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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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Mycobacterium Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD36 CD36 molecule (CD36 blood group) ISO RGD PMID:20950462 RGD:6893545 NCBI chr21:68,214,875...68,309,336
Ensembl chr21:68,216,201...68,268,669 		JBrowse link
G IFNG interferon gamma ISO associated with Diabetes Mellitus, Insulin-Dependent;mRNA:increased expression:lung RGD PMID:19060451 RGD:2311490 NCBI chr11:63,785,493...63,791,071
Ensembl chr11:63,786,041...63,790,473 		JBrowse link
G IFNGR1 interferon gamma receptor 1 ISO DNA: missense mutations: cds: I87T; V63G
DNA: mutation		 RGD PMID:15589309 PMID:21266457 RGD:6480268 RGD:6480429 NCBI chr13:36,203,038...36,224,039
Ensembl chr13:36,203,004...36,222,542 		JBrowse link
G IL22 interleukin 22 ISO RGD PMID:19864591 RGD:5147407 NCBI chr11:63,881,743...63,887,695
Ensembl chr11:63,882,093...63,886,761 		JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 ameliorates ISO RGD PMID:28401933 RGD:127229921 NCBI chr24:1,318,265...1,322,610
Ensembl chr24:1,318,216...1,322,462 		JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO DNA:point mutation (mouse) RGD PMID:11821237 RGD:5684969 NCBI chr10:104,276,553...104,288,466 JBrowse link
G STAT1 signal transducer and activator of transcription 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11452125 NCBI chr10:76,492,859...76,537,689
Ensembl chr10:76,492,533...76,533,393 		JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: therapeutic CTD PMID:15316035 NCBI chr20:119,656,183...119,736,151
Ensembl chr20:119,657,614...119,715,078 		JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:15316035 PMID:18941223 NCBI chr12:24,646,797...24,684,341
Ensembl chr12:24,647,412...24,678,466 		JBrowse link
Bovine Tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL23A interleukin 23 subunit alpha ISO RGD PMID:16923792 RGD:39457937 NCBI chr11:52,289,486...52,296,735
Ensembl chr11:52,295,106...52,297,244 		JBrowse link
G IL4 interleukin 4 ISO CTD Direct Evidence: therapeutic CTD PMID:17387165 NCBI chr23:35,492,158...35,501,349
Ensembl chr23:35,492,939...35,501,258 		JBrowse link
Buruli ulcer disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC11A1 solute carrier family 11 member 1 susceptibility ISO ClinVar Annotator: match by term: Buruli ulcer, susceptibility to OMIM
ClinVar		 PMID:16395392 NCBI chr10:104,276,553...104,288,466 JBrowse link
extrapulmonary tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD209 CD209 molecule susceptibility ISO DNA:SNPs:promoter: -939G>A,-871A>G (rs735239) (human) RGD PMID:24874302 RGD:39938981 NCBI chr 6:7,219,576...7,235,755
Ensembl chr 6:7,228,378...7,235,208 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO protein:increased expression:serum (human) RGD PMID:16001981 RGD:39939055 NCBI chr 7:22,202,497...22,205,730
Ensembl chr 7:22,202,527...22,204,068 		JBrowse link
G EREG epiregulin susceptibility ISO DNA:SNP:exon 4: (rs2367707) (human) RGD PMID:30634928 RGD:39457687 NCBI chr 7:22,898,998...22,924,922
Ensembl chr 7:22,901,862...22,920,678 		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 chr23:35,309,058...35,317,765
Ensembl chr23:35,307,772...35,316,763 		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 chr13:37,133,898...37,165,296
Ensembl chr13:37,143,772...37,166,793 		JBrowse link
G CARD11 caspase recruitment domain family member 11 ISO ClinVar Annotator: match by term: IFNGR1 DEFICIENCY, AUTOSOMAL RECESSIVE ClinVar PMID:25741868
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 chr13:36,203,038...36,224,039
Ensembl chr13:36,203,004...36,222,542 		JBrowse link
G IFNGR2 interferon gamma receptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr 2:58,743,365...58,779,922
Ensembl chr 2:58,743,922...58,779,356 		JBrowse link
G IL12RB1 interleukin 12 receptor subunit beta 1 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:19460324 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:16,527,392...16,557,250
Ensembl chr 6:16,528,271...16,556,840 		JBrowse link
G IL20RA interleukin 20 receptor subunit alpha ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr13:36,351,873...36,397,300
Ensembl chr13:36,352,018...36,397,302 		JBrowse link
G IL22RA2 interleukin 22 receptor subunit alpha 2 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr13:36,254,113...36,273,279
Ensembl chr13:36,255,116...36,271,258 		JBrowse link
G MAP3K5 mitogen-activated protein kinase kinase kinase 5 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr13:36,614,489...36,858,524
Ensembl chr13:36,615,633...36,858,601 		JBrowse link
G MAP7 microtubule associated protein 7 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr13:36,863,546...37,073,861
Ensembl chr13:36,888,942...37,075,818 		JBrowse link
G MTFR2 mitochondrial fission regulator 2 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr13:37,173,430...37,192,734
Ensembl chr13:37,174,438...37,192,790 		JBrowse link
G PDE7B phosphodiesterase 7B ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr13:37,230,419...37,560,391
Ensembl chr13:37,226,606...37,378,218 		JBrowse link
G PEX7 peroxisomal biogenesis factor 7 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr13:36,486,636...36,585,662
Ensembl chr13:36,485,513...36,585,736 		JBrowse link
G SLC35D3 solute carrier family 35 member D3 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr13:36,475,017...36,478,506
Ensembl chr13:36,475,981...36,478,292 		JBrowse link
immunodeficiency 31B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKAR ankyrin and armadillo repeat containing ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr10:75,193,158...75,283,782
Ensembl chr10:75,193,460...75,268,326 		JBrowse link
G ASNSD1 asparagine synthetase domain containing 1 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr10:75,179,921...75,189,552
Ensembl chr10:75,184,721...75,191,046 		JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr10:74,455,133...74,493,392 JBrowse link
G COL5A2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr10:74,509,704...74,659,251
Ensembl chr10:74,507,772...74,659,366 		JBrowse link
G CUNH2orf88 chromosome unknown C2orf88 homolog ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr10:75,573,749...75,710,761
Ensembl chr10:75,707,093...75,707,380 		JBrowse link
G GLS glutaminase ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr10:76,402,201...76,489,063
Ensembl chr10:76,402,195...76,486,498 		JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr10:75,711,829...75,852,055
Ensembl chr10:75,715,996...75,828,310 		JBrowse link
G INPP1 inositol polyphosphate-1-phosphatase ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr10:75,852,262...75,880,494
Ensembl chr10:75,869,115...75,880,492 		JBrowse link
G MFSD6 major facilitator superfamily domain containing 6 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr10:75,915,656...76,002,556
Ensembl chr10:75,916,351...76,000,275 		JBrowse link
G MSTN myostatin ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr10:75,564,816...75,570,956
Ensembl chr10:75,565,152...75,570,528 		JBrowse link
G NAB1 NGFI-A binding protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr10:76,164,199...76,206,898
Ensembl chr10:76,174,592...76,204,464 		JBrowse link
G NEMP2 nuclear envelope integral membrane protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr10:76,007,127...76,036,169
Ensembl chr10:76,009,416...76,026,235 		JBrowse link
G ORMDL1 ORMDL sphingolipid biosynthesis regulator 1 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr10:75,291,320...75,305,412
Ensembl chr10:75,287,780...75,305,001 		JBrowse link
G OSGEPL1 O-sialoglycoprotein endopeptidase like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr10:75,268,361...75,284,243
Ensembl chr10:75,266,834...75,283,795 		JBrowse link
G PMS1 PMS1 homolog 1, mismatch repair system component ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr10:75,305,129...75,392,193
Ensembl chr10:75,311,887...75,392,590 		JBrowse link
G SLC40A1 solute carrier family 40 member 1 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr10:75,076,286...75,097,742
Ensembl chr10:75,075,971...75,096,271 		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 chr10:76,492,859...76,537,689
Ensembl chr10:76,492,533...76,533,393 		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 chr10:76,553,626...76,708,540
Ensembl chr10:76,553,606...76,674,928 		JBrowse link
G WDR75 WD repeat domain 75 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr10:74,953,086...74,989,662
Ensembl chr10:74,953,072...74,991,458 		JBrowse link
immunodeficiency 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:128,152,697...128,171,007 JBrowse link
G ARHGAP4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:127,966,366...128,013,900
Ensembl chr  X:127,966,492...128,013,901 		JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868
G AVPR2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:128,328,728...128,331,482
Ensembl chr  X:128,329,449...128,331,019 		JBrowse link
G BCAP31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:128,128,739...128,152,617
Ensembl chr  X:128,128,271...128,151,823 		JBrowse link
G BGN biglycan ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:127,926,018...127,940,485
Ensembl chr  X:127,926,009...127,941,164 		JBrowse link
G BRCC3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:129,358,759...129,406,293
Ensembl chr  X:129,358,862...129,403,352 		JBrowse link
G CCNQ cyclin Q ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:128,018,651...128,030,122
Ensembl chr  X:128,019,090...128,030,083 		JBrowse link
G CLIC2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:129,564,187...129,606,324
Ensembl chr  X:129,560,658...129,606,438 		JBrowse link
G CMC4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:129,348,831...129,358,601
Ensembl chr  X:129,349,054...129,351,326 		JBrowse link
G CTAG1A cancer/testis antigen 1A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:128,825,269...128,827,442
Ensembl chr  X:128,825,844...128,827,287 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:129,015,883...129,029,741
Ensembl chr  X:129,016,046...129,030,001 		JBrowse link
G DNASE1L1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868
G DUSP9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:128,073,548...128,083,169
Ensembl chr  X:128,079,403...128,083,212 		JBrowse link
G EMD emerin ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:128,689,588...128,692,105
Ensembl chr  X:128,689,588...128,692,625 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:129,090,140...129,315,343
Ensembl chr  X:129,088,611...129,312,909 		JBrowse link
G F8A1 coagulation factor VIII associated 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:129,131,267...129,133,575 JBrowse link
G FAM3A FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:128,744,577...128,759,246
Ensembl chr  X:128,744,458...128,759,202 		JBrowse link
G FAM50A family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868
G FLNA filamin A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:128,657,580...128,683,812
Ensembl chr  X:128,657,393...128,680,531 		JBrowse link
G FUNDC2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:129,315,315...129,342,395
Ensembl chr  X:129,315,465...129,342,193 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:128,768,028...128,788,366
Ensembl chr  X:128,770,268...128,786,961 		JBrowse link
G GAB3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:128,904,743...129,004,596
Ensembl chr  X:128,902,420...128,973,550 		JBrowse link
G GDI1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868
G HAUS7 HAUS augmin like complex subunit 7 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:127,882,121...127,930,089
Ensembl chr  X:127,878,900...127,902,344 		JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:128,371,518...128,395,920
Ensembl chr  X:128,371,517...128,394,861 		JBrowse link
G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:128,212,660...128,221,637 JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Immunodeficiency 33 OMIM
ClinVar		 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11484156 PMID:11590134 More... NCBI chr  X:128,781,975...128,816,039
Ensembl chr  X:128,787,785...128,806,083 		JBrowse link
G IL9R interleukin 9 receptor ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:130,006,399...130,019,191
Ensembl chr  X:130,006,899...130,020,894 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:128,433,462...128,443,126
Ensembl chr  X:128,433,465...128,443,043 		JBrowse link
G L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:128,285,128...128,309,173
Ensembl chr  X:128,285,130...128,299,570 		JBrowse link
G LAGE3 L antigen family member 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:128,725,788...128,727,565 JBrowse link
G LOC103232819 testis-specific protein TEX28 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:128,583,639...128,607,682
Ensembl chr  X:128,583,880...128,601,402 		JBrowse link
G LOC103232838 cancer/testis antigen 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:128,864,043...128,868,405 JBrowse link
G LOC103232850 histone H2A-Bbd type 2/3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:129,130,005...129,131,069 JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:128,445,028...128,519,892
Ensembl chr  X:128,453,577...128,455,785 		JBrowse link
G MPP1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:129,030,736...129,057,952
Ensembl chr  X:129,030,735...129,044,777 		JBrowse link
G MTCP1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:129,351,336...129,358,601
Ensembl chr  X:129,352,805...129,353,322 		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:128,353,262...128,359,222
Ensembl chr  X:128,352,634...128,359,085 		JBrowse link
G PDZD4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:128,229,495...128,255,341
Ensembl chr  X:128,229,300...128,255,312 		JBrowse link
G PLXNA3 plexin A3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:128,706,354...128,721,971
Ensembl chr  X:128,708,424...128,721,971 		JBrowse link
G PLXNB3 plexin B3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:128,191,297...128,207,456
Ensembl chr  X:128,191,332...128,206,194 		JBrowse link
G PNCK pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:128,099,736...128,104,348
Ensembl chr  X:128,099,682...128,103,121 		JBrowse link
G RAB39B RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:129,536,528...129,542,238
Ensembl chr  X:129,536,347...129,542,075 		JBrowse link
G RENBP renin binding protein ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:128,359,313...128,369,070
Ensembl chr  X:128,359,396...128,368,581 		JBrowse link
G RPL10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868
G SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:128,736,793...128,741,400
Ensembl chr  X:128,736,991...128,738,424 		JBrowse link
G SLC6A8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:128,116,490...128,124,899
Ensembl chr  X:128,116,944...128,124,918 		JBrowse link
G SMIM9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:129,077,982...129,086,461
Ensembl chr  X:129,078,394...129,084,273 		JBrowse link
G SPRY3 sprouty RTK signaling antagonist 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:129,727,879...129,840,393
Ensembl chr  X:129,838,996...129,839,862 		JBrowse link
G SRPK3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:128,207,636...128,212,624
Ensembl chr  X:128,207,989...128,212,410 		JBrowse link
G SSR4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:128,221,671...128,225,628
Ensembl chr  X:128,221,443...128,225,873 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868
G TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:128,607,766...128,642,074
Ensembl chr  X:128,607,901...128,642,063 		JBrowse link
G TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:128,396,566...128,406,611
Ensembl chr  X:128,405,488...128,406,273 		JBrowse link
G TMLHE trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:129,628,788...129,729,616
Ensembl chr  X:129,626,286...129,729,592 		JBrowse link
G TREX2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:127,878,891...127,882,019 JBrowse link
G UBL4A ubiquitin like 4A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:128,733,219...128,736,150
Ensembl chr  X:128,732,876...128,736,077 		JBrowse link
G VAMP7 vesicle associated membrane protein 7 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:129,937,026...129,984,071
Ensembl chr  X:129,937,046...129,984,119 		JBrowse link
G VBP1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:129,487,543...129,510,301 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 heavy chain ISO ClinVar Annotator: match by term: X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency OMIM
ClinVar		 PMID:8634410 PMID:8655140 PMID:8900212 PMID:8916969 PMID:9536098 More...
immunodeficiency 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr20:130,143,085...130,157,716
Ensembl chr20:130,143,520...130,157,730 		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 chr20:128,660,029...128,665,485
Ensembl chr20:128,660,121...128,661,254 		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 chr20:130,383,226...130,416,926
Ensembl chr20:130,383,220...130,416,933 		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 chr20:130,036,072...130,042,036
Ensembl chr20:130,036,658...130,038,604 		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 chr20:128,204,517...128,229,866 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 chr20:129,965,964...129,987,866 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 chr20:130,074,660...130,076,355
Ensembl chr20:130,075,295...130,076,765 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr20:130,210,828...130,212,732
Ensembl chr20:130,211,718...130,212,707 		JBrowse link
G C1QTNF12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr20:130,195,746...130,204,338
Ensembl chr20:130,198,005...130,202,441 		JBrowse link
G CALML6 calmodulin like 6 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...
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 chr20:127,905,251...127,927,086
Ensembl chr20:127,905,375...127,926,913 		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 chr20:127,823,789...127,866,172
Ensembl chr20:127,828,995...127,865,544 		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 chr20:129,555,060...129,626,465 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 chr20:130,124,705...130,128,745
Ensembl chr20:130,125,790...130,126,711 		JBrowse link
G CUNH1orf159 chromosome unknown C1orf159 homolog ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr20:130,325,767...130,357,331 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 chr20:130,105,032...130,118,978
Ensembl chr20:130,104,639...130,117,139 		JBrowse link
G FAAP20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr20:129,357,043...129,373,409
Ensembl chr20:129,357,089...129,362,518 		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...
G GABRD gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr20:129,530,049...129,541,437
Ensembl chr20:129,529,108...129,541,580 		JBrowse link
G GNB1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr20:129,654,890...129,765,765
Ensembl chr20:129,707,085...129,766,667 		JBrowse link
G HES4 hes family bHLH transcription factor 4 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr20:130,433,355...130,438,589
Ensembl chr20:130,435,291...130,436,213 		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 chr20:129,023,750...129,028,790
Ensembl chr20:129,027,370...129,028,065 		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 chr20:130,128,828...130,139,580
Ensembl chr20:130,128,828...130,142,330 		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 chr20:130,419,909...130,421,409
Ensembl chr20:130,419,782...130,421,380 		JBrowse link
G KLHL17 kelch like family member 17 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr20:130,467,286...130,472,384
Ensembl chr20:130,467,261...130,471,904 		JBrowse link
G LOC103225737 multiple epidermal growth factor-like domains protein 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 chr20:128,075,329...128,195,618 JBrowse link
G LOC103225750 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 chr20:128,916,051...128,963,545
Ensembl chr20:128,921,369...128,963,188 		JBrowse link
G LOC103225783 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 chr20:129,848,297...129,873,287 JBrowse link
G LOC103225792 ATPase family AAA domain containing 3C ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr20:129,997,941...130,008,356 JBrowse link
G LOC103225798 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 chr20:130,049,590...130,065,241
Ensembl chr20:130,049,646...130,065,881 		JBrowse link
G LOC103225805 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 chr20:130,119,451...130,122,920
Ensembl chr20:130,119,804...130,122,903 		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 chr20:127,881,446...127,896,138
Ensembl chr20:127,881,473...127,895,959 		JBrowse link
G MIB2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr20:129,878,014...129,893,239
Ensembl chr20:129,877,142...129,884,894 		JBrowse link
G MMP23B matrix metallopeptidase 23B ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr20:129,873,838...129,876,521
Ensembl chr20:129,873,867...129,876,524 		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 chr20:129,163,876...129,231,520
Ensembl chr20:129,169,893...129,231,604 		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 chr20:130,042,502...130,047,019 JBrowse link
G MXRA8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr20:130,092,280...130,102,819
Ensembl chr20:130,096,289...130,104,551 		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 chr20:129,770,575...129,800,914
Ensembl chr20:129,769,822...129,803,817 		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 chr20:130,473,526...130,488,570
Ensembl chr20:130,473,547...130,490,907 		JBrowse link
G PANK4 pantothenate kinase 4 (inactive) ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr20:129,030,853...129,050,944
Ensembl chr20:129,030,904...129,050,636 		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 chr20:129,145,587...129,155,687
Ensembl chr20:129,145,638...129,153,968 		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 chr20:129,053,571...129,127,238 JBrowse link
G PLEKHN1 pleckstrin homology domain containing N1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr20:130,456,993...130,467,189
Ensembl chr20:130,458,267...130,466,472 		JBrowse link
G PRDM16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr20:128,249,894...128,613,842 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 chr20:129,367,309...129,502,681
Ensembl chr20:129,365,679...129,485,818 		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 chr20:128,964,750...128,969,469
Ensembl chr20:128,964,987...128,967,620 		JBrowse link
G PUSL1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr20:130,139,479...130,142,819
Ensembl chr20:130,139,480...130,142,342 		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 chr20:129,155,902...129,169,648
Ensembl chr20:129,156,067...129,169,597 		JBrowse link
G RNF223 ring finger protein 223 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr20:130,359,448...130,365,430
Ensembl chr20:130,364,349...130,365,098 		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 chr20:130,488,810...130,510,621 JBrowse link
G SCNN1D sodium channel epithelial 1 subunit delta ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr20:130,158,282...130,169,479 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 chr20:130,212,962...130,228,831
Ensembl chr20:130,216,225...130,228,962 		JBrowse link
G SKI SKI proto-oncogene ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr20:129,243,033...129,324,162
Ensembl chr20:129,242,445...129,324,138 		JBrowse link
G SLC35E2B solute carrier family 35 member E2B ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr20:129,808,281...129,843,006
Ensembl chr20:129,824,956...129,846,114 		JBrowse link
G SMIM1 small integral membrane protein 1 (Vel blood group) ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr20:127,900,506...127,904,242
Ensembl chr20:127,900,976...127,903,371 		JBrowse link
G SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr20:129,922,992...129,958,551
Ensembl chr20:129,923,091...129,958,712 		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 chr20:129,959,081...129,965,352
Ensembl chr20:129,959,462...129,965,375 		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...
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 chr20:130,028,526...130,031,739
Ensembl chr20:130,026,134...130,030,985 		JBrowse link
G TNFRSF14 TNF receptor superfamily member 14 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr20:128,992,572...128,999,829
Ensembl chr20:128,992,489...129,000,338 		JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr20:130,237,950...130,243,303
Ensembl chr20:130,225,847...130,242,251 		JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr20:130,231,064...130,234,525
Ensembl chr20:130,231,584...130,234,313 		JBrowse link
G TP73 tumor protein p73 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr20:127,958,002...128,035,792
Ensembl chr20:127,958,809...128,013,691 		JBrowse link
G TPRG1L tumor protein p63 regulated 1 like ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr20:128,057,629...128,062,545
Ensembl chr20:128,059,137...128,062,455 		JBrowse link
G TTLL10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr20:130,247,309...130,270,452 JBrowse link
G UBE2J2 ubiquitin conjugating enzyme E2 J2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr20:130,174,207...130,192,723
Ensembl chr20:130,174,223...130,195,150 		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 chr20:130,016,802...130,023,138
Ensembl chr20:130,014,754...130,021,822 		JBrowse link
G WRAP73 WD repeat containing, antisense to TP73 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr20:128,037,727...128,056,981
Ensembl chr20:128,037,821...128,056,770 		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 chr11:63,785,493...63,791,071
Ensembl chr11:63,786,041...63,790,473 		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 chr26:32,574,585...32,633,473
Ensembl chr26:32,574,612...32,634,034 		JBrowse link
Immunodeficiency 88 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBX21 T-box transcription factor 21 ISO ClinVar Annotator: match by term: Immunodeficiency 88 ClinVar
OMIM		 PMID:25741868 NCBI chr16:68,131,258...68,145,579
Ensembl chr16:68,131,536...68,144,415 		JBrowse link
Latent Tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 ISO mRNA, protein:increased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human) RGD PMID:29602771 RGD:41404732 NCBI chr21:61,211,044...61,430,691
Ensembl chr21:61,322,748...61,529,274 		JBrowse link
G GPA33 glycoprotein A33 ISO mRNA, protein:decreased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human) RGD PMID:29602771 RGD:41404732 NCBI chr25:61,944,882...61,983,695
Ensembl chr25:61,945,340...61,985,078 		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 7:13,808,104...13,891,003
Ensembl chr 7:13,808,037...13,890,976 		JBrowse link
lepromatous leprosy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 severity ISO protein:decreased expression:serum RGD PMID:6342123 RGD:7411735 NCBI chr 6:6,250,422...6,289,264 JBrowse link
G CD163 CD163 molecule exacerbates ISO protein:increased expression:blood serum (human) RGD PMID:22851198 PMID:28355218 RGD:127345133 RGD:39939078 NCBI chr11:7,501,562...7,536,332
Ensembl chr11:7,501,150...7,536,295 		JBrowse link
G CFB complement factor B severity ISO RGD PMID:6342123 RGD:7411735 Ensembl chr17:40,069,909...40,094,207 JBrowse link
G IL27 interleukin 27 ameliorates ISO mRNA:decreased expression:skin of body (human) RGD PMID:26030183 RGD:126790539 NCBI chr 5:26,348,559...26,358,028
Ensembl chr 5:26,348,848...26,356,360 		JBrowse link
G MBL2 mannose binding lectin 2 susceptibility ISO DNA:SNP:cds:161G>A (human) RGD PMID:20650301 RGD:8694069 NCBI chr 9:78,389,534...78,394,753
Ensembl chr 9:78,389,947...78,396,079 		JBrowse link
G MHC-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility ISO DNA:polymorphisms: :HLA-DQA1*03, HLA-DQA1*05 (human) RGD PMID:19698125 RGD:5147788 NCBI chr17:39,422,445...39,428,777
Ensembl chr17:39,420,134...39,428,871 		JBrowse link
leprosy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BATF3 basic leucine zipper ATF-like transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25642632 NCBI chr25:16,832,733...16,848,835
Ensembl chr25:16,834,957...16,848,510 		JBrowse link
G CCDC122 coiled-coil domain containing 122 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:25741868 NCBI chr 3:21,955,067...21,996,013
Ensembl chr 3:21,955,153...21,985,595 		JBrowse link
G CCDC88B coiled-coil domain containing 88B ISO CTD Direct Evidence: marker/mechanism CTD PMID:25642632
G CD8A CD8 subunit alpha exacerbates ISO mRNA:increased expression:blood (human) RGD PMID:31784594 RGD:124715449 NCBI chr14:18,878,013...18,885,183
Ensembl chr14:18,878,622...18,883,885 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 severity ISO DNA:SNP:promoter:g.-353T>A (rs4073) (human) RGD PMID:30303246 RGD:40400755 NCBI chr 7:22,202,497...22,205,730
Ensembl chr 7:22,202,527...22,204,068 		JBrowse link
G IL10 interleukin 10 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:28492532 NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836 		JBrowse link
G IL17A interleukin 17A severity ISO mRNA:decreased expression:epidermis (human) RGD PMID:22641009 RGD:8698644 NCBI chr17:20,314,082...20,319,917
Ensembl chr17:20,315,773...20,318,785 		JBrowse link
G IL19 interleukin 19 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:28492532 NCBI chr25:22,514,199...22,523,680
Ensembl chr25:22,514,559...22,520,499 		JBrowse link
G IL23R interleukin 23 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22019778 NCBI chr20:65,853,379...65,946,000
Ensembl chr20:65,854,349...65,938,024 		JBrowse link
G LACC1 laccase domain containing 1 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:25741868 NCBI chr 3:21,995,405...22,008,310
Ensembl chr 3:21,997,133...22,006,418 		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 chr11:36,490,775...36,634,215
Ensembl chr11:36,492,011...36,634,216 		JBrowse link
G LTA lymphotoxin alpha susceptibility ISO ClinVar Annotator: match by term: Leprosy, early-onset, susceptibility to OMIM
ClinVar		 PMID:15052269 PMID:17353895
G MRC1 mannose receptor C-type 1 ISO ClinVar Annotator: match by term: Susceptibility to leprosy and multibacillary leprosy ClinVar PMID:20035344 NCBI chr 9:17,751,053...17,849,258
Ensembl chr 9:17,751,133...17,849,406 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr 5:36,492,158...36,531,766
Ensembl chr 5:36,496,414...36,530,499 		JBrowse link
G PARL presenilin associated rhomboid like ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr15:5,536,556...5,589,522
Ensembl chr15:5,536,610...5,590,825 		JBrowse link
G PINK1 PTEN induced kinase 1 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr20:111,902,135...111,919,082
Ensembl chr20:111,902,765...111,919,069 		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 chr13:88,856,056...90,329,379 JBrowse link
G RAB32 RAB32, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:22019778 NCBI chr13:25,265,831...25,281,106 JBrowse link
G RIPK2 receptor interacting serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr 8:84,843,391...84,881,087
Ensembl chr 8:84,843,471...84,881,303 		JBrowse link
G SLC11A1 solute carrier family 11 member 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphisms, haplotype (human)
DNA:repeat:promoter (human)		 CTD
RGD		 PMID:10608779 PMID:15755200 PMID:16597321 RGD:5684957 RGD:5684972 NCBI chr10:104,276,553...104,288,466 JBrowse link
G TLR1 toll like receptor 1 susceptibility ISO ClinVar Annotator: match by term: LPRS1 | ClinVar Annotator: match by term: Leprosy, susceptibility to, 5
DNA:snp:cds:p.I602S (human)		 ClinVar
RGD
OMIM		 PMID:17475868 PMID:17548585 PMID:18461142 PMID:19456232 PMID:23105135 More... RGD:7246917 NCBI chr27:11,482,307...11,490,847
Ensembl chr27:11,488,294...11,490,654 		JBrowse link
G TLR2 toll like receptor 2 susceptibility ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 3 OMIM
ClinVar		 PMID:11476982 PMID:12646604 PMID:15726416 PMID:19111445 PMID:25741868 More... NCBI chr 7:100,239,533...100,565,955
Ensembl chr 7:100,258,441...100,260,795 		JBrowse link
G TLR6 toll like receptor 6 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr27:11,439,288...11,461,580
Ensembl chr27:11,459,181...11,461,571 		JBrowse link
G TNF tumor necrosis factor susceptibility ISO DNA:SNP:promoter:−308G>A (human) RGD PMID:20650301 RGD:8694069
G TNFSF15 TNF superfamily member 15 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr12:24,784,185...24,801,809
Ensembl chr12:24,785,046...24,800,692 		JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25320285 NCBI chr12:24,646,797...24,684,341
Ensembl chr12:24,647,412...24,678,466 		JBrowse link
Meningeal Tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL4R interleukin 4 receptor ISO protein:decreased expression:serum RGD PMID:21251883 RGD:5128510 NCBI chr 5:25,019,638...25,069,732
Ensembl chr 5:25,046,701...25,070,015 		JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:10318940 RGD:10449456
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
G SLC11A1 solute carrier family 11 member 1 ISO DNA:insertion/deletion:3' utr (human) RGD PMID:11791966 RGD:5684970 NCBI chr10:104,276,553...104,288,466 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:46,349,890...46,365,133 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 chr15:81,128,427...81,142,779
Ensembl chr15:81,129,795...81,147,391 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO protein:increased expression:blood plasma, erythrocyte (human) RGD PMID:26300588 RGD:11250849 NCBI chr 7:22,202,497...22,205,730
Ensembl chr 7:22,202,527...22,204,068 		JBrowse link
G IL17A interleukin 17A ISO RGD PMID:20797909 RGD:4888520 NCBI chr17:20,314,082...20,319,917
Ensembl chr17:20,315,773...20,318,785 		JBrowse link
G TNF tumor necrosis factor ISO associated with HIV Infections RGD PMID:7640175 RGD:10450731
Nontuberculous Mycobacterium Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFTR CF transmembrane conductance regulator susceptibility ISO DNA:mutations: :
DNA:SNP:cds:rs113857788(p.Q1352H)(human)		 RGD PMID:18703788 PMID:19858235 PMID:23514810 RGD:36049751 RGD:4140395 RGD:4140430 NCBI chr21:86,154,313...86,332,436 JBrowse link
G IFNGR1 interferon gamma receptor 1 susceptibility ISO DNA:nonsense mutation
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection		 RGD
ClinVar		 PMID:8960473 PMID:9389728 PMID:9536098 PMID:9806040 PMID:10192386 More... RGD:1624283 NCBI chr13:36,203,038...36,224,039
Ensembl chr13:36,203,004...36,222,542 		JBrowse link
G IL12B interleukin 12B susceptibility ISO disseminated BCG and Salmonella enteritidis infection, OMIM:209950 DNA:deletion:intron,exon:homozygous 4.4kb deletion encompassing exons 4 and 5 and associated introns
ClinVar Annotator: match by term: Familial Atypical Mycobacteriosis, Autosomal Recessive		 RGD
ClinVar		 PMID:9854038 RGD:1600042 NCBI chr23:61,714,293...61,731,835 JBrowse link
G IL18 interleukin 18 ISO RGD PMID:21045270 RGD:4889546 NCBI chr 1:103,485,868...103,511,632
Ensembl chr 1:103,482,083...103,510,150 		JBrowse link
G IL1R1 interleukin 1 receptor type 1 ISO RGD PMID:16797208 RGD:5037237 NCBI chr14:5,781,486...5,852,872
Ensembl chr14:5,781,479...5,855,942 		JBrowse link
G IL20RA interleukin 20 receptor subunit alpha ISO ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183 NCBI chr13:36,351,873...36,397,300
Ensembl chr13:36,352,018...36,397,302 		JBrowse link
G IL22RA2 interleukin 22 receptor subunit alpha 2 ISO ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183 NCBI chr13:36,254,113...36,273,279
Ensembl chr13:36,255,116...36,271,258 		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 chr13:35,925,356...35,926,211
Ensembl chr13:35,925,373...35,926,194 		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 chr13:36,486,636...36,585,662
Ensembl chr13:36,485,513...36,585,736 		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 chr13:36,475,017...36,478,506
Ensembl chr13:36,475,981...36,478,292 		JBrowse link
G STAT1 signal transducer and activator of transcription 1 susceptibility ISO DNA:transition: ; 2116T>C
ClinVar Annotator: match by term: Familial Atypical Mycobacteriosis, Autosomal Dominant		 RGD
ClinVar		 PMID:11452125 RGD:1600087 NCBI chr10:76,492,859...76,537,689
Ensembl chr10:76,492,533...76,533,393 		JBrowse link
G TNFAIP3 TNF alpha induced protein 3 ISO ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183 NCBI chr13:35,537,103...35,553,396
Ensembl chr13:35,537,102...35,549,197 		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 chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836 		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 chr16:63,435,494...63,442,790
Ensembl chr16:63,437,067...63,442,256 		JBrowse link
G C1R complement C1r ISO CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chr11:7,115,964...7,134,612
Ensembl chr11:7,125,367...7,134,758 		JBrowse link
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chr 6:6,250,422...6,289,264 JBrowse link
G GSN gelsolin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chr12:18,253,079...18,317,285
Ensembl chr12:18,253,324...18,285,938 		JBrowse link
G TF transferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chr15:56,586,311...56,618,304
Ensembl chr15:56,586,104...56,618,149 		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
pleural tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA adenosine deaminase ISO protein:increased activity:serum:
protein:increased expression:serum:
protein:increased activity:pleural fluid:		 RGD PMID:1689629 PMID:1818842 PMID:18357489 PMID:21860532 RGD:152995280 RGD:152995288 RGD:152995292 RGD:152998934 NCBI chr 2:19,167,209...19,200,233 JBrowse link
G CCL22 C-C motif chemokine ligand 22 ISO RGD PMID:20337996 RGD:4891473
G CCR2 C-C motif chemokine receptor 2 ISO RGD PMID:19159432 RGD:4145106 NCBI chr22:7,795,192...7,801,242
Ensembl chr22:7,798,646...7,799,728 		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 chr22:7,803,794...7,818,112 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:46,349,890...46,365,133 JBrowse link
G IL1B interleukin 1 beta ISO DNA:polymorphism: :3953T>C (human) RGD PMID:10377182 RGD:4143226 NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729 		JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO DNA:repeat (human) RGD PMID:10377182 RGD:4143226 NCBI chr14:16,136,667...16,152,451
Ensembl chr14:16,146,333...16,151,326 		JBrowse link
G IL27 interleukin 27 exacerbates ISO associated with Pleural Effusion;protein:increased expression:pleural fluid (human)
protein:increased expression:alveolar system (human)		 RGD PMID:23962500 PMID:25753767 PMID:28844060 PMID:31819557 RGD:126790505 RGD:126790517 RGD:126790523 RGD:126790549 NCBI chr 5:26,348,559...26,358,028
Ensembl chr 5:26,348,848...26,356,360 		JBrowse link
G IL33 interleukin 33 ISO protein:increased expression:pleural fluid: RGD PMID:23301222 RGD:39939042 NCBI chr12:73,235,585...73,283,665
Ensembl chr12:73,237,406...73,252,436 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:pleura: RGD PMID:18715875 RGD:5129700 NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712 		JBrowse link
G TLR4 toll like receptor 4 ISO RGD PMID:18295348 RGD:4144193 NCBI chr12:21,873,762...21,885,562
Ensembl chr12:21,871,773...21,885,515 		JBrowse link
G TNC tenascin C ISO protein:increased expression:pleura RGD PMID:10950882 RGD:4889594 NCBI chr12:24,457,616...24,556,194
Ensembl chr12:24,457,738...24,556,451 		JBrowse link
pulmonary tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 treatment ISO DNA:SNP: :2677G>A (human) RGD PMID:26067842 RGD:11098541 NCBI chr21:61,211,044...61,430,691
Ensembl chr21:61,322,748...61,529,274 		JBrowse link
G ADA adenosine deaminase ISO protein:increased expression:plasma, respiratory system fluid/secretion
protein:increased activity:blood, pulmonary alveolar duct
protein:increased activity:sputum:		 RGD PMID:2212911 PMID:12194640 PMID:19460251 RGD:152995271 RGD:152995390 RGD:5128854 NCBI chr 2:19,167,209...19,200,233 JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:increased expression:plasma RGD PMID:22022605 RGD:5686405 NCBI chr15:81,128,427...81,142,779
Ensembl chr15:81,129,795...81,147,391 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 susceptibility ISO DNA:SNP,haplotype:intron: IVS3+18 C/C (human) RGD PMID:20141546 RGD:38676498 NCBI chr24:82,704,087...82,730,711
Ensembl chr24:82,704,068...82,727,698 		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 9:41,085,257...41,145,760
Ensembl chr 9:41,085,361...41,145,331 		JBrowse link
G ASAP1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25774636 NCBI chr 8:124,515,274...124,912,076
Ensembl chr 8:124,514,210...124,869,668 		JBrowse link
G ATF3 activating transcription factor 3 ISO mRNA,protein:increased expression:lung RGD PMID:20856677 RGD:34888225 NCBI chr25:16,910,312...16,922,598 JBrowse link
G C3 complement C3 ISO RGD PMID:19472039 RGD:5129500 NCBI chr 6:6,250,422...6,289,264 JBrowse link
G CCL1 C-C motif chemokine ligand 1 susceptibility ISO mRNA:increased expression:lung, dendritic cell
DNA:SNP: :multiple (human)		 RGD PMID:18703681 PMID:19057661 RGD:4891408 RGD:4891409 NCBI chr16:27,868,925...27,890,143 JBrowse link
G CCL19 C-C motif chemokine ligand 19 ISO mRNA:increased expression:lung RGD PMID:19933855 RGD:5130906 NCBI chr12:45,928,212...45,930,897
Ensembl chr12:45,929,071...45,930,904 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 susceptibility ISO DNA:polymorphism: :-2518A>G (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:16352737 PMID:18940815 PMID:20111728 RGD:4891439 NCBI chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416 		JBrowse link
G CCL5 C-C motif chemokine ligand 5 susceptibility ISO mRNA:increased expression:lung (human)
DNA:snps:5' utr:g.-403G>A rs2280788, g.-28C>G rs2107538 (human)		 RGD PMID:15128813 PMID:19335954 RGD:4891879 RGD:4892112 NCBI chr16:29,351,214...29,361,317 JBrowse link
G CCR2 C-C motif chemokine receptor 2 disease_progression ISO RGD PMID:11438742 RGD:734715 NCBI chr22:7,795,192...7,801,242
Ensembl chr22:7,798,646...7,799,728 		JBrowse link
G CCR5 C-C motif chemokine receptor 5 ISO protein:decreased expression:blood, T cell (human) RGD PMID:16379602 RGD:4892094 NCBI chr22:7,803,794...7,818,112 JBrowse link
G CD14 CD14 molecule susceptibility ISO DNA:polymorphism:promoter:c. -159C>T (human)
protein:increased expression:monocyte, serum		 RGD PMID:18008256 RGD:4144205 NCBI chr23:43,264,917...43,266,825
Ensembl chr23:43,264,336...43,266,993 		JBrowse link
G CD163 CD163 molecule exacerbates ISO protein:increased expression:blood serum (human)
protein:increased expression:blood plasma, CD14-positive monocyte (human)		 RGD PMID:27684274 PMID:27685837 RGD:127285801 RGD:127345136 NCBI chr11:7,501,562...7,536,332
Ensembl chr11:7,501,150...7,536,295 		JBrowse link
G CD1D CD1d molecule susceptibility ISO DNA:SNPS, haplotype:intron, enhancer: (rs859009,rs859010, rs973742) (human) RGD PMID:30972222 RGD:127345096 NCBI chr20:5,726,307...5,733,355
Ensembl chr20:5,727,049...5,730,061 		JBrowse link
G CD209 CD209 molecule susceptibility ISO DNA:SNPs:promoter:-139G>A, -336A>G, -871A>G (rs2287886,rs4804803,rs735239) (human)
CTD Direct Evidence: marker/mechanism
associated with HIV Seropositivity; DNA:SNP:promoter: -336A>G (rs4804803) (human)		 RGD
CTD		 PMID:16379498 PMID:19126442 PMID:24874302 RGD:39938981 RGD:39939062 NCBI chr 6:7,219,576...7,235,755
Ensembl chr 6:7,228,378...7,235,208 		JBrowse link
G CD274 CD274 molecule ISO protein:increased expression:Tcell, B cell, monocyte RGD PMID:23661793 RGD:40818418 NCBI chr12:74,038,844...74,060,662
Ensembl chr12:74,041,767...74,056,806 		JBrowse link
G CD36 CD36 molecule (CD36 blood group) susceptibility ISO DNA:SNPs: :rs1194182, rs10499859(human) RGD PMID:28693442 RGD:41412192 NCBI chr21:68,214,875...68,309,336
Ensembl chr21:68,216,201...68,268,669 		JBrowse link
G CD86 CD86 molecule ISO protein:decreased expression:sputum, macrophage (human) RGD PMID:17713660 RGD:4892339 NCBI chr22:58,741,534...58,805,417
Ensembl chr22:58,741,525...58,805,366 		JBrowse link
G CRP C-reactive protein severity ISO associated with HIV Infections RGD PMID:21197091 PMID:21219690 RGD:5131284 RGD:5131287 NCBI chr20:4,232,262...4,235,826
Ensembl chr20:4,232,913...4,235,377 		JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 treatment ISO RGD PMID:29843631 RGD:27095956 NCBI chr 7:24,526,657...24,529,193
Ensembl chr 7:24,526,680...24,529,130 		JBrowse link
G CXCL6 C-X-C motif chemokine ligand 6 susceptibility ISO mRNA:increased expression:lung RGD PMID:16790804 RGD:5135246 NCBI chr 7:22,291,949...22,294,191
Ensembl chr 7:22,292,045...22,294,207 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 exacerbates ISO protein:increased expression:serum (human)
RNA:increased expression:blood plasma (human)		 RGD PMID:16001981 PMID:27434276 RGD:150523784 RGD:39939055 NCBI chr 7:22,202,497...22,205,730
Ensembl chr 7:22,202,527...22,204,068 		JBrowse link
G DDIT3 DNA damage inducible transcript 3 ISO mRNA,protein:increased expression:lung RGD PMID:20856677 RGD:34888225 NCBI chr11:53,424,693...53,429,094
Ensembl chr11:53,424,868...53,425,576 		JBrowse link
G EGFR epidermal growth factor receptor disease_progression ISO associated with lung adenocarcinoma; RGD PMID:22173705 PMID:29621876 RGD:38599162 RGD:38599176 NCBI chr21:3,664,622...3,853,492
Ensembl chr21:3,666,339...3,853,239 		JBrowse link
G EREG epiregulin susceptibility ISO DNA:SNP:exon 4: (rs2367707) (human) RGD PMID:30634928 RGD:39457687 NCBI chr 7:22,898,998...22,924,922
Ensembl chr 7:22,901,862...22,920,678 		JBrowse link
G FOXP3 forkhead box P3 susceptibility ISO DNA:polymorphism:promoter:-924A>G(human) RGD PMID:29020928 RGD:38501101 NCBI chr  X:46,349,890...46,365,133 JBrowse link
G GBE1 1,4-alpha-glucan branching enzyme 1 ISO DNA:SNP:intron:rs2307058 (human) RGD PMID:28355295 RGD:18337291 NCBI chr22:95,228,926...95,503,798
Ensembl chr22:95,229,133...95,504,840 		JBrowse link
G HAVCR2 hepatitis A virus cellular receptor 2 ISO RGD PMID:21382414 RGD:5135524 NCBI chr23:59,479,794...59,501,532
Ensembl chr23:59,475,826...59,500,836 		JBrowse link
G IDO1 indoleamine 2,3-dioxygenase 1 treatment ISO RGD PMID:32369456 RGD:39939073 NCBI chr 8:37,930,910...37,950,790
Ensembl chr 8:37,930,562...37,946,505 		JBrowse link
G IL13 interleukin 13 ISO mRNA:increased expression:Leukocytes, Mononuclear RGD PMID:10608794 RGD:4145649 NCBI chr23:35,475,762...35,479,419
Ensembl chr23:35,476,490...35,478,869 		JBrowse link
G IL15 interleukin 15 ISO mRNA, protein:increased expression:lung RGD PMID:11742275 RGD:4990461 NCBI chr 7:88,548,773...88,644,977
Ensembl chr 7:88,548,671...88,645,488 		JBrowse link
G IL18 interleukin 18 ISO protein:increased expression:serum RGD PMID:15955140 RGD:4889836 NCBI chr 1:103,485,868...103,511,632
Ensembl chr 1:103,482,083...103,510,150 		JBrowse link
G IL1A interleukin 1 alpha ISO RGD PMID:9176116 RGD:4142835 NCBI chr14:15,789,710...15,801,938
Ensembl chr14:15,789,013...15,796,611 		JBrowse link
G IL1B interleukin 1 beta severity
susceptibility		 ISO protein:increased expression:bronchioalveolar lavage fluid (human)
DNA:polymorphism: :3953T>C (human)
protein:increased expression:lung		 RGD PMID:10543265 PMID:10631206 PMID:16634865 RGD:4143179 RGD:4143180 RGD:5147843 NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729 		JBrowse link
G IL1RL1 interleukin 1 receptor like 1 ISO RGD PMID:28128217 RGD:39938965 NCBI chr14:5,966,551...6,020,391
Ensembl chr14:6,005,061...6,020,265 		JBrowse link
G IL1RN interleukin 1 receptor antagonist severity ISO protein:increased expression:lung, serum RGD PMID:10543265 PMID:10631206 PMID:14619382 RGD:4143174 RGD:4143179 RGD:4143180 NCBI chr14:16,136,667...16,152,451
Ensembl chr14:16,146,333...16,151,326 		JBrowse link
G IL23A interleukin 23 subunit alpha ISO mRNA:increased expression:lung (mouse) RGD PMID:11801672 PMID:16002675 PMID:20624887 PMID:21156751 RGD:39457949 RGD:39457953 RGD:39458036 RGD:39458038 NCBI chr11:52,289,486...52,296,735
Ensembl chr11:52,295,106...52,297,244 		JBrowse link
G IL27 interleukin 27 exacerbates ISO DNA:SNPs:promoter, exon:-964A>G, 2905T>G (human)
DNA:SNPs:promoter,exons:-964A>G, 2905T>G, 4730T>C (rs153109, rs17855750, rs181206) (human)		 RGD PMID:30948177 PMID:31949807 RGD:126790508 RGD:39456132 NCBI chr 5:26,348,559...26,358,028
Ensembl chr 5:26,348,848...26,356,360 		JBrowse link
G IL27RA interleukin 27 receptor subunit alpha ISO RGD PMID:15749890 RGD:5128486 NCBI chr 6:12,679,270...12,699,254
Ensembl chr 6:12,686,838...12,701,867 		JBrowse link
G IL33 interleukin 33 ISO RGD PMID:28128217 RGD:39938965 NCBI chr12:73,235,585...73,283,665
Ensembl chr12:73,237,406...73,252,436 		JBrowse link
G IL4 interleukin 4 severity ISO RGD PMID:20832364 RGD:5128550 NCBI chr23:35,492,158...35,501,349
Ensembl chr23:35,492,939...35,501,258 		JBrowse link
G IL4R interleukin 4 receptor ISO protein:decreased expression:serum RGD PMID:21251883 RGD:5128510 NCBI chr 5:25,019,638...25,069,732
Ensembl chr 5:25,046,701...25,070,015 		JBrowse link
G IL6 interleukin 6 ISO RGD PMID:20624776 RGD:4143257 NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237 		JBrowse link
G IL6R interleukin 6 receptor ISO protein:decreased expression:T cell RGD PMID:20019339 RGD:5128632 NCBI chr20:9,345,723...9,418,963
Ensembl chr20:9,361,152...9,396,610 		JBrowse link
G IRF1 interferon regulatory factor 1 ISO RGD PMID:11083808 RGD:5128719 NCBI chr23:35,309,058...35,317,765
Ensembl chr23:35,307,772...35,316,763 		JBrowse link
G ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 ISO protein:increased expression:urine RGD PMID:29636444 RGD:40903003 NCBI chr22:14,194,979...14,216,180
Ensembl chr22:14,195,701...14,213,603 		JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit ISO protein:decreased phosphorylation:macrophage, nucleus RGD PMID:19737230 RGD:4889999 NCBI chr20:74,204,481...74,207,835
Ensembl chr20:74,205,542...74,206,546 		JBrowse link
G LCN2 lipocalin 2 exacerbates
disease_progression		 ISO RGD PMID:19050270 PMID:30534124 RGD:126779558 RGD:126779565 NCBI chr12:9,976,278...9,981,087
Ensembl chr12:9,976,614...9,980,870 		JBrowse link
G LOC103224275 glutathione S-transferase Mu 1 susceptibility ISO associated with GSTT1 null deletion; DNA:deletion: : RGD PMID:20297661 RGD:4140932 NCBI chr20:23,854,969...23,861,634 JBrowse link
G LOC103233451 cytochrome b-245 light chain no_association ISO DNA:SNPs:exons:214C>T (rs4673), 521C>T (rs17845095) (human) RGD PMID:16608528 RGD:4780358 NCBI chr 5:74,023,134...74,030,793
Ensembl chr 5:74,023,082...74,030,750 		JBrowse link
G LTA lymphotoxin alpha susceptibility ISO DNA:polymorphism:intron:252G>A (human) RGD PMID:20180006 RGD:4143234
G MARCO macrophage receptor with collagenous structure susceptibility ISO DNA:SNPs:introns:rs4491733,rs12998782,rs13389814,rs7559955 (human)
DNA:SNPs: :rs2278589, rs6751745,rs6748401 (human)
DNA:SNP: :rs12998782(human)		 RGD PMID:23617307 PMID:27853145 PMID:28693442 RGD:41412192 RGD:41412194 RGD:41412195 NCBI chr10:11,329,036...11,389,428
Ensembl chr10:11,329,026...11,388,999 		JBrowse link
G MBL2 mannose binding lectin 2 ISO DNA:polymorphisms:5' utr, exon:multiple (human) RGD PMID:19199550 RGD:4889452 NCBI chr 9:78,389,534...78,394,753
Ensembl chr 9:78,389,947...78,396,079 		JBrowse link
G MHC-DPB1 major histocompatibility complex, class II, DP beta 1 ISO RGD PMID:18652916 RGD:5144001 NCBI chr17:38,996,329...39,007,097 JBrowse link
G MIF macrophage migration inhibitory factor susceptibility ISO DNA:SNP: :rs755622 (human) RGD PMID:20439102 RGD:4891004 NCBI chr19:7,000,837...7,001,700
Ensembl chr19:7,000,793...7,001,757 		JBrowse link
G MMP3 matrix metallopeptidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24890593 NCBI chr 1:94,216,156...94,224,437
Ensembl chr 1:94,216,173...94,224,264 		JBrowse link
G MMP7 matrix metallopeptidase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24890593 NCBI chr 1:93,889,189...93,901,077
Ensembl chr 1:93,889,198...93,899,587 		JBrowse link
G MMP8 matrix metallopeptidase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24890593 NCBI chr 1:94,097,620...94,110,114
Ensembl chr 1:94,097,896...94,109,432 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:16982845 RGD:5130746 NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712 		JBrowse link
G NAT2 N-acetyltransferase 2 susceptibility ISO RGD PMID:20297661 RGD:4140932 NCBI chr 8:16,451,144...16,494,961
Ensembl chr 8:16,493,749...16,494,621 		JBrowse link
G NFKBIA NFKB inhibitor alpha ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:9379002 RGD:126908014 NCBI chr24:12,211,619...12,216,185
Ensembl chr24:12,210,281...12,214,854 		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 5:36,492,158...36,531,766
Ensembl chr 5:36,496,414...36,530,499 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO DNA:SNPs:multiple (human) RGD PMID:19575238 RGD:4144122 NCBI chr16:21,533,011...21,576,645
Ensembl chr16:21,533,484...21,574,257 		JBrowse link
G PDCD1 programmed cell death 1 treatment ISO protein:increased expression:Tcell, B cell, monocyte RGD PMID:23661793 RGD:40818418 NCBI chr10:127,877,383...127,886,234
Ensembl chr10:127,878,554...127,886,088 		JBrowse link
G PDCD1LG2 programmed cell death 1 ligand 2 ISO protein:increased expression:Tcell, B cell, monocyte RGD PMID:23661793 RGD:40818418 NCBI chr12:73,938,194...73,998,028
Ensembl chr12:73,938,042...73,997,770 		JBrowse link
G PLAUR plasminogen activator, urokinase receptor severity ISO RGD PMID:18359089 RGD:6483832 NCBI chr 6:37,161,957...37,191,867 JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 ISO DNA:SNPs:cds:788G>A, 1858C>T (human) RGD PMID:19563523 RGD:6484723 NCBI chr20:19,792,807...19,855,784
Ensembl chr20:19,793,083...19,855,827 		JBrowse link
G SLC11A1 solute carrier family 11 member 1 susceptibility ISO DNA:deletion:3'UTR:
DNA:polymorphism:intron (human)		 RGD PMID:21169917 PMID:24024195 RGD:36049753 RGD:5684974 NCBI chr10:104,276,553...104,288,466 JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member ISO associated with HIV Infections; RGD PMID:21843574 RGD:6482248 NCBI chr17:39,252,000...39,260,195 JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:polymorphism: : RGD PMID:9062973 RGD:5147851 NCBI chr17:39,266,870...39,277,658 JBrowse link
G TLR1 toll like receptor 1 ISO mRNA:increased expression:blood RGD PMID:16493059 RGD:4889525 NCBI chr27:11,482,307...11,490,847
Ensembl chr27:11,488,294...11,490,654 		JBrowse link
G TLR2 toll like receptor 2 susceptibility ISO DNA:polymorphism:intron (human)
DNA:polymorphisms: :multiple (human)
mRNA, protein:increased expression:blood, T cell
DNA:SNP: :rs1816702 (human)		 RGD PMID:19552525 PMID:19723394 PMID:20113509 PMID:20298136 RGD:4145304 RGD:4145320 RGD:4145323 RGD:4145355 NCBI chr 7:100,239,533...100,565,955
Ensembl chr 7:100,258,441...100,260,795 		JBrowse link
G TLR4 toll like receptor 4 severity
susceptibility		 ISO DNA:polymorphisms:cds: p. D299F, T399I (human)
protein:increased expression:monocyte
DNA:SNP:intron: rs5030729 (human)		 RGD PMID:18008256 PMID:19575238 PMID:20403143 RGD:4144106 RGD:4144122 RGD:4144205 NCBI chr12:21,873,762...21,885,562
Ensembl chr12:21,871,773...21,885,515 		JBrowse link
G TNF tumor necrosis factor susceptibility
disease_progression		 ISO DNA:polymorphisms::c.-857 C>T, c. -863 A>C (human) RGD PMID:9176116 PMID:18212516 PMID:20650298 RGD:4142835 RGD:4143388 RGD:4143395
G TREM1 triggering receptor expressed on myeloid cells 1 disease_progression ISO RGD PMID:29844416 RGD:126925977 NCBI chr17:30,873,647...30,885,292
Ensembl chr17:30,873,666...30,886,967 		JBrowse link
G VDR vitamin D receptor susceptibility ISO DNA:SNPs:promoter, 3' UTR (human)
DNA:SNPs (human)
DNA:SNP (human)
DNA:SNPs:5' UTR (human)		 RGD PMID:15295697 PMID:17236578 PMID:18231846 PMID:18397302 PMID:20231985 RGD:4889830 RGD:4889842 RGD:4889845 RGD:4889849 RGD:4889853 NCBI chr11:44,062,198...44,126,295
Ensembl chr11:44,065,457...44,166,684 		JBrowse link
renal tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL4R interleukin 4 receptor ISO DNA:polymorphism:cds:p.I50V (human)
protein:decreased expression:serum		 RGD PMID:19548368 PMID:21251883 RGD:5128510 RGD:7207069 NCBI chr 5:25,019,638...25,069,732
Ensembl chr 5:25,046,701...25,070,015 		JBrowse link
Silicotuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STING1 stimulator of interferon response cGAMP interactor 1 severity ISO RGD PMID:31141689 RGD:39128194 NCBI chr23:42,153,576...42,160,903
Ensembl chr23:42,153,026...42,160,907 		JBrowse link
Spinal Tuberculoses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MHC-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility ISO DNA:missense mutation:CDS:c.592C>G (p.Q198E) (human) RGD PMID:29795056 RGD:126928140 NCBI chr17:39,422,445...39,428,777
Ensembl chr17:39,420,134...39,428,871 		JBrowse link
tuberculoid leprosy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:polymorphism: : RGD PMID:9062973 RGD:5147851 NCBI chr17:39,266,870...39,277,658 JBrowse link
tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGER advanced glycosylation end-product specific receptor severity ISO RGD PMID:22698798 RGD:6767307 NCBI chr17:39,847,343...39,851,288
Ensembl chr17:39,847,759...39,851,127 		JBrowse link
G CCL1 C-C motif chemokine ligand 1 susceptibility ISO DNA:SNP: :rs159294, rs210837, rs10491110 (human) RGD PMID:19057661 RGD:4891408 NCBI chr16:27,868,925...27,890,143 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 chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416 		JBrowse link
G CD209 CD209 molecule ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to ClinVar
OMIM		 PMID:15564514 PMID:15838506 PMID:16379498 PMID:25741868 NCBI chr 6:7,219,576...7,235,755
Ensembl chr 6:7,228,378...7,235,208 		JBrowse link
G CD274 CD274 molecule ISO mRNA, protein:increased expression:blood, neutrophil RGD PMID:21509782 RGD:41412173 NCBI chr12:74,038,844...74,060,662
Ensembl chr12:74,041,767...74,056,806 		JBrowse link
G CD86 CD86 molecule ISO protein:increased expression:lung (mouse) RGD PMID:18292558 RGD:4892329 NCBI chr22:58,741,534...58,805,417
Ensembl chr22:58,741,525...58,805,366 		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 chr14:18,878,013...18,885,183
Ensembl chr14:18,878,622...18,883,885 		JBrowse link
G CEBPB CCAAT enhancer binding protein beta ISO mRNA:increased expression:lung, spleen (mouse) RGD PMID:28558034 RGD:40903038 NCBI chr 2:13,780,538...13,782,639
Ensembl chr 2:13,781,160...13,782,194 		JBrowse link
G CIITA class II major histocompatibility complex transactivator susceptibility ISO knockouts show increased susceptibility to infection by all available criteria including mycobacterial growth, lung damage and survival time RGD PMID:12828554 RGD:5491205 NCBI chr 5:10,341,690...10,401,988
Ensembl chr 5:10,372,344...10,400,451 		JBrowse link
G CISH cytokine inducible SH2 containing protein susceptibility ISO ClinVar Annotator: match by term: Tuberculosis, susceptibility to OMIM
ClinVar		 PMID:20484391 NCBI chr22:11,993,212...11,998,625
Ensembl chr22:11,993,242...11,995,375 		JBrowse link
G CORO1A coronin 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16040207 NCBI chr 5:26,482,269...26,488,537
Ensembl chr 5:26,480,753...26,487,929 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 susceptibility ISO DNA:SNP:promoter:-251A>T (human)
protein:increased expression:blood plasma, erythrocyte (human)		 RGD PMID:26300588 PMID:32393145 RGD:11250849 RGD:150520198 NCBI chr 7:22,202,497...22,205,730
Ensembl chr 7:22,202,527...22,204,068 		JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 ISO protein:increased expression:serum RGD PMID:19281538 RGD:5135308 NCBI chr 7:24,507,121...24,513,830
Ensembl chr 7:24,507,130...24,513,121 		JBrowse link
G CYP2B6 cytochrome P450 family 2 subfamily B member 6 treatment ISO associated with human immunodeficiency virus infectious disease; ;DNA:SNP: :516G>T (rs3745274)(human)
DNA:SNPs: :c.516G>T (rs3745274) and c.785A>G (rs2279343)(human)		 RGD PMID:28389387 PMID:30239753 RGD:41410886 RGD:41412160 NCBI chr 6:35,392,699...35,418,171
Ensembl chr 6:35,393,342...35,418,106 		JBrowse link
G CYP2C19 cytochrome P450 family 2 subfamily C member 19 treatment ISO DNA:polymorphisms:: CYP2C19*17(rs12248560),CYP2C19*2 (c.681C>A; rs4244285)(human) RGD PMID:27393733 RGD:124713542 NCBI chr 9:87,981,300...88,025,007 JBrowse link
G EREG epiregulin susceptibility ISO DNA:SNP:intron: (rs7675690) (human) RGD PMID:22170233 RGD:39457686 NCBI chr 7:22,898,998...22,924,922
Ensembl chr 7:22,901,862...22,920,678 		JBrowse link
G HAS1 hyaluronan synthase 1 ISO RGD PMID:19876387 RGD:9588638 NCBI chr 6:44,540,036...44,552,396
Ensembl chr 6:44,540,363...44,547,711 		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 chr11:63,785,493...63,791,071
Ensembl chr11:63,786,041...63,790,473 		JBrowse link
G IFNGR1 interferon gamma receptor 1 susceptibility ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, protection against | ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to ClinVar
OMIM		 PMID:9389728 PMID:10192386 PMID:11583830 PMID:12516030 PMID:16195661 More... NCBI chr13:36,203,038...36,224,039
Ensembl chr13:36,203,004...36,222,542 		JBrowse link
G IL12RB1 interleukin 12 receptor subunit beta 1 ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to ClinVar PMID:9603733 PMID:12591909 PMID:28492532 NCBI chr 6:16,527,392...16,557,250
Ensembl chr 6:16,528,271...16,556,840 		JBrowse link
G IL15 interleukin 15 ISO mRNA:altered expression:lung, spleen RGD PMID:16367949 RGD:4987456 NCBI chr 7:88,548,773...88,644,977
Ensembl chr 7:88,548,671...88,645,488 		JBrowse link
G IL22 interleukin 22 ISO RGD PMID:21767990 RGD:5147402 NCBI chr11:63,881,743...63,887,695
Ensembl chr11:63,882,093...63,886,761 		JBrowse link
G IL27 interleukin 27 exacerbates ISO associated with Pleural Effusion;protein:increased expression:pleural effusion (human)
mRNA:increased expression:blood (human)		 RGD PMID:25511588 PMID:26282876 RGD:11086047 RGD:126790514 NCBI chr 5:26,348,559...26,358,028
Ensembl chr 5:26,348,848...26,356,360 		JBrowse link
G IL33 interleukin 33 ISO associated with Pleural Effusion;protein:increased expression:pleural biopsy RGD PMID:25755791 RGD:40400701 NCBI chr12:73,235,585...73,283,665
Ensembl chr12:73,237,406...73,252,436 		JBrowse link
G IRAK3 interleukin 1 receptor associated kinase 3 ISO mRNA, protein:increased expression:sputum (human) RGD PMID:19535630 RGD:36049800 NCBI chr11:61,868,817...61,920,896
Ensembl chr11:61,869,173...61,920,406 		JBrowse link
G IRGM immunity related GTPase M ISO OMIM NCBI chr23:53,449,576...53,451,373 JBrowse link
G LOC103218035 nuclear body protein SP140 ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to ClinVar PMID:16803959 PMID:16816019 PMID:17149599 PMID:25741868 PMID:28492532 NCBI chr10:116,260,787...116,359,406
Ensembl chr10:116,262,327...116,349,173 		JBrowse link
G LOC103221104 cystathionine beta-synthase severity ISO protein:increased expression:macrophages (mouse) RGD PMID:31992699 RGD:40903052 NCBI chr 2:86,905,104...86,933,780 JBrowse link
G MAPKAPK3 MAPK activated protein kinase 3 ISO ClinVar Annotator: match by term: Tuberculosis, susceptibility to ClinVar PMID:20484391 NCBI chr22:11,998,774...12,036,477 JBrowse link
G MHC-DQA1 major histocompatibility complex, class II, DQ alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26829749 NCBI chr17:39,422,445...39,428,777
Ensembl chr17:39,420,134...39,428,871 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 treatment ISO DNA:SNPs,haplotype: :rs4243387,rs2001350,rs6726395(human) RGD PMID:31586142 RGD:42722614 NCBI chr10:62,789,647...62,825,651
Ensembl chr10:62,790,124...62,825,339 		JBrowse link
G NRG1 neuregulin 1 susceptibility ISO DNA:SNP, haplotype: (rs16879814) RGD PMID:25919455 RGD:39456091 NCBI chr 8:29,745,984...30,862,140
Ensembl chr 8:30,635,803...30,856,487 		JBrowse link
G PDCD1 programmed cell death 1 treatment ISO RGD PMID:27865385 RGD:41412174 NCBI chr10:127,877,383...127,886,234
Ensembl chr10:127,878,554...127,886,088 		JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO RGD PMID:30514491 RGD:38599199 NCBI chr21:75,781,812...75,823,404
Ensembl chr21:75,784,648...75,825,496 		JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 exacerbates ISO RGD PMID:29892302 RGD:127229926 NCBI chr24:1,318,265...1,322,610
Ensembl chr24:1,318,216...1,322,462 		JBrowse link
G SLC11A1 solute carrier family 11 member 1 susceptibility ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to | ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to infection by OMIM
ClinVar		 PMID:16103355 PMID:25741868 NCBI chr10:104,276,553...104,288,466 JBrowse link
G SP110 SP110 nuclear body protein ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to ClinVar
OMIM		 PMID:16803959 PMID:16816019 PMID:17149599 PMID:24033266 PMID:25741868 More... NCBI chr10:116,214,449...116,257,531 JBrowse link
G SPP1 secreted phosphoprotein 1 ISO RGD PMID:15863395 RGD:1581371 NCBI chr 7:36,337,165...36,344,927
Ensembl chr 7:36,338,386...36,344,407 		JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 ISO RGD PMID:29791904 RGD:39128196 NCBI chr23:42,153,576...42,160,903
Ensembl chr23:42,153,026...42,160,907 		JBrowse link
G TIRAP TIR domain containing adaptor protein ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to ClinVar
OMIM		 PMID:16991088 PMID:17322885 PMID:18305471 PMID:25741868 NCBI chr 1:117,417,561...117,419,870 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 chr27:11,482,307...11,490,847
Ensembl chr27:11,488,294...11,490,654 		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 7:100,239,533...100,565,955
Ensembl chr 7:100,258,441...100,260,795 		JBrowse link
G TLR4 toll like receptor 4 ISO RGD PMID:12218133 RGD:4144821 NCBI chr12:21,873,762...21,885,562
Ensembl chr12:21,871,773...21,885,515 		JBrowse link
G TLR6 toll like receptor 6 susceptibility ISO DNA:missense mutations:cds:multiple (human) RGD PMID:18091991 RGD:7246918 NCBI chr27:11,439,288...11,461,580
Ensembl chr27:11,459,181...11,461,571 		JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:serum RGD PMID:20537163 RGD:4143229
G TNFRSF1B TNF receptor superfamily member 1B ISO DNA:snp:3' utr:g.*215C>T rs3397 (human) RGD PMID:20007930 RGD:5131209 NCBI chr20:119,590,621...119,633,562
Ensembl chr20:119,590,325...119,633,497 		JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30202016 NCBI chr12:24,646,797...24,684,341
Ensembl chr12:24,647,412...24,678,466 		JBrowse link
G VDR vitamin D receptor susceptibility ISO associated with HIV Infections;DNA:SNPs:3' UTR (human) RGD PMID:18712587 RGD:4889839 NCBI chr11:44,062,198...44,126,295
Ensembl chr11:44,065,457...44,166,684 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15338
    disease by infectious agent 2088
      Bacterial Infections and Mycoses 1021
        bacterial infectious disease 784
          Gram-Positive Bacterial Infections 376
            Actinomycetales Infections 305
              Mycobacterium Infections 304
                Immunodeficiency 86 1
                Immunodeficiency 88 1
                Nontuberculous Mycobacterium Infections + 157
                Paratuberculosis 5
                immunodeficiency 31B 19
                leprosy + 34
                tuberculosis + 115
paths to the root