 		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_004936588:3,985,732...4,023,221 JBrowse link
G Cfb complement factor B severity ISO RGD PMID:6342123 RGD:7411735 NCBI chrNW_004936727:1,595,872...1,602,274
Ensembl chrNW_004936727:1,595,499...1,602,215 		JBrowse link
G Il27 interleukin 27 ameliorates ISO mRNA:decreased expression:skin of body (human) RGD PMID:26030183 RGD:126790539 NCBI chrNW_004936501:11,972,715...11,978,152
Ensembl chrNW_004936501:11,973,385...11,976,583 		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_004936557:837,023...850,316
Ensembl chrNW_004936557:837,001...850,320 		JBrowse link
G Ccdc88b coiled-coil domain containing 88B ISO CTD Direct Evidence: marker/mechanism CTD PMID:25642632 NCBI chrNW_004936599:4,867,993...4,881,662
Ensembl chrNW_004936599:4,867,955...4,879,929 		JBrowse link
G Cd8a CD8 subunit alpha exacerbates ISO mRNA:increased expression:blood (human) RGD PMID:31784594 RGD:124715449 NCBI chrNW_004936712:885,301...891,247
Ensembl chrNW_004936712:885,458...890,852 		JBrowse link
G Il10 interleukin 10 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:28492532 NCBI chrNW_004936557:5,834,874...5,838,502
Ensembl chrNW_004936557:5,834,874...5,838,502 		JBrowse link
G Il17a interleukin 17A severity ISO mRNA:decreased expression:epidermis (human) RGD PMID:22641009 RGD:8698644 NCBI chrNW_004936476:8,621,860...8,625,008
Ensembl chrNW_004936476:8,621,860...8,625,008 		JBrowse link
G Il19 interleukin 19 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:28492532 NCBI chrNW_004936557:5,765,093...5,769,853
Ensembl chrNW_004936557:5,765,093...5,769,853 		JBrowse link
G Il23r interleukin 23 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22019778 NCBI chrNW_004936591:4,365,598...4,425,053
Ensembl chrNW_004936591:4,365,762...4,425,005 		JBrowse link
G LOC101963096 coiled-coil domain-containing protein 122 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:25741868 NCBI chrNW_004936747:106,703...145,491 JBrowse link
G LOC101964975 interleukin-8 severity ISO DNA:SNP:promoter:g.-353T>A (rs4073) (human) RGD PMID:30303246 RGD:40400755 NCBI chrNW_004936598:1,779,471...1,781,353
Ensembl chrNW_004936598:1,779,471...1,781,353 		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_004936607:628,469...761,117
Ensembl chrNW_004936607:626,991...761,123 		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_004936727:1,940,081...1,941,022
Ensembl chrNW_004936727:1,940,081...1,941,022 		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_004936520:9,463,007...9,547,321
Ensembl chrNW_004936520:9,463,007...9,547,257 		JBrowse link
G Nod2 nucleotide binding oligomerization domain containing 2 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chrNW_004936475:3,708,069...3,742,845
Ensembl chrNW_004936475:3,713,362...3,745,982 		JBrowse link
G Parl presenilin associated rhomboid like ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chrNW_004936578:5,945,765...5,992,972
Ensembl chrNW_004936578:5,945,635...5,993,143 		JBrowse link
G Pink1 PTEN induced kinase 1 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chrNW_004936474:6,574,471...6,589,478
Ensembl chrNW_004936474:6,573,623...6,589,478 		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_004936489:12,118,538...12,913,664
Ensembl chrNW_004936489:12,120,678...13,327,872 		JBrowse link
G Rab32 RAB32, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:22019778 NCBI chrNW_004936489:35,620...51,809 JBrowse link
G Ripk2 receptor interacting serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chrNW_004936544:3,606,925...3,653,248
Ensembl chrNW_004936544:3,606,879...3,655,532 		JBrowse link
G Slc11a1 solute carrier family 11 member 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:repeat:promoter (human)
DNA:polymorphisms, haplotype (human)		 CTD
RGD		 PMID:10608779 PMID:15755200 PMID:16597321 RGD:5684957 RGD:5684972 NCBI chrNW_004936569:888,309...895,991
Ensembl chrNW_004936569:887,742...895,977 		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_004936482:6,582,430...6,591,128
Ensembl chrNW_004936482:6,582,584...6,584,971 		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_004936576:522,234...531,660
Ensembl chrNW_004936576:527,434...529,788 		JBrowse link
G Tlr6 toll like receptor 6 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chrNW_004936482:6,607,723...6,610,161
Ensembl chrNW_004936482:6,607,753...6,610,143 		JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:SNP:promoter:−308G>A (human) RGD PMID:20650301 RGD:8694069 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766 		JBrowse link
G Tnfsf15 TNF superfamily member 15 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chrNW_004936487:3,959,224...3,975,959
Ensembl chrNW_004936487:3,959,224...3,975,959 		JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25320285 NCBI chrNW_004936487:4,057,637...4,081,207
Ensembl chrNW_004936487:4,057,643...4,081,207 		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_004936501:11,025,590...11,058,807
Ensembl chrNW_004936501:11,025,567...11,058,818 		JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:10318940 RGD:10449456 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766 		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_004936619:762,278...791,610 JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO DNA:insertion/deletion:3' utr (human) RGD PMID:11791966 RGD:5684970 NCBI chrNW_004936569:888,309...895,991
Ensembl chrNW_004936569:887,742...895,977 		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_004936721:1,118,376...1,125,282
Ensembl chrNW_004936721:1,118,782...1,132,308 		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_004936578:3,168,599...3,179,369
Ensembl chrNW_004936578:3,168,331...3,171,928 		JBrowse link
G Il17a interleukin 17A ISO RGD PMID:20797909 RGD:4888520 NCBI chrNW_004936476:8,621,860...8,625,008
Ensembl chrNW_004936476:8,621,860...8,625,008 		JBrowse link
G LOC101964975 interleukin-8 ISO protein:increased expression:blood plasma, erythrocyte (human) RGD PMID:26300588 RGD:11250849 NCBI chrNW_004936598:1,779,471...1,781,353
Ensembl chrNW_004936598:1,779,471...1,781,353 		JBrowse link
G Tnf tumor necrosis factor ISO associated with HIV Infections RGD PMID:7640175 RGD:10450731 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766 		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_004936589:1,565,933...1,719,208 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_004936560:4,519,858...4,545,763
Ensembl chrNW_004936560:4,519,474...4,545,796 		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_004936515:4,056,214...4,066,121
Ensembl chrNW_004936515:4,056,214...4,065,076 		JBrowse link
G Il18 interleukin 18 ISO RGD PMID:21045270 RGD:4889546 NCBI chrNW_004936612:2,306,963...2,325,086
Ensembl chrNW_004936612:2,306,875...2,325,189 		JBrowse link
G Il1r1 interleukin 1 receptor type 1 ISO RGD PMID:16797208 RGD:5037237 NCBI chrNW_004936713:808,761...881,070
Ensembl chrNW_004936713:808,659...881,076 		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_004936560:4,384,126...4,397,971
Ensembl chrNW_004936560:4,384,512...4,420,567 		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_004936560:4,493,279...4,506,973
Ensembl chrNW_004936560:4,493,279...4,506,973 		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_004936560:4,793,595...4,795,781
Ensembl chrNW_004936560:4,794,747...4,795,565 		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_004936560:4,237,691...4,302,655
Ensembl chrNW_004936560:4,237,642...4,303,286 		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_004936560:4,309,136...4,313,259
Ensembl chrNW_004936560:4,308,928...4,313,347 		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_004936506:7,196,860...7,235,854
Ensembl chrNW_004936506:7,196,797...7,233,756 		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_004936560:5,124,955...5,138,988
Ensembl chrNW_004936560:5,128,843...5,138,345 		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_004936557:5,834,874...5,838,502
Ensembl chrNW_004936557:5,834,874...5,838,502 		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_004936709:709,001...719,758
Ensembl chrNW_004936709:708,968...720,478 		JBrowse link
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chrNW_004936588:3,985,732...4,023,221 JBrowse link
G F2 coagulation factor II, thrombin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chrNW_004936562:2,371,725...2,388,617
Ensembl chrNW_004936562:2,372,044...2,388,650 		JBrowse link
G Gsn gelsolin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chrNW_004936487:9,749,755...9,802,787
Ensembl chrNW_004936487:9,764,944...9,802,841 		JBrowse link
G LOC101970831 serotransferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chrNW_004936529:6,917,762...6,947,512
Ensembl chrNW_004936529:6,855,958...6,947,394 		JBrowse link
G LOC101973421 amine oxidase copper containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chrNW_004936490:17,549,836...17,564,867 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_004936619:762,278...791,610 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:serum:
protein:increased activity:pleural fluid:
protein:increased expression:serum:		 RGD PMID:1689629 PMID:1818842 PMID:18357489 PMID:21860532 RGD:152995280 RGD:152995288 RGD:152995292 RGD:152998934 NCBI chrNW_004936530:2,217,713...2,224,070 JBrowse link
G Ada2 adenosine deaminase 2 treatment ISO RGD PMID:8656037 RGD:152995258 NCBI chrNW_004936807:232,851...262,593 JBrowse link
G Ccl22 C-C motif chemokine ligand 22 ISO RGD PMID:20337996 RGD:4891473 NCBI chrNW_004936475:9,432,505...9,436,240
Ensembl chrNW_004936475:9,432,505...9,436,240 		JBrowse link
G Foxp3 forkhead box P3 disease_progression ISO associated with human immunodeficiency virus infectious disease; RGD PMID:21303360 RGD:36947878 NCBI chrNW_004936721:1,118,376...1,125,282
Ensembl chrNW_004936721:1,118,782...1,132,308 		JBrowse link
G Il1b interleukin 1 beta ISO DNA:polymorphism: :3953T>C (human) RGD PMID:10377182 RGD:4143226 NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO DNA:repeat (human) RGD PMID:10377182 RGD:4143226 NCBI chrNW_004936783:1,447,158...1,466,331
Ensembl chrNW_004936783:1,447,106...1,466,340 		JBrowse link
G Il27 interleukin 27 exacerbates ISO associated with Pleural Effusion;protein:increased expression:pleural fluid (human)
protein:increased expression:alveolar system (human)		 RGD PMID:23962500 PMID:25753767 PMID:28844060 PMID:31819557 RGD:126790505 RGD:126790517 RGD:126790523 RGD:126790549 NCBI chrNW_004936501:11,972,715...11,978,152
Ensembl chrNW_004936501:11,973,385...11,976,583 		JBrowse link
G Il33 interleukin 33 ISO protein:increased expression:pleural fluid: RGD PMID:23301222 RGD:39939042 NCBI chrNW_004936539:763,755...791,461
Ensembl chrNW_004936539:623,248...791,470 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:pleura: RGD PMID:18715875 RGD:5129700 NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793 		JBrowse link
G Tlr4 toll like receptor 4 ISO RGD PMID:18295348 RGD:4144193 NCBI chrNW_004936487:6,519,140...6,532,018
Ensembl chrNW_004936487:6,518,441...6,533,095 		JBrowse link
G Tnc tenascin C ISO protein:increased expression:pleura RGD PMID:10950882 RGD:4889594 NCBI chrNW_004936487:4,172,263...4,256,780
Ensembl chrNW_004936487:4,172,886...4,233,126 		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_004936763:1,225,355...1,308,257
Ensembl chrNW_004936763:1,226,482...1,297,427 		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_004936530:2,217,713...2,224,070 JBrowse link
G Ada2 adenosine deaminase 2 ISO protein:increased activity:sputum: RGD PMID:19460251 RGD:152995271 NCBI chrNW_004936807:232,851...262,593 JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:plasma RGD PMID:22022605 RGD:5686405 NCBI chrNW_004936578:3,168,599...3,179,369
Ensembl chrNW_004936578:3,168,331...3,171,928 		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_004936621:620,163...639,115
Ensembl chrNW_004936621:620,074...639,093 		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_004936554:7,807,914...7,848,691
Ensembl chrNW_004936554:7,808,355...7,867,931 		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_004936470:18,340,120...18,640,396
Ensembl chrNW_004936470:18,339,616...18,640,624 		JBrowse link
G Atf3 activating transcription factor 3 ISO mRNA,protein:increased expression:lung RGD PMID:20856677 RGD:34888225 NCBI chrNW_004936557:909,302...922,619
Ensembl chrNW_004936557:908,318...922,624 		JBrowse link
G C3 complement C3 ISO RGD PMID:19472039 RGD:5129500 NCBI chrNW_004936588:3,985,732...4,023,221 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_004936538:781,687...784,199
Ensembl chrNW_004936538:781,687...784,199 		JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO mRNA:increased expression:lung RGD PMID:19933855 RGD:5130906 NCBI chrNW_004936524:2,765,271...2,767,259
Ensembl chrNW_004936524:2,765,267...2,767,385 		JBrowse link
G Ccl5 C-C motif chemokine ligand 5 susceptibility ISO mRNA:increased expression:lung (human)
DNA:snps:5' utr:g.-403G>A rs2280788, g.-28C>G rs2107538 (human)		 RGD PMID:15128813 PMID:19335954 RGD:4891879 RGD:4892112 NCBI chrNW_004936490:253,279...259,947
Ensembl chrNW_004936490:253,034...259,965 		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_004936531:9,572,392...9,575,771
Ensembl chrNW_004936531:9,571,796...9,575,923 		JBrowse link
G Cd274 CD274 molecule ISO protein:increased expression:Tcell, B cell, monocyte RGD PMID:23661793 RGD:40818418 NCBI chrNW_004936539:132,870...145,288
Ensembl chrNW_004936539:132,868...143,602 		JBrowse link
G Cd36 CD36 molecule (CD36 blood group) susceptibility ISO DNA:SNPs: :rs1194182, rs10499859(human) RGD PMID:28693442 RGD:41412192 NCBI chrNW_004936810:791,823...838,303
Ensembl chrNW_004936810:758,182...838,365 		JBrowse link
G Cd86 CD86 molecule ISO protein:decreased expression:sputum, macrophage (human) RGD PMID:17713660 RGD:4892339 NCBI chrNW_004936536:8,414,491...8,481,712 JBrowse link
G Crp C-reactive protein severity ISO associated with HIV Infections RGD PMID:21197091 PMID:21219690 RGD:5131284 RGD:5131287 NCBI chrNW_004936740:885,855...888,854
Ensembl chrNW_004936740:883,272...890,606 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 treatment ISO RGD PMID:29843631 RGD:27095956 NCBI chrNW_004936676:60,869...63,028
Ensembl chrNW_004936676:60,621...63,106 		JBrowse link
G Ddit3 DNA damage inducible transcript 3 ISO mRNA,protein:increased expression:lung RGD PMID:20856677 RGD:34888225 NCBI chrNW_004936646:1,665,019...1,669,212 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_004936678:365,005...560,546
Ensembl chrNW_004936678:365,834...436,528 		JBrowse link
G Ereg epiregulin susceptibility ISO DNA:SNP:exon 4: (rs2367707) (human) RGD PMID:30634928 RGD:39457687 NCBI chrNW_004936598:1,328,803...1,336,141
Ensembl chrNW_004936598:1,328,803...1,344,360 		JBrowse link
G Foxp3 forkhead box P3 susceptibility ISO DNA:polymorphism:promoter:-924A>G(human) RGD PMID:29020928 RGD:38501101 NCBI chrNW_004936721:1,118,376...1,125,282
Ensembl chrNW_004936721:1,118,782...1,132,308 		JBrowse link
G Havcr2 hepatitis A virus cellular receptor 2 ISO RGD PMID:21382414 RGD:5135524 NCBI chrNW_004936515:6,001,324...6,015,407 JBrowse link
G Ido1 indoleamine 2,3-dioxygenase 1 treatment ISO RGD PMID:32369456 RGD:39939073 NCBI chrNW_004936843:658,058...672,662
Ensembl chrNW_004936843:657,979...672,700 		JBrowse link
G Il13 interleukin 13 ISO mRNA:increased expression:Leukocytes, Mononuclear RGD PMID:10608794 RGD:4145649 NCBI chrNW_004936647:2,529,933...2,532,503
Ensembl chrNW_004936647:2,530,491...2,532,373 		JBrowse link
G Il15 interleukin 15 ISO mRNA, protein:increased expression:lung RGD PMID:11742275 RGD:4990461 NCBI chrNW_004936535:6,344,348...6,358,803
Ensembl chrNW_004936535:6,344,395...6,350,197 		JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:serum RGD PMID:15955140 RGD:4889836 NCBI chrNW_004936612:2,306,963...2,325,086
Ensembl chrNW_004936612:2,306,875...2,325,189 		JBrowse link
G Il1a interleukin 1 alpha ISO RGD PMID:9176116 RGD:4142835 NCBI chrNW_004936783:1,210,715...1,218,315
Ensembl chrNW_004936783:1,210,809...1,218,315 		JBrowse link
G Il1b interleukin 1 beta severity
susceptibility		 ISO protein:increased expression:lung
protein:increased expression:bronchioalveolar lavage fluid (human)
DNA:polymorphism: :3953T>C (human)		 RGD PMID:10543265 PMID:10631206 PMID:16634865 RGD:4143179 RGD:4143180 RGD:5147843 NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165 		JBrowse link
G Il1rl1 interleukin 1 receptor like 1 ISO RGD PMID:28128217 RGD:39938965 NCBI chrNW_004936713:1,020,969...1,035,012
Ensembl chrNW_004936713:1,021,044...1,035,039 		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_004936783:1,447,158...1,466,331
Ensembl chrNW_004936783:1,447,106...1,466,340 		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_004936646:743,630...745,998
Ensembl chrNW_004936646:743,688...745,836 		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_004936501:11,972,715...11,978,152
Ensembl chrNW_004936501:11,973,385...11,976,583 		JBrowse link
G Il27ra interleukin 27 receptor subunit alpha ISO RGD PMID:15749890 RGD:5128486 NCBI chrNW_004936659:2,706,037...2,720,486
Ensembl chrNW_004936659:2,705,985...2,722,748 		JBrowse link
G Il33 interleukin 33 ISO RGD PMID:28128217 RGD:39938965 NCBI chrNW_004936539:763,755...791,461
Ensembl chrNW_004936539:623,248...791,470 		JBrowse link
G Il4r interleukin 4 receptor ISO protein:decreased expression:serum RGD PMID:21251883 RGD:5128510 NCBI chrNW_004936501:11,025,590...11,058,807
Ensembl chrNW_004936501:11,025,567...11,058,818 		JBrowse link
G Il6 interleukin 6 ISO RGD PMID:20624776 RGD:4143257 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Il6r interleukin 6 receptor ISO protein:decreased expression:T cell RGD PMID:20019339 RGD:5128632 NCBI chrNW_004936580:4,055,438...4,081,876
Ensembl chrNW_004936580:4,057,771...4,081,885 		JBrowse link
G Irf1 interferon regulatory factor 1 ISO RGD PMID:11083808 RGD:5128719 NCBI chrNW_004936647:2,686,247...2,693,633
Ensembl chrNW_004936647:2,686,414...2,693,636 		JBrowse link
G Itih4 inter-alpha-trypsin inhibitor heavy chain 4 ISO protein:increased expression:urine RGD PMID:29636444 RGD:40903003 NCBI chrNW_004936473:3,573,282...3,589,345
Ensembl chrNW_004936473:3,573,384...3,589,345 		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_004936522:3,034,364...3,037,632
Ensembl chrNW_004936522:3,035,346...3,036,350 		JBrowse link
G Lcn2 lipocalin 2 exacerbates
disease_progression		 ISO RGD PMID:19050270 PMID:30534124 RGD:126779558 RGD:126779565 NCBI chrNW_004936487:15,721,752...15,725,396
Ensembl chrNW_004936487:15,721,684...15,728,221 		JBrowse link
G LOC101958945 1,4-alpha-glucan-branching enzyme ISO DNA:SNP:intron:rs2307058 (human) RGD PMID:28355295 RGD:18337291 NCBI chrNW_004936505:2,077,206...2,242,079
Ensembl chrNW_004936505:1,974,264...2,241,427 		JBrowse link
G LOC101963197 HLA class II histocompatibility antigen, DP beta 1 chain ISO RGD PMID:18652916 RGD:5144001 NCBI chrNW_004936476:25,730,800...25,741,089
Ensembl chrNW_004936476:25,730,596...25,741,145 		JBrowse link
G LOC101964975 interleukin-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_004936598:1,779,471...1,781,353
Ensembl chrNW_004936598:1,779,471...1,781,353 		JBrowse link
G LOC101967032 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_004936641:1,036,967...1,044,954
Ensembl chrNW_004936641:1,036,967...1,044,991 		JBrowse link
G Lta lymphotoxin alpha susceptibility ISO DNA:polymorphism:intron:252G>A (human) RGD PMID:20180006 RGD:4143234 NCBI chrNW_004936727:1,940,081...1,941,022
Ensembl chrNW_004936727:1,940,081...1,941,022 		JBrowse link
G Marco macrophage receptor with collagenous structure susceptibility ISO DNA:SNPs: :rs2278589, rs6751745,rs6748401 (human)
DNA:SNPs:introns:rs4491733,rs12998782,rs13389814,rs7559955 (human)
DNA:SNP: :rs12998782(human)		 RGD PMID:23617307 PMID:27853145 PMID:28693442 RGD:41412192 RGD:41412194 RGD:41412195 NCBI chrNW_004936469:51,323,746...51,366,551 JBrowse link
G Mif macrophage migration inhibitory factor susceptibility ISO DNA:SNP: :rs755622 (human) RGD PMID:20439102 RGD:4891004 NCBI chrNW_004936619:1,207,058...1,208,010
Ensembl chrNW_004936619:1,203,746...1,208,442 		JBrowse link
G Mmp7 matrix metallopeptidase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24890593 NCBI chrNW_004936551:5,388,456...5,395,071
Ensembl chrNW_004936551:5,388,459...5,395,071 		JBrowse link
G Mmp8 matrix metallopeptidase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24890593 NCBI chrNW_004936551:5,228,950...5,238,948
Ensembl chrNW_004936551:5,228,950...5,238,948 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:16982845 RGD:5130746 NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793 		JBrowse link
G Nfkbia NFKB inhibitor alpha ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:9379002 RGD:126908014 NCBI chrNW_004936494:9,537,793...9,541,187
Ensembl chrNW_004936494:9,537,008...9,541,612 		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_004936475:3,708,069...3,742,845
Ensembl chrNW_004936475:3,713,362...3,745,982 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO DNA:SNPs:multiple (human) RGD PMID:19575238 RGD:4144122 NCBI chrNW_004936538:4,052,277...4,097,051
Ensembl chrNW_004936538:4,052,448...4,097,051 		JBrowse link
G Pdcd1 programmed cell death 1 treatment ISO protein:increased expression:Tcell, B cell, monocyte RGD PMID:23661793 RGD:40818418 NCBI chrNW_004936745:152,571...163,712
Ensembl chrNW_004936745:152,612...161,587 		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_004936539:190,583...229,936
Ensembl chrNW_004936539:190,637...234,873 		JBrowse link
G Plaur plasminogen activator, urokinase receptor severity ISO RGD PMID:18359089 RGD:6483832 NCBI chrNW_004936706:840,968...855,552 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_004936690:2,180,804...2,232,869
Ensembl chrNW_004936690:2,181,047...2,232,958 		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_004936569:888,309...895,991
Ensembl chrNW_004936569:887,742...895,977 		JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member ISO associated with HIV Infections; RGD PMID:21843574 RGD:6482248 NCBI chrNW_004936476:25,899,514...25,907,690
Ensembl chrNW_004936476:25,899,339...25,907,695 		JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:polymorphism: : RGD PMID:9062973 RGD:5147851 NCBI chrNW_004936476:25,913,699...25,923,419
Ensembl chrNW_004936476:25,913,663...25,923,427 		JBrowse link
G Tlr1 toll like receptor 1 ISO mRNA:increased expression:blood RGD PMID:16493059 RGD:4889525 NCBI chrNW_004936482:6,582,430...6,591,128
Ensembl chrNW_004936482:6,582,584...6,584,971 		JBrowse link
G Tlr2 toll like receptor 2 susceptibility ISO mRNA, protein:increased expression:blood, T cell
DNA:polymorphisms: :multiple (human)
DNA:SNP: :rs1816702 (human)
DNA:polymorphism:intron (human)		 RGD PMID:19552525 PMID:19723394 PMID:20113509 PMID:20298136 RGD:4145304 RGD:4145320 RGD:4145323 RGD:4145355 NCBI chrNW_004936576:522,234...531,660
Ensembl chrNW_004936576:527,434...529,788 		JBrowse link
G Tlr4 toll like receptor 4 severity
susceptibility		 ISO DNA:polymorphisms:cds: p. D299F, T399I (human)
DNA:SNP:intron: rs5030729 (human)
protein:increased expression:monocyte		 RGD PMID:18008256 PMID:19575238 PMID:20403143 RGD:4144106 RGD:4144122 RGD:4144205 NCBI chrNW_004936487:6,519,140...6,532,018
Ensembl chrNW_004936487:6,518,441...6,533,095 		JBrowse link
G Tnf tumor necrosis factor susceptibility
disease_progression		 ISO DNA:polymorphisms::c.-857 C>T, c. -863 A>C (human) RGD PMID:9176116 PMID:18212516 PMID:20650298 RGD:4142835 RGD:4143388 RGD:4143395 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766 		JBrowse link
G Trem1 triggering receptor expressed on myeloid cells 1 disease_progression ISO RGD PMID:29844416 RGD:126925977 NCBI chrNW_004936476:18,577,825...18,583,675
Ensembl chrNW_004936476:18,574,381...18,583,647 		JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNPs:promoter, 3' UTR (human)
DNA:SNP (human)
DNA:SNPs:5' UTR (human)
DNA:SNPs (human)		 RGD PMID:15295697 PMID:17236578 PMID:18231846 PMID:18397302 PMID:20231985 RGD:4889830 RGD:4889842 RGD:4889845 RGD:4889849 RGD:4889853 NCBI chrNW_004936512:5,741,836...5,800,999
Ensembl chrNW_004936512:5,740,748...5,801,109 		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_004936501:11,025,590...11,058,807
Ensembl chrNW_004936501:11,025,567...11,058,818 		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_004936531:8,555,966...8,562,829
Ensembl chrNW_004936531:8,555,637...8,562,885 		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_004936476:25,913,699...25,923,419
Ensembl chrNW_004936476:25,913,663...25,923,427 		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_004936727:1,418,342...1,422,005
Ensembl chrNW_004936727:1,418,799...1,422,147 		JBrowse link
G Btnl2 butyrophilin like 2 susceptibility
no_association		 ISO DNA:SNPs,haplotypes: : rs3763313, rs9268494, rs9268492(human) RGD PMID:17347014 PMID:20176143 RGD:9685035 RGD:9685036 NCBI chrNW_004936727:567,656...587,784
Ensembl chrNW_004936727:567,656...587,784 		JBrowse link
G Cbs cystathionine beta-synthase severity ISO protein:increased expression:macrophages (mouse) RGD PMID:31992699 RGD:40903052 NCBI chrNW_004936500:976,043...1,003,559
Ensembl chrNW_004936500:987,128...1,003,388 		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_004936538:781,687...784,199
Ensembl chrNW_004936538:781,687...784,199 		JBrowse link
G Cd274 CD274 molecule ISO mRNA, protein:increased expression:blood, neutrophil RGD PMID:21509782 RGD:41412173 NCBI chrNW_004936539:132,870...145,288
Ensembl chrNW_004936539:132,868...143,602 		JBrowse link
G Cd86 CD86 molecule ISO protein:increased expression:lung (mouse) RGD PMID:18292558 RGD:4892329 NCBI chrNW_004936536:8,414,491...8,481,712 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_004936712:885,301...891,247
Ensembl chrNW_004936712:885,458...890,852 		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_004936530:9,033,510...9,073,341 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_004936529:2,116,786...2,124,469
Ensembl chrNW_004936529:2,118,325...2,124,684 		JBrowse link
G Coro1a coronin 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16040207 NCBI chrNW_004936501:12,338,542...12,344,236
Ensembl chrNW_004936501:12,338,542...12,344,265 		JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO protein:increased expression:serum RGD PMID:19281538 RGD:5135308 NCBI chrNW_004936676:33,580...40,323
Ensembl chrNW_004936676:32,128...40,329 		JBrowse link
G Ereg epiregulin susceptibility ISO DNA:SNP:intron: (rs7675690) (human) RGD PMID:22170233 RGD:39457686 NCBI chrNW_004936598:1,328,803...1,336,141
Ensembl chrNW_004936598:1,328,803...1,344,360 		JBrowse link
G Has1 hyaluronan synthase 1 ISO RGD PMID:19876387 RGD:9588638 NCBI chrNW_004937026:125,622...132,141
Ensembl chrNW_004937026:125,881...135,235 		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_004936545:6,139,130...6,144,543
Ensembl chrNW_004936545:6,139,116...6,148,452 		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_004936560:4,519,858...4,545,763
Ensembl chrNW_004936560:4,519,474...4,545,796 		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_004936596:3,062,620...3,076,349 JBrowse link
G Il15 interleukin 15 ISO mRNA:altered expression:lung, spleen RGD PMID:16367949 RGD:4987456 NCBI chrNW_004936535:6,344,348...6,358,803
Ensembl chrNW_004936535:6,344,395...6,350,197 		JBrowse link
G Il22 interleukin 22 ISO RGD PMID:21767990 RGD:5147402 NCBI chrNW_004936545:6,227,118...6,231,745
Ensembl chrNW_004936545:6,227,118...6,231,745 		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_004936501:11,972,715...11,978,152
Ensembl chrNW_004936501:11,973,385...11,976,583 		JBrowse link
G Il33 interleukin 33 ISO associated with Pleural Effusion;protein:increased expression:pleural biopsy RGD PMID:25755791 RGD:40400701 NCBI chrNW_004936539:763,755...791,461
Ensembl chrNW_004936539:623,248...791,470 		JBrowse link
G Irak3 interleukin 1 receptor associated kinase 3 ISO mRNA, protein:increased expression:sputum (human) RGD PMID:19535630 RGD:36049800 NCBI chrNW_004936545:4,233,353...4,284,324
Ensembl chrNW_004936545:4,233,358...4,282,806 		JBrowse link
G LOC101964975 interleukin-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_004936598:1,779,471...1,781,353
Ensembl chrNW_004936598:1,779,471...1,781,353 		JBrowse link
G LOC101972667 immunity related GTPase M ISO OMIM NCBI chrNW_004936504:4,055,091...4,056,089 JBrowse link
G LOC101976500 haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chrNW_004936475:21,841,054...21,845,821 JBrowse link
G Mapkapk3 MAPK activated protein kinase 3 ISO ClinVar Annotator: match by term: Tuberculosis, susceptibility to ClinVar PMID:20484391 NCBI chrNW_004936529:2,130,421...2,159,859
Ensembl chrNW_004936529:2,130,252...2,160,313 		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_004936509:6,589,967...6,621,171
Ensembl chrNW_004936509:6,590,630...6,620,262 		JBrowse link
G Nrg1 neuregulin 1 susceptibility ISO DNA:SNP, haplotype: (rs16879814) RGD PMID:25919455 RGD:39456091 NCBI chrNW_004936766:1,104,841...1,306,368
Ensembl chrNW_004936766:1,104,728...1,305,972 		JBrowse link
G Pdcd1 programmed cell death 1 treatment ISO RGD PMID:27865385 RGD:41412174 NCBI chrNW_004936745:152,571...163,712
Ensembl chrNW_004936745:152,612...161,587 		JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO RGD PMID:30514491 RGD:38599199 NCBI chrNW_004936479:17,084,006...17,112,264
Ensembl chrNW_004936479:17,084,920...17,112,258 		JBrowse link
G Ripk3 receptor interacting serine/threonine kinase 3 exacerbates ISO RGD PMID:29892302 RGD:127229926 NCBI chrNW_004936722:209,019...212,817
Ensembl chrNW_004936722:209,013...212,839 		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_004936569:888,309...895,991
Ensembl chrNW_004936569:887,742...895,977 		JBrowse link
G Sp110 SP110 nuclear body protein ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to ClinVar
OMIM		 PMID:16803959 PMID:16816019 PMID:17149599 PMID:24033266 PMID:25741868 More... NCBI chrNW_004936525:6,317,004...6,336,413 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_004936525:6,239,566...6,301,657 JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:15863395 RGD:1581371 NCBI chrNW_004936905:148,956...156,023
Ensembl chrNW_004936905:148,945...156,079 		JBrowse link
G Sting1 stimulator of interferon response cGAMP interactor 1 ISO RGD PMID:29791904 RGD:39128196 NCBI chrNW_004936531:8,555,966...8,562,829
Ensembl chrNW_004936531:8,555,637...8,562,885 		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_004936572:5,926,193...5,938,621
Ensembl chrNW_004936572:5,924,158...5,938,658 		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_004936482:6,582,430...6,591,128
Ensembl chrNW_004936482:6,582,584...6,584,971 		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_004936576:522,234...531,660
Ensembl chrNW_004936576:527,434...529,788 		JBrowse link
G Tlr4 toll like receptor 4 ISO RGD PMID:12218133 RGD:4144821 NCBI chrNW_004936487:6,519,140...6,532,018
Ensembl chrNW_004936487:6,518,441...6,533,095 		JBrowse link
G Tlr6 toll like receptor 6 susceptibility ISO DNA:missense mutations:cds:multiple (human) RGD PMID:18091991 RGD:7246918 NCBI chrNW_004936482:6,607,723...6,610,161
Ensembl chrNW_004936482:6,607,753...6,610,143 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum RGD PMID:20537163 RGD:4143229 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766 		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_004936474:908,414...935,765
Ensembl chrNW_004936474:908,485...934,177 		JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30202016 NCBI chrNW_004936487:4,057,637...4,081,207
Ensembl chrNW_004936487:4,057,643...4,081,207 		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_004936512:5,741,836...5,800,999
Ensembl chrNW_004936512:5,740,748...5,801,109 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14569
    disease by infectious agent 2000
      Bacterial Infections and Mycoses 987
        bacterial infectious disease 744
          Gram-Positive Bacterial Infections 351
            Actinomycetales Infections 286
              Mycobacterium Infections 285
                Immunodeficiency 86 1
                Immunodeficiency 88 1
                Nontuberculous Mycobacterium Infections + 150
                Paratuberculosis 6
                immunodeficiency 31B 19
                leprosy + 30
                tuberculosis + 102
paths to the root