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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Mycobacterium Infections
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Accession:DOID:9001415 term browser browse the term
Definition:Infections with bacteria of the genus MYCOBACTERIUM.
Synonyms:exact_synonym: Mycobacterial Disease;   mycobacterium infection
 narrow_synonym: RECURRENT MYCOBACTERIAL INFECTIONS
 related_synonym: Mycobacterial Disease, Mendelian Susceptibility to
 primary_id: MESH:D009164
 xref: EFO:0009429


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Mycobacterium Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO associated with pulmonary sarcoidosis;protein:increased expression:blood serum (human) RGD PMID:15881283 RGD:40818305 NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790 		JBrowse link
G Cd36 CD36 molecule IMP RGD PMID:20950462 RGD:6893545 NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799 		JBrowse link
G Defb3 defensin beta 3 ISO protein:increased expression:plasma, respiratory system fluid/secretion RGD PMID:11296379 RGD:4892261 NCBI chr 8:19,343,377...19,345,355
Ensembl chr 8:19,343,376...19,345,307 		JBrowse link
G Defb4 defensin beta 4 ISO protein:increased expression:plasma, respiratory system fluid/secretion RGD PMID:11296379 RGD:4892261 NCBI chr 8:19,248,720...19,251,563
Ensembl chr 8:19,248,722...19,251,561 		JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility ISO associated with pulmonary sarcoidosis RGD PMID:15881283 RGD:40818305 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648 		JBrowse link
G Ifng interferon gamma ISO associated with Diabetes Mellitus, Insulin-Dependent;mRNA:increased expression:lung RGD PMID:19060451 RGD:2311490 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Ifngr1 interferon gamma receptor 1 ISO DNA: missense mutations: cds: I87T; V63G
DNA: mutation		 RGD PMID:21266457 PMID:15589309 RGD:6480268, RGD:6480429 NCBI chr10:19,467,697...19,485,977
Ensembl chr10:19,467,697...19,485,977 		JBrowse link
G Il22 interleukin 22 ISO RGD PMID:19864591 RGD:5147407 NCBI chr10:118,040,456...118,045,952
Ensembl chr10:118,040,847...118,045,952 		JBrowse link
G Il22b interleukin 22B ISO RGD PMID:19864591 RGD:5147407 NCBI chr10:118,125,534...118,130,943
Ensembl chr10:118,125,534...118,130,943 		JBrowse link
G Mir146 microRNA 146 IEP miRNA:altered expression:peritoneum, liver (mouse) RGD PMID:27025258 RGD:126925155 NCBI chr11:43,265,224...43,265,288
Ensembl chr11:43,265,224...43,265,288 		JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 ameliorates IMP RGD PMID:28401933 RGD:127229921 NCBI chr14:56,022,452...56,026,314
Ensembl chr14:56,022,452...56,026,322 		JBrowse link
G Slc11a1 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 IAGP DNA:point mutation (mouse) RGD PMID:11821237 RGD:5684969 NCBI chr 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221 		JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11452125 NCBI chr 1:52,158,588...52,201,024
Ensembl chr 1:52,158,599...52,201,024 		JBrowse link
G Tnfrsf8 tumor necrosis factor receptor superfamily, member 8 ISO CTD Direct Evidence: therapeutic CTD PMID:15316035 NCBI chr 4:144,993,702...145,041,734
Ensembl chr 4:144,993,707...145,041,734 		JBrowse link
G Tnfsf8 tumor necrosis factor (ligand) superfamily, member 8 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:15316035 PMID:18941223 NCBI chr 4:63,749,439...63,779,745
Ensembl chr 4:63,749,545...63,779,584 		JBrowse link
Bovine Tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il23a interleukin 23, alpha subunit p19 IMP RGD PMID:16923792 RGD:39457937 NCBI chr10:128,132,009...128,133,953
Ensembl chr10:128,132,008...128,134,621 		JBrowse link
G Il4 interleukin 4 ISO CTD Direct Evidence: therapeutic CTD PMID:17387165 NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496 		JBrowse link
Buruli ulcer disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc11a1 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 susceptibility ISO ClinVar Annotator: match by term: Buruli ulcer, susceptibility to
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:16395392 NCBI chr 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221 		JBrowse link
extrapulmonary tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd209b CD209b antigen susceptibility ISO DNA:repeats:exon 4: allele 6, allele 9 (human) RGD PMID:24874302 RGD:39938981 NCBI chr 8:3,967,655...3,976,841
Ensembl chr 8:3,967,655...3,976,844 		JBrowse link
G Cxcl15 C-X-C motif chemokine ligand 15 ISO protein:increased expression:serum (human) RGD PMID:16001981 RGD:39939055 NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926 		JBrowse link
G Ereg epiregulin susceptibility ISO DNA:SNP:exon 4: (rs2367707) (human) RGD PMID:30634928 RGD:39457687 NCBI chr 5:91,222,476...91,241,508
Ensembl chr 5:91,222,481...91,241,505 		JBrowse link
Immunodeficiency 117 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irf1 interferon regulatory factor 1 ISO ClinVar Annotator: match by term: Immunodeficiency 117 OMIM
ClinVar		 NCBI chr11:53,660,841...53,669,200
Ensembl chr11:53,660,841...53,669,200 		JBrowse link
immunodeficiency 27A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bclaf1 BCL2-associated transcription factor 1 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr10:20,187,897...20,218,390
Ensembl chr10:20,188,215...20,220,359 		JBrowse link
G Ifngr1 interferon gamma receptor 1 susceptibility ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar
OMIM		 PMID:8960473 PMID:8960475 PMID:9142806 PMID:9389728 PMID:9497247 More... NCBI chr10:19,467,697...19,485,977
Ensembl chr10:19,467,697...19,485,977 		JBrowse link
G Ifngr2 interferon gamma receptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr16:91,343,947...91,360,895
Ensembl chr16:91,343,960...91,362,511 		JBrowse link
G Il12rb1 interleukin 12 receptor, beta 1 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:19460324 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 8:71,261,005...71,276,186
Ensembl chr 8:71,261,093...71,274,068 		JBrowse link
G Il20ra interleukin 20 receptor, alpha ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr10:19,587,421...19,635,801
Ensembl chr10:19,588,318...19,635,801 		JBrowse link
G Il22ra2 interleukin 22 receptor, alpha 2 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr10:19,497,776...19,510,429
Ensembl chr10:19,497,746...19,510,429 		JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr10:19,809,847...20,018,496
Ensembl chr10:19,810,218...20,018,499 		JBrowse link
G Map7 microtubule-associated protein 7 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr10:20,024,666...20,157,336
Ensembl chr10:20,024,217...20,157,336 		JBrowse link
G Mtfr2 mitochondrial fission regulator 2 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr10:20,223,491...20,237,415
Ensembl chr10:20,223,516...20,237,050 		JBrowse link
G Pde7b phosphodiesterase 7B ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr10:20,272,798...20,600,824
Ensembl chr10:20,273,750...20,600,824 		JBrowse link
G Pex7 peroxisomal biogenesis factor 7 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr10:19,735,836...19,783,420
Ensembl chr10:19,729,646...19,783,435 		JBrowse link
G Slc35d3 solute carrier family 35, member D3 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr10:19,723,662...19,728,195
Ensembl chr10:19,723,662...19,727,205 		JBrowse link
immunodeficiency 31B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1700019D03Rik RIKEN cDNA 1700019D03 gene ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 1:52,961,483...53,031,816
Ensembl chr 1:52,961,483...53,059,338 		JBrowse link
G Ankar ankyrin and armadillo repeat containing ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 1:72,682,139...72,739,743
Ensembl chr 1:72,682,139...72,739,738 		JBrowse link
G Asnsd1 asparagine synthetase domain containing 1 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 1:53,383,776...53,391,911
Ensembl chr 1:53,364,666...53,391,826
Ensembl chr 1:53,364,666...53,391,826 		JBrowse link
G Col3a1 collagen, type III, alpha 1 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 1:45,350,698...45,388,866
Ensembl chr 1:45,350,698...45,388,866 		JBrowse link
G Col5a2 collagen, type V, alpha 2 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 1:45,413,491...45,542,442
Ensembl chr 1:45,413,481...45,542,442 		JBrowse link
G Gls glutaminase ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 1:52,202,608...52,274,168
Ensembl chr 1:52,202,607...52,272,391 		JBrowse link
G Hibch 3-hydroxyisobutyryl-Coenzyme A hydrolase ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 1:52,884,197...52,960,145
Ensembl chr 1:52,884,088...52,960,145 		JBrowse link
G Inpp1 inositol polyphosphate-1-phosphatase ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 1:52,824,584...52,856,847
Ensembl chr 1:52,824,586...52,856,847 		JBrowse link
G Mfsd6 major facilitator superfamily domain containing 6 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 1:52,695,463...52,766,495
Ensembl chr 1:52,695,445...52,766,621 		JBrowse link
G Mstn myostatin ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 1:53,100,799...53,107,238
Ensembl chr 1:53,100,799...53,107,238 		JBrowse link
G Nab1 Ngfi-A binding protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 1:52,494,146...52,539,553
Ensembl chr 1:52,496,453...52,539,838 		JBrowse link
G Nemp2 nuclear envelope integral membrane protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 1:52,669,850...52,691,078
Ensembl chr 1:52,669,862...52,691,078 		JBrowse link
G Ormdl1 ORM1-like 1 (S. cerevisiae) ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 1:53,336,254...53,349,404
Ensembl chr 1:53,336,254...53,349,468 		JBrowse link
G Osgepl1 O-sialoglycoprotein endopeptidase-like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 1:53,352,070...53,365,502
Ensembl chr 1:53,352,783...53,365,502 		JBrowse link
G Pms1 postmeiotic segregation increased 1 (S. cerevisiae) ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 1:53,225,794...53,336,190
Ensembl chr 1:53,228,346...53,336,177 		JBrowse link
G Slc40a1 solute carrier family 40 (iron-regulated transporter), member 1 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 1:45,947,230...45,965,690
Ensembl chr 1:45,947,228...45,965,683 		JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Immunodeficiency 31B | ClinVar Annotator: match by term: Mycobacterial and viral infections, susceptibility to, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:12590259 PMID:16199547 PMID:16585605 PMID:17576681 More... NCBI chr 1:52,158,588...52,201,024
Ensembl chr 1:52,158,599...52,201,024 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:22651901 PMID:28492532 NCBI chr 1:52,026,265...52,146,348
Ensembl chr 1:52,026,307...52,146,348 		JBrowse link
G Wdr75 WD repeat domain 75 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 1:45,834,313...45,862,798
Ensembl chr 1:45,834,326...45,862,779 		JBrowse link
immunodeficiency 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP-binding cassette, sub-family D member 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:72,760,203...72,782,140
Ensembl chr  X:72,760,203...72,782,140 		JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:72,937,958...72,954,945
Ensembl chr  X:72,935,048...72,965,476 		JBrowse link
G Atp2b3 ATPase, Ca++ transporting, plasma membrane 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:72,546,356...72,632,267
Ensembl chr  X:72,546,692...72,614,611 		JBrowse link
G Atp6ap1 ATPase, H+ transporting, lysosomal accessory protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,340,753...73,348,297
Ensembl chr  X:73,340,703...73,348,327 		JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:72,935,371...72,938,034
Ensembl chr  X:72,935,708...72,939,108 		JBrowse link
G Bcap31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:72,729,784...72,761,464
Ensembl chr  X:72,729,784...72,759,781 		JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:72,527,207...72,539,542
Ensembl chr  X:72,527,208...72,539,539 		JBrowse link
G Brcc3 BRCA1/BRCA2-containing complex, subunit 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:74,460,234...74,499,307
Ensembl chr  X:74,460,234...74,497,607 		JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr11:78,641,332...78,642,555
Ensembl chr11:78,641,332...78,642,555 		JBrowse link
G Cmc4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:74,448,452...74,460,190
Ensembl chr  X:74,448,452...74,460,190 		JBrowse link
G Ctag2l2 CTAG2 like 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,784,533...73,785,794
Ensembl chr  X:73,784,533...73,785,794 		JBrowse link
G Dkc1 dyskeratosis congenita 1, dyskerin ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:74,139,460...74,153,382
Ensembl chr  X:74,139,460...74,153,383 		JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,316,823...73,325,939
Ensembl chr  X:73,316,823...73,325,943 		JBrowse link
G Dusp9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:72,682,995...72,687,120
Ensembl chr  X:72,683,025...72,687,120 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,298,297...73,305,188
Ensembl chr  X:73,298,293...73,305,154 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:74,213,950...74,426,342
Ensembl chr  X:74,216,321...74,426,221 		JBrowse link
G F8a factor 8-associated gene A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:72,271,912...72,274,401
Ensembl chr  X:72,271,897...72,274,401 		JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,427,816...73,436,856
Ensembl chr  X:73,428,325...73,436,878 		JBrowse link
G Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,356,589...73,363,761
Ensembl chr  X:73,356,639...73,363,755 		JBrowse link
G Flna filamin, alpha ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,267,067...73,293,787
Ensembl chr  X:73,267,067...73,293,426 		JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:74,426,005...74,440,764
Ensembl chr  X:74,426,005...74,440,065 		JBrowse link
G G6pdx glucose-6-phosphate dehydrogenase X-linked ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,453,089...73,472,486
Ensembl chr  X:73,453,089...73,472,800 		JBrowse link
G Gab3 growth factor receptor bound protein 2-associated protein 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:74,032,151...74,128,511
Ensembl chr  X:74,010,449...74,129,064 		JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,348,618...73,355,473
Ensembl chr  X:73,348,604...73,355,468 		JBrowse link
G H2ab2 H2A.B variant histone 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:115,590,875...115,591,222
Ensembl chr  X:115,590,875...115,591,222 		JBrowse link
G H2ab3 H2A.B variant histone 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:119,222,279...119,222,923
Ensembl chr  X:119,222,445...119,222,792 		JBrowse link
G Haus7 HAUS augmin-like complex, subunit 7 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:72,480,921...72,502,635
Ensembl chr  X:72,480,921...72,502,650 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:72,986,400...73,011,430
Ensembl chr  X:72,986,398...73,009,963 		JBrowse link
G Idh3g isocitrate dehydrogenase 3 (NAD+), gamma ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:72,822,569...72,830,471
Ensembl chr  X:72,822,569...72,830,503 		JBrowse link
G Ikbkg inhibitor of kappaB kinase gamma ISO ClinVar Annotator: match by term: Immunodeficiency 33
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11484156 PMID:11590134 More... NCBI chr  X:73,436,883...73,498,013
Ensembl chr  X:73,436,896...73,497,460 		JBrowse link
G Il9r interleukin 9 receptor ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr11:32,137,544...32,155,283
Ensembl chr11:32,137,541...32,150,279 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,057,520...73,067,527
Ensembl chr  X:73,057,520...73,067,524 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:72,897,384...72,924,843
Ensembl chr  X:72,897,384...72,939,711 		JBrowse link
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,395,768...73,397,224
Ensembl chr  X:73,394,882...73,397,224 		JBrowse link
G LOC107963956 green (M) opsin gene upstream regulatory region ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,166,107...73,171,117 JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,070,198...73,129,296
Ensembl chr  X:73,070,198...73,129,296 		JBrowse link
G Mir664 microRNA 664 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr 1:184,975,172...184,975,240
Ensembl chr 1:184,975,172...184,975,240 		JBrowse link
G Mir718 microRNA 718 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,067,455...73,067,542
Ensembl chr  X:73,067,455...73,067,542 		JBrowse link
G Mpp1 membrane protein, palmitoylated ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:74,153,339...74,174,622
Ensembl chr  X:74,153,339...74,174,622 		JBrowse link
G Mtcp1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:74,454,048...74,460,190
Ensembl chr  X:74,454,050...74,460,194 		JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:72,960,476...72,965,550
Ensembl chr  X:72,960,479...72,965,550 		JBrowse link
G Opn1mw opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan) ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,171,072...73,194,362
Ensembl chr  X:73,171,070...73,194,366 		JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:72,836,963...72,868,649
Ensembl chr  X:72,836,965...72,868,575 		JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,372,644...73,388,295
Ensembl chr  X:73,372,672...73,388,295 		JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:72,800,564...72,816,116
Ensembl chr  X:72,800,696...72,816,120 		JBrowse link
G Pnck pregnancy upregulated non-ubiquitously expressed CaM kinase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:72,699,598...72,703,723
Ensembl chr  X:72,699,600...72,703,723 		JBrowse link
G Rab39b RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:74,615,651...74,621,837
Ensembl chr  X:74,615,652...74,621,837 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:72,965,727...72,974,408
Ensembl chr  X:72,965,727...72,974,456 		JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,314,463...73,316,741
Ensembl chr  X:73,314,418...73,316,741 		JBrowse link
G Slc10a3 solute carrier family 10 (sodium/bile acid cotransporter family), member 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,412,823...73,416,955
Ensembl chr  X:73,412,823...73,416,955 		JBrowse link
G Slc6a8 solute carrier family 6 (neurotransmitter transporter, creatine), member 8 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:72,716,739...72,726,108
Ensembl chr  X:72,716,756...72,726,108 		JBrowse link
G Smim9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:74,189,663...74,207,362
Ensembl chr  X:74,189,662...74,207,376 		JBrowse link
G Snora70 small nucleolar RNA, H/ACA box 70 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,316,098...73,316,226
Ensembl chr  X:73,316,090...73,316,226 		JBrowse link
G Spry3 sprouty RTK signaling antagonist 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868
G Srpk3 serine/arginine-rich protein specific kinase 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:72,818,011...72,822,531
Ensembl chr  X:72,818,011...72,822,531 		JBrowse link
G Ssr4 signal sequence receptor, delta ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:72,830,778...72,834,432
Ensembl chr  X:72,830,634...72,834,436 		JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,325,498...73,340,182
Ensembl chr  X:73,325,518...73,333,757 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,194,515...73,211,444
Ensembl chr  X:73,194,550...73,211,444 		JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,220,865...73,252,104
Ensembl chr  X:73,220,865...73,252,106 		JBrowse link
G Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868
G Trex2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:72,477,311...72,478,949
Ensembl chr  X:72,477,311...72,478,950 		JBrowse link
G Ubl4a ubiquitin-like 4A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:73,409,324...73,412,154
Ensembl chr  X:73,409,324...73,416,824 		JBrowse link
G Vamp7 vesicle-associated membrane protein 7 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868
G Vbp1 von Hippel-Lindau binding protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:74,557,903...74,578,552
Ensembl chr  X:74,557,905...74,578,548 		JBrowse link
immunodeficiency 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cybb cytochrome b-245, beta polypeptide ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency		 OMIM
CTD
ClinVar		 PMID:8634410 PMID:8655140 PMID:8900212 PMID:8916969 PMID:9536098 More... NCBI chr  X:9,301,493...9,354,005
Ensembl chr  X:9,301,491...9,354,010 		JBrowse link
immunodeficiency 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 9430015G10Rik RIKEN cDNA 9430015G10 gene ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,194,455...156,211,720
Ensembl chr 4:156,194,439...156,211,722 		JBrowse link
G Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,976,332...155,991,708
Ensembl chr 4:155,976,279...155,991,708 		JBrowse link
G Actrt2 actin-related protein T2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,750,885...154,752,324
Ensembl chr 4:154,750,890...154,752,324 		JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,249,747...156,281,997
Ensembl chr 4:156,249,747...156,281,945 		JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,875,432...155,884,132
Ensembl chr 4:155,874,896...155,877,659 		JBrowse link
G Arhgef16 Rho guanine nucleotide exchange factor 16 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,362,926...154,384,535
Ensembl chr 4:154,362,943...154,386,133 		JBrowse link
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,825,097...155,845,579
Ensembl chr 4:155,825,098...155,845,550 		JBrowse link
G Aurkaip1 aurora kinase A interacting protein 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,915,709...155,917,555
Ensembl chr 4:155,915,729...155,917,587 		JBrowse link
G B3galt6 UDP-Gal:betaGal beta 1,3-galactosyltransferase, polypeptide 6 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,073,923...156,077,135
Ensembl chr 4:156,073,923...156,077,106 		JBrowse link
G C1qtnf12 C1q and tumor necrosis factor related 12 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,046,769...156,051,086
Ensembl chr 4:156,046,775...156,051,086 		JBrowse link
G Ccdc27 coiled-coil domain containing 27 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,111,101...154,127,202
Ensembl chr 4:154,111,096...154,127,134 		JBrowse link
G Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,894,468...155,909,005
Ensembl chr 4:155,896,946...155,909,000 		JBrowse link
G Cdk11b cyclin dependent kinase 11B ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,709,303...155,734,392
Ensembl chr 4:155,709,311...155,734,395 		JBrowse link
G Cep104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,059,649...154,093,189
Ensembl chr 4:154,059,651...154,093,189 		JBrowse link
G Cfap74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,493,647...155,551,280
Ensembl chr 4:155,493,647...155,551,280 		JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,949,180...155,953,897
Ensembl chr 4:155,949,180...155,953,897 		JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,931,829...155,943,760
Ensembl chr 4:155,931,859...155,943,760 		JBrowse link
G Faap20 Fanconi anemia core complex associated protein 20 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,333,168...155,341,144
Ensembl chr 4:155,334,259...155,341,144 		JBrowse link
G Fndc10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,778,775...155,780,942
Ensembl chr 4:155,778,799...155,780,938 		JBrowse link
G Gabrd gamma-aminobutyric acid (GABA) A receptor, subunit delta ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,469,437...155,482,528
Ensembl chr 4:155,469,437...155,482,569 		JBrowse link
G Gnb1 guanine nucleotide binding protein (G protein), beta 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,575,514...155,643,726
Ensembl chr 4:155,575,818...155,643,726 		JBrowse link
G Hes5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,042,358...155,046,829
Ensembl chr 4:155,045,380...155,046,828 		JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,954,006...155,973,561
Ensembl chr 4:155,954,003...155,973,560 		JBrowse link
G Isg15 ISG15 ubiquitin-like modifier ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency OMIM
ClinVar		 PMID:9536098 PMID:9683594 PMID:10862081 PMID:17576681 PMID:19492091 More... NCBI chr 4:156,283,881...156,285,275
Ensembl chr 4:156,283,912...156,285,253 		JBrowse link
G Klhl17 kelch-like 17 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,313,501...156,319,314
Ensembl chr 4:156,313,792...156,319,314 		JBrowse link
G Lrrc47 leucine rich repeat containing 47 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,096,260...154,105,969
Ensembl chr 4:154,096,188...154,105,970 		JBrowse link
G Megf6 multiple EGF-like-domains 6 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,255,156...154,360,178
Ensembl chr 4:154,255,187...154,360,170 		JBrowse link
G Mib2 mindbomb E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,738,925...155,753,711
Ensembl chr 4:155,739,134...155,753,655 		JBrowse link
G Mir200a microRNA 200a ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,139,353...156,139,442
Ensembl chr 4:156,139,353...156,139,442 		JBrowse link
G Mir200b microRNA 200b ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,140,138...156,140,207
Ensembl chr 4:156,140,138...156,140,207 		JBrowse link
G Mir429 microRNA 429 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,138,362...156,138,444
Ensembl chr 4:156,138,362...156,138,444 		JBrowse link
G Mmel1 membrane metallo-endopeptidase-like 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,954,042...154,979,987
Ensembl chr 4:154,954,042...154,979,985 		JBrowse link
G Mmp23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,735,111...155,738,982
Ensembl chr 4:155,735,112...155,737,841 		JBrowse link
G Morn1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,167,771...155,229,964
Ensembl chr 4:155,171,034...155,229,962 		JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,887,335...155,893,288
Ensembl chr 4:155,887,335...155,894,432 		JBrowse link
G Mxra8 matrix-remodelling associated 8 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,924,137...155,928,559
Ensembl chr 4:155,924,137...155,928,545 		JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,646,838...155,675,458
Ensembl chr 4:155,646,835...155,675,458 		JBrowse link
G Noc2l NOC2 like nucleolar associated transcriptional repressor ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,319,112...156,332,078
Ensembl chr 4:156,320,376...156,332,073 		JBrowse link
G Pank4 pantothenate kinase 4 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,048,580...155,065,395
Ensembl chr 4:155,048,580...155,065,395 		JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,151,487...155,156,863
Ensembl chr 4:155,151,473...155,156,890 		JBrowse link
G Plch2 phospholipase C, eta 2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,067,572...155,148,548
Ensembl chr 4:155,067,572...155,141,241 		JBrowse link
G Plekhn1 pleckstrin homology domain containing, family N member 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,305,913...156,312,999
Ensembl chr 4:156,305,913...156,314,174 		JBrowse link
G Prdm16 PR domain containing 16 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,400,579...154,721,851
Ensembl chr 4:154,400,582...154,721,330 		JBrowse link
G Prkcz protein kinase C, zeta ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,344,579...155,445,856
Ensembl chr 4:155,344,586...155,445,818 		JBrowse link
G Prxl2b peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,980,884...154,983,522
Ensembl chr 4:154,979,961...154,983,592 		JBrowse link
G Pusl1 pseudouridylate synthase-like 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,973,314...155,976,231
Ensembl chr 4:155,972,336...155,976,238 		JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,158,566...155,170,840
Ensembl chr 4:155,158,567...155,170,839 		JBrowse link
G Rnf223 ring finger 223 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,214,972...156,217,874
Ensembl chr 4:156,214,970...156,217,877 		JBrowse link
G Samd11 sterile alpha motif domain containing 11 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,331,423...156,342,409
Ensembl chr 4:156,331,423...156,340,717 		JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,077,300...156,098,067
Ensembl chr 4:156,077,329...156,098,067 		JBrowse link
G Ski ski sarcoma viral oncogene homolog (avian) ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,238,532...155,307,536
Ensembl chr 4:155,238,532...155,307,049 		JBrowse link
G Slc35e2 solute carrier family 35, member E2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,685,873...155,707,797
Ensembl chr 4:155,685,873...155,707,797 		JBrowse link
G Smim1 small integral membrane protein 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,104,927...154,110,550
Ensembl chr 4:154,104,927...154,110,687 		JBrowse link
G Ssu72 Ssu72 RNA polymerase II CTD phosphatase homolog (yeast) ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,789,272...155,818,336
Ensembl chr 4:155,789,257...155,818,336 		JBrowse link
G Tas1r3 taste receptor, type 1, member 3 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,943,725...155,947,810
Ensembl chr 4:155,943,725...155,947,819 		JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,818,336...155,825,025
Ensembl chr 4:155,819,261...155,825,021 		JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,553,571...155,555,315
Ensembl chr 4:155,553,571...155,555,315 		JBrowse link
G Tmem88b transmembrane protein 88B ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,866,048...155,870,331
Ensembl chr 4:155,866,048...155,870,331 		JBrowse link
G Tnfrsf14 tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator) ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,002,944...155,013,077
Ensembl chr 4:155,006,390...155,013,020 		JBrowse link
G Tnfrsf18 tumor necrosis factor receptor superfamily, member 18 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,110,779...156,113,351
Ensembl chr 4:156,110,621...156,113,352 		JBrowse link
G Tnfrsf4 tumor necrosis factor receptor superfamily, member 4 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,098,049...156,101,070
Ensembl chr 4:156,098,300...156,101,069 		JBrowse link
G Tprg1l transformation related protein 63 regulated 1 like ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,241,942...154,246,763
Ensembl chr 4:154,241,942...154,245,123 		JBrowse link
G Trp73 transformation related protein 73 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,140,706...154,224,332
Ensembl chr 4:154,140,706...154,224,665 		JBrowse link
G Ttc34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,921,871...154,951,582
Ensembl chr 4:154,921,916...154,951,584 		JBrowse link
G Ttll10 tubulin tyrosine ligase-like family, member 10 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,119,292...156,135,274
Ensembl chr 4:156,119,297...156,143,871 		JBrowse link
G Ube2j2 ubiquitin-conjugating enzyme E2J 2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:156,028,270...156,044,061
Ensembl chr 4:156,028,288...156,044,061 		JBrowse link
G Vwa1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:155,852,952...155,859,042
Ensembl chr 4:155,852,606...155,859,155 		JBrowse link
G Wrap73 WD repeat containing, antisense to Trp73 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 4:154,226,811...154,241,278
Ensembl chr 4:154,226,829...154,251,877 		JBrowse link
immunodeficiency 69 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifng interferon gamma ISO ClinVar Annotator: match by term: Immunodeficiency 69 OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:32163377 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
Immunodeficiency 86 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sppl2a signal peptide peptidase like 2A ISO ClinVar Annotator: match by term: Immunodeficiency 86 OMIM
ClinVar		 PMID:23472171 PMID:30127434 NCBI chr 2:126,732,311...126,775,706
Ensembl chr 2:126,732,311...126,775,155 		JBrowse link
Immunodeficiency 88 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx21 T-box 21 ISO ClinVar Annotator: match by term: Immunodeficiency 88 ClinVar
OMIM		 PMID:25741868 NCBI chr11:96,988,833...97,006,157
Ensembl chr11:96,988,897...97,006,157 		JBrowse link
Latent Tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP-binding cassette, sub-family B member 1A ISO mRNA, protein:increased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human) RGD PMID:29602771 RGD:41404732 NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575 		JBrowse link
G Gpa33 glycoprotein A33 transmembrane ISO mRNA, protein:decreased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human) RGD PMID:29602771 RGD:41404732 NCBI chr 1:165,957,790...165,994,079
Ensembl chr 1:165,957,807...165,994,079 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO mRNA, protein:increased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human RGD PMID:29602771 RGD:41404732 NCBI chr 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382 		JBrowse link
lepromatous leprosy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement component 3 severity ISO protein:decreased expression:serum RGD PMID:6342123 RGD:7411735 NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136 		JBrowse link
G Cd163 CD163 antigen exacerbates ISO protein:increased expression:blood serum (human) RGD PMID:22851198 PMID:28355218 RGD:39939078, RGD:127345133 NCBI chr 6:124,281,596...124,307,488
Ensembl chr 6:124,281,615...124,307,486 		JBrowse link
G Cfb complement factor B severity ISO RGD PMID:6342123 RGD:7411735 NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494 		JBrowse link
G H2-Aa histocompatibility 2, class II antigen A, alpha susceptibility ISO DNA:polymorphisms: :HLA-DQA1*03, HLA-DQA1*05 (human) RGD PMID:19698125 RGD:5147788 NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797 		JBrowse link
G Il27 interleukin 27 ameliorates ISO mRNA:decreased expression:skin of body (human) RGD PMID:26030183 RGD:126790539 NCBI chr 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113 		JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 susceptibility ISO DNA:SNP:cds:161G>A (human) RGD PMID:20650301 RGD:8694069 NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087 		JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511 		JBrowse link
leprosy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Batf3 basic leucine zipper transcription factor, ATF-like 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25642632 NCBI chr 1:190,830,611...190,841,140
Ensembl chr 1:190,830,044...190,841,142 		JBrowse link
G Ccdc122 coiled-coil domain containing 122 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:25741868 NCBI chr14:77,274,212...77,349,703
Ensembl chr14:77,274,212...77,349,697 		JBrowse link
G Ccdc88b coiled-coil domain containing 88B ISO CTD Direct Evidence: marker/mechanism CTD PMID:25642632 NCBI chr19:6,821,991...6,835,586
Ensembl chr19:6,821,991...6,835,579 		JBrowse link
G Cd8a CD8 subunit alpha exacerbates ISO mRNA:increased expression:blood (human) RGD PMID:31784594 RGD:124715449 NCBI chr 6:71,350,411...71,356,155
Ensembl chr 6:71,350,411...71,356,157 		JBrowse link
G Cxcl15 C-X-C motif chemokine ligand 15 severity ISO DNA:SNP:promoter:g.-353T>A (rs4073) (human) RGD PMID:30303246 RGD:40400755 NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926 		JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility ISO DNA:polymorphisms (human) RGD PMID:20003324 PMID:19698125 RGD:5147585, RGD:5147788 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648 		JBrowse link
G Il10 interleukin 10 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:28492532 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Il17a interleukin 17A severity ISO mRNA:decreased expression:epidermis (human) RGD PMID:22641009 RGD:8698644 NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720 		JBrowse link
G Il19 interleukin 19 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:28492532 NCBI chr 1:130,860,393...130,873,194
Ensembl chr 1:130,860,393...130,867,852 		JBrowse link
G Il23r interleukin 23 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22019778 NCBI chr 6:67,399,906...67,468,838
Ensembl chr 6:67,399,916...67,468,839 		JBrowse link
G Lacc1 laccase domain containing 1 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:25741868 NCBI chr14:77,261,640...77,274,344
Ensembl chr14:77,261,640...77,274,344 		JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:26467025 PMID:28492532 NCBI chr15:91,556,994...91,700,327
Ensembl chr15:91,557,378...91,700,323 		JBrowse link
G Lta lymphotoxin A susceptibility ISO ClinVar Annotator: match by term: Leprosy, early-onset, susceptibility to
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:15052269 PMID:17353895 NCBI chr17:35,422,141...35,424,568
Ensembl chr17:35,422,141...35,424,327 		JBrowse link
G Mrc1 mannose receptor, C type 1 ISO ClinVar Annotator: match by term: Susceptibility to leprosy and multibacillary leprosy ClinVar PMID:20035344 NCBI chr 2:14,234,225...14,336,834
Ensembl chr 2:14,234,203...14,336,868 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO DNA:polymorphisms: :multiple (human)
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1		 ClinVar
RGD		 PMID:20350193 RGD:5508743 NCBI chr 8:89,373,943...89,415,103
Ensembl chr 8:89,373,943...89,415,102 		JBrowse link
G Parl presenilin associated, rhomboid-like ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr16:20,098,570...20,121,090
Ensembl chr16:20,098,568...20,121,137 		JBrowse link
G Pink1 PTEN induced putative kinase 1 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr 4:138,040,718...138,053,631
Ensembl chr 4:138,040,720...138,053,618 		JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: LPRS2 ClinVar PMID:10072423 PMID:11558785 PMID:11889248 PMID:12114481 PMID:12730996 More... NCBI chr17:11,059,227...12,282,257
Ensembl chr17:11,059,271...12,282,248 		JBrowse link
G Rab32 RAB32, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:22019778 NCBI chr10:10,420,783...10,433,951
Ensembl chr10:10,420,746...10,434,009 		JBrowse link
G Ripk2 receptor (TNFRSF)-interacting serine-threonine kinase 2 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr 4:16,122,740...16,163,674
Ensembl chr 4:16,122,733...16,163,647 		JBrowse link
G Slc11a1 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 susceptibility ISO DNA:repeat:promoter (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms, haplotype (human)		 CTD
RGD		 PMID:16597321 PMID:15755200 PMID:10608779 RGD:5684957, RGD:5684972 NCBI chr 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221 		JBrowse link
G Tlr1 toll-like receptor 1 susceptibility ISO DNA:snp:cds:p.I602S (human)
ClinVar Annotator: match by term: LPRS1 | ClinVar Annotator: match by term: Leprosy, susceptibility to, 5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:17475868 PMID:17548585 PMID:18461142 PMID:19456232 PMID:23105135 More... RGD:7246917 NCBI chr 5:65,082,023...65,090,945
Ensembl chr 5:65,082,022...65,090,906 		JBrowse link
G Tlr2 toll-like receptor 2 susceptibility ISO DNA:polymorphisms:microsatellite,597C>T(human)
ClinVar Annotator: match by term: Leprosy, susceptibility to, 3
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:11476982 PMID:12646604 PMID:15726416 PMID:19111445 PMID:25741868 More... RGD:8553055 NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074 		JBrowse link
G Tlr6 toll-like receptor 6 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr 5:65,109,373...65,128,387
Ensembl chr 5:65,109,374...65,117,440 		JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:SNP:promoter:−308G>A (human) RGD PMID:20650301 RGD:8694069 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Tnfsf15 tumor necrosis factor (ligand) superfamily, member 15 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr 4:63,642,837...63,663,296
Ensembl chr 4:63,642,840...63,663,350 		JBrowse link
G Tnfsf8 tumor necrosis factor (ligand) superfamily, member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25320285 NCBI chr 4:63,749,439...63,779,745
Ensembl chr 4:63,749,545...63,779,584 		JBrowse link
Meningeal Tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il4ra interleukin 4 receptor, alpha ISO protein:decreased expression:serum RGD PMID:21251883 RGD:5128510 NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646 		JBrowse link
G Tnf tumor necrosis factor IMP RGD PMID:10318940 RGD:10449456 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
Multibacillary Leprosy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ggt1 gamma-glutamyltransferase 1 ISO protein:increased activity:blood: RGD PMID:1680936 RGD:14747017 NCBI chr10:75,396,910...75,422,027
Ensembl chr10:75,397,438...75,422,034 		JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta ISO DNA:polymorphism (human) RGD PMID:20353806 RGD:5147577 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648 		JBrowse link
G Slc11a1 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 ISO DNA:insertion/deletion:3' utr (human) RGD PMID:11791966 RGD:5684970 NCBI chr 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221 		JBrowse link
multidrug-resistant tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxp3 forkhead box P3 ISO mRNA:increased expression:peripheral blood: RGD PMID:25483347 RGD:38456003 NCBI chr  X:7,445,915...7,461,482
Ensembl chr  X:7,439,883...7,461,484 		JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 ISO DNA:polymorphisms (human) RGD PMID:14522182 RGD:5147828 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta ISO DNA:polymorphism (human) RGD PMID:14522182 RGD:5147828 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648 		JBrowse link
Mycobacterium avium complex disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO associated with pulmonary diseases; protein:increased expression:serum RGD PMID:19641295 RGD:5686838 NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778 		JBrowse link
G Cxcl15 C-X-C motif chemokine ligand 15 ISO protein:increased expression:blood plasma, erythrocyte (human) RGD PMID:26300588 RGD:11250849 NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926 		JBrowse link
G Il17a interleukin 17A ISO RGD PMID:20797909 RGD:4888520 NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720 		JBrowse link
G Tnf tumor necrosis factor ISO associated with HIV Infections RGD PMID:7640175 RGD:10450731 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
Nontuberculous Mycobacterium Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cftr cystic fibrosis transmembrane conductance regulator susceptibility ISO DNA:mutations: :
DNA:SNP:cds:rs113857788(p.Q1352H)(human)		 RGD PMID:19858235 PMID:18703788 PMID:23514810 RGD:4140395, RGD:4140430, RGD:36049751 NCBI chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767 		JBrowse link
G Ifngr1 interferon gamma receptor 1 susceptibility ISO DNA:nonsense mutation
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:8960473 PMID:9389728 PMID:9536098 PMID:9806040 PMID:10192386 More... RGD:1624283 NCBI chr10:19,467,697...19,485,977
Ensembl chr10:19,467,697...19,485,977 		JBrowse link
G Il12b interleukin 12b susceptibility ISO disseminated BCG and Salmonella enteritidis infection, OMIM:209950
ClinVar Annotator: match by term: Familial Atypical Mycobacteriosis, Autosomal Recessive		 ClinVar
RGD		 PMID:9854038 RGD:1600042 NCBI chr11:44,290,890...44,305,504
Ensembl chr11:44,290,890...44,304,860 		JBrowse link
G Il18 interleukin 18 ISO RGD PMID:21045270 RGD:4889546 NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140 		JBrowse link
G Il1r1 interleukin 1 receptor, type I IMP RGD PMID:16797208 RGD:5037237 NCBI chr 1:40,261,651...40,355,361
Ensembl chr 1:40,264,240...40,356,417 		JBrowse link
G Il20ra interleukin 20 receptor, alpha ISO ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183 NCBI chr10:19,587,421...19,635,801
Ensembl chr10:19,588,318...19,635,801 		JBrowse link
G Il22ra2 interleukin 22 receptor, alpha 2 ISO ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183 NCBI chr10:19,497,776...19,510,429
Ensembl chr10:19,497,746...19,510,429 		JBrowse link
G Olig3 oligodendrocyte transcription factor 3 ISO ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183 NCBI chr10:19,232,287...19,234,352
Ensembl chr10:19,232,281...19,234,352 		JBrowse link
G Pex7 peroxisomal biogenesis factor 7 ISO ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183 NCBI chr10:19,735,836...19,783,420
Ensembl chr10:19,729,646...19,783,435 		JBrowse link
G Slc35d3 solute carrier family 35, member D3 ISO ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183 NCBI chr10:19,723,662...19,728,195
Ensembl chr10:19,723,662...19,727,205 		JBrowse link
G Stat1 signal transducer and activator of transcription 1 susceptibility ISO DNA:transition: ; 2116T>C
ClinVar Annotator: match by term: Familial Atypical Mycobacteriosis, Autosomal Dominant		 ClinVar
RGD		 PMID:11452125 RGD:1600087 NCBI chr 1:52,158,588...52,201,024
Ensembl chr 1:52,158,599...52,201,024 		JBrowse link
G Tnfaip3 tumor necrosis factor, alpha-induced protein 3 ISO ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183 NCBI chr10:18,876,658...18,891,158
Ensembl chr10:18,876,658...18,891,405 		JBrowse link
ocular tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il10 interleukin 10 ISO protein:increased expression:aqueous humor RGD PMID:22583692 RGD:7364832 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
Paratuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aoc3 amine oxidase, copper containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chr11:101,221,432...101,230,256
Ensembl chr11:101,221,431...101,232,764 		JBrowse link
G C1rb complement component 1, r subcomponent B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chr 6:124,547,389...124,558,003
Ensembl chr 6:124,547,253...124,558,130 		JBrowse link
G C3 complement component 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136 		JBrowse link
G F2 coagulation factor II ISO CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759 		JBrowse link
G Gsn gelsolin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chr 2:35,146,371...35,197,914
Ensembl chr 2:35,146,392...35,197,904 		JBrowse link
G Trf transferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chr 9:103,086,075...103,107,485
Ensembl chr 9:103,081,200...103,107,643 		JBrowse link
Paucibacillary Leprosy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ggt1 gamma-glutamyltransferase 1 ISO protein:increased activity:blood: RGD PMID:1680936 RGD:14747017 NCBI chr10:75,396,910...75,422,027
Ensembl chr10:75,397,438...75,422,034 		JBrowse link
pleural tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO protein:increased activity:pleural fluid:
protein:increased activity:serum:
protein:increased expression:serum:		 RGD PMID:21860532 PMID:1818842 PMID:1689629 PMID:18357489 RGD:152995280, RGD:152998934, RGD:152995292, RGD:152995288 NCBI chr 2:163,565,703...163,592,154
Ensembl chr 2:163,568,504...163,592,159 		JBrowse link
G Ccl22 C-C motif chemokine ligand 22 ISO RGD PMID:20337996 RGD:4891473 NCBI chr 8:95,472,312...95,478,016
Ensembl chr 8:95,472,218...95,478,327 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO RGD PMID:19159432 RGD:4145106 NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594 		JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO protein:increased expression:pleural fluid, natural killer cell (human) RGD PMID:19159432 RGD:4145106 NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736 		JBrowse link
G Foxp3 forkhead box P3 disease_progression ISO associated with human immunodeficiency virus infectious disease; RGD PMID:21303360 RGD:36947878 NCBI chr  X:7,445,915...7,461,482
Ensembl chr  X:7,439,883...7,461,484 		JBrowse link
G Il1b interleukin 1 beta ISO DNA:polymorphism: :3953T>C (human) RGD PMID:10377182 RGD:4143226 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO DNA:repeat (human) RGD PMID:10377182 RGD:4143226 NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506 		JBrowse link
G Il27 interleukin 27 exacerbates ISO associated with Pleural Effusion;protein:increased expression:pleural fluid (human)
protein:increased expression:alveolar system (human)		 RGD PMID:25753767 PMID:31819557 PMID:23962500 PMID:28844060 RGD:126790505, RGD:126790549, RGD:126790523, RGD:126790517 NCBI chr 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113 		JBrowse link
G Il33 interleukin 33 ISO protein:increased expression:pleural fluid: RGD PMID:23301222 RGD:39939042 NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:pleura: RGD PMID:18715875 RGD:5129700 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Tlr4 toll-like receptor 4 ISO RGD PMID:18295348 RGD:4144193 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521 		JBrowse link
G Tnc tenascin C ISO protein:increased expression:pleura RGD PMID:10950882 RGD:4889594 NCBI chr 4:63,878,022...63,965,554
Ensembl chr 4:63,878,022...63,965,252 		JBrowse link
pulmonary tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP-binding cassette, sub-family B member 1A treatment ISO DNA:SNP: :2677G>A (human) RGD PMID:26067842 RGD:11098541 NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575 		JBrowse link
G Ada adenosine deaminase ISO protein:increased expression:plasma, respiratory system fluid/secretion
protein:increased activity:sputum:
protein:increased activity:blood, pulmonary alveolar duct		 RGD PMID:12194640 PMID:19460251 PMID:2212911 RGD:5128854, RGD:152995271, RGD:152995390 NCBI chr 2:163,565,703...163,592,154
Ensembl chr 2:163,568,504...163,592,159 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:plasma RGD PMID:22022605 RGD:5686405 NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778 		JBrowse link
G Akt1 thymoma viral proto-oncogene 1 susceptibility ISO DNA:SNP,haplotype:intron: IVS3+18 C/C (human) RGD PMID:20141546 RGD:38676498 NCBI chr12:112,620,260...112,641,266
Ensembl chr12:112,620,255...112,641,318 		JBrowse link
G Alox5 arachidonate 5-lipoxygenase susceptibility ISO DNA:polymorphism, repeat:promoter, exon:g.760G>A (human) RGD PMID:18174194 RGD:4890411 NCBI chr 6:116,387,030...116,438,139
Ensembl chr 6:116,387,038...116,438,139 		JBrowse link
G Asap1 ArfGAP with SH3 domain, ankyrin repeat and PH domain1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25774636 NCBI chr15:63,958,704...64,254,922
Ensembl chr15:63,958,706...64,254,768 		JBrowse link
G Atf3 activating transcription factor 3 ISO mRNA,protein:increased expression:lung RGD PMID:20856677 RGD:34888225 NCBI chr 1:190,902,493...190,915,530
Ensembl chr 1:190,902,493...190,950,236 		JBrowse link
G C3 complement component 3 ISO RGD PMID:19472039 RGD:5129500 NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136 		JBrowse link
G Ccl1 C-C motif chemokine ligand 1 susceptibility ISO
IEP		 DNA:SNP: :multiple (human)
mRNA:increased expression:lung, dendritic cell		 RGD PMID:19057661 PMID:18703681 RGD:4891408, RGD:4891409 NCBI chr11:82,067,492...82,070,638
Ensembl chr11:82,067,483...82,196,516 		JBrowse link
G Ccl19 C-C motif chemokine ligand 19 IEP mRNA:increased expression:lung RGD PMID:19933855 RGD:5130906 NCBI chr 4:42,754,525...42,756,558
Ensembl chr 4:42,754,525...42,756,577 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 susceptibility ISO DNA:polymorphism: :-2518A>G (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16352737 PMID:18940815 PMID:20111728 RGD:4891439 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
G Ccl5 C-C motif chemokine ligand 5 susceptibility ISO DNA:snps:5' utr:g.-403G>A rs2280788, g.-28C>G rs2107538 (human)
mRNA:increased expression:lung (human)		 RGD PMID:19335954 PMID:15128813 RGD:4891879, RGD:4892112 NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 disease_progression IMP RGD PMID:11438742 RGD:734715 NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594 		JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO protein:decreased expression:blood, T cell (human) RGD PMID:16379602 RGD:4892094 NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736 		JBrowse link
G Cd14 CD14 antigen susceptibility ISO DNA:polymorphism:promoter:c. -159C>T (human)|protein:increased expression:monocyte, serum RGD PMID:18008256 PMID:18008256 RGD:4144205, RGD:4144205 NCBI chr18:36,858,117...36,859,868
Ensembl chr18:36,858,120...36,859,851 		JBrowse link
G Cd163 CD163 antigen exacerbates ISO protein:increased expression:blood plasma, CD14-positive monocyte (human)
protein:increased expression:blood serum (human)		 RGD PMID:27685837 PMID:27684274 RGD:127285801, RGD:127345136 NCBI chr 6:124,281,596...124,307,488
Ensembl chr 6:124,281,615...124,307,486 		JBrowse link
G Cd1d1 CD1d1 antigen susceptibility ISO DNA:SNPS, haplotype:intron, enhancer: (rs859009,rs859010, rs973742) (human) RGD PMID:30972222 RGD:127345096 NCBI chr 3:86,903,141...86,919,665
Ensembl chr 3:86,903,141...86,906,748 		JBrowse link
G Cd209b CD209b antigen susceptibility IMP
ISO		 DNA:repeats:exon 4: allele 4, allele 5, allele 9 (human) RGD PMID:19770268 PMID:24874302 PMID:17224292 RGD:39938983, RGD:39938981, RGD:39938987 NCBI chr 8:3,967,655...3,976,841
Ensembl chr 8:3,967,655...3,976,844 		JBrowse link
G Cd209d CD209d antigen susceptibility ISO associated with HIV Seropositivity; DNA:SNP:promoter: -336A>G (rs4804803) (human) RGD PMID:19126442 RGD:39939062 NCBI chr 8:3,921,824...3,928,548
Ensembl chr 8:3,921,824...3,928,555 		JBrowse link
G Cd274 CD274 antigen ISO protein:increased expression:Tcell, B cell, monocyte RGD PMID:23661793 RGD:40818418 NCBI chr19:29,339,428...29,365,495
Ensembl chr19:29,344,855...29,365,495 		JBrowse link
G Cd36 CD36 molecule susceptibility ISO DNA:SNPs: :rs1194182, rs10499859(human) RGD PMID:28693442 RGD:41412192 NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799 		JBrowse link
G Cd86 CD86 antigen ISO protein:decreased expression:sputum, macrophage (human) RGD PMID:17713660 RGD:4892339 NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443 		JBrowse link
G Crp C-reactive protein, pentraxin-related severity ISO associated with HIV Infections RGD PMID:21219690 PMID:21197091 RGD:5131284, RGD:5131287 NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 treatment ISO RGD PMID:29843631 RGD:27095956 NCBI chr 5:92,494,497...92,496,748
Ensembl chr 5:92,494,497...92,496,748 		JBrowse link
G Cxcl15 C-X-C motif chemokine ligand 15 exacerbates ISO protein:increased expression:serum (human)
RNA:increased expression:blood plasma (human)		 RGD PMID:16001981 PMID:27434276 RGD:150523784 RGD:39939055 NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926 		JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 disease_progression IEP RGD PMID:20454613 RGD:5135037 NCBI chr 5:91,051,758...91,053,797
Ensembl chr 5:91,051,730...91,053,797 		JBrowse link
G Cxcl5 C-X-C motif chemokine ligand 5 susceptibility IEP mRNA:increased expression:lung RGD PMID:16790804 RGD:5135246 NCBI chr 5:90,907,157...90,909,484
Ensembl chr 5:90,907,219...90,909,483 		JBrowse link
G Cyba cytochrome b-245, alpha polypeptide no_association ISO DNA:SNPs:exons:214C>T (rs4673), 521C>T (rs17845095) (human) RGD PMID:16608528 RGD:4780358 NCBI chr 8:123,151,510...123,159,679
Ensembl chr 8:123,151,515...123,159,669 		JBrowse link
G Ddit3 DNA-damage inducible transcript 3 ISO mRNA,protein:increased expression:lung RGD PMID:20856677 RGD:34888225 NCBI chr10:127,126,662...127,132,160
Ensembl chr10:127,126,643...127,132,157
Ensembl chr10:127,126,643...127,132,157 		JBrowse link
G Egfr epidermal growth factor receptor disease_progression ISO associated with lung adenocarcinoma; RGD PMID:29621876 PMID:22173705 RGD:38599162, RGD:38599176 NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158 		JBrowse link
G Ereg epiregulin susceptibility ISO DNA:SNP:exon 4: (rs2367707) (human) RGD PMID:30634928 RGD:39457687 NCBI chr 5:91,222,476...91,241,508
Ensembl chr 5:91,222,481...91,241,505 		JBrowse link
G Foxp3 forkhead box P3 susceptibility ISO DNA:polymorphism:promoter:-924A>G(human) RGD PMID:29020928 RGD:38501101 NCBI chr  X:7,445,915...7,461,482
Ensembl chr  X:7,439,883...7,461,484 		JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO DNA:SNP:intron:rs2307058 (human) RGD PMID:28355295 RGD:18337291 NCBI chr16:70,110,837...70,366,608
Ensembl chr16:70,110,837...70,366,604 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 susceptibility ISO associated with GSTT1 null deletion; DNA:deletion: : RGD PMID:20297661 RGD:4140932 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Gstt1 glutathione S-transferase, theta 1 susceptibility ISO DNA:deletion: : RGD PMID:20297661 RGD:4140932 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 disease_progression
susceptibility		 ISO DNA:polymorphisms (human)
DNA:polymorphism: :HLA-DQB1*3:03(human)
DNA:polymorphism:cds:HLA-DQB1*0201(human)		 RGD PMID:19230186 PMID:28612994 PMID:24024195 RGD:5147614, RGD:36049765, RGD:36049753 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility ISO DNA:polymorphism:cds:HLA-DRB1*0201(human)
DNA:polymorphism: :HLA-DRB1*09:01(human)		 RGD PMID:24024195 PMID:28612994 RGD:36049753, RGD:36049765 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648 		JBrowse link
G Havcr2 hepatitis A virus cellular receptor 2 ISO RGD PMID:21382414 RGD:5135524 NCBI chr11:46,345,758...46,372,082
Ensembl chr11:46,345,762...46,372,082 		JBrowse link
G Ido1 indoleamine 2,3-dioxygenase 1 treatment ISO RGD PMID:32369456 RGD:39939073 NCBI chr 8:25,074,148...25,086,987
Ensembl chr 8:25,074,152...25,087,025 		JBrowse link
G Il13 interleukin 13 ISO mRNA:increased expression:Leukocytes, Mononuclear RGD PMID:10608794 RGD:4145649 NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529 		JBrowse link
G Il15 interleukin 15 ISO mRNA, protein:increased expression:lung RGD PMID:11742275 RGD:4990461 NCBI chr 8:83,058,253...83,129,883
Ensembl chr 8:83,058,261...83,129,851 		JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:serum RGD PMID:15955140 RGD:4889836 NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140 		JBrowse link
G Il1a interleukin 1 alpha IEP RGD PMID:9176116 RGD:4142835 NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892 		JBrowse link
G Il1b interleukin 1 beta severity
susceptibility		 ISO protein:increased expression:lung
DNA:polymorphism: :3953T>C (human)
protein:increased expression:bronchioalveolar lavage fluid (human)		 RGD PMID:10543265 PMID:16634865 PMID:10631206 RGD:4143180, RGD:5147843, RGD:4143179 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 IMP RGD PMID:28128217 RGD:39938965 NCBI chr 1:40,444,105...40,504,575
Ensembl chr 1:40,468,730...40,504,575 		JBrowse link
G Il1rn interleukin 1 receptor antagonist severity ISO protein:increased expression:lung, serum RGD PMID:10543265 PMID:14619382 PMID:10631206 RGD:4143180, RGD:4143174, RGD:4143179 NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506 		JBrowse link
G Il23a interleukin 23, alpha subunit p19 IMP
IEP		 mRNA:increased expression:lung (mouse) RGD PMID:16002675 PMID:21156751 PMID:20624887 PMID:11801672 RGD:39457949, RGD:39458038, RGD:39458036, RGD:39457953 NCBI chr10:128,132,009...128,133,953
Ensembl chr10:128,132,008...128,134,621 		JBrowse link
G Il27 interleukin 27 exacerbates ISO DNA:SNPs:promoter, exon:-964A>G, 2905T>G (human)
DNA:SNPs:promoter,exons:-964A>G, 2905T>G, 4730T>C (rs153109, rs17855750, rs181206) (human)		 RGD PMID:31949807 PMID:30948177 RGD:126790508, RGD:39456132 NCBI chr 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113 		JBrowse link
G Il27ra interleukin 27 receptor, alpha IMP RGD PMID:15749890 RGD:5128486 NCBI chr 8:84,756,915...84,769,250
Ensembl chr 8:84,756,923...84,769,218 		JBrowse link
G Il33 interleukin 33 IDA RGD PMID:28128217 RGD:39938965 NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118 		JBrowse link
G Il4 interleukin 4 severity IEP RGD PMID:20832364 RGD:5128550 NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496 		JBrowse link
G Il4ra interleukin 4 receptor, alpha ISO protein:decreased expression:serum RGD PMID:21251883 RGD:5128510 NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646 		JBrowse link
G Il6 interleukin 6 ISO RGD PMID:20624776 RGD:4143257 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Il6ra interleukin 6 receptor, alpha ISO protein:decreased expression:T cell RGD PMID:20019339 RGD:5128632 NCBI chr 3:89,776,631...89,820,503
Ensembl chr 3:89,771,366...89,820,503 		JBrowse link
G Irf1 interferon regulatory factor 1 IMP RGD PMID:11083808 RGD:5128719 NCBI chr11:53,660,841...53,669,200
Ensembl chr11:53,660,841...53,669,200 		JBrowse link
G Itih4 inter alpha-trypsin inhibitor, heavy chain 4 ISO protein:increased expression:urine RGD PMID:29636444 RGD:40903003 NCBI chr14:30,608,433...30,623,943
Ensembl chr14:30,608,433...30,624,310 		JBrowse link
G Jun jun proto-oncogene ISO protein:decreased phosphorylation:macrophage, nucleus RGD PMID:19737230 RGD:4889999 NCBI chr 4:94,937,273...94,940,459
Ensembl chr 4:94,937,271...94,940,459 		JBrowse link
G Lcn2 lipocalin 2 exacerbates
disease_progression		 IMP RGD PMID:19050270 PMID:30534124 RGD:126779558, RGD:126779565 NCBI chr 2:32,274,649...32,277,751
Ensembl chr 2:32,274,645...32,278,264 		JBrowse link
G Lta lymphotoxin A susceptibility ISO DNA:polymorphism:intron:252G>A (human) RGD PMID:20180006 RGD:4143234 NCBI chr17:35,422,141...35,424,568
Ensembl chr17:35,422,141...35,424,327 		JBrowse link
G Marco macrophage receptor with collagenous structure susceptibility ISO DNA:SNP: :rs12998782(human)
DNA:SNPs:introns:rs4491733,rs12998782,rs13389814,rs7559955 (human)
DNA:SNPs: :rs2278589, rs6751745,rs6748401 (human)		 RGD PMID:28693442 PMID:23617307 PMID:27853145 RGD:41412192, RGD:41412195, RGD:41412194 NCBI chr 1:120,402,267...120,432,753
Ensembl chr 1:120,402,267...120,432,753 		JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 ISO DNA:polymorphisms:5' utr, exon:multiple (human) RGD PMID:19199550 RGD:4889452 NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087 		JBrowse link
G Mif macrophage migration inhibitory factor (glycosylation-inhibiting factor) susceptibility ISO DNA:SNP: :rs755622 (human) RGD PMID:20439102 RGD:4891004 NCBI chr10:75,695,187...75,696,111
Ensembl chr10:75,695,187...75,696,074 		JBrowse link
G Mir30a microRNA 30a disease_progression ISO RGD PMID:25866116 RGD:35668864 NCBI chr 1:23,311,350...23,311,420
Ensembl chr 1:23,311,350...23,311,420 		JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24890593 NCBI chr 9:7,445,845...7,455,975
Ensembl chr 9:7,445,822...7,455,975 		JBrowse link
G Mmp7 matrix metallopeptidase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24890593 NCBI chr 9:7,692,095...7,699,587
Ensembl chr 9:7,692,091...7,699,587 		JBrowse link
G Mmp8 matrix metallopeptidase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24890593 NCBI chr 9:7,558,430...7,568,487
Ensembl chr 9:7,558,457...7,568,486 		JBrowse link
G Mmp9 matrix metallopeptidase 9 IMP RGD PMID:16982845 RGD:5130746 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Nat2 N-acetyltransferase 2 (arylamine N-acetyltransferase) susceptibility ISO RGD PMID:20297661 RGD:4140932 NCBI chr 8:67,947,527...67,955,296
Ensembl chr 8:67,947,510...67,955,236 		JBrowse link
G Nfkbia nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:9379002 RGD:126908014 NCBI chr12:55,536,194...55,539,432
Ensembl chr12:55,536,195...55,539,432 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 susceptibility ISO DNA:SNPs:CDs:p.P268S, R702W, A725G (human) RGD PMID:18419343 RGD:5131510 NCBI chr 8:89,373,943...89,415,103
Ensembl chr 8:89,373,943...89,415,102 		JBrowse link
G Nos2 nitric oxide synthase 2, inducible ISO DNA:SNPs:multiple (human) RGD PMID:19575238 RGD:4144122 NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080 		JBrowse link
G Pdcd1 programmed cell death 1 treatment ISO protein:increased expression:Tcell, B cell, monocyte RGD PMID:23661793 PMID:23661793 RGD:40818418, RGD:40818418 NCBI chr 1:93,966,027...93,980,278
Ensembl chr 1:93,966,027...93,980,278 		JBrowse link
G Pdcd1lg2 programmed cell death 1 ligand 2 ISO protein:increased expression:Tcell, B cell, monocyte RGD PMID:23661793 RGD:40818418 NCBI chr19:29,388,319...29,450,327
Ensembl chr19:29,388,319...29,448,561 		JBrowse link
G Plaur plasminogen activator, urokinase receptor severity ISO RGD PMID:18359089 RGD:6483832 NCBI chr 7:24,161,857...24,175,393
Ensembl chr 7:24,161,909...24,175,393 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) ISO DNA:SNPs:cds:788G>A, 1858C>T (human) RGD PMID:19563523 RGD:6484723 NCBI chr 3:103,763,891...103,819,568
Ensembl chr 3:103,767,111...103,819,563 		JBrowse link
G Sftpa1 surfactant associated protein A1 susceptibility ISO DNA:SNPs:exons:307G>A, 776C>T (human)
DNA:SNP:intron:1416C>T (human)		 RGD PMID:16292672 PMID:12476938 RGD:4144874, RGD:4144875 NCBI chr14:40,853,745...40,858,330
Ensembl chr14:40,853,739...40,858,409 		JBrowse link
G Slc11a1 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 susceptibility ISO DNA:polymorphism:intron (human)
DNA:deletion:3'UTR:		 RGD PMID:21169917 PMID:24024195 RGD:5684974, RGD:36049753 NCBI chr 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221 		JBrowse link
G Tap1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) ISO associated with HIV Infections; RGD PMID:21843574 RGD:6482248 NCBI chr17:34,406,530...34,416,199
Ensembl chr17:34,406,527...34,416,199 		JBrowse link
G Tap2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) susceptibility ISO DNA:polymorphism: : RGD PMID:9062973 RGD:5147851 NCBI chr17:34,423,453...34,435,295
Ensembl chr17:34,422,501...34,435,295 		JBrowse link
G Tlr1 toll-like receptor 1 ISO mRNA:increased expression:blood RGD PMID:16493059 RGD:4889525 NCBI chr 5:65,082,023...65,090,945
Ensembl chr 5:65,082,022...65,090,906 		JBrowse link
G Tlr2 toll-like receptor 2 susceptibility ISO DNA:polymorphism:intron (human)
DNA:polymorphisms: :multiple (human)
DNA:SNP: :rs1816702 (human)
mRNA, protein:increased expression:blood, T cell		 RGD PMID:20298136 PMID:20113509 PMID:19723394 PMID:19552525 RGD:4145304, RGD:4145320, RGD:4145323, RGD:4145355 NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074 		JBrowse link
G Tlr4 toll-like receptor 4 severity
susceptibility		 ISO DNA:polymorphisms:cds: p. D299F, T399I (human)
DNA:SNP:intron: rs5030729 (human)
protein:increased expression:monocyte		 RGD PMID:20403143 PMID:19575238 PMID:18008256 RGD:4144106, RGD:4144122, RGD:4144205 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521 		JBrowse link
G Tlr9 toll-like receptor 9 ISO DNA:snps:multiple (human) RGD PMID:19771452 RGD:5130704 NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082 		JBrowse link
G Tnf tumor necrosis factor susceptibility
disease_progression		 ISO
IEP		 DNA:polymorphisms::c.-857 C>T, c. -863 A>C (human) RGD PMID:20650298 PMID:18212516 PMID:9176116 RGD:4143388, RGD:4143395, RGD:4142835 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Trem1 triggering receptor expressed on myeloid cells 1 disease_progression ISO RGD PMID:29844416 RGD:126925977 NCBI chr17:48,539,763...48,553,955
Ensembl chr17:48,539,796...48,553,952 		JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor susceptibility ISO DNA:SNP (human)
DNA:SNPs:5' UTR (human)
DNA:SNPs:promoter, 3' UTR (human)
DNA:SNPs (human)		 RGD PMID:17236578 PMID:20231985 PMID:18397302 PMID:18231846 PMID:15295697 RGD:4889849, RGD:4889830, RGD:4889842, RGD:4889845, RGD:4889853 NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511 		JBrowse link
renal tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il4ra interleukin 4 receptor, alpha ISO protein:decreased expression:serum
DNA:polymorphism:cds:p.I50V (human)		 RGD PMID:21251883 PMID:19548368 RGD:5128510, RGD:7207069 NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646 		JBrowse link
Silicotuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sting1 stimulator of interferon response cGAMP interactor 1 severity IMP RGD PMID:31141689 RGD:39128194 NCBI chr18:35,866,731...35,873,607
Ensembl chr18:35,866,732...35,873,607 		JBrowse link
Spinal Tuberculoses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H2-Aa histocompatibility 2, class II antigen A, alpha susceptibility ISO DNA:missense mutation:CDS:c.592C>G (p.Q198E) (human) RGD PMID:29795056 RGD:126928140 NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797 		JBrowse link
tuberculoid leprosy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tap2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) susceptibility ISO DNA:polymorphism: : RGD PMID:9062973 RGD:5147851 NCBI chr17:34,423,453...34,435,295
Ensembl chr17:34,422,501...34,435,295 		JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511 		JBrowse link
tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end product-specific receptor severity IEP RGD PMID:22698798 RGD:6767307 NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910 		JBrowse link
G Btnl2 butyrophilin-like 2 susceptibility
no_association		 ISO DNA:SNPs,haplotypes: : rs3763313, rs9268494, rs9268492(human) RGD PMID:20176143 PMID:17347014 RGD:9685035, RGD:9685036 NCBI chr17:34,573,763...34,588,466
Ensembl chr17:34,573,796...34,588,469 		JBrowse link
G Cbs cystathionine beta-synthase severity IMP
IEP		 protein:increased expression:macrophages (mouse) RGD PMID:31992699 PMID:31992699 RGD:40903052, RGD:40903052 NCBI chr17:31,831,602...31,856,170
Ensembl chr17:31,827,868...31,856,212 		JBrowse link
G Ccl1 C-C motif chemokine ligand 1 susceptibility ISO DNA:SNP: :rs159294, rs210837, rs10491110 (human) RGD PMID:19057661 RGD:4891408 NCBI chr11:82,067,492...82,070,638
Ensembl chr11:82,067,483...82,196,516 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to ClinVar PMID:11500196 PMID:15466648 PMID:16352737 PMID:16596675 PMID:18940815 More... NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
G Ccl4 C-C motif chemokine ligand 4 severity HEP associated with human immunodeficiency virus infectious disease;protein:increased expression:blood plasma (human) RGD PMID:31276515 RGD:41404639 NCBI chr11:83,553,410...83,555,509
Ensembl chr11:83,553,410...83,555,509 		JBrowse link
G Cd209a CD209a antigen ISO RGD PMID:21454357 PMID:18167547 RGD:5131181, RGD:5131186 NCBI chr 8:3,793,395...3,798,984
Ensembl chr 8:3,793,397...3,798,984 		JBrowse link
G Cd274 CD274 antigen ISO mRNA, protein:increased expression:blood, neutrophil RGD PMID:21509782 RGD:41412173 NCBI chr19:29,339,428...29,365,495
Ensembl chr19:29,344,855...29,365,495 		JBrowse link
G Cd86 CD86 antigen IEP protein:increased expression:lung (mouse) RGD PMID:18292558 RGD:4892329 NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443 		JBrowse link
G Cd8a CD8 subunit alpha susceptibility ISO mRNA:decreased expression:blood (human)
associated with human immunodeficiency virus infectious disease;mRNA:increased expression:whole blood (human)		 RGD PMID:26725873 PMID:27553407 RGD:124715445 RGD:124715450 NCBI chr 6:71,350,411...71,356,155
Ensembl chr 6:71,350,411...71,356,157 		JBrowse link
G Cebpb CCAAT/enhancer binding protein beta IEP mRNA:increased expression:lung, spleen (mouse) RGD PMID:28558034 RGD:40903038 NCBI chr 2:167,530,835...167,532,352
Ensembl chr 2:167,530,835...167,532,338 		JBrowse link
G Ciita class II transactivator susceptibility IMP knockouts show increased susceptibility to infection by all available criteria including mycobacterial growth, lung damage and survival time RGD PMID:12828554 RGD:5491205 NCBI chr16:10,297,877...10,348,928
Ensembl chr16:10,297,923...10,346,282 		JBrowse link
G Cish cytokine inducible SH2-containing protein susceptibility ISO ClinVar Annotator: match by term: Tuberculosis, susceptibility to ClinVar
OMIM		 PMID:20484391 NCBI chr 9:107,173,858...107,179,983
Ensembl chr 9:107,173,225...107,179,983 		JBrowse link
G Coro1a coronin, actin binding protein 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16040207 NCBI chr 7:126,298,946...126,303,925
Ensembl chr 7:126,298,945...126,306,959 		JBrowse link
G Cxcl15 C-X-C motif chemokine ligand 15 susceptibility ISO DNA:SNP:promoter:-251A>T (human)
protein:increased expression:blood plasma, erythrocyte (human)		 RGD PMID:32393145 PMID:26300588 RGD:150520198, RGD:11250849 NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926 		JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO protein:increased expression:serum RGD PMID:19281538 RGD:5135308 NCBI chr 5:92,469,190...92,475,938
Ensembl chr 5:92,469,206...92,475,938 		JBrowse link
G Cyp2b10 cytochrome P450, family 2, subfamily b, polypeptide 10 treatment ISO associated with human immunodeficiency virus infectious disease; ;DNA:SNP: :516G>T (rs3745274)(human) RGD PMID:30239753 RGD:41412160 NCBI chr 7:25,597,083...25,626,049
Ensembl chr 7:25,597,045...25,626,049 		JBrowse link
G Cyp2b9 cytochrome P450, family 2, subfamily b, polypeptide 9 treatment ISO DNA:SNPs: :c.516G>T (rs3745274) and c.785A>G (rs2279343)(human) RGD PMID:28389387 RGD:41410886 NCBI chr 7:25,872,775...25,910,086
Ensembl chr 7:25,872,836...25,910,086 		JBrowse link
G Cyp2c38 cytochrome P450, family 2, subfamily c, polypeptide 38 treatment ISO DNA:polymorphisms:: CYP2C19*17(rs12248560),CYP2C19*2 (c.681C>A; rs4244285)(human) RGD PMID:27393733 RGD:124713542 NCBI chr19:39,379,109...39,451,519
Ensembl chr19:39,378,000...39,451,519 		JBrowse link
G Ereg epiregulin susceptibility ISO DNA:SNP:intron: (rs7675690) (human) RGD PMID:22170233 RGD:39457686 NCBI chr 5:91,222,476...91,241,508
Ensembl chr 5:91,222,481...91,241,505 		JBrowse link
G H2-Aa histocompatibility 2, class II antigen A, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26829749 NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797 		JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 susceptibility ISO associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-DQB1*05 RGD PMID:19030725 RGD:36049809 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility ISO DNA:polymorphism (human)
associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-BRB1*10		 RGD PMID:21251479 PMID:19030725 PMID:17153701 RGD:5147605, RGD:36049809, RGD:5147633 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648 		JBrowse link
G H2-M2 histocompatibility 2, M region locus 2 susceptibility ISO associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-B41 RGD PMID:19030725 RGD:36049809 NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443 		JBrowse link
G H2-Q1 histocompatibility 2, Q region locus 1 susceptibility ISO associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-A31 RGD PMID:19030725 RGD:36049809 NCBI chr17:35,539,503...35,547,118
Ensembl chr17:35,539,381...35,544,075 		JBrowse link
G Has1 hyaluronan synthase 1 IEP RGD PMID:19876387 RGD:9588638 NCBI chr17:18,063,588...18,075,450
Ensembl chr17:18,063,585...18,075,467 		JBrowse link
G Hp haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804 		JBrowse link
G Ifng interferon gamma ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, protection against ClinVar
OMIM		 PMID:10663562 PMID:11053629 PMID:12788577 PMID:18414898 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Ifngr1 interferon gamma receptor 1 susceptibility ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, protection against | ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to OMIM
ClinVar
RGD		 PMID:9389728 PMID:10192386 PMID:11583830 PMID:12516030 PMID:16195661 More... RGD:4144122 NCBI chr10:19,467,697...19,485,977
Ensembl chr10:19,467,697...19,485,977 		JBrowse link
G Il12rb1 interleukin 12 receptor, beta 1 ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to ClinVar PMID:9603733 PMID:12591909 PMID:28492532 NCBI chr 8:71,261,005...71,276,186
Ensembl chr 8:71,261,093...71,274,068 		JBrowse link
G Il15 interleukin 15 IEP mRNA:altered expression:lung, spleen RGD PMID:16367949 RGD:4987456 NCBI chr 8:83,058,253...83,129,883
Ensembl chr 8:83,058,261...83,129,851 		JBrowse link
G Il22 interleukin 22 ISO RGD PMID:21767990 RGD:5147402 NCBI chr10:118,040,456...118,045,952
Ensembl chr10:118,040,847...118,045,952 		JBrowse link
G Il22b interleukin 22B ISO RGD PMID:21767990 RGD:5147402 NCBI chr10:118,125,534...118,130,943
Ensembl chr10:118,125,534...118,130,943 		JBrowse link
G Il27 interleukin 27 exacerbates ISO associated with Pleural Effusion;protein:increased expression:pleural effusion (human)
mRNA:increased expression:blood (human)		 RGD PMID:26282876 PMID:25511588 RGD:11086047, RGD:126790514 NCBI chr 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113 		JBrowse link
G Il33 interleukin 33 ISO associated with Pleural Effusion;protein:increased expression:pleural biopsy RGD PMID:25755791 RGD:40400701 NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118 		JBrowse link
G Irak3 interleukin-1 receptor-associated kinase 3 ISO mRNA, protein:increased expression:sputum (human) RGD PMID:19535630 RGD:36049800 NCBI chr10:119,977,553...120,038,035
Ensembl chr10:119,977,553...120,038,035 		JBrowse link
G Irgm1 immunity-related GTPase family M member 1 ISO OMIM NCBI chr11:48,756,072...48,762,247
Ensembl chr11:48,752,795...48,762,510 		JBrowse link
G Kir3dl1 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 susceptibility ISO DNA:deletion:cds RGD PMID:23073291 RGD:38676470 NCBI chr  X:135,418,748...135,435,055
Ensembl chr  X:135,418,748...135,435,058 		JBrowse link
G Klrk1 killer cell lectin-like receptor subfamily K, member 1 treatment IMP
ISO		 RGD PMID:16619285 PMID:23922903 RGD:39018558, RGD:39128143 NCBI chr 6:129,587,286...129,600,863
Ensembl chr 6:129,587,286...129,600,827 		JBrowse link
G Mapkapk3 mitogen-activated protein kinase-activated protein kinase 3 ISO ClinVar Annotator: match by term: Tuberculosis, susceptibility to ClinVar PMID:20484391 NCBI chr 9:107,132,125...107,167,082
Ensembl chr 9:107,132,126...107,167,076 		JBrowse link
G Nfe2l2 nuclear factor, erythroid derived 2, like 2 treatment ISO DNA:SNPs,haplotype: :rs4243387,rs2001350,rs6726395(human) RGD PMID:31586142 RGD:42722614 NCBI chr 2:75,505,860...75,535,007
Ensembl chr 2:75,505,857...75,534,985 		JBrowse link
G Nrg1 neuregulin 1 susceptibility ISO DNA:SNP, haplotype: (rs16879814) RGD PMID:25919455 RGD:39456091 NCBI chr 8:32,299,493...33,381,858
Ensembl chr 8:32,304,579...33,374,825
Ensembl chr 8:32,304,579...33,374,825 		JBrowse link
G Pdcd1 programmed cell death 1 treatment ISO RGD PMID:27865385 RGD:41412174 NCBI chr 1:93,966,027...93,980,278
Ensembl chr 1:93,966,027...93,980,278 		JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma IMP RGD PMID:30514491 RGD:38599199 NCBI chr12:32,223,128...32,258,675
Ensembl chr12:32,223,472...32,258,658 		JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 exacerbates IMP RGD PMID:29892302 RGD:127229926 NCBI chr14:56,022,452...56,026,314
Ensembl chr14:56,022,452...56,026,322 		JBrowse link
G Slc11a1 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 susceptibility ISO DNA:insertion, polymorphism:3' utr:p.D543N (human)
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to | ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to infection by
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD
RGD		 PMID:16103355 PMID:16597321 PMID:25741868 PMID:19863441 PMID:15118671 RGD:5684931, RGD:1331525 NCBI chr 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221 		JBrowse link
G Sp110 Sp110 nuclear body protein susceptibility ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to ClinVar
OMIM		 PMID:16803959 PMID:16816019 PMID:17149599 PMID:24033266 PMID:25741868 More... NCBI chr 1:85,498,462...85,538,571
Ensembl chr 1:85,504,620...85,526,538 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:15863395 RGD:1581371 NCBI chr 5:104,582,977...104,588,919
Ensembl chr 5:104,582,984...104,588,916 		JBrowse link
G Sting1 stimulator of interferon response cGAMP interactor 1 IMP RGD PMID:29791904 RGD:39128196 NCBI chr18:35,866,731...35,873,607
Ensembl chr18:35,866,732...35,873,607 		JBrowse link
G Tirap toll-interleukin 1 receptor (TIR) domain-containing adaptor protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to		 CTD
OMIM
ClinVar		 PMID:16991088 PMID:17322885 PMID:18305471 PMID:25741868 NCBI chr 9:35,095,687...35,111,587
Ensembl chr 9:35,095,847...35,111,587 		JBrowse link
G Tlr1 toll-like receptor 1 susceptibility ISO DNA:snps, haplotype:cds:p.N248S, p.S602I (human) RGD PMID:18091991 RGD:7246918 NCBI chr 5:65,082,023...65,090,945
Ensembl chr 5:65,082,022...65,090,906 		JBrowse link
G Tlr2 toll-like receptor 2 susceptibility ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to OMIM
ClinVar		 PMID:14979495 PMID:16081826 PMID:22992740 PMID:25741868 PMID:28492532 NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074 		JBrowse link
G Tlr4 toll-like receptor 4 IMP RGD PMID:12218133 RGD:4144821 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521 		JBrowse link
G Tlr6 toll-like receptor 6 susceptibility ISO DNA:missense mutations:cds:multiple (human) RGD PMID:18091991 RGD:7246918 NCBI chr 5:65,109,373...65,128,387
Ensembl chr 5:65,109,374...65,117,440 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum RGD PMID:20537163 RGD:4143229 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Tnfrsf1b tumor necrosis factor receptor superfamily, member 1b ISO DNA:snp:3' utr:g.*215C>T rs3397 (human) RGD PMID:20007930 RGD:5131209 NCBI chr 4:144,938,938...144,973,453
Ensembl chr 4:144,940,033...144,973,440 		JBrowse link
G Tnfsf8 tumor necrosis factor (ligand) superfamily, member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30202016 NCBI chr 4:63,749,439...63,779,745
Ensembl chr 4:63,749,545...63,779,584 		JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor susceptibility ISO associated with HIV Infections;DNA:SNPs:3' UTR (human) RGD PMID:18712587 RGD:4889839 NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16180
    disease by infectious agent 2236
      Bacterial Infections and Mycoses 1086
        bacterial infectious disease 833
          Gram-Positive Bacterial Infections 404
            Actinomycetales Infections 328
              Mycobacterium Infections 327
                Immunodeficiency 86 1
                Immunodeficiency 88 1
                Nontuberculous Mycobacterium Infections + 159
                Paratuberculosis 6
                immunodeficiency 31B 19
                leprosy + 36
                tuberculosis + 131
paths to the root