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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


show annotations for term's descendants           Sort by:
Mycobacterium Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 ISO associated with pulmonary sarcoidosis;protein:increased expression:blood serum (human) RGD PMID:15881283 RGD:40818305 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703 		JBrowse link
G CD36 CD36 molecule ISO RGD PMID:20950462 RGD:6893545 NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105 		JBrowse link
G DEFB1 defensin, beta 1 ISO protein:increased expression:plasma, respiratory system fluid/secretion RGD PMID:11296379 RGD:4892261 NCBI chr15:38,076,057...38,077,899
Ensembl chr15:38,076,057...38,077,899 		JBrowse link
G IFNG interferon gamma ISO associated with Diabetes Mellitus, Insulin-Dependent;mRNA:increased expression:lung RGD PMID:19060451 RGD:2311490 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670 		JBrowse link
G IFNGR1 interferon gamma receptor 1 ISO DNA: mutation
DNA: missense mutations: cds: I87T; V63G		 RGD PMID:15589309 PMID:21266457 RGD:6480268 RGD:6480429 NCBI chr 1:27,037,151...27,061,095
Ensembl chr 1:27,037,165...27,061,093 		JBrowse link
G IL22 interleukin 22 ISO RGD PMID:19864591 RGD:5147407 NCBI chr 5:32,599,522...32,604,507
Ensembl chr 5:32,599,471...32,604,513 		JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 ameliorates ISO RGD PMID:28401933 RGD:127229921 NCBI chr 7:74,951,145...74,955,255
Ensembl chr 7:74,951,145...74,955,251 		JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO DNA:point mutation (mouse) RGD PMID:11821237 RGD:5684969 NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396 		JBrowse link
G STAT1 signal transducer and activator of transcription 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11452125 NCBI chr15:95,593,201...95,646,324
Ensembl chr15:95,593,211...95,646,260 		JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: therapeutic CTD PMID:15316035 NCBI chr 6:72,103,309...72,174,882 JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:15316035 PMID:18941223 NCBI chr 1:255,436,206...255,459,020
Ensembl chr 1:255,432,969...255,459,073 		JBrowse link
Bovine Tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL23A interleukin 23 subunit alpha ISO RGD PMID:16923792 RGD:39457937 NCBI chr 5:21,732,416...21,733,981
Ensembl chr 5:21,732,165...21,734,267 		JBrowse link
G IL4 interleukin 4 ISO CTD Direct Evidence: therapeutic CTD PMID:17387165 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365 		JBrowse link
Buruli ulcer disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC11A1 solute carrier family 11 member 1 susceptibility ISO ClinVar Annotator: match by term: Buruli ulcer, susceptibility to OMIM
ClinVar		 PMID:16395392 NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396 		JBrowse link
extrapulmonary tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD209 CD209 molecule susceptibility ISO DNA:SNPs:promoter: -939G>A,-871A>G (rs735239) (human) RGD PMID:24874302 RGD:39938981 NCBI chr 2:71,394,414...71,397,711
Ensembl chr 2:71,394,391...71,397,968 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO protein:increased expression:serum (human) RGD PMID:16001981 RGD:39939055 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861 		JBrowse link
G EREG epiregulin susceptibility ISO DNA:SNP:exon 4: (rs2367707) (human) RGD PMID:30634928 RGD:39457687 NCBI chr 8:70,351,316...70,372,530
Ensembl chr 8:70,351,311...70,372,569 		JBrowse link
Immunodeficiency 117 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IRF1 interferon regulatory factor 1 ISO ClinVar Annotator: match by term: Immunodeficiency 117 OMIM
ClinVar		 NCBI chr 2:134,776,122...134,783,646
Ensembl chr 2:134,776,129...134,783,801 		JBrowse link
immunodeficiency 27A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCLAF1 BCL2 associated transcription factor 1 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr 1:27,872,167...27,902,980
Ensembl chr 1:27,872,183...27,902,974 		JBrowse link
G CARD11 caspase recruitment domain family member 11 ISO ClinVar Annotator: match by term: IFNGR1 DEFICIENCY, AUTOSOMAL RECESSIVE ClinVar PMID:25741868 NCBI chr 3:2,145,178...2,266,377
Ensembl chr 3:2,145,178...2,266,355 		JBrowse link
G IFNGR1 interferon gamma receptor 1 ISO ClinVar Annotator: match by term: Immunodeficiency 27A OMIM
ClinVar		 PMID:8960473 PMID:8960475 PMID:9142806 PMID:9389728 PMID:9497247 More... NCBI chr 1:27,037,151...27,061,095
Ensembl chr 1:27,037,165...27,061,093 		JBrowse link
G IFNGR2 interferon gamma receptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr13:197,007,303...197,035,604
Ensembl chr13:197,007,303...197,035,604 		JBrowse link
G IL12RB1 interleukin 12 receptor subunit beta 1 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:19460324 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:59,707,958...59,736,282
Ensembl chr 2:59,707,961...59,736,282 		JBrowse link
G IL20RA interleukin 20 receptor subunit alpha ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr 1:27,137,545...27,172,341
Ensembl chr 1:27,137,558...27,172,720 		JBrowse link
G IL22RA2 interleukin 22 receptor subunit alpha 2 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr 1:27,073,481...27,090,635
Ensembl chr 1:27,073,610...27,091,236 		JBrowse link
G MAP3K5 mitogen-activated protein kinase kinase kinase 5 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr 1:27,380,143...27,600,500
Ensembl chr 1:27,380,142...27,600,493 		JBrowse link
G MAP7 microtubule associated protein 7 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr 1:27,606,021...27,782,754
Ensembl chr 1:27,606,036...27,782,747 		JBrowse link
G MTFR2 mitochondrial fission regulator 2 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr 1:27,906,162...27,998,861
Ensembl chr 1:27,908,824...28,015,101 		JBrowse link
G PDE7B phosphodiesterase 7B ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr 1:27,958,261...28,425,754
Ensembl chr 1:27,958,270...28,302,666 		JBrowse link
G PEX7 peroxisomal biogenesis factor 7 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr 1:27,257,872...27,346,529
Ensembl chr 1:27,257,011...27,346,515 		JBrowse link
G SLC35D3 solute carrier family 35 member D3 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr 1:27,246,742...27,250,476
Ensembl chr 1:27,246,752...27,250,254 		JBrowse link
immunodeficiency 31B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKAR ankyrin and armadillo repeat containing ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr15:94,276,904...94,336,484
Ensembl chr15:94,274,741...94,336,791 		JBrowse link
G ASNSD1 asparagine synthetase domain containing 1 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr15:94,261,910...94,272,129
Ensembl chr15:94,266,701...94,272,119 		JBrowse link
G C15H2orf88 chromosome 15 C2orf88 homolog ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr15:94,628,283...94,794,114
Ensembl chr15:94,478,021...94,791,775 		JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,526,603...93,596,363 		JBrowse link
G COL5A2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr15:93,611,856...93,981,131
Ensembl chr15:93,611,856...93,800,191 		JBrowse link
G GLS glutaminase ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr15:95,513,414...95,606,029
Ensembl chr15:95,513,446...95,598,311 		JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr15:94,795,744...94,941,362
Ensembl chr15:94,792,985...94,941,266 		JBrowse link
G INPP1 inositol polyphosphate-1-phosphatase ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr15:94,956,535...94,987,286
Ensembl chr15:94,956,532...94,987,279 		JBrowse link
G MFSD6 major facilitator superfamily domain containing 6 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr15:95,015,281...95,102,228
Ensembl chr15:95,015,325...95,102,219 		JBrowse link
G MSTN myostatin ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr15:94,623,526...94,628,440
Ensembl chr15:94,620,270...94,628,545 		JBrowse link
G NAB1 NGFI-A binding protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr15:95,248,703...95,295,078
Ensembl chr15:95,248,814...95,295,081 		JBrowse link
G NEMP2 nuclear envelope integral membrane protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr15:95,111,131...95,513,414
Ensembl chr15:95,097,154...95,140,478 		JBrowse link
G ORMDL1 ORMDL sphingolipid biosynthesis regulator 1 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr15:94,359,784...94,377,331
Ensembl chr15:94,359,358...94,377,303 		JBrowse link
G OSGEPL1 O-sialoglycoprotein endopeptidase like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr15:94,328,924...94,359,328
Ensembl chr15:94,331,064...94,351,564 		JBrowse link
G PMS1 PMS1 homolog 1, mismatch repair system component ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr15:94,351,603...94,476,505
Ensembl chr15:94,351,630...94,476,506 		JBrowse link
G SLC40A1 solute carrier family 40 member 1 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr15:94,140,635...94,161,793
Ensembl chr15:94,141,988...94,167,408 		JBrowse link
G STAT1 signal transducer and activator of transcription 1 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Immunodeficiency 31B | ClinVar Annotator: match by term: Mycobacterial and viral infections, susceptibility to, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:12590259 PMID:16199547 PMID:16585605 PMID:17576681 More... NCBI chr15:95,593,201...95,646,324
Ensembl chr15:95,593,211...95,646,260 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:22651901 PMID:28492532 NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,656,077...95,763,472 		JBrowse link
G WDR75 WD repeat domain 75 ISO ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr15:93,981,054...94,026,479
Ensembl chr15:93,981,215...94,026,707 		JBrowse link
immunodeficiency 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,485,076...124,501,742
Ensembl chr  X:124,485,076...124,501,741 		JBrowse link
G ARHGAP4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,641,222...124,655,312
Ensembl chr  X:124,641,226...124,655,279 		JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,318,874...124,357,653
Ensembl chr  X:124,301,713...124,357,653 		JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,952,532...124,960,344
Ensembl chr  X:124,952,500...124,960,343 		JBrowse link
G AVPR2 vasopressin receptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,638,433...124,640,969
Ensembl chr  X:124,638,523...124,640,966 		JBrowse link
G BCAP31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,456,999...124,484,923
Ensembl chr  X:124,457,001...124,484,743 		JBrowse link
G BGN biglycan ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,282,048...124,295,450
Ensembl chr  X:124,275,305...124,295,445 		JBrowse link
G BRCC3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,383,392...125,439,082
Ensembl chr  X:125,383,414...125,439,082 		JBrowse link
G CCNQ cyclin Q ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,361,003...124,370,072
Ensembl chr  X:124,361,006...124,369,867 		JBrowse link
G CLIC2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,546,451...125,560,059
Ensembl chr  X:125,546,467...125,570,523 		JBrowse link
G CMC4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,372,941...125,383,272
Ensembl chr  X:125,372,941...125,376,999 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,218,928...125,228,881
Ensembl chr  X:125,218,923...125,229,525 		JBrowse link
G DNASE1L1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,931,410...124,937,569
Ensembl chr  X:124,931,410...124,939,965 		JBrowse link
G DUSP9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,404,852...124,414,246
Ensembl chr  X:124,409,289...124,414,212 		JBrowse link
G EMD emerin ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,883,047...124,885,429
Ensembl chr  X:124,883,049...124,885,432 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,265,330...125,350,853
Ensembl chr  X:125,229,450...125,350,853 		JBrowse link
G F8A1 coagulation factor VIII-associated 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,280,978...125,282,771 JBrowse link
G FAM3A FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,015,985...125,025,119
Ensembl chr  X:125,014,714...125,025,104 		JBrowse link
G FAM50A family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,967,821...124,973,487
Ensembl chr  X:124,967,510...124,973,483 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
G FUNDC2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,354,032...125,366,029
Ensembl chr  X:125,354,021...125,372,610 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,029,150...125,041,040 		JBrowse link
G GAB3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,158,148...125,209,080
Ensembl chr  X:125,158,154...125,209,035 		JBrowse link
G GDI1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,960,835...124,966,833
Ensembl chr  X:124,960,990...124,966,832 		JBrowse link
G H2AB1 H2A.B variant histone 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,277,575...125,280,752 JBrowse link
G H2AB2 H2A.B variant histone 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,537,401...125,540,026 JBrowse link
G HAUS7 HAUS augmin like complex subunit 7 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,234,735...124,258,133
Ensembl chr  X:124,234,736...124,258,098 		JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,673,125...124,694,846
Ensembl chr  X:124,673,128...124,694,152 		JBrowse link
G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,528,643...124,537,570
Ensembl chr  X:124,528,585...124,537,575 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Immunodeficiency 33 OMIM
ClinVar		 PMID:11590134 PMID:15229184 PMID:16950813 PMID:18222329 PMID:20529958 More... NCBI chr  X:125,035,575...125,056,445
Ensembl chr  X:125,036,508...125,056,453 		JBrowse link
G IL9R interleukin 9 receptor ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr 3:41,581,253...41,590,485
Ensembl chr 3:41,583,693...41,594,867 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,717,604...124,724,855
Ensembl chr  X:124,717,612...124,724,860 		JBrowse link
G L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,595,649...124,618,292
Ensembl chr  X:124,595,651...124,618,307 		JBrowse link
G LAGE3 L antigen family member 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,001,673...125,003,206 JBrowse link
G LOC102166335 EKC/KEOPS complex subunit LAGE3-like ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,150,593...125,152,014 JBrowse link
G LOC494564 medium-wave-sensitive opsin ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,816,014...124,828,225 JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,735,523...124,789,063
Ensembl chr  X:124,735,656...124,738,659 		JBrowse link
G MPP1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,230,412...125,252,384
Ensembl chr  X:125,229,450...125,350,853 		JBrowse link
G MTCP1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,372,941...125,377,910
Ensembl chr  X:125,377,350...125,381,178 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,658,429...124,662,744
Ensembl chr  X:124,658,158...124,662,702 		JBrowse link
G PDZD4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,543,845...124,567,477
Ensembl chr  X:124,544,944...124,567,369 		JBrowse link
G PLXNA3 plexin A3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,982,307...124,997,098
Ensembl chr  X:124,983,943...124,997,072 		JBrowse link
G PLXNB3 plexin B3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,507,953...124,522,780
Ensembl chr  X:124,509,526...124,522,767 		JBrowse link
G PNCK pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,425,867...124,430,000
Ensembl chr  X:124,425,872...124,429,261 		JBrowse link
G RAB39B RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,520,764...125,528,253
Ensembl chr  X:125,520,497...125,527,379 		JBrowse link
G RENBP renin binding protein ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,662,957...124,670,522
Ensembl chr  X:124,662,719...124,672,235 		JBrowse link
G RPL10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,927,249...124,929,791
Ensembl chr  X:124,926,772...124,929,791 		JBrowse link
G SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,010,128...125,013,992
Ensembl chr  X:125,010,131...125,011,928 		JBrowse link
G SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,007,121...125,009,657
Ensembl chr  X:125,007,122...125,013,980 		JBrowse link
G SLC6A8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,435,282...124,452,182
Ensembl chr  X:124,294,856...124,452,182 		JBrowse link
G SMIM9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,254,737...125,262,113
Ensembl chr  X:125,255,157...125,259,938 		JBrowse link
G SPRY3 sprouty RTK signaling antagonist 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,744,643...125,764,342
Ensembl chr  X:125,754,671...125,763,636 		JBrowse link
G SRPK3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,524,102...124,528,607
Ensembl chr  X:124,524,083...124,528,945 		JBrowse link
G SSR4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,537,545...124,541,635
Ensembl chr  X:124,537,540...124,541,637 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,940,036...124,946,275
Ensembl chr  X:124,940,031...124,946,273 		JBrowse link
G TEX28 testis expressed 28 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,828,222...124,840,093
Ensembl chr  X:124,828,225...124,834,315 		JBrowse link
G TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,840,072...124,867,313
Ensembl chr  X:124,839,995...124,867,614 		JBrowse link
G TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,695,050...124,699,349 JBrowse link
G TMLHE trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,601,920...125,673,716
Ensembl chr  X:125,598,116...125,673,669 		JBrowse link
G TREX2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,234,736...124,244,193
Ensembl chr  X:124,234,738...124,238,598 		JBrowse link
G VAMP7 vesicle associated membrane protein 7 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,863,266...125,917,232
Ensembl chr  X:125,863,292...125,917,225 		JBrowse link
G VBP1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,485,357...125,506,781
Ensembl chr  X:125,480,808...125,506,771 		JBrowse link
immunodeficiency 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GP91-PHOX NADPH oxidase heavy chain subunit ISO ClinVar Annotator: match by term: X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency OMIM
ClinVar		 PMID:8634410 PMID:8655140 PMID:8900212 PMID:8916969 PMID:9536098 More... NCBI chr  X:33,654,656...33,678,346
Ensembl chr  X:33,643,648...33,680,580 		JBrowse link
immunodeficiency 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,579,291...63,593,429
Ensembl chr 6:63,579,304...63,593,435 		JBrowse link
G ACTRT2 actin related protein T2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,664,484...64,665,774
Ensembl chr 6:64,664,641...64,665,774 		JBrowse link
G AGRN agrin ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,366,017...63,398,311
Ensembl chr 6:63,365,983...63,398,309 		JBrowse link
G ANKRD65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,678,757...63,686,409 JBrowse link
G ARHGEF16 Rho guanine nucleotide exchange factor 16 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,026,490...65,048,545
Ensembl chr 6:65,027,442...65,048,542 		JBrowse link
G AURKAIP1 aurora kinase A interacting protein 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,656,120...63,657,568
Ensembl chr 6:63,656,119...63,657,472 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,540,066...63,541,962
Ensembl chr 6:63,540,141...63,541,112 		JBrowse link
G C1QTNF12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,548,862...63,555,991
Ensembl chr 6:63,548,864...63,553,332 		JBrowse link
G CALML6 calmodulin like 6 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,970,359...63,971,973 JBrowse link
G CCDC27 coiled-coil domain containing 27 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,242,725...65,254,879
Ensembl chr 6:65,242,602...65,255,727 		JBrowse link
G CCNL2 cyclin L2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,659,053...63,668,077
Ensembl chr 6:63,659,054...63,668,047 		JBrowse link
G CDK11 cyclin dependent kinase 11 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,804,914...63,819,960 JBrowse link
G CEP104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,274,092...65,310,735
Ensembl chr 6:65,274,488...65,310,669 		JBrowse link
G CFAP74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,976,011...64,038,899
Ensembl chr 6:63,976,346...64,024,562 		JBrowse link
G CPTP ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,607,991...63,612,325 JBrowse link
G DVL1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,617,787...63,628,965
Ensembl chr 6:63,617,789...63,628,913 		JBrowse link
G FAAP20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,160,760...64,169,663 JBrowse link
G FNDC10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,762,059...63,765,483
Ensembl chr 6:63,764,815...63,765,483 		JBrowse link
G GABRD gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,049,665...64,059,644
Ensembl chr 6:64,049,675...64,059,640 		JBrowse link
G GNB1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,867,155...63,957,514
Ensembl chr 6:63,867,158...63,952,505 		JBrowse link
G HES4 hes family bHLH transcription factor 4 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,351,593...63,356,690
Ensembl chr 6:63,351,602...63,356,466 		JBrowse link
G HES5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,409,110...64,410,541
Ensembl chr 6:64,408,956...64,410,881 		JBrowse link
G INTS11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,596,809...63,607,915
Ensembl chr 6:63,596,803...63,607,921 		JBrowse link
G ISG15 ISG15 ubiquitin like modifier ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency OMIM
ClinVar		 PMID:9536098 PMID:9683594 PMID:10862081 PMID:17576681 PMID:19492091 More... NCBI chr 6:63,363,201...63,364,211
Ensembl chr 6:63,363,173...63,364,208 		JBrowse link
G KLHL17 kelch like family member 17 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,320,898...63,328,093
Ensembl chr 6:63,322,184...63,328,259 		JBrowse link
G LOC100525876 ATPase family AAA domain-containing protein 3 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,706,155...63,721,574
Ensembl chr 6:63,701,460...63,721,573 		JBrowse link
G LOC100624218 MORN repeat-containing protein 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,266,184...64,300,980
Ensembl chr 6:64,253,268...64,300,897 		JBrowse link
G LRRC47 leucine rich repeat containing 47 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,261,990...65,271,745
Ensembl chr 6:65,260,793...65,271,729 		JBrowse link
G MEGF6 multiple EGF like domains 6 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,055,533...65,141,449
Ensembl chr 6:65,053,389...65,141,380 		JBrowse link
G MIB2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,787,200...63,800,425
Ensembl chr 6:63,787,201...63,800,423 		JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,436,778...64,470,888
Ensembl chr 6:64,436,642...64,472,759 		JBrowse link
G MMP23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,801,668...63,804,275
Ensembl chr 6:63,801,965...63,805,046 		JBrowse link
G MRPL20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,670,750...63,675,834
Ensembl chr 6:63,670,755...63,675,839 		JBrowse link
G MXRA8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,630,936...63,635,623
Ensembl chr 6:63,630,938...63,635,456 		JBrowse link
G NADK NAD kinase ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,846,650...63,864,137
Ensembl chr 6:63,846,655...63,863,946 		JBrowse link
G NOC2L NOC2 like nucleolar associated transcriptional repressor ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,307,703...63,320,799
Ensembl chr 6:63,307,695...63,335,201 		JBrowse link
G PANK4 pantothenate kinase 4 (inactive) ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,393,092...64,407,443
Ensembl chr 6:64,393,102...64,407,448 		JBrowse link
G PEX10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,311,743...64,317,693 JBrowse link
G PLCH2 phospholipase C eta 2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,325,918...64,392,070
Ensembl chr 6:64,325,952...64,392,068 		JBrowse link
G PLEKHN1 pleckstrin homology domain containing N1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,328,054...63,336,140
Ensembl chr 6:63,328,605...63,336,138 		JBrowse link
G PRDM16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,704,181...65,012,580
Ensembl chr 6:64,704,920...65,012,570 		JBrowse link
G PRKCZ protein kinase C zeta ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,073,343...64,159,187
Ensembl chr 6:64,068,577...64,163,472 		JBrowse link
G PRXL2B peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,432,187...64,435,328
Ensembl chr 6:64,432,148...64,435,320 		JBrowse link
G PUSL1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,593,539...63,596,921
Ensembl chr 6:63,593,959...63,599,019 		JBrowse link
G RER1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,301,139...64,311,526
Ensembl chr 6:64,301,199...64,311,783 		JBrowse link
G RNF223 ring finger protein 223 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,413,080...63,445,277
Ensembl chr 6:63,413,086...63,414,357 		JBrowse link
G SAMD11 sterile alpha motif domain containing 11 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,287,449...63,308,231
Ensembl chr 6:63,287,713...63,308,482 		JBrowse link
G SCNN1D sodium channel epithelial 1 subunit delta ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,568,171...63,578,623 JBrowse link
G SDF4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,529,853...63,539,979
Ensembl chr 6:63,529,853...63,544,944 		JBrowse link
G SKI SKI proto-oncogene ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,188,265...64,242,596
Ensembl chr 6:64,188,236...64,242,560 		JBrowse link
G SLC35E2 solute carrier family 35 member E2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,820,804...63,842,400
Ensembl chr 6:63,820,812...63,835,561 		JBrowse link
G SMIM1 small integral membrane protein 1 (Vel blood group) ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,255,792...65,259,129
Ensembl chr 6:65,255,823...65,259,126 		JBrowse link
G SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,728,318...63,757,460
Ensembl chr 6:63,728,325...63,755,163 		JBrowse link
G TAS1R3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,613,536...63,617,831
Ensembl chr 6:63,607,990...63,617,809 		JBrowse link
G TMEM240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,721,655...63,727,457
Ensembl chr 6:63,721,656...63,727,526 		JBrowse link
G TMEM52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,969,438...63,974,312
Ensembl chr 6:63,969,440...63,974,286 		JBrowse link
G TMEM88B transmembrane protein 88B ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,686,542...63,689,298
Ensembl chr 6:63,686,546...63,688,456 		JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,516,037...63,519,323
Ensembl chr 6:63,516,045...63,518,405 		JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,523,850...63,526,672
Ensembl chr 6:63,523,804...63,526,666 		JBrowse link
G TP73 tumor protein p73 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,169,770...65,228,997
Ensembl chr 6:65,182,456...65,228,990 		JBrowse link
G TPRG1L tumor protein p63 regulated 1 like ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,150,897...65,154,311
Ensembl chr 6:65,150,903...65,154,429 		JBrowse link
G TTC34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,478,117...64,499,034
Ensembl chr 6:64,478,408...64,499,986 		JBrowse link
G TTLL10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,494,759...63,513,884
Ensembl chr 6:63,497,597...63,511,918 		JBrowse link
G UBE2J2 ubiquitin conjugating enzyme E2 J2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,556,134...63,568,080
Ensembl chr 6:63,555,488...63,568,017 		JBrowse link
G VWA1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,695,195...63,700,296
Ensembl chr 6:63,694,979...63,700,287 		JBrowse link
G WRAP73 WD repeat containing, antisense to TP73 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,155,201...65,167,091
Ensembl chr 6:65,155,209...65,167,079 		JBrowse link
immunodeficiency 69 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFNG interferon gamma ISO ClinVar Annotator: match by term: Immunodeficiency 69 OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:32163377 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670 		JBrowse link
Immunodeficiency 86 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPPL2A signal peptide peptidase like 2A ISO ClinVar Annotator: match by term: Immunodeficiency 86 OMIM
ClinVar		 PMID:23472171 PMID:30127434 NCBI chr 1:121,067,638...121,134,896
Ensembl chr 1:121,067,454...121,134,888 		JBrowse link
Immunodeficiency 88 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBX21 T-box transcription factor 21 susceptibility ISO ClinVar Annotator: match by term: Immunodeficiency 88 ClinVar
OMIM		 PMID:25741868 NCBI chr12:23,996,415...24,009,353
Ensembl chr12:23,996,415...24,009,355 		JBrowse link
Latent Tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 ISO mRNA, protein:increased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human) RGD PMID:29602771 RGD:41404732 NCBI chr 9:93,049,955...93,146,469 JBrowse link
G GPA33 glycoprotein A33 ISO mRNA, protein:decreased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human) RGD PMID:29602771 RGD:41404732 NCBI chr 4:83,904,651...83,943,238
Ensembl chr 4:83,904,915...83,941,563 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase ISO mRNA, protein:increased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human RGD PMID:29602771 RGD:41404732 NCBI chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,734 		JBrowse link
lepromatous leprosy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 severity ISO protein:decreased expression:serum RGD PMID:6342123 RGD:7411735 NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228 		JBrowse link
G CD163 CD163 molecule exacerbates ISO protein:increased expression:blood serum (human) RGD PMID:22851198 PMID:28355218 RGD:127345133 RGD:39939078 NCBI chr 5:63,300,200...63,334,497
Ensembl chr 5:63,300,231...63,334,498 		JBrowse link
G CFB complement factor B severity ISO RGD PMID:6342123 RGD:7411735 NCBI chr 7:24,034,077...24,040,523
Ensembl chr 7:24,033,740...24,041,179 		JBrowse link
G IL27 interleukin 27 ameliorates ISO mRNA:decreased expression:skin of body (human) RGD PMID:26030183 RGD:126790539 NCBI chr 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915 		JBrowse link
G MBL2 mannose binding lectin 2 susceptibility ISO DNA:SNP:cds:161G>A (human) RGD PMID:20650301 RGD:8694069 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083 		JBrowse link
leprosy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BATF3 basic leucine zipper ATF-like transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25642632 NCBI chr 9:130,699,092...130,711,719
Ensembl chr 9:130,699,196...130,712,358 		JBrowse link
G CCDC122 coiled-coil domain containing 122 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:25741868 NCBI chr11:23,159,655...23,199,074
Ensembl chr11:23,159,470...23,198,885 		JBrowse link
G CCDC88B coiled-coil domain containing 88B ISO CTD Direct Evidence: marker/mechanism CTD PMID:25642632 NCBI chr 2:7,767,924...7,784,625 JBrowse link
G CD8A CD8 subunit alpha exacerbates ISO mRNA:increased expression:blood (human) RGD PMID:31784594 RGD:124715449 NCBI chr 3:57,999,228...58,029,768
Ensembl chr 3:57,998,891...58,029,760 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 severity ISO DNA:SNP:promoter:g.-353T>A (rs4073) (human) RGD PMID:30303246 RGD:40400755 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861 		JBrowse link
G IL10 interleukin 10 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:28492532 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378 		JBrowse link
G IL17A interleukin 17A severity ISO mRNA:decreased expression:epidermis (human) RGD PMID:22641009 RGD:8698644 NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153 		JBrowse link
G IL19 interleukin 19 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:28492532 NCBI chr 9:67,469,519...67,479,597
Ensembl chr 9:67,469,524...67,479,813 		JBrowse link
G IL23R interleukin 23 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22019778 NCBI chr 6:145,337,765...145,401,909
Ensembl chr 6:145,335,741...145,401,510 		JBrowse link
G LACC1 laccase domain containing 1 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:25741868 NCBI chr11:23,143,708...23,159,790
Ensembl chr11:23,141,133...23,159,649 		JBrowse link
G LRRK2 leucine rich repeat kinase 2 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:26467025 PMID:28492532 NCBI chr 5:71,800,337...71,945,828
Ensembl chr 5:71,800,225...71,945,828 		JBrowse link
G LTA lymphotoxin alpha susceptibility ISO ClinVar Annotator: match by term: Leprosy, early-onset, susceptibility to OMIM
ClinVar		 PMID:15052269 PMID:17353895 NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,040...23,698,299 		JBrowse link
G MRC1 mannose receptor C-type 1 ISO ClinVar Annotator: match by term: Susceptibility to leprosy and multibacillary leprosy ClinVar PMID:20035344 NCBI chr10:44,107,926...44,226,734
Ensembl chr10:44,107,072...44,226,733 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534 		JBrowse link
G PARL presenilin associated rhomboid like ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr13:121,758,734...121,813,679
Ensembl chr13:121,758,738...121,813,638 		JBrowse link
G PINK1 PTEN induced kinase 1 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr 6:78,863,195...78,884,663
Ensembl chr 6:78,863,190...78,884,640 		JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: LPRS2 ClinVar PMID:10072423 PMID:11558785 PMID:11889248 PMID:12114481 PMID:12730996 More... NCBI chr 1:5,698,508...6,731,132
Ensembl chr 1:5,465,312...6,730,872 		JBrowse link
G RAB32 RAB32, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:22019778 NCBI chr 1:19,076,301...19,097,647
Ensembl chr 1:19,075,271...19,097,870 		JBrowse link
G RIPK2 receptor interacting serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr 4:47,026,558...47,075,133
Ensembl chr 4:47,027,098...47,074,704 		JBrowse link
G SLC11A1 solute carrier family 11 member 1 susceptibility ISO DNA:polymorphisms, haplotype (human)
DNA:repeat:promoter (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:10608779 PMID:15755200 PMID:16597321 RGD:5684957 RGD:5684972 NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396 		JBrowse link
G TLR1 toll like receptor 1 susceptibility ISO ClinVar Annotator: match by term: LPRS1 | ClinVar Annotator: match by term: Leprosy, susceptibility to, 5
DNA:snp:cds:p.I602S (human)		 OMIM
ClinVar
RGD		 PMID:17475868 PMID:17548585 PMID:18461142 PMID:19456232 PMID:23105135 More... RGD:7246917 NCBI chr 8:30,147,600...30,155,454
Ensembl chr 8:30,147,624...30,155,466 		JBrowse link
G TLR2 toll like receptor 2 susceptibility ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 3 OMIM
ClinVar		 PMID:11476982 PMID:12646604 PMID:15726416 PMID:19111445 PMID:25741868 More... NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330 		JBrowse link
G TLR6 toll like receptor 6 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr 8:30,159,744...30,180,650
Ensembl chr 8:30,159,754...30,180,650 		JBrowse link
G TNF tumor necrosis factor susceptibility ISO DNA:SNP:promoter:−308G>A (human) RGD PMID:20650301 RGD:8694069 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
G TNFSF15 TNF superfamily member 15 ISO ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr 1:255,328,731...255,349,508
Ensembl chr 1:255,328,719...255,349,539 		JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25320285 NCBI chr 1:255,436,206...255,459,020
Ensembl chr 1:255,432,969...255,459,073 		JBrowse link
Meningeal Tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL4R interleukin 4 receptor ISO protein:decreased expression:serum RGD PMID:21251883 RGD:5128510 NCBI chr 3:19,526,343...19,576,792
Ensembl chr 3:19,523,564...19,576,544 		JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:10318940 RGD:10449456 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
Multibacillary Leprosy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC11A1 solute carrier family 11 member 1 ISO DNA:insertion/deletion:3' utr (human) RGD PMID:11791966 RGD:5684970 NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396 		JBrowse link
multidrug-resistant tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXP3 forkhead box P3 ISO mRNA:increased expression:peripheral blood: RGD PMID:25483347 RGD:38456003 NCBI chr  X:43,303,777...43,328,164
Ensembl chr  X:43,303,785...43,322,968 		JBrowse link
Mycobacterium avium complex disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO associated with pulmonary diseases; protein:increased expression:serum RGD PMID:19641295 RGD:5686838 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO protein:increased expression:blood plasma, erythrocyte (human) RGD PMID:26300588 RGD:11250849 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861 		JBrowse link
G IL17A interleukin 17A ISO RGD PMID:20797909 RGD:4888520 NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153 		JBrowse link
G TNF tumor necrosis factor ISO associated with HIV Infections RGD PMID:7640175 RGD:10450731 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
Nontuberculous Mycobacterium Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFTR CF transmembrane conductance regulator susceptibility ISO DNA:mutations: :
DNA:SNP:cds:rs113857788(p.Q1352H)(human)		 RGD PMID:18703788 PMID:19858235 PMID:23514810 RGD:36049751 RGD:4140395 RGD:4140430 NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950 		JBrowse link
G IFNGR1 interferon gamma receptor 1 susceptibility ISO DNA:nonsense mutation
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection		 RGD
ClinVar		 PMID:8960473 PMID:9389728 PMID:9536098 PMID:9806040 PMID:10192386 More... RGD:1624283 NCBI chr 1:27,037,151...27,061,095
Ensembl chr 1:27,037,165...27,061,093 		JBrowse link
G IL12B interleukin 12B susceptibility ISO disseminated BCG and Salmonella enteritidis infection, OMIM:209950 DNA:deletion:intron,exon:homozygous 4.4kb deletion encompassing exons 4 and 5 and associated introns
ClinVar Annotator: match by term: Familial Atypical Mycobacteriosis, Autosomal Recessive		 RGD
ClinVar		 PMID:9854038 RGD:1600042 NCBI chr16:64,143,268...64,158,929
Ensembl chr16:64,143,268...64,158,929 		JBrowse link
G IL18 interleukin 18 ISO RGD PMID:21045270 RGD:4889546 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219 		JBrowse link
G IL1R1 interleukin 1 receptor type 1 ISO RGD PMID:16797208 RGD:5037237 NCBI chr 3:52,192,912...52,334,734
Ensembl chr 3:52,192,915...52,288,485 		JBrowse link
G IL20RA interleukin 20 receptor subunit alpha ISO ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183 NCBI chr 1:27,137,545...27,172,341
Ensembl chr 1:27,137,558...27,172,720 		JBrowse link
G IL22RA2 interleukin 22 receptor subunit alpha 2 ISO ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183 NCBI chr 1:27,073,481...27,090,635
Ensembl chr 1:27,073,610...27,091,236 		JBrowse link
G OLIG3 oligodendrocyte transcription factor 3 ISO ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183 NCBI chr 1:26,800,671...26,801,489
Ensembl chr 1:26,800,671...26,801,489 		JBrowse link
G PEX7 peroxisomal biogenesis factor 7 ISO ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183 NCBI chr 1:27,257,872...27,346,529
Ensembl chr 1:27,257,011...27,346,515 		JBrowse link
G SLC35D3 solute carrier family 35 member D3 ISO ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183 NCBI chr 1:27,246,742...27,250,476
Ensembl chr 1:27,246,752...27,250,254 		JBrowse link
G STAT1 signal transducer and activator of transcription 1 susceptibility ISO DNA:transition: ; 2116T>C
ClinVar Annotator: match by term: Familial Atypical Mycobacteriosis, Autosomal Dominant		 RGD
ClinVar		 PMID:11452125 RGD:1600087 NCBI chr15:95,593,201...95,646,324
Ensembl chr15:95,593,211...95,646,260 		JBrowse link
G TNFAIP3 TNF alpha induced protein 3 ISO ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183 NCBI chr 1:26,474,158...26,489,771
Ensembl chr 1:26,473,938...26,489,822 		JBrowse link
ocular tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL10 interleukin 10 ISO protein:increased expression:aqueous humor RGD PMID:22583692 RGD:7364832 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378 		JBrowse link
Paratuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1R complement C1r ISO CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chr 5:63,644,097...63,655,149
Ensembl chr 5:63,643,374...63,655,143 		JBrowse link
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228 		JBrowse link
G F2 coagulation factor II, thrombin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,455...15,819,137 		JBrowse link
G GSN gelsolin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chr 1:261,295,711...261,372,848
Ensembl chr 1:261,307,008...261,372,848 		JBrowse link
G LOC110256000 membrane primary amine oxidase-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chr12:19,996,324...20,007,006 JBrowse link
G TF transferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chr13:74,930,655...74,970,599
Ensembl chr13:74,930,655...74,972,763 		JBrowse link
pleural tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA adenosine deaminase ISO protein:increased expression:serum:
protein:increased activity:serum:
protein:increased activity:pleural fluid:		 RGD PMID:1689629 PMID:1818842 PMID:18357489 PMID:21860532 RGD:152995280 RGD:152995288 RGD:152995292 RGD:152998934 NCBI chr17:47,044,492...47,072,232
Ensembl chr17:47,044,497...47,072,245 		JBrowse link
G ADA2 adenosine deaminase 2 treatment ISO RGD PMID:8656037 RGD:152995258 NCBI chr 5:69,526,413...69,554,640
Ensembl chr 5:69,526,435...69,554,661 		JBrowse link
G CCL22 C-C motif chemokine ligand 22 ISO RGD PMID:20337996 RGD:4891473 NCBI chr 6:19,296,726...19,301,506
Ensembl chr 6:19,296,637...19,302,737 		JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO RGD PMID:19159432 RGD:4145106 NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,285,012...29,376,343 		JBrowse link
G CCR5 C-C motif chemokine receptor 5 ISO protein:increased expression:pleural fluid, natural killer cell (human) RGD PMID:19159432 RGD:4145106 NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895 		JBrowse link
G FOXP3 forkhead box P3 disease_progression ISO associated with human immunodeficiency virus infectious disease; RGD PMID:21303360 RGD:36947878 NCBI chr  X:43,303,777...43,328,164
Ensembl chr  X:43,303,785...43,322,968 		JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO DNA:repeat (human) RGD PMID:10377182 RGD:4143226
G IL27 interleukin 27 exacerbates ISO protein:increased expression:alveolar system (human)
associated with Pleural Effusion;protein:increased expression:pleural fluid (human)		 RGD PMID:23962500 PMID:25753767 PMID:28844060 PMID:31819557 RGD:126790505 RGD:126790517 RGD:126790523 RGD:126790549 NCBI chr 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915 		JBrowse link
G IL33 interleukin 33 ISO protein:increased expression:pleural fluid: RGD PMID:23301222 RGD:39939042 NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840 		JBrowse link
G LOC110258578 interleukin-1 beta-like ISO DNA:polymorphism: :3953T>C (human) RGD PMID:10377182 RGD:4143226
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:pleura: RGD PMID:18715875 RGD:5129700 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G TLR4 toll like receptor 4 ISO RGD PMID:18295348 RGD:4144193 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970 		JBrowse link
G TNC tenascin C ISO protein:increased expression:pleura RGD PMID:10950882 RGD:4889594 NCBI chr 1:255,533,235...255,630,381
Ensembl chr 1:255,533,238...255,630,376 		JBrowse link
pulmonary tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 treatment ISO DNA:SNP: :2677G>A (human) RGD PMID:26067842 RGD:11098541 NCBI chr 9:93,049,955...93,146,469 JBrowse link
G ADA adenosine deaminase ISO protein:increased expression:plasma, respiratory system fluid/secretion
protein:increased activity:blood, pulmonary alveolar duct
protein:increased activity:sputum:		 RGD PMID:2212911 PMID:12194640 PMID:19460251 RGD:152995271 RGD:152995390 RGD:5128854 NCBI chr17:47,044,492...47,072,232
Ensembl chr17:47,044,497...47,072,245 		JBrowse link
G ADA2 adenosine deaminase 2 ISO protein:increased activity:sputum: RGD PMID:19460251 RGD:152995271 NCBI chr 5:69,526,413...69,554,640
Ensembl chr 5:69,526,435...69,554,661 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:increased expression:plasma RGD PMID:22022605 RGD:5686405 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 susceptibility ISO DNA:SNP,haplotype:intron: IVS3+18 C/C (human) RGD PMID:20141546 RGD:38676498
G ALOX5 arachidonate 5-lipoxygenase susceptibility ISO DNA:polymorphism, repeat:promoter, exon:g.760G>A (human) RGD PMID:18174194 RGD:4890411 NCBI chr14:90,859,209...90,907,084
Ensembl chr14:90,859,016...90,907,094 		JBrowse link
G AMCF-II alveolar macrophage-derived chemotactic factor-II susceptibility ISO mRNA:increased expression:lung RGD PMID:16790804 RGD:5135246 NCBI chr 8:70,008,225...70,010,360
Ensembl chr 8:70,008,162...70,010,358 		JBrowse link
G ASAP1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25774636 NCBI chr 4:10,103,860...10,451,928
Ensembl chr 4:10,179,758...10,451,929 		JBrowse link
G ATF3 activating transcription factor 3 ISO mRNA,protein:increased expression:lung RGD PMID:20856677 RGD:34888225 NCBI chr 9:130,772,259...130,829,678
Ensembl chr 9:130,772,262...130,785,506 		JBrowse link
G C3 complement C3 ISO RGD PMID:19472039 RGD:5129500 NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228 		JBrowse link
G CCL1 C-C motif chemokine ligand 1 susceptibility ISO mRNA:increased expression:lung, dendritic cell
DNA:SNP: :multiple (human)		 RGD PMID:18703681 PMID:19057661 RGD:4891408 RGD:4891409 NCBI chr12:40,728,014...40,731,411
Ensembl chr12:40,728,014...40,731,411 		JBrowse link
G CCL19 C-C motif chemokine ligand 19 ISO mRNA:increased expression:lung RGD PMID:19933855 RGD:5130906 NCBI chr10:32,110,366...32,112,529
Ensembl chr10:32,110,065...32,112,734 		JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 susceptibility ISO DNA:polymorphism: :-2518A>G (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:16352737 PMID:18940815 PMID:20111728 RGD:4891439 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026 		JBrowse link
G CCL5 C-C motif chemokine ligand 5 susceptibility ISO DNA:snps:5' utr:g.-403G>A rs2280788, g.-28C>G rs2107538 (human)
mRNA:increased expression:lung (human)		 RGD PMID:15128813 PMID:19335954 RGD:4891879 RGD:4892112 NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118 		JBrowse link
G CCR2 C-C motif chemokine receptor 2 disease_progression ISO RGD PMID:11438742 RGD:734715 NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,285,012...29,376,343 		JBrowse link
G CCR5 C-C motif chemokine receptor 5 ISO protein:decreased expression:blood, T cell (human) RGD PMID:16379602 RGD:4892094 NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895 		JBrowse link
G CD14 CD14 molecule susceptibility ISO protein:increased expression:monocyte, serum
DNA:polymorphism:promoter:c. -159C>T (human)		 RGD PMID:18008256 RGD:4144205 NCBI chr 2:142,348,036...142,349,686
Ensembl chr 2:142,346,360...142,349,581 		JBrowse link
G CD163 CD163 molecule exacerbates ISO protein:increased expression:blood plasma, CD14-positive monocyte (human)
protein:increased expression:blood serum (human)		 RGD PMID:27684274 PMID:27685837 RGD:127285801 RGD:127345136 NCBI chr 5:63,300,200...63,334,497
Ensembl chr 5:63,300,231...63,334,498 		JBrowse link
G CD1D CD1d molecule susceptibility ISO DNA:SNPS, haplotype:intron, enhancer: (rs859009,rs859010, rs973742) (human) RGD PMID:30972222 RGD:127345096 NCBI chr 4:92,096,670...92,101,177
Ensembl chr 4:92,094,700...92,101,095 		JBrowse link
G CD209 CD209 molecule susceptibility ISO CTD Direct Evidence: marker/mechanism
associated with HIV Seropositivity; DNA:SNP:promoter: -336A>G (rs4804803) (human)
DNA:SNPs:promoter:-139G>A, -336A>G, -871A>G (rs2287886,rs4804803,rs735239) (human)		 CTD
RGD		 PMID:16379498 PMID:19126442 PMID:24874302 RGD:39938981 RGD:39939062 NCBI chr 2:71,394,414...71,397,711
Ensembl chr 2:71,394,391...71,397,968 		JBrowse link
G CD274 CD274 molecule ISO protein:increased expression:Tcell, B cell, monocyte RGD PMID:23661793 RGD:40818418 NCBI chr 1:216,646,378...216,792,731
Ensembl chr 1:216,660,041...216,792,724 		JBrowse link
G CD36 CD36 molecule susceptibility ISO DNA:SNPs: :rs1194182, rs10499859(human) RGD PMID:28693442 RGD:41412192 NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105 		JBrowse link
G CD86 CD86 molecule ISO protein:decreased expression:sputum, macrophage (human) RGD PMID:17713660 RGD:4892339 NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,533...138,504,310 		JBrowse link
G CRP C-reactive protein, pentraxin-related severity ISO associated with HIV Infections RGD PMID:21197091 PMID:21219690 RGD:5131284 RGD:5131287 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218 		JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 treatment ISO RGD PMID:29843631 RGD:27095956 NCBI chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948 		JBrowse link
G CXCL2 chemokine (C-X-C motif) ligand 2 disease_progression ISO RGD PMID:20454613 RGD:5135037 NCBI chr 8:70,157,253...70,159,145
Ensembl chr 8:70,157,214...70,159,138 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 exacerbates ISO protein:increased expression:serum (human)
RNA:increased expression:blood plasma (human)		 RGD PMID:16001981 PMID:27434276 RGD:150523784 RGD:39939055 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861 		JBrowse link
G CYBA cytochrome b-245 alpha chain no_association ISO DNA:SNPs:exons:214C>T (rs4673), 521C>T (rs17845095) (human) RGD PMID:16608528 RGD:4780358 NCBI chr 6:1,015,212...1,021,422
Ensembl chr 6:1,015,162...1,021,420 		JBrowse link
G DDIT3 DNA damage inducible transcript 3 ISO mRNA,protein:increased expression:lung RGD PMID:20856677 RGD:34888225 NCBI chr 5:22,785,441...22,789,867
Ensembl chr 5:22,785,445...22,789,829 		JBrowse link
G EGFR epidermal growth factor receptor disease_progression ISO associated with lung adenocarcinoma; RGD PMID:22173705 PMID:29621876 RGD:38599162 RGD:38599176 NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589 		JBrowse link
G EREG epiregulin susceptibility ISO DNA:SNP:exon 4: (rs2367707) (human) RGD PMID:30634928 RGD:39457687 NCBI chr 8:70,351,316...70,372,530
Ensembl chr 8:70,351,311...70,372,569 		JBrowse link
G FOXP3 forkhead box P3 susceptibility ISO DNA:polymorphism:promoter:-924A>G(human) RGD PMID:29020928 RGD:38501101 NCBI chr  X:43,303,777...43,328,164
Ensembl chr  X:43,303,785...43,322,968 		JBrowse link
G GBE1 1,4-alpha-glucan branching enzyme 1 ISO DNA:SNP:intron:rs2307058 (human) RGD PMID:28355295 RGD:18337291 NCBI chr13:173,634,401...173,909,646
Ensembl chr13:173,634,454...173,914,756 		JBrowse link
G HAVCR2 hepatitis A virus cellular receptor 2 ISO RGD PMID:21382414 RGD:5135524 NCBI chr16:66,138,157...66,160,568
Ensembl chr16:66,139,535...66,160,538 		JBrowse link
G IDO1 indoleamine 2,3-dioxygenase 1 treatment ISO RGD PMID:32369456 RGD:39939073 NCBI chr17:9,245,283...9,260,140
Ensembl chr17:9,245,196...9,260,473 		JBrowse link
G IL13 interleukin 13 ISO mRNA:increased expression:Leukocytes, Mononuclear RGD PMID:10608794 RGD:4145649 NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093 		JBrowse link
G IL15 interleukin 15 ISO mRNA, protein:increased expression:lung RGD PMID:11742275 RGD:4990461 NCBI chr 8:85,666,963...85,740,980
Ensembl chr 8:85,667,321...85,678,461 		JBrowse link
G IL18 interleukin 18 ISO protein:increased expression:serum RGD PMID:15955140 RGD:4889836 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219 		JBrowse link
G IL1A interleukin 1 alpha ISO RGD PMID:9176116 RGD:4142835 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119 		JBrowse link
G IL1RL1 interleukin 1 receptor like 1 ISO RGD PMID:28128217 RGD:39938965 NCBI chr 3:51,868,549...51,902,454
Ensembl chr 3:51,846,792...51,951,383 		JBrowse link
G IL1RN interleukin 1 receptor antagonist severity ISO protein:increased expression:lung, serum RGD PMID:10543265 PMID:10631206 PMID:14619382 RGD:4143174 RGD:4143179 RGD:4143180
G IL23A interleukin 23 subunit alpha ISO mRNA:increased expression:lung (mouse) RGD PMID:11801672 PMID:16002675 PMID:20624887 PMID:21156751 RGD:39457949 RGD:39457953 RGD:39458036 RGD:39458038 NCBI chr 5:21,732,416...21,733,981
Ensembl chr 5:21,732,165...21,734,267 		JBrowse link
G IL27 interleukin 27 exacerbates ISO DNA:SNPs:promoter, exon:-964A>G, 2905T>G (human)
DNA:SNPs:promoter,exons:-964A>G, 2905T>G, 4730T>C (rs153109, rs17855750, rs181206) (human)		 RGD PMID:30948177 PMID:31949807 RGD:126790508 RGD:39456132 NCBI chr 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915 		JBrowse link
G IL27RA interleukin 27 receptor subunit alpha ISO RGD PMID:15749890 RGD:5128486 NCBI chr 2:65,127,278...65,149,665
Ensembl chr 2:65,127,287...65,149,740 		JBrowse link
G IL33 interleukin 33 ISO RGD PMID:28128217 RGD:39938965 NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840 		JBrowse link
G IL4 interleukin 4 severity ISO RGD PMID:20832364 RGD:5128550 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365 		JBrowse link
G IL4R interleukin 4 receptor ISO protein:decreased expression:serum RGD PMID:21251883 RGD:5128510 NCBI chr 3:19,526,343...19,576,792
Ensembl chr 3:19,523,564...19,576,544 		JBrowse link
G IL6 interleukin 6 ISO RGD PMID:20624776 RGD:4143257 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263 		JBrowse link
G IL6R interleukin 6 receptor ISO protein:decreased expression:T cell RGD PMID:20019339 RGD:5128632 NCBI chr 4:95,322,426...95,381,393
Ensembl chr 4:95,322,433...95,381,282 		JBrowse link
G IRF1 interferon regulatory factor 1 ISO RGD PMID:11083808 RGD:5128719 NCBI chr 2:134,776,122...134,783,646
Ensembl chr 2:134,776,129...134,783,801 		JBrowse link
G ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 ISO protein:increased expression:urine RGD PMID:29636444 RGD:40903003 NCBI chr13:34,928,455...34,948,250
Ensembl chr13:34,928,439...34,948,229 		JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit ISO protein:decreased phosphorylation:macrophage, nucleus RGD PMID:19737230 RGD:4889999 NCBI chr 6:153,686,425...153,687,635
Ensembl chr 6:153,685,682...153,687,636 		JBrowse link
G LCN2 lipocalin 2 disease_progression
exacerbates		 ISO RGD PMID:19050270 PMID:30534124 RGD:126779558 RGD:126779565 NCBI chr 1:268,609,975...268,614,651
Ensembl chr 1:268,609,887...268,614,644 		JBrowse link
G LOC110258578 interleukin-1 beta-like severity
susceptibility		 ISO protein:increased expression:lung
DNA:polymorphism: :3953T>C (human)
protein:increased expression:bronchioalveolar lavage fluid (human)		 RGD PMID:10543265 PMID:10631206 PMID:16634865 RGD:4143179 RGD:4143180 RGD:5147843
G LTA lymphotoxin alpha susceptibility ISO DNA:polymorphism:intron:252G>A (human) RGD PMID:20180006 RGD:4143234 NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,040...23,698,299 		JBrowse link
G MARCO macrophage receptor with collagenous structure susceptibility ISO DNA:SNPs: :rs2278589, rs6751745,rs6748401 (human)
DNA:SNP: :rs12998782(human)
DNA:SNPs:introns:rs4491733,rs12998782,rs13389814,rs7559955 (human)		 RGD PMID:23617307 PMID:27853145 PMID:28693442 RGD:41412192 RGD:41412194 RGD:41412195 NCBI chr15:24,502,935...24,541,286
Ensembl chr15:24,503,108...24,541,283 		JBrowse link
G MBL2 mannose binding lectin 2 ISO DNA:polymorphisms:5' utr, exon:multiple (human) RGD PMID:19199550 RGD:4889452 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083 		JBrowse link
G MIF macrophage migration inhibitory factor susceptibility ISO DNA:SNP: :rs755622 (human) RGD PMID:20439102 RGD:4891004 NCBI chr14:49,840,303...49,841,063
Ensembl chr14:49,840,305...49,841,068 		JBrowse link
G MIR30A microRNA mir-30a disease_progression ISO RGD PMID:25866116 RGD:35668864 NCBI chr 1:51,412,827...51,412,933
Ensembl chr 1:51,412,827...51,412,933 		JBrowse link
G MMP3 matrix metallopeptidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24890593 NCBI chr 9:33,446,969...33,453,995
Ensembl chr 9:33,446,836...33,454,000 		JBrowse link
G MMP7 matrix metallopeptidase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24890593 NCBI chr 9:33,214,590...33,225,080
Ensembl chr 9:33,214,594...33,225,080 		JBrowse link
G MMP8 matrix metallopeptidase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24890593 NCBI chr 9:33,384,034...33,397,637
Ensembl chr 9:33,384,033...33,396,947 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:16982845 RGD:5130746 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G NFKBIA NFKB inhibitor alpha ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:9379002 RGD:126908014 NCBI chr 7:64,508,119...64,510,754
Ensembl chr 7:64,507,822...64,511,277 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 susceptibility ISO DNA:SNPs:CDs:p.P268S, R702W, A725G (human) RGD PMID:18419343 RGD:5131510 NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO DNA:SNPs:multiple (human) RGD PMID:19575238 RGD:4144122 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146 		JBrowse link
G PDCD1 programmed cell death 1 treatment ISO protein:increased expression:Tcell, B cell, monocyte RGD PMID:23661793 RGD:40818418 NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,258...140,347,478 		JBrowse link
G PDCD1LG2 programmed cell death 1 ligand 2 ISO protein:increased expression:Tcell, B cell, monocyte RGD PMID:23661793 RGD:40818418 NCBI chr 1:216,564,428...216,600,333
Ensembl chr 1:216,553,105...216,657,170 		JBrowse link
G PLAUR plasminogen activator, urokinase receptor severity ISO RGD PMID:18359089 RGD:6483832 NCBI chr 6:50,489,773...50,505,453
Ensembl chr 6:50,489,777...50,505,418 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 ISO DNA:SNPs:cds:788G>A, 1858C>T (human) RGD PMID:19563523 RGD:6484723 NCBI chr 4:106,692,102...106,758,101
Ensembl chr 4:106,686,604...106,758,099 		JBrowse link
G SFTPA1 surfactant protein A1 susceptibility ISO DNA:SNP:intron:1416C>T (human)
DNA:SNPs:exons:307G>A, 776C>T (human)		 RGD PMID:12476938 PMID:16292672 RGD:4144874 RGD:4144875 NCBI chr14:82,091,178...82,095,393
Ensembl chr14:82,091,178...82,095,393 		JBrowse link
G SLC11A1 solute carrier family 11 member 1 susceptibility ISO DNA:polymorphism:intron (human)
DNA:deletion:3'UTR:		 RGD PMID:21169917 PMID:24024195 RGD:36049753 RGD:5684974 NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396 		JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member ISO associated with HIV Infections; RGD PMID:21843574 RGD:6482248 NCBI chr 7:25,062,772...25,071,989
Ensembl chr 7:25,062,771...25,074,843 		JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:polymorphism: : RGD PMID:9062973 RGD:5147851 NCBI chr 7:25,045,085...25,056,915
Ensembl chr 7:25,045,685...25,056,300 		JBrowse link
G TLR1 toll like receptor 1 ISO mRNA:increased expression:blood RGD PMID:16493059 RGD:4889525 NCBI chr 8:30,147,600...30,155,454
Ensembl chr 8:30,147,624...30,155,466 		JBrowse link
G TLR2 toll like receptor 2 susceptibility ISO DNA:polymorphism:intron (human)
DNA:SNP: :rs1816702 (human)
DNA:polymorphisms: :multiple (human)
mRNA, protein:increased expression:blood, T cell		 RGD PMID:19552525 PMID:19723394 PMID:20113509 PMID:20298136 RGD:4145304 RGD:4145320 RGD:4145323 RGD:4145355 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330 		JBrowse link
G TLR4 toll like receptor 4 severity
susceptibility		 ISO protein:increased expression:monocyte
DNA:polymorphisms:cds: p. D299F, T399I (human)
DNA:SNP:intron: rs5030729 (human)		 RGD PMID:18008256 PMID:19575238 PMID:20403143 RGD:4144106 RGD:4144122 RGD:4144205 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970 		JBrowse link
G TLR9 toll like receptor 9 ISO DNA:snps:multiple (human) RGD PMID:19771452 RGD:5130704 NCBI chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673 		JBrowse link
G TNF tumor necrosis factor susceptibility
disease_progression		 ISO DNA:polymorphisms::c.-857 C>T, c. -863 A>C (human) RGD PMID:9176116 PMID:18212516 PMID:20650298 RGD:4142835 RGD:4143388 RGD:4143395 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
G TREM1 triggering receptor expressed on myeloid cells 1 disease_progression ISO RGD PMID:29844416 RGD:126925977 NCBI chr 7:36,510,253...36,531,796
Ensembl chr 7:36,510,253...36,531,796 		JBrowse link
G VDR vitamin D receptor susceptibility ISO DNA:SNPs:5' UTR (human)
DNA:SNPs:promoter, 3' UTR (human)
DNA:SNPs (human)
DNA:SNP (human)		 RGD PMID:15295697 PMID:17236578 PMID:18231846 PMID:18397302 PMID:20231985 RGD:4889830 RGD:4889842 RGD:4889845 RGD:4889849 RGD:4889853 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475 		JBrowse link
renal tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL4R interleukin 4 receptor ISO protein:decreased expression:serum
DNA:polymorphism:cds:p.I50V (human)		 RGD PMID:19548368 PMID:21251883 RGD:5128510 RGD:7207069 NCBI chr 3:19,526,343...19,576,792
Ensembl chr 3:19,523,564...19,576,544 		JBrowse link
Silicotuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STING1 stimulator of interferon response cGAMP interactor 1 severity ISO RGD PMID:31141689 RGD:39128194 NCBI chr 2:141,359,402...141,367,222
Ensembl chr 2:141,358,993...141,367,198 		JBrowse link
tuberculoid leprosy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:polymorphism: : RGD PMID:9062973 RGD:5147851 NCBI chr 7:25,045,085...25,056,915
Ensembl chr 7:25,045,685...25,056,300 		JBrowse link
tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGER advanced glycosylation end-product specific receptor severity ISO RGD PMID:22698798 RGD:6767307 NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162 		JBrowse link
G BTNL2 butyrophilin like 2 susceptibility
no_association		 ISO DNA:SNPs,haplotypes: : rs3763313, rs9268494, rs9268492(human) RGD PMID:17347014 PMID:20176143 RGD:9685035 RGD:9685036 NCBI chr 7:24,789,988...24,809,920
Ensembl chr 7:24,790,614...24,807,432 		JBrowse link
G CBS cystathionine beta-synthase severity ISO protein:increased expression:macrophages (mouse) RGD PMID:31992699 RGD:40903052 NCBI chr13:206,205,942...206,231,363
Ensembl chr13:206,205,946...206,230,248 		JBrowse link
G CCL1 C-C motif chemokine ligand 1 susceptibility ISO DNA:SNP: :rs159294, rs210837, rs10491110 (human) RGD PMID:19057661 RGD:4891408 NCBI chr12:40,728,014...40,731,411
Ensembl chr12:40,728,014...40,731,411 		JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to ClinVar PMID:11500196 PMID:15466648 PMID:16352737 PMID:16596675 PMID:18940815 More... NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026 		JBrowse link
G CCL4 C-C motif chemokine ligand 4 severity ISO associated with human immunodeficiency virus infectious disease;protein:increased expression:blood plasma (human) RGD PMID:31276515 RGD:41404639 NCBI chr12:39,479,190...39,480,511
Ensembl chr12:39,478,882...39,481,082 		JBrowse link
G CD209 CD209 molecule susceptibility ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to ClinVar
OMIM		 PMID:15564514 PMID:15838506 PMID:16379498 PMID:25741868 NCBI chr 2:71,394,414...71,397,711
Ensembl chr 2:71,394,391...71,397,968 		JBrowse link
G CD274 CD274 molecule ISO mRNA, protein:increased expression:blood, neutrophil RGD PMID:21509782 RGD:41412173 NCBI chr 1:216,646,378...216,792,731
Ensembl chr 1:216,660,041...216,792,724 		JBrowse link
G CD86 CD86 molecule ISO protein:increased expression:lung (mouse) RGD PMID:18292558 RGD:4892329 NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,533...138,504,310 		JBrowse link
G CD8A CD8 subunit alpha susceptibility ISO associated with human immunodeficiency virus infectious disease;mRNA:increased expression:whole blood (human)
mRNA:decreased expression:blood (human)		 RGD PMID:26725873 PMID:27553407 RGD:124715445 RGD:124715450 NCBI chr 3:57,999,228...58,029,768
Ensembl chr 3:57,998,891...58,029,760 		JBrowse link
G CEBPB CCAAT enhancer binding protein beta ISO mRNA:increased expression:lung, spleen (mouse) RGD PMID:28558034 RGD:40903038 NCBI chr17:51,722,633...51,723,673
Ensembl chr17:51,722,426...51,724,305 		JBrowse link
G CIITA class II major histocompatibility complex transactivator susceptibility ISO knockouts show increased susceptibility to infection by all available criteria including mycobacterial growth, lung damage and survival time RGD PMID:12828554 RGD:5491205 NCBI chr 3:32,171,706...32,230,775
Ensembl chr 3:32,172,214...32,230,780 		JBrowse link
G CISH cytokine inducible SH2 containing protein susceptibility ISO ClinVar Annotator: match by term: Tuberculosis, susceptibility to OMIM
ClinVar		 PMID:20484391 NCBI chr13:33,086,280...33,090,540
Ensembl chr13:33,085,286...33,090,858 		JBrowse link
G CORO1A coronin 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16040207 NCBI chr 3:18,336,813...18,342,381
Ensembl chr 3:18,336,898...18,342,396 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 susceptibility ISO DNA:SNP:promoter:-251A>T (human)
protein:increased expression:blood plasma, erythrocyte (human)		 RGD PMID:26300588 PMID:32393145 RGD:11250849 RGD:150520198 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861 		JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 ISO protein:increased expression:serum RGD PMID:19281538 RGD:5135308 NCBI chr 8:71,665,541...71,670,236
Ensembl chr 8:71,663,501...71,670,271 		JBrowse link
G CYP2B6B cytochrome P450 family 2 subfamily B member 6B treatment ISO DNA:SNPs: :c.516G>T (rs3745274) and c.785A>G (rs2279343)(human)
associated with human immunodeficiency virus infectious disease; ;DNA:SNP: :516G>T (rs3745274)(human)		 RGD PMID:28389387 PMID:30239753 RGD:41410886 RGD:41412160 NCBI chr 6:49,158,175...49,173,872
Ensembl chr 6:49,110,812...49,178,334 		JBrowse link
G CYP2C49 cytochrome P450 2C49 treatment ISO DNA:polymorphisms:: CYP2C19*17(rs12248560),CYP2C19*2 (c.681C>A; rs4244285)(human) RGD PMID:27393733 RGD:124713542 NCBI chr14:106,571,803...106,612,082
Ensembl chr14:106,285,173...106,612,455 		JBrowse link
G EREG epiregulin susceptibility ISO DNA:SNP:intron: (rs7675690) (human) RGD PMID:22170233 RGD:39457686 NCBI chr 8:70,351,316...70,372,530
Ensembl chr 8:70,351,311...70,372,569 		JBrowse link
G HAS1 hyaluronan synthase 1 ISO RGD PMID:19876387 RGD:9588638 NCBI chr 6:58,303,274...58,313,486
Ensembl chr 6:58,302,799...58,313,486 		JBrowse link
G HP haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr 6:14,980,382...14,985,245 JBrowse link
G IFNG interferon gamma ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, protection against ClinVar
OMIM		 PMID:10663562 PMID:11053629 PMID:12788577 PMID:18414898 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670 		JBrowse link
G IFNGR1 interferon gamma receptor 1 ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, protection against | ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to OMIM
ClinVar		 PMID:9389728 PMID:10192386 PMID:11583830 PMID:12516030 PMID:16195661 More... NCBI chr 1:27,037,151...27,061,095
Ensembl chr 1:27,037,165...27,061,093 		JBrowse link
G IL12RB1 interleukin 12 receptor subunit beta 1 ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to ClinVar PMID:9603733 PMID:12591909 PMID:28492532 NCBI chr 2:59,707,958...59,736,282
Ensembl chr 2:59,707,961...59,736,282 		JBrowse link
G IL15 interleukin 15 ISO mRNA:altered expression:lung, spleen RGD PMID:16367949 RGD:4987456 NCBI chr 8:85,666,963...85,740,980
Ensembl chr 8:85,667,321...85,678,461 		JBrowse link
G IL22 interleukin 22 ISO RGD PMID:21767990 RGD:5147402 NCBI chr 5:32,599,522...32,604,507
Ensembl chr 5:32,599,471...32,604,513 		JBrowse link
G IL27 interleukin 27 exacerbates ISO associated with Pleural Effusion;protein:increased expression:pleural effusion (human)
mRNA:increased expression:blood (human)		 RGD PMID:25511588 PMID:26282876 RGD:11086047 RGD:126790514 NCBI chr 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915 		JBrowse link
G IL33 interleukin 33 ISO associated with Pleural Effusion;protein:increased expression:pleural biopsy RGD PMID:25755791 RGD:40400701 NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840 		JBrowse link
G IRAK3 interleukin 1 receptor associated kinase 3 ISO mRNA, protein:increased expression:sputum (human) RGD PMID:19535630 RGD:36049800 NCBI chr 5:30,524,704...30,601,067
Ensembl chr 5:30,526,793...30,609,921 		JBrowse link
G KLRK1 killer cell lectin like receptor K1 treatment ISO RGD PMID:16619285 PMID:23922903 RGD:39018558 RGD:39128143 NCBI chr 5:61,646,691...61,655,386
Ensembl chr 5:61,647,043...61,656,192 		JBrowse link
G MAPKAPK3 MAPK activated protein kinase 3 ISO ClinVar Annotator: match by term: Tuberculosis, susceptibility to ClinVar PMID:20484391 NCBI chr13:33,097,329...33,125,820
Ensembl chr13:33,097,393...33,125,818 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 treatment ISO DNA:SNPs,haplotype: :rs4243387,rs2001350,rs6726395(human) RGD PMID:31586142 RGD:42722614 NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,656...83,146,183 		JBrowse link
G NRG1 neuregulin 1 susceptibility ISO DNA:SNP, haplotype: (rs16879814) RGD PMID:25919455 RGD:39456091 NCBI chr15:52,625,550...53,688,003
Ensembl chr15:52,630,679...52,839,505 		JBrowse link
G PDCD1 programmed cell death 1 treatment ISO RGD PMID:27865385 RGD:41412174 NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,258...140,347,478 		JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO RGD PMID:30514491 RGD:38599199 NCBI chr 9:106,698,200...106,748,217
Ensembl chr 9:106,698,207...106,745,099 		JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 exacerbates ISO RGD PMID:29892302 RGD:127229926 NCBI chr 7:74,951,145...74,955,255
Ensembl chr 7:74,951,145...74,955,251 		JBrowse link
G SLC11A1 solute carrier family 11 member 1 susceptibility ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to | ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to infection by OMIM
ClinVar		 PMID:16103355 PMID:25741868 NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396 		JBrowse link
G SP110 SP110 nuclear body protein ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to ClinVar
OMIM		 PMID:16803959 PMID:16816019 PMID:17149599 PMID:24033266 PMID:25741868 More... NCBI chr15:131,169,911...131,226,543
Ensembl chr15:131,169,917...131,226,544 		JBrowse link
G SP140 SP140 nuclear body protein ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to ClinVar PMID:16803959 PMID:16816019 PMID:17149599 PMID:25741868 PMID:28492532 NCBI chr15:131,225,305...131,292,172
Ensembl chr15:131,226,626...131,292,170 		JBrowse link
G SPP1 secreted phosphoprotein 1 ISO RGD PMID:15863395 RGD:1581371 NCBI chr 8:131,077,786...131,085,334
Ensembl chr 8:131,077,786...131,085,340 		JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 ISO RGD PMID:29791904 RGD:39128196 NCBI chr 2:141,359,402...141,367,222
Ensembl chr 2:141,358,993...141,367,198 		JBrowse link
G TIRAP TIR domain containing adaptor protein ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to ClinVar
OMIM		 PMID:16991088 PMID:17322885 PMID:18305471 PMID:25741868 NCBI chr 9:53,374,559...53,394,172
Ensembl chr 9:53,375,644...53,394,165 		JBrowse link
G TLR1 toll like receptor 1 susceptibility ISO DNA:snps, haplotype:cds:p.N248S, p.S602I (human) RGD PMID:18091991 RGD:7246918 NCBI chr 8:30,147,600...30,155,454
Ensembl chr 8:30,147,624...30,155,466 		JBrowse link
G TLR2 toll like receptor 2 susceptibility ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to OMIM
ClinVar		 PMID:14979495 PMID:16081826 PMID:22992740 PMID:25741868 PMID:28492532 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330 		JBrowse link
G TLR4 toll like receptor 4 ISO RGD PMID:12218133 RGD:4144821 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970 		JBrowse link
G TLR6 toll like receptor 6 susceptibility ISO DNA:missense mutations:cds:multiple (human) RGD PMID:18091991 RGD:7246918 NCBI chr 8:30,159,744...30,180,650
Ensembl chr 8:30,159,754...30,180,650 		JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:serum RGD PMID:20537163 RGD:4143229 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO DNA:snp:3' utr:g.*215C>T rs3397 (human) RGD PMID:20007930 RGD:5131209 NCBI chr 6:72,195,420...72,231,146
Ensembl chr 6:72,195,435...72,231,147 		JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30202016 NCBI chr 1:255,436,206...255,459,020
Ensembl chr 1:255,432,969...255,459,073 		JBrowse link
G VDR vitamin D receptor susceptibility ISO associated with HIV Infections;DNA:SNPs:3' UTR (human) RGD PMID:18712587 RGD:4889839 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    disease by infectious agent 2090
      Bacterial Infections and Mycoses 998
        bacterial infectious disease 792
          Gram-Positive Bacterial Infections 383
            Actinomycetales Infections 310
              Mycobacterium Infections 309
                Immunodeficiency 86 1
                Immunodeficiency 88 1
                Nontuberculous Mycobacterium Infections + 156
                Paratuberculosis 6
                immunodeficiency 31B 19
                leprosy + 32
                tuberculosis + 119
paths to the root