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RGD DISEASE ONTOLOGY - ANNOTATIONS

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


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Mycobacterium Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme IEP associated with pulmonary sarcoidosis;protein:increased expression:blood serum (human) RGD PMID:15881283 RGD:40818305 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380 		JBrowse link
G CD36 CD36 molecule (CD36 blood group) ISO RGD PMID:20950462 RGD:6893545 NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277 		JBrowse link
G DEFB4A defensin beta 4A IEP protein:increased expression:plasma, respiratory system fluid/secretion RGD PMID:11296379 RGD:4892261 NCBI chr 8:7,894,677...7,896,716
Ensembl chr 8:7,894,677...7,896,716
Ensembl chr 8:7,894,677...7,896,716 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP associated with pulmonary sarcoidosis RGD PMID:15881283 RGD:40818305 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G IFNG interferon gamma ISO associated with Diabetes Mellitus, Insulin-Dependent;mRNA:increased expression:lung RGD PMID:19060451 RGD:2311490 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G IFNGR1 interferon gamma receptor 1 IAGP DNA: missense mutations: cds: I87T; V63G
DNA: mutation		 RGD PMID:21266457 PMID:15589309 RGD:6480268, RGD:6480429 NCBI chr 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449 		JBrowse link
G IL22 interleukin 22 IMP RGD PMID:19864591 RGD:5147407 NCBI chr12:68,248,242...68,253,604
Ensembl chr12:68,248,242...68,253,604 		JBrowse link
G IL32 interleukin 32 ameliorates IMP human gene in a mouse model RGD PMID:25820174 RGD:150340726 NCBI chr16:3,065,403...3,069,530
Ensembl chr16:3,065,297...3,082,192 		JBrowse link
G MIR146A microRNA 146a ISO miRNA:altered expression:peritoneum, liver (mouse) RGD PMID:27025258 RGD:126925155 NCBI chr 5:160,485,352...160,485,450
Ensembl chr 5:160,485,352...160,485,450 		JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 ameliorates ISO RGD PMID:28401933 RGD:127229921 NCBI chr14:24,336,025...24,339,991
Ensembl chr14:24,336,025...24,340,022 		JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO DNA:point mutation (mouse) RGD PMID:11821237 RGD:5684969 NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894 		JBrowse link
G STAT1 signal transducer and activator of transcription 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11452125 NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960 		JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 EXP CTD Direct Evidence: therapeutic CTD PMID:15316035 NCBI chr 1:12,063,303...12,144,207
Ensembl chr 1:12,063,303...12,144,207 		JBrowse link
G TNFSF8 TNF superfamily member 8 EXP CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:15316035 PMID:18941223 NCBI chr 9:114,893,343...114,930,595
Ensembl chr 9:114,893,343...114,930,595 		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 chr12:56,338,884...56,340,410
Ensembl chr12:56,334,174...56,340,410 		JBrowse link
G IL4 interleukin 4 EXP CTD Direct Evidence: therapeutic CTD PMID:17387165 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678 		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 IAGP
EXP		 ClinVar Annotator: match by term: Buruli ulcer, susceptibility to
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:16395392 NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894 		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 IAGP DNA:SNPs:promoter: -939G>A,-871A>G (rs735239) (human) RGD PMID:24874302 RGD:39938981 NCBI chr19:7,739,993...7,747,534
Ensembl chr19:7,739,993...7,747,564 		JBrowse link
G CLEC4M C-type lectin domain family 4 member M susceptibility IAGP DNA:repeats:exon 4: allele 6, allele 9 (human) RGD PMID:24874302 RGD:39938981 NCBI chr19:7,763,243...7,769,605
Ensembl chr19:7,763,210...7,769,605 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 IEP protein:increased expression:serum (human) RGD PMID:16001981 RGD:39939055 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716 		JBrowse link
G EREG epiregulin susceptibility IAGP DNA:SNP:exon 4: (rs2367707) (human) RGD PMID:30634928 RGD:39457687 NCBI chr 4:74,365,145...74,388,749
Ensembl chr 4:74,365,145...74,388,749 		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 IAGP ClinVar Annotator: match by term: Immunodeficiency 117 OMIM
ClinVar		 NCBI chr 5:132,481,609...132,490,773
Ensembl chr 5:132,440,440...132,508,719 		JBrowse link
G LOC126807508 CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:131821689-131822888 IAGP ClinVar Annotator: match by term: Immunodeficiency 117 ClinVar NCBI chr 5:132,485,997...132,487,196 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 IAGP ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr 6:136,256,627...136,289,846
Ensembl chr 6:136,256,627...136,289,851 		JBrowse link
G IFNGR1 interferon gamma receptor 1 susceptibility IAGP ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar
OMIM		 PMID:8960473 PMID:8960475 PMID:9142806 PMID:9389728 PMID:9497247 More... NCBI chr 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449 		JBrowse link
G IFNGR2 interferon gamma receptor 2 IAGP ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr21:33,402,882...33,437,516
Ensembl chr21:33,403,413...33,479,348 		JBrowse link
G IL12RB1 interleukin 12 receptor subunit beta 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:19460324 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr19:18,058,995...18,098,816
Ensembl chr19:18,058,995...18,098,944 		JBrowse link
G IL20RA interleukin 20 receptor subunit alpha IAGP ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr 6:136,999,971...137,044,965
Ensembl chr 6:136,999,971...137,045,180 		JBrowse link
G IL22RA2 interleukin 22 receptor subunit alpha 2 IAGP ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr 6:137,143,820...137,173,644
Ensembl chr 6:137,143,820...137,173,648 		JBrowse link
G MAP3K5 mitogen-activated protein kinase kinase kinase 5 IAGP ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr 6:136,557,046...136,793,091
Ensembl chr 6:136,557,046...136,793,097 		JBrowse link
G MAP7 microtubule associated protein 7 IAGP ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr 6:136,342,734...136,550,422
Ensembl chr 6:136,342,281...136,550,819 		JBrowse link
G MTFR2 mitochondrial fission regulator 2 IAGP ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr 6:136,231,034...136,250,311
Ensembl chr 6:136,231,024...136,250,335 		JBrowse link
G PDE7B phosphodiesterase 7B IAGP ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr 6:135,851,701...136,195,574
Ensembl chr 6:135,851,701...136,195,574 		JBrowse link
G PEX7 peroxisomal biogenesis factor 7 IAGP ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr 6:136,822,592...136,913,934
Ensembl chr 6:136,822,564...136,913,934 		JBrowse link
G SLC35D3 solute carrier family 35 member D3 IAGP ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr 6:136,922,301...136,925,660
Ensembl chr 6:136,922,301...136,925,660 		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 IAGP ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 2:189,674,670...189,763,059
Ensembl chr 2:189,674,290...189,761,193 		JBrowse link
G ASNSD1 asparagine synthetase domain containing 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 2:189,661,459...189,670,831
Ensembl chr 2:189,661,385...189,670,831 		JBrowse link
G C2orf88 chromosome 2 open reading frame 88 IAGP ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 2:189,879,562...190,203,484
Ensembl chr 2:189,879,609...190,203,484 		JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G COL5A2 collagen type V alpha 2 chain IAGP ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312 		JBrowse link
G GLS glutaminase IAGP ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 2:190,880,821...190,965,552
Ensembl chr 2:190,880,821...190,965,552 		JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase IAGP ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 2:190,189,735...190,319,826
Ensembl chr 2:190,189,735...190,344,193 		JBrowse link
G INPP1 inositol polyphosphate-1-phosphatase IAGP ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 2:190,343,589...190,371,665
Ensembl chr 2:190,343,570...190,371,665 		JBrowse link
G MFSD6 major facilitator superfamily domain containing 6 IAGP ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 2:190,407,576...190,502,314
Ensembl chr 2:190,408,355...190,509,205 		JBrowse link
G MSTN myostatin IAGP ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 2:190,055,700...190,062,729
Ensembl chr 2:190,055,700...190,062,729 		JBrowse link
G NAB1 NGFI-A binding protein 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 2:190,648,895...190,692,766
Ensembl chr 2:190,646,746...190,692,766 		JBrowse link
G NEMP2 nuclear envelope integral membrane protein 2 IAGP ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 2:190,421,421...190,648,785
Ensembl chr 2:190,504,338...190,534,722 		JBrowse link
G ORMDL1 ORMDL sphingolipid biosynthesis regulator 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 2:189,763,859...189,784,339
Ensembl chr 2:189,770,267...189,784,364 		JBrowse link
G OSGEPL1 O-sialoglycoprotein endopeptidase like 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 2:189,746,660...189,763,198
Ensembl chr 2:189,746,660...189,763,227 		JBrowse link
G PMS1 PMS1 homolog 1, mismatch repair system component IAGP ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 2:189,784,450...189,877,629
Ensembl chr 2:189,784,085...189,877,629 		JBrowse link
G SLC40A1 solute carrier family 40 member 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 2:189,560,590...189,580,786
Ensembl chr 2:189,560,590...189,583,758 		JBrowse link
G STAT1 signal transducer and activator of transcription 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 31B
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		 ClinVar
OMIM		 PMID:9536098 PMID:12590259 PMID:16199547 PMID:16585605 PMID:17576681 More... NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:22651901 PMID:28492532 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435 		JBrowse link
G WDR75 WD repeat domain 75 IAGP ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar PMID:28492532 NCBI chr 2:189,441,474...189,475,552
Ensembl chr 2:189,441,446...189,475,552 		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 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755 		JBrowse link
G ARHGAP4 Rho GTPase activating protein 4 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,907,378...153,926,264
Ensembl chr  X:153,907,367...153,934,999 		JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,517,642...153,582,929
Ensembl chr  X:153,517,642...153,582,939 		JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,428,677...154,436,516
Ensembl chr  X:154,428,633...154,436,516 		JBrowse link
G ATP6AP1-DT ATP6AP1 divergent transcript IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,424,380...154,428,479
Ensembl chr  X:154,424,378...154,428,526 		JBrowse link
G AVPR2 arginine vasopressin receptor 2 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,902,625...153,907,166
Ensembl chr  X:153,902,531...153,907,166 		JBrowse link
G BCAP31 B cell receptor associated protein 31 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,700,492...153,724,387
Ensembl chr  X:153,700,492...153,724,565 		JBrowse link
G BGN biglycan IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,494,980...153,509,546 		JBrowse link
G BRCC3 BRCA1/BRCA2-containing complex subunit 3 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,071,508...155,123,077
Ensembl chr  X:155,071,420...155,123,077 		JBrowse link
G CCNQ cyclin Q IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,587,925...153,599,139
Ensembl chr  X:153,587,925...153,600,045 		JBrowse link
G CLIC2 chloride intracellular channel 2 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,276,211...155,334,614
Ensembl chr  X:155,276,211...155,334,657 		JBrowse link
G CMC4 C-X9-C motif containing 4 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,061,622...155,071,136
Ensembl chr  X:155,061,622...155,071,136 		JBrowse link
G CTAG1A cancer/testis antigen 1A IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,585,133...154,586,816
Ensembl chr  X:154,585,133...154,586,816 		JBrowse link
G CTAG1B cancer/testis antigen 1B IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,617,609...154,619,282
Ensembl chr  X:154,617,609...154,619,282 		JBrowse link
G CTAG2 cancer/testis antigen 2 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,651,977...154,653,579
Ensembl chr  X:154,651,972...154,653,579 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689 		JBrowse link
G DNASE1L1 deoxyribonuclease 1 like 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,401,236...154,412,101
Ensembl chr  X:154,401,236...154,412,112 		JBrowse link
G DUSP9 dual specificity phosphatase 9 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,642,441...153,651,326
Ensembl chr  X:153,642,492...153,651,326 		JBrowse link
G EMD emerin IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,379,295...154,381,523
Ensembl chr  X:154,379,273...154,381,574 		JBrowse link
G F8 coagulation factor VIII IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940 		JBrowse link
G F8A1 coagulation factor VIII associated 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,886,355...154,888,061
Ensembl chr  X:154,886,355...154,888,061 		JBrowse link
G F8A2 coagulation factor VIII associated 2 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,382,095...155,383,801
Ensembl chr  X:155,382,095...155,383,801 		JBrowse link
G F8A3 coagulation factor VIII associated 3 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,456,914...155,458,620
Ensembl chr  X:155,456,914...155,458,620 		JBrowse link
G FAM223A family with sequence similarity 223 member A IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,571,248...154,571,960
Ensembl chr  X:154,571,248...154,571,960 		JBrowse link
G FAM223B family with sequence similarity 223 member B IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,632,470...154,633,182
Ensembl chr  X:154,632,470...154,633,182 		JBrowse link
G FAM3A FAM3 metabolism regulating signaling molecule A IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,506,171...154,516,232
Ensembl chr  X:154,506,159...154,516,242 		JBrowse link
G FAM50A family with sequence similarity 50 member A IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,444,141...154,450,654
Ensembl chr  X:154,444,141...154,450,654 		JBrowse link
G FLNA filamin A IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FUNDC2 FUN14 domain containing 2 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,026,844...155,060,304
Ensembl chr  X:155,025,980...155,060,304 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,531,390...154,547,569
Ensembl chr  X:154,517,825...154,547,572 		JBrowse link
G GAB3 GRB2 associated binding protein 3 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,675,249...154,751,566
Ensembl chr  X:154,675,249...154,751,583 		JBrowse link
G GDI1 GDP dissociation inhibitor 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,437,154...154,443,467
Ensembl chr  X:154,436,913...154,443,467 		JBrowse link
G H2AB1 H2A.B variant histone 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,884,972...154,885,558
Ensembl chr  X:154,884,972...154,885,558 		JBrowse link
G H2AB2 H2A.B variant histone 2 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,380,709...155,381,299
Ensembl chr  X:155,380,709...155,381,299 		JBrowse link
G H2AB3 H2A.B variant histone 3 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,459,415...155,460,005
Ensembl chr  X:155,459,415...155,460,005 		JBrowse link
G HAUS7 HAUS augmin like complex subunit 7 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,447,668...153,495,465
Ensembl chr  X:153,447,668...153,495,516 		JBrowse link
G HCFC1 host cell factor C1 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,947,557...153,971,818
Ensembl chr  X:153,947,557...153,971,818 		JBrowse link
G HCFC1-AS1 HCFC1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,968,765...153,970,091
Ensembl chr  X:153,969,325...153,970,087 		JBrowse link
G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,785,768...153,794,375
Ensembl chr  X:153,785,766...153,794,512 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP
EXP		 ClinVar Annotator: match by term: Immunodeficiency 33
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11484156 PMID:11590134 More... NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046 		JBrowse link
G IL9R interleukin 9 receptor IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,997,696...156,013,020
NCBI chr  Y:57,184,072...57,197,869
Ensembl chr  Y:57,184,216...57,197,337
Ensembl chr  X:57,184,216...57,197,337 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,010,507...154,019,902
Ensembl chr  X:154,010,506...154,019,902 		JBrowse link
G L1CAM L1 cell adhesion molecule IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,861,514...153,886,173
Ensembl chr  X:153,861,514...153,886,173 		JBrowse link
G L1CAM-AS1 L1CAM antisense RNA 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,880,672...153,888,990
Ensembl chr  X:153,880,672...153,888,990 		JBrowse link
G LAGE3 L antigen family member 3 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,477,775...154,479,281
Ensembl chr  X:154,477,775...154,479,281 		JBrowse link
G LOC101927830 uncharacterized LOC101927830 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,347,137...155,374,174 JBrowse link
G LOC106146143 int1h-1 recombination region IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,006,107...155,007,182 JBrowse link
G LOC106146144 int1h-2 recombination region IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,147,688...155,149,673 JBrowse link
G LOC106146150 int22h-1 recombination region IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,880,819...154,890,330 JBrowse link
G LOC106146151 int22h-2 recombination region IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,376,510...155,386,062 JBrowse link
G LOC106146152 int22h-3 recombination region IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,454,648...155,464,204 JBrowse link
G LOC107181288 origin of replication in promoter of G6PD IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,546,511...154,547,759 JBrowse link
G LOC107522039 meiotic recombination hotspot PAR2 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,764,858...155,769,660
NCBI chr  Y:56,951,378...56,956,180 		JBrowse link
G LOC107838685 meiotic recombination hotspot PAR2A IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,747,397...155,751,379
NCBI chr  Y:56,933,917...56,937,899 		JBrowse link
G LOC107988021 IKBKG recombination region IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,556,498...154,558,301 JBrowse link
G LOC107988022 IKBKG downstream recombination region IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,568,820...154,569,698 JBrowse link
G LOC107988024 IKBKGP1 recombination region IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,646,128...154,647,897 JBrowse link
G LOC107988025 IKBKGP1 upstream recombination region IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,634,732...154,635,610 JBrowse link
G LOC107988032 Xq28 proximal FLNA-EMD recombination region IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,335,912...154,349,572 JBrowse link
G LOC107988033 Xq28 distal FLNA-EMD recombination region IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,383,318...154,396,246 JBrowse link
G LOC108281126 G6PD and IKBKG intron CAGE-defined low expression enhancer IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,541,534...154,543,269 JBrowse link
G LOC111365170 NFE2L2 motif-containing MPRA enhancer 190/191 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,002,271...154,002,417 JBrowse link
G LOC111589209 HNF4 motif-containing MPRA enhancer 232 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,626,998...153,627,142 JBrowse link
G LOC113875014 Sharpr-MPRA regulatory region 9358 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,470,628...153,471,105 JBrowse link
G LOC113875015 Sharpr-MPRA regulatory region 12525 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,719,354...154,719,648 JBrowse link
G LOC113875016 H3K27ac hESC enhancer GRCh37_chrX:154444390-154445178 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,216,113...155,216,901 JBrowse link
G LOC116309161 CRISPRi-validated cis-regulatory element chrX.2654 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,800,709...153,800,983 JBrowse link
G LOC116309162 CRISPRi-validated cis-regulatory element chrX.2695 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,985,283...153,986,017 JBrowse link
G LOC121627985 Sharpr-MPRA regulatory region 11639 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,529,334...154,529,628 JBrowse link
G LOC121627986 H3K4me1 hESC enhancer GRCh37_chrX:154285543-154286044 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,057,268...155,057,769 JBrowse link
G LOC121853071 Sharpr-MPRA regulatory region 5891 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,708,414...153,708,708 JBrowse link
G LOC121853072 Sharpr-MPRA regulatory region 3405 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,472,206...154,472,500 JBrowse link
G LOC125467793 Sharpr-MPRA regulatory region 3572 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,136,674...154,136,968 JBrowse link
G LOC125467794 Sharpr-MPRA regulatory region 13577 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,730,754...154,731,048 JBrowse link
G LOC125467795 Sharpr-MPRA regulatory region 4209 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,007,074...155,007,368 JBrowse link
G LOC126863349 P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:154195537-154196736 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,967,262...154,968,461 JBrowse link
G LOC129929050 ATAC-STARR-seq lymphoblastoid active region 30056 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,347,494...154,347,633 JBrowse link
G LOC129929051 ATAC-STARR-seq lymphoblastoid active region 30057 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,347,664...154,347,753 JBrowse link
G LOC129929052 ATAC-STARR-seq lymphoblastoid silent region 21114 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,546,728...154,547,287 JBrowse link
G LOC130068821 ATAC-STARR-seq lymphoblastoid active region 30033 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,469,868...153,470,047 JBrowse link
G LOC130068822 ATAC-STARR-seq lymphoblastoid active region 30034 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,470,198...153,470,297 JBrowse link
G LOC130068823 ATAC-STARR-seq lymphoblastoid active region 30035 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,507,438...153,507,537 JBrowse link
G LOC130068824 ATAC-STARR-seq lymphoblastoid active region 30036 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,507,618...153,507,667 JBrowse link
G LOC130068825 ATAC-STARR-seq lymphoblastoid silent region 21064 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,598,850...153,599,209 JBrowse link
G LOC130068826 ATAC-STARR-seq lymphoblastoid silent region 21065 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,599,220...153,599,269 JBrowse link
G LOC130068827 ATAC-STARR-seq lymphoblastoid silent region 21066 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,599,370...153,599,509 JBrowse link
G LOC130068828 ATAC-STARR-seq lymphoblastoid silent region 21067 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,609,979...153,610,088 JBrowse link
G LOC130068829 ATAC-STARR-seq lymphoblastoid silent region 21068 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,669,489...153,669,538 JBrowse link
G LOC130068830 ATAC-STARR-seq lymphoblastoid silent region 21069 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,723,666...153,723,845 JBrowse link
G LOC130068831 ATAC-STARR-seq lymphoblastoid silent region 21070 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,724,056...153,725,015 JBrowse link
G LOC130068832 ATAC-STARR-seq lymphoblastoid active region 30037 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,726,574...153,726,863 JBrowse link
G LOC130068833 ATAC-STARR-seq lymphoblastoid active region 30038 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,727,134...153,727,293 JBrowse link
G LOC130068834 ATAC-STARR-seq lymphoblastoid active region 30039 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,727,314...153,727,483 JBrowse link
G LOC130068835 ATAC-STARR-seq lymphoblastoid silent region 21072 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,819,045...153,819,204 JBrowse link
G LOC130068836 ATAC-STARR-seq lymphoblastoid active region 30041 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,879,535...153,879,594 JBrowse link
G LOC130068837 ATAC-STARR-seq lymphoblastoid active region 30042 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,924,431...153,924,560 JBrowse link
G LOC130068838 ATAC-STARR-seq lymphoblastoid silent region 21073 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,926,019...153,926,608 JBrowse link
G LOC130068839 ATAC-STARR-seq lymphoblastoid silent region 21074 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,928,019...153,928,578 JBrowse link
G LOC130068840 ATAC-STARR-seq lymphoblastoid silent region 21075 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,934,727...153,935,306 JBrowse link
G LOC130068841 ATAC-STARR-seq lymphoblastoid active region 30043 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,944,486...153,944,615 JBrowse link
G LOC130068842 ATAC-STARR-seq lymphoblastoid active region 30044 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,953,453...153,953,692 JBrowse link
G LOC130068843 ATAC-STARR-seq lymphoblastoid active region 30045 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,970,189...153,970,428 JBrowse link
G LOC130068844 ATAC-STARR-seq lymphoblastoid silent region 21077 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,971,899...153,972,138 JBrowse link
G LOC130068845 ATAC-STARR-seq lymphoblastoid silent region 21078 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,972,369...153,972,818 JBrowse link
G LOC130068846 ATAC-STARR-seq lymphoblastoid silent region 21079 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,972,929...153,973,038 JBrowse link
G LOC130068847 ATAC-STARR-seq lymphoblastoid active region 30047 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,980,474...153,980,583 JBrowse link
G LOC130068848 ATAC-STARR-seq lymphoblastoid active region 30048 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,984,391...153,984,440 JBrowse link
G LOC130068849 ATAC-STARR-seq lymphoblastoid silent region 21080 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,019,272...154,019,341 JBrowse link
G LOC130068850 ATAC-STARR-seq lymphoblastoid silent region 21081 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,019,352...154,019,451 JBrowse link
G LOC130068851 ATAC-STARR-seq lymphoblastoid active region 30052 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,020,952...154,021,021 JBrowse link
G LOC130068852 ATAC-STARR-seq lymphoblastoid active region 30053 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,096,733...154,096,822 JBrowse link
G LOC130068853 ATAC-STARR-seq lymphoblastoid silent region 21083 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,097,143...154,097,222 JBrowse link
G LOC130068854 ATAC-STARR-seq lymphoblastoid silent region 21085 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,097,643...154,098,002 JBrowse link
G LOC130068855 ATAC-STARR-seq lymphoblastoid active region 30055 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,334,073...154,334,292 JBrowse link
G LOC130068856 ATAC-STARR-seq lymphoblastoid silent region 21086 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,369,426...154,369,505 JBrowse link
G LOC130068857 ATAC-STARR-seq lymphoblastoid silent region 21087 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,370,446...154,370,745 JBrowse link
G LOC130068858 ATAC-STARR-seq lymphoblastoid silent region 21093 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,372,909...154,372,968 JBrowse link
G LOC130068859 ATAC-STARR-seq lymphoblastoid active region 30059 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,373,372...154,373,421 JBrowse link
G LOC130068860 ATAC-STARR-seq lymphoblastoid silent region 21094 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,374,511...154,374,570 JBrowse link
G LOC130068861 ATAC-STARR-seq lymphoblastoid silent region 21095 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,374,581...154,374,720 JBrowse link
G LOC130068862 ATAC-STARR-seq lymphoblastoid silent region 21096 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,378,386...154,378,515 JBrowse link
G LOC130068863 ATAC-STARR-seq lymphoblastoid silent region 21097 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,378,536...154,378,955 JBrowse link
G LOC130068864 ATAC-STARR-seq lymphoblastoid silent region 21098 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,378,966...154,379,265 JBrowse link
G LOC130068865 ATAC-STARR-seq lymphoblastoid silent region 21099 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,397,420...154,397,599 JBrowse link
G LOC130068866 ATAC-STARR-seq lymphoblastoid silent region 21100 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,397,670...154,397,739 JBrowse link
G LOC130068867 ATAC-STARR-seq lymphoblastoid active region 30060 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,398,300...154,398,509 JBrowse link
G LOC130068868 ATAC-STARR-seq lymphoblastoid active region 30061 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,402,470...154,402,669 JBrowse link
G LOC130068869 ATAC-STARR-seq lymphoblastoid silent region 21101 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,411,526...154,412,065 JBrowse link
G LOC130068870 ATAC-STARR-seq lymphoblastoid silent region 21104 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,444,329...154,444,538 JBrowse link
G LOC130068871 ATAC-STARR-seq lymphoblastoid silent region 21105 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,444,549...154,444,638 JBrowse link
G LOC130068872 ATAC-STARR-seq lymphoblastoid active region 30062 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,457,689...154,457,758 JBrowse link
G LOC130068873 ATAC-STARR-seq lymphoblastoid silent region 21106 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,457,849...154,458,018 JBrowse link
G LOC130068874 ATAC-STARR-seq lymphoblastoid silent region 21107 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,458,149...154,458,388 JBrowse link
G LOC130068875 ATAC-STARR-seq lymphoblastoid silent region 21108 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,458,629...154,458,698 JBrowse link
G LOC130068876 ATAC-STARR-seq lymphoblastoid silent region 21109 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,478,675...154,478,894 JBrowse link
G LOC130068877 ATAC-STARR-seq lymphoblastoid active region 30063 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,481,991...154,482,050 JBrowse link
G LOC130068878 ATAC-STARR-seq lymphoblastoid active region 30064 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,487,159...154,487,218 JBrowse link
G LOC130068879 ATAC-STARR-seq lymphoblastoid silent region 21112 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,490,352...154,490,861 JBrowse link
G LOC130068880 ATAC-STARR-seq lymphoblastoid active region 30065 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,526,844...154,526,993 JBrowse link
G LOC130068881 ATAC-STARR-seq lymphoblastoid active region 30067 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,547,728...154,548,007 JBrowse link
G LOC130068882 ATAC-STARR-seq lymphoblastoid silent region 21115 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,715,096...154,715,205 JBrowse link
G LOC130068883 ATAC-STARR-seq lymphoblastoid silent region 21116 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,750,723...154,750,782 JBrowse link
G LOC130068884 ATAC-STARR-seq lymphoblastoid silent region 21117 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,750,953...154,751,032 JBrowse link
G LOC130068885 ATAC-STARR-seq lymphoblastoid active region 30068 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,762,485...154,762,544 JBrowse link
G LOC130068886 ATAC-STARR-seq lymphoblastoid silent region 21118 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,762,645...154,762,944 JBrowse link
G LOC130068887 ATAC-STARR-seq lymphoblastoid active region 30069 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,763,295...154,763,394 JBrowse link
G LOC130068888 ATAC-STARR-seq lymphoblastoid silent region 21119 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,805,450...154,805,609 JBrowse link
G LOC130068889 ATAC-STARR-seq lymphoblastoid active region 30070 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,827,852...154,827,931 JBrowse link
G LOC130068890 ATAC-STARR-seq lymphoblastoid active region 30071 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,827,952...154,828,001 JBrowse link
G LOC130068891 ATAC-STARR-seq lymphoblastoid active region 30072 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,980,910...154,980,959 JBrowse link
G LOC130068892 ATAC-STARR-seq lymphoblastoid active region 30073 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,981,060...154,981,109 JBrowse link
G LOC130068893 ATAC-STARR-seq lymphoblastoid silent region 21120 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,026,665...155,026,754 JBrowse link
G LOC130068894 ATAC-STARR-seq lymphoblastoid silent region 21121 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,027,025...155,027,344 JBrowse link
G LOC130068895 ATAC-STARR-seq lymphoblastoid active region 30074 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,070,764...155,071,063 JBrowse link
G LOC130068896 ATAC-STARR-seq lymphoblastoid silent region 21124 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,264,269...155,264,478 JBrowse link
G LOC130068897 ATAC-STARR-seq lymphoblastoid silent region 21125 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,264,489...155,264,538 JBrowse link
G LOC130068898 ATAC-STARR-seq lymphoblastoid active region 30078 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,632,598...155,632,647 JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103 		JBrowse link
G MIR1184-1 microRNA 1184-1 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,887,360...154,887,458
Ensembl chr  X:154,887,360...154,887,458 		JBrowse link
G MIR1184-2 microRNA 1184-2 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,383,100...155,383,198
Ensembl chr  X:155,383,100...155,383,198 		JBrowse link
G MIR1184-3 microRNA 1184-3 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,457,517...155,457,615
Ensembl chr  X:155,457,517...155,457,615 		JBrowse link
G MIR3202-1 microRNA 3202-1 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,981,097...153,981,177
Ensembl chr  X:153,981,097...153,981,177 		JBrowse link
G MIR3202-2 microRNA 3202-2 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,981,098...153,981,176
Ensembl chr  X:153,981,098...153,981,176 		JBrowse link
G MIR664B microRNA 664b IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,768,596...154,768,656
Ensembl chr  X:154,768,596...154,768,656 		JBrowse link
G MIR6858 microRNA 6858 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,450,320...154,450,386
Ensembl chr  X:154,450,320...154,450,386 		JBrowse link
G MIR718 microRNA 718 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,019,920...154,019,989
Ensembl chr  X:154,019,920...154,019,989 		JBrowse link
G MPP1 MAGUK p55 scaffold protein 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,778,684...154,805,485
Ensembl chr  X:154,778,684...154,821,007 		JBrowse link
G MRFAP1P1 MRFAP1 pseudogene 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,599,340...153,599,893
Ensembl chr  X:153,599,315...153,613,937 		JBrowse link
G MTCP1 mature T cell proliferation 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,064,034...155,071,136
Ensembl chr  X:155,064,034...155,147,937 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080 		JBrowse link
G OPN1LW opsin 1, long wave sensitive IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,144,243...154,159,032
Ensembl chr  X:154,144,243...154,159,032 		JBrowse link
G OPN1MW opsin 1, medium wave sensitive IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,182,596...154,196,861
Ensembl chr  X:154,182,596...154,196,861 		JBrowse link
G OPN1MW2 opsin 1, medium wave sensitive 2 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,219,756...154,233,286
Ensembl chr  X:154,219,756...154,233,286 		JBrowse link
G OPN1MW3 opsin 1, medium wave sensitive 3 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,257,582...154,271,090
Ensembl chr  X:154,257,582...154,271,090 		JBrowse link
G OPSIN-LCR opsin locus control region IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,137,727...154,144,286 JBrowse link
G PDZD4 PDZ domain containing 4 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,802,166...153,830,544
Ensembl chr  X:153,802,166...153,830,565 		JBrowse link
G PLXNA3 plexin A3 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,458,281...154,477,779
Ensembl chr  X:154,458,281...154,477,779 		JBrowse link
G PLXNB3 plexin B3 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,764,249...153,779,341
Ensembl chr  X:153,764,196...153,779,346 		JBrowse link
G PLXNB3-AS1 PLXNB3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,758,067...153,766,526 JBrowse link
G PNCK pregnancy up-regulated nonubiquitous CaM kinase IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,669,733...153,687,771
Ensembl chr  X:153,669,733...153,689,010 		JBrowse link
G RAB39B RAB39B, member RAS oncogene family IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,258,235...155,264,491
Ensembl chr  X:155,258,235...155,264,491 		JBrowse link
G RENBP renin binding protein IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,935,269...153,944,643
Ensembl chr  X:153,935,269...153,944,687 		JBrowse link
G RPL10 ribosomal protein L10 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,398,065...154,402,339
Ensembl chr  X:154,389,955...154,409,168 		JBrowse link
G SLC10A3 solute carrier family 10 member 3 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,487,311...154,490,629
Ensembl chr  X:154,487,306...154,490,690 		JBrowse link
G SLC6A8 solute carrier family 6 member 8 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,687,926...153,696,593
Ensembl chr  X:153,687,926...153,696,588 		JBrowse link
G SMIM9 small integral membrane protein 9 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,823,348...154,834,662
Ensembl chr  X:154,823,348...154,834,662 		JBrowse link
G SNORA36A small nucleolar RNA, H/ACA box 36A IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,768,528...154,768,659
Ensembl chr  X:154,768,528...154,768,659 		JBrowse link
G SNORA56 small nucleolar RNA, H/ACA box 56 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,774,998...154,775,126
Ensembl chr  X:154,774,998...154,775,126 		JBrowse link
G SNORA70 small nucleolar RNA, H/ACA box 70 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,400,281...154,400,415
Ensembl chr  X:154,400,281...154,400,415 		JBrowse link
G SPRY3 sprouty RTK signaling antagonist 3 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,612,586...155,782,459
NCBI chr  Y:56,923,423...56,968,979
Ensembl chr  X:155,612,572...155,782,459 		JBrowse link
G SRPK3 SRSF protein kinase 3 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,781,041...153,785,730
Ensembl chr  X:153,776,412...153,785,732 		JBrowse link
G SSR4 signal sequence receptor subunit 4 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,794,159...153,798,512
Ensembl chr  X:153,793,516...153,798,499 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,411,539...154,421,726
Ensembl chr  X:154,411,524...154,421,726 		JBrowse link
G TEX28 testis expressed 28 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,271,265...154,295,211
Ensembl chr  X:154,271,265...154,295,853 		JBrowse link
G TKTL1 transketolase like 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,295,795...154,330,350
Ensembl chr  X:154,295,795...154,330,350 		JBrowse link
G TMEM187 transmembrane protein 187 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,972,754...153,983,194
Ensembl chr  X:153,972,754...153,983,194 		JBrowse link
G TMLHE trimethyllysine hydroxylase, epsilon IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,489,011...155,612,952
Ensembl chr  X:155,489,011...155,719,098 		JBrowse link
G TMLHE-AS1 TMLHE antisense RNA 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,466,540...155,494,110
Ensembl chr  X:155,466,540...155,611,616 		JBrowse link
G TREX2 three prime repair exonuclease 2 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:153,444,473...153,446,056
Ensembl chr  X:153,444,473...153,470,587 		JBrowse link
G UBL4A ubiquitin like 4A IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:154,483,717...154,486,615
Ensembl chr  X:154,483,717...154,486,615 		JBrowse link
G VAMP7 vesicle associated membrane protein 7 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,881,345...155,943,769
NCBI chr  Y:57,067,865...57,130,289
Ensembl chr  Y:57,067,865...57,130,289
Ensembl chr  X:57,067,865...57,130,289 		JBrowse link
G VBP1 VHL binding protein 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:155,197,007...155,239,841
Ensembl chr  X:155,197,007...155,239,841 		JBrowse link
immunodeficiency 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYBB cytochrome b-245 beta chain IAGP
EXP		 ClinVar Annotator: match by term: X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:8634410 PMID:8655140 PMID:8900212 PMID:8916969 PMID:9536098 More... NCBI chr  X:37,780,059...37,813,461
Ensembl chr  X:37,780,018...37,813,461 		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 IAGP ClinVar Annotator: match by 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 1:1,292,391...1,307,930
Ensembl chr 1:1,292,390...1,309,609 		JBrowse link
G ACTRT2 actin related protein T2 IAGP ClinVar Annotator: match by 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 1:3,021,467...3,022,903
Ensembl chr 1:3,021,467...3,022,903 		JBrowse link
G AGRN agrin IAGP ClinVar Annotator: match by 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 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,118 		JBrowse link
G ANKRD65 ankyrin repeat domain 65 IAGP ClinVar Annotator: match by 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 1:1,418,420...1,421,276
Ensembl chr 1:1,418,420...1,421,769 		JBrowse link
G ARHGEF16 Rho guanine nucleotide exchange factor 16 IAGP ClinVar Annotator: match by 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 1:3,454,665...3,481,113
Ensembl chr 1:3,454,665...3,481,113 		JBrowse link
G ATAD3A ATPase family AAA domain containing 3A IAGP ClinVar Annotator: match by 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 1:1,512,162...1,534,685
Ensembl chr 1:1,512,162...1,534,685 		JBrowse link
G ATAD3B ATPase family AAA domain containing 3B IAGP ClinVar Annotator: match by 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 1:1,471,765...1,509,466
Ensembl chr 1:1,471,765...1,497,848 		JBrowse link
G ATAD3C ATPase family AAA domain containing 3C IAGP ClinVar Annotator: match by 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 1:1,449,689...1,470,163
Ensembl chr 1:1,449,689...1,470,163 		JBrowse link
G AURKAIP1 aurora kinase A interacting protein 1 IAGP ClinVar Annotator: match by 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 1:1,373,736...1,375,207
Ensembl chr 1:1,373,730...1,375,207 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP ClinVar Annotator: match by 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 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G C1orf159 chromosome 1 open reading frame 159 IAGP ClinVar Annotator: match by 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 1:1,081,823...1,116,089
Ensembl chr 1:1,081,818...1,116,361 		JBrowse link
G C1QTNF12 C1q and TNF related 12 IAGP ClinVar Annotator: match by 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 1:1,242,453...1,247,280
Ensembl chr 1:1,242,446...1,246,722 		JBrowse link
G CALML6 calmodulin like 6 IAGP ClinVar Annotator: match by 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 1:1,915,260...1,917,296
Ensembl chr 1:1,915,108...1,917,296 		JBrowse link
G CCDC27 coiled-coil domain containing 27 IAGP ClinVar Annotator: match by 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 1:3,752,450...3,771,645
Ensembl chr 1:3,746,460...3,771,645 		JBrowse link
G CCNL2 cyclin L2 IAGP ClinVar Annotator: match by 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 1:1,385,711...1,399,335
Ensembl chr 1:1,385,711...1,399,335 		JBrowse link
G CDK11A cyclin dependent kinase 11A IAGP ClinVar Annotator: match by 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 1:1,702,379...1,724,357
Ensembl chr 1:1,702,379...1,724,357 		JBrowse link
G CDK11B cyclin dependent kinase 11B IAGP ClinVar Annotator: match by 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 1:1,635,225...1,659,004
Ensembl chr 1:1,635,225...1,659,012 		JBrowse link
G CEP104 centrosomal protein 104 IAGP ClinVar Annotator: match by 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 1:3,812,086...3,857,211
Ensembl chr 1:3,812,086...3,857,396 		JBrowse link
G CFAP74 cilia and flagella associated protein 74 IAGP ClinVar Annotator: match by 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 1:1,921,957...2,003,786
Ensembl chr 1:1,921,951...2,003,837 		JBrowse link
G CPTP ceramide-1-phosphate transfer protein IAGP ClinVar Annotator: match by 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 1:1,324,802...1,328,896
Ensembl chr 1:1,324,756...1,328,896 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP ClinVar Annotator: match by 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 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418 		JBrowse link
G FAAP20 FA core complex associated protein 20 IAGP ClinVar Annotator: match by 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 1:2,184,477...2,212,720
Ensembl chr 1:2,184,461...2,212,720 		JBrowse link
G FNDC10 fibronectin type III domain containing 10 IAGP ClinVar Annotator: match by 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 1:1,598,012...1,600,135
Ensembl chr 1:1,598,012...1,600,135 		JBrowse link
G GABRD gamma-aminobutyric acid type A receptor subunit delta IAGP ClinVar Annotator: match by 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 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758 		JBrowse link
G GNB1 G protein subunit beta 1 IAGP ClinVar Annotator: match by 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 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,892,292 		JBrowse link
G HES4 hes family bHLH transcription factor 4 IAGP ClinVar Annotator: match by 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 1:998,964...1,000,097
Ensembl chr 1:998,962...1,000,172 		JBrowse link
G HES5 hes family bHLH transcription factor 5 IAGP ClinVar Annotator: match by 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 1:2,528,745...2,530,263
Ensembl chr 1:2,528,745...2,530,263 		JBrowse link
G INTS11 integrator complex subunit 11 IAGP ClinVar Annotator: match by 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 1:1,311,600...1,324,660
Ensembl chr 1:1,311,585...1,324,687 		JBrowse link
G ISG15 ISG15 ubiquitin like modifier IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar
OMIM		 PMID:9536098 PMID:9683594 PMID:10862081 PMID:17576681 PMID:19492091 More... NCBI chr 1:1,013,497...1,014,540
Ensembl chr 1:1,001,138...1,014,540 		JBrowse link
G KLHL17 kelch like family member 17 IAGP ClinVar Annotator: match by 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 1:960,584...965,719
Ensembl chr 1:960,584...965,719 		JBrowse link
G LRRC47 leucine rich repeat containing 47 IAGP ClinVar Annotator: match by 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 1:3,778,559...3,796,498
Ensembl chr 1:3,778,559...3,796,498 		JBrowse link
G MEGF6 multiple EGF like domains 6 IAGP ClinVar Annotator: match by 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 1:3,487,951...3,624,786
Ensembl chr 1:3,487,951...3,611,508 		JBrowse link
G MIB2 MIB E3 ubiquitin protein ligase 2 IAGP ClinVar Annotator: match by 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 1:1,613,731...1,630,605
Ensembl chr 1:1,615,454...1,630,605 		JBrowse link
G MIR200A microRNA 200a IAGP ClinVar Annotator: match by 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 1:1,167,863...1,167,952
Ensembl chr 1:1,167,863...1,167,952 		JBrowse link
G MIR200B microRNA 200b IAGP ClinVar Annotator: match by 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 1:1,167,104...1,167,198
Ensembl chr 1:1,167,104...1,167,198 		JBrowse link
G MIR429 microRNA 429 IAGP ClinVar Annotator: match by 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 1:1,169,005...1,169,087
Ensembl chr 1:1,169,005...1,169,087 		JBrowse link
G MIR551A microRNA 551a IAGP ClinVar Annotator: match by 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 1:3,560,695...3,560,790
Ensembl chr 1:3,560,695...3,560,790 		JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 IAGP ClinVar Annotator: match by 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 1:2,590,639...2,633,016
Ensembl chr 1:2,590,639...2,633,016 		JBrowse link
G MMP23B matrix metallopeptidase 23B IAGP ClinVar Annotator: match by 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 1:1,632,173...1,634,654
Ensembl chr 1:1,632,163...1,635,263 		JBrowse link
G MORN1 MORN repeat containing 1 IAGP ClinVar Annotator: match by 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 1:2,321,253...2,391,554
Ensembl chr 1:2,321,253...2,391,707 		JBrowse link
G MRPL20 mitochondrial ribosomal protein L20 IAGP ClinVar Annotator: match by 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 1:1,401,909...1,407,293
Ensembl chr 1:1,401,909...1,407,293 		JBrowse link
G MXRA8 matrix remodeling associated 8 IAGP ClinVar Annotator: match by 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 1:1,352,689...1,363,541
Ensembl chr 1:1,352,689...1,361,777 		JBrowse link
G NADK NAD kinase IAGP ClinVar Annotator: match by 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 1:1,751,232...1,780,514
Ensembl chr 1:1,751,232...1,780,457 		JBrowse link
G NOC2L NOC2 like nucleolar associated transcriptional repressor IAGP ClinVar Annotator: match by 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 1:944,203...959,256
Ensembl chr 1:944,203...959,309 		JBrowse link
G PANK4 pantothenate kinase 4 (inactive) IAGP ClinVar Annotator: match by 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 1:2,508,537...2,526,596
Ensembl chr 1:2,508,537...2,526,597 		JBrowse link
G PEX10 peroxisomal biogenesis factor 10 IAGP ClinVar Annotator: match by 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 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797 		JBrowse link
G PLCH2 phospholipase C eta 2 IAGP ClinVar Annotator: match by 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 1:2,415,943...2,505,532
Ensembl chr 1:2,425,980...2,505,532 		JBrowse link
G PLEKHN1 pleckstrin homology domain containing N1 IAGP ClinVar Annotator: match by 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 1:966,482...975,865
Ensembl chr 1:966,482...975,865 		JBrowse link
G PRDM16 PR/SET domain 16 IAGP ClinVar Annotator: match by 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 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621 		JBrowse link
G PRKCZ protein kinase C zeta IAGP ClinVar Annotator: match by 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 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395 		JBrowse link
G PRXL2B peroxiredoxin like 2B IAGP ClinVar Annotator: match by 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 1:2,586,523...2,591,468
Ensembl chr 1:2,586,491...2,591,469 		JBrowse link
G PUSL1 pseudouridine synthase like 1 IAGP ClinVar Annotator: match by 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 1:1,308,597...1,311,677
Ensembl chr 1:1,308,597...1,311,677 		JBrowse link
G RER1 retention in endoplasmic reticulum sorting receptor 1 IAGP ClinVar Annotator: match by 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 1:2,391,841...2,405,436
Ensembl chr 1:2,391,775...2,405,442 		JBrowse link
G RNF223 ring finger protein 223 IAGP ClinVar Annotator: match by 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 1:1,070,967...1,074,306
Ensembl chr 1:1,070,967...1,074,306 		JBrowse link
G SAMD11 sterile alpha motif domain containing 11 IAGP ClinVar Annotator: match by 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 1:923,923...944,574
Ensembl chr 1:923,923...944,575 		JBrowse link
G SCNN1D sodium channel epithelial 1 subunit delta IAGP ClinVar Annotator: match by 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 1:1,280,436...1,292,025
Ensembl chr 1:1,280,436...1,292,029 		JBrowse link
G SDF4 stromal cell derived factor 4 IAGP ClinVar Annotator: match by 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 1:1,216,931...1,232,001
Ensembl chr 1:1,216,931...1,232,031 		JBrowse link
G SKI SKI proto-oncogene IAGP ClinVar Annotator: match by 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 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213 		JBrowse link
G SLC35E2A solute carrier family 35 member E2A (pseudogene) IAGP ClinVar Annotator: match by 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 1:1,727,385...1,746,070
Ensembl chr 1:1,734,690...1,739,557 		JBrowse link
G SLC35E2B solute carrier family 35 member E2B IAGP ClinVar Annotator: match by 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 1:1,661,478...1,692,795
Ensembl chr 1:1,659,529...1,692,795 		JBrowse link
G SMIM1 small integral membrane protein 1 (Vel blood group) IAGP ClinVar Annotator: match by 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 1:3,772,749...3,775,956
Ensembl chr 1:3,772,749...3,775,982 		JBrowse link
G SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase IAGP ClinVar Annotator: match by 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 1:1,541,673...1,574,863
Ensembl chr 1:1,541,673...1,574,863 		JBrowse link
G TAS1R3 taste 1 receptor member 3 IAGP ClinVar Annotator: match by 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 1:1,331,280...1,335,314
Ensembl chr 1:1,331,280...1,335,314 		JBrowse link
G TMEM240 transmembrane protein 240 IAGP ClinVar Annotator: match by 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 1:1,534,778...1,540,624
Ensembl chr 1:1,534,778...1,540,624 		JBrowse link
G TMEM52 transmembrane protein 52 IAGP ClinVar Annotator: match by 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 1:1,917,591...1,919,279
Ensembl chr 1:1,917,590...1,919,279 		JBrowse link
G TMEM88B transmembrane protein 88B IAGP ClinVar Annotator: match by 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 1:1,425,871...1,430,255
Ensembl chr 1:1,425,871...1,430,255 		JBrowse link
G TNFRSF14 TNF receptor superfamily member 14 IAGP ClinVar Annotator: match by 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 1:2,554,234...2,563,829
Ensembl chr 1:2,555,639...2,565,382 		JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 IAGP ClinVar Annotator: match by 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 1:1,203,508...1,206,592
Ensembl chr 1:1,203,508...1,206,592 		JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 IAGP ClinVar Annotator: match by 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 1:1,211,340...1,214,153
Ensembl chr 1:1,211,326...1,214,153 		JBrowse link
G TP73 tumor protein p73 IAGP ClinVar Annotator: match by 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 1:3,652,516...3,736,201
Ensembl chr 1:3,652,516...3,736,201 		JBrowse link
G TPRG1L tumor protein p63 regulated 1 like IAGP ClinVar Annotator: match by 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 1:3,625,015...3,630,127
Ensembl chr 1:3,625,015...3,630,127 		JBrowse link
G TTC34 tetratricopeptide repeat domain 34 IAGP ClinVar Annotator: match by 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 1:2,636,986...2,801,693
Ensembl chr 1:2,636,986...2,801,693 		JBrowse link
G TTLL10 tubulin tyrosine ligase like 10 IAGP ClinVar Annotator: match by 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 1:1,173,880...1,197,936
Ensembl chr 1:1,173,880...1,197,936 		JBrowse link
G UBE2J2 ubiquitin conjugating enzyme E2 J2 IAGP ClinVar Annotator: match by 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 1:1,253,912...1,273,854
Ensembl chr 1:1,253,909...1,273,864 		JBrowse link
G VWA1 von Willebrand factor A domain containing 1 IAGP ClinVar Annotator: match by 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 1:1,435,690...1,442,882
Ensembl chr 1:1,434,861...1,442,882 		JBrowse link
G WRAP73 WD repeat containing, antisense to TP73 IAGP ClinVar Annotator: match by 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 1:3,630,770...3,650,103
Ensembl chr 1:3,630,767...3,652,761 		JBrowse link
immunodeficiency 69 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFNG interferon gamma IAGP ClinVar Annotator: match by term: Immunodeficiency 69 ClinVar
OMIM		 PMID:24033266 PMID:25741868 PMID:32163377 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		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 IAGP ClinVar Annotator: match by term: Immunodeficiency 86 OMIM
ClinVar		 PMID:23472171 PMID:30127434 NCBI chr15:50,702,266...50,765,706
Ensembl chr15:50,702,266...50,765,948 		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 IAGP ClinVar Annotator: match by term: Immunodeficiency 88 ClinVar
OMIM		 PMID:25741868 NCBI chr17:47,733,236...47,746,122
Ensembl chr17:47,733,236...47,746,122 		JBrowse link
Latent Tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 HEP mRNA, protein:increased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human) RGD PMID:29602771 RGD:41404732 NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323 		JBrowse link
G GPA33 glycoprotein A33 HEP mRNA, protein:decreased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human) RGD PMID:29602771 RGD:41404732 NCBI chr 1:167,052,836...167,090,377
Ensembl chr 1:167,052,836...167,166,479 		JBrowse link
G IL32 interleukin 32 HEP mRNA:increased expression:blood (human) RGD PMID:25143364 RGD:150340735 NCBI chr16:3,065,403...3,069,530
Ensembl chr16:3,065,297...3,082,192 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase HEP mRNA, protein:increased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human RGD PMID:29602771 RGD:41404732 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783 		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 IEP protein:decreased expression:serum RGD PMID:6342123 RGD:7411735 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562 		JBrowse link
G CD163 CD163 molecule exacerbates IEP protein:increased expression:blood serum (human) RGD PMID:22851198 PMID:28355218 RGD:39939078, RGD:127345133 NCBI chr12:7,470,811...7,503,777
Ensembl chr12:7,470,811...7,503,893 		JBrowse link
G CFB complement factor B severity IEP RGD PMID:6342123 RGD:7411735 NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086 		JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP DNA:polymorphisms: :HLA-DQA1*03, HLA-DQA1*05 (human) RGD PMID:19698125 RGD:5147788 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
G IL27 interleukin 27 ameliorates IEP mRNA:decreased expression:skin of body (human) RGD PMID:26030183 RGD:126790539 NCBI chr16:28,499,362...28,506,834
Ensembl chr16:28,499,362...28,512,051 		JBrowse link
G MBL2 mannose binding lectin 2 susceptibility IAGP DNA:SNP:cds:161G>A (human) RGD PMID:20650301 RGD:8694069 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784 		JBrowse link
G VDR vitamin D receptor IEA GAD PMID:15118671 RGD:1331525 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25642632 NCBI chr 1:212,686,417...212,699,840
Ensembl chr 1:212,686,417...212,699,840 		JBrowse link
G CCDC122 coiled-coil domain containing 122 IAGP ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:25741868 NCBI chr13:43,819,018...43,879,740
Ensembl chr13:43,823,909...43,879,740 		JBrowse link
G CCDC88B coiled-coil domain containing 88B EXP CTD Direct Evidence: marker/mechanism CTD PMID:25642632 NCBI chr11:64,340,204...64,357,534
Ensembl chr11:64,340,204...64,357,534 		JBrowse link
G CD8A CD8 subunit alpha exacerbates HEP mRNA:increased expression:blood (human) RGD PMID:31784594 RGD:124715449 NCBI chr 2:86,784,605...86,808,396
Ensembl chr 2:86,784,610...86,808,396 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 severity IAGP DNA:SNP:promoter:g.-353T>A (rs4073) (human) RGD PMID:30303246 RGD:40400755 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716 		JBrowse link
G CYLD-AS1 CYLD antisense RNA 1 IAGP ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr16:50,727,415...50,742,747
Ensembl chr16:50,727,417...50,742,815 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP DNA:polymorphisms (human) RGD PMID:20003324 PMID:19698125 RGD:5147585, RGD:5147788 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G IL10 interleukin 10 IAGP ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:28492532 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL17A interleukin 17A severity IEP mRNA:decreased expression:epidermis (human) RGD PMID:22641009 RGD:8698644 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638 		JBrowse link
G IL19 interleukin 19 IAGP ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:28492532 NCBI chr 1:206,770,773...206,842,981
Ensembl chr 1:206,770,764...206,842,981 		JBrowse link
G IL23R interleukin 23 receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:22019778 NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979 		JBrowse link
G LACC1 laccase domain containing 1 IAGP ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:25741868 NCBI chr13:43,879,178...43,893,932
Ensembl chr13:43,879,284...43,893,932 		JBrowse link
G LOC100287329 uncharacterized LOC100287329 IAGP ClinVar Annotator: match by term: Leprosy, early-onset, susceptibility to ClinVar PMID:15052269 PMID:17353895 NCBI chr 6:31,559,571...31,572,703 JBrowse link
G LRRK2 leucine rich repeat kinase 2 IAGP ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar PMID:26467025 PMID:28492532 NCBI chr12:40,224,997...40,369,285
Ensembl chr12:40,196,744...40,369,285 		JBrowse link
G LTA lymphotoxin alpha susceptibility IAGP
EXP		 ClinVar Annotator: match by term: Leprosy, early-onset, susceptibility to
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:15052269 PMID:17353895 NCBI chr 6:31,560,610...31,574,324
Ensembl chr 6:31,572,054...31,574,324 		JBrowse link
G MRC1 mannose receptor C-type 1 IAGP ClinVar Annotator: match by term: Susceptibility to leprosy and multibacillary leprosy ClinVar PMID:20035344 NCBI chr10:17,809,348...17,911,164
Ensembl chr10:17,809,348...17,911,164 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 IAGP DNA:polymorphisms: :multiple (human)
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1		 ClinVar
RGD		 PMID:20350193 RGD:5508743 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077 		JBrowse link
G PARL presenilin associated rhomboid like IAGP ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr 3:183,826,489...183,884,880
Ensembl chr 3:183,829,271...183,884,933 		JBrowse link
G PINK1 PTEN induced kinase 1 IAGP ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr 1:20,633,458...20,651,511
Ensembl chr 1:20,633,458...20,651,511 		JBrowse link
G PINK1-AS PINK1 antisense RNA IAGP ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr 1:20,642,657...20,652,193
Ensembl chr 1:20,642,657...20,652,193 		JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase IAGP ClinVar Annotator: match by term: LPRS2 ClinVar PMID:10072423 PMID:11558785 PMID:11889248 PMID:12114481 PMID:12730996 More... NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775 		JBrowse link
G RAB32 RAB32, member RAS oncogene family EXP CTD Direct Evidence: marker/mechanism CTD PMID:22019778 NCBI chr 6:146,543,833...146,554,953
Ensembl chr 6:146,543,833...146,554,953 		JBrowse link
G RIPK2 receptor interacting serine/threonine kinase 2 IAGP ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr 8:89,757,816...89,791,064
Ensembl chr 8:89,757,806...89,791,064 		JBrowse link
G SLC11A1 solute carrier family 11 member 1 susceptibility IAGP
EXP		 DNA:repeat:promoter (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms, haplotype (human)		 CTD
RGD		 PMID:16597321 PMID:15755200 PMID:10608779 RGD:5684957, RGD:5684972 NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894 		JBrowse link
G TLR1 toll like receptor 1 susceptibility IAGP
EXP		 DNA:snp:cds:p.I602S (human)
ClinVar Annotator: match by term: LPRS1
ClinVar Annotator: match by term: Leprosy, susceptibility to, 5
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1		 OMIM
ClinVar
CTD
RGD		 PMID:17475868 PMID:17548585 PMID:18461142 PMID:19456232 PMID:23105135 More... RGD:7246917 NCBI chr 4:38,787,569...38,805,644
Ensembl chr 4:38,790,677...38,856,817 		JBrowse link
G TLR2 toll like receptor 2 susceptibility IAGP
EXP		 DNA:polymorphisms:microsatellite,597C>T(human)
ClinVar Annotator: match by term: Leprosy, susceptibility to, 3
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:11476982 PMID:12646604 PMID:15726416 PMID:19111445 PMID:25741868 More... RGD:8553055 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260 		JBrowse link
G TLR6 toll like receptor 6 IAGP ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr 4:38,822,897...38,868,390
Ensembl chr 4:38,822,897...38,856,817 		JBrowse link
G TNF tumor necrosis factor susceptibility IAGP DNA:SNP:promoter:−308G>A (human) RGD PMID:20650301 RGD:8694069 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TNFSF15 TNF superfamily member 15 IAGP ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 ClinVar NCBI chr 9:114,784,635...114,806,039
Ensembl chr 9:114,784,652...114,806,039 		JBrowse link
G TNFSF8 TNF superfamily member 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25320285 NCBI chr 9:114,893,343...114,930,595
Ensembl chr 9:114,893,343...114,930,595 		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 IEP protein:decreased expression:serum RGD PMID:21251883 RGD:5128510 NCBI chr16:27,313,756...27,364,778
Ensembl chr16:27,313,668...27,364,778 		JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:10318940 RGD:10449456 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
Multibacillary Leprosy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GGT1 gamma-glutamyltransferase 1 IEP protein:increased activity:blood: RGD PMID:1680936 RGD:14747017 NCBI chr22:24,583,750...24,628,996
Ensembl chr22:24,594,811...24,629,005 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP DNA:polymorphism (human) RGD PMID:20353806 RGD:5147577 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G SLC11A1 solute carrier family 11 member 1 IAGP DNA:insertion/deletion:3' utr (human) RGD PMID:11791966 RGD:5684970 NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894 		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 IEP mRNA:increased expression:peripheral blood: RGD PMID:25483347 RGD:38456003 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP DNA:polymorphisms (human) RGD PMID:14522182 RGD:5147828 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP DNA:polymorphism (human) RGD PMID:14522182 RGD:5147828 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		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 IEP associated with pulmonary diseases; protein:increased expression:serum RGD PMID:19641295 RGD:5686838 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 IEP protein:increased expression:blood plasma, erythrocyte (human) RGD PMID:26300588 RGD:11250849 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716 		JBrowse link
G IL17A interleukin 17A IDA RGD PMID:20797909 RGD:4888520 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638 		JBrowse link
G IL32 interleukin 32 IEP protein:increased expression:lung, respiratory epithelial cell (human) RGD PMID:22033195 RGD:150340752 NCBI chr16:3,065,403...3,069,530
Ensembl chr16:3,065,297...3,082,192 		JBrowse link
G TNF tumor necrosis factor IEP associated with HIV Infections RGD PMID:7640175 RGD:10450731 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		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 IAGP DNA:mutations: :
DNA:SNP:cds:rs113857788(p.Q1352H)(human)		 RGD PMID:19858235 PMID:23514810 PMID:18703788 RGD:4140395, RGD:36049751, RGD:4140430 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971 		JBrowse link
G IFNGR1 interferon gamma receptor 1 susceptibility IAGP
EXP		 DNA:nonsense mutation
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:8960473 PMID:9389728 PMID:9536098 PMID:9806040 PMID:10192386 More... RGD:1624283 NCBI chr 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449 		JBrowse link
G IL12B interleukin 12B susceptibility IAGP 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		 ClinVar
RGD		 PMID:9854038 RGD:1600042 NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863 		JBrowse link
G IL18 interleukin 18 IEP RGD PMID:21045270 RGD:4889546 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096 		JBrowse link
G IL1R1 interleukin 1 receptor type 1 ISO RGD PMID:16797208 RGD:5037237 NCBI chr 2:102,070,390...102,179,874
Ensembl chr 2:102,064,544...102,179,874 		JBrowse link
G IL20RA interleukin 20 receptor subunit alpha IAGP ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183 NCBI chr 6:136,999,971...137,044,965
Ensembl chr 6:136,999,971...137,045,180 		JBrowse link
G IL22RA2 interleukin 22 receptor subunit alpha 2 IAGP ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183 NCBI chr 6:137,143,820...137,173,644
Ensembl chr 6:137,143,820...137,173,648 		JBrowse link
G LINC02539 long intergenic non-protein coding RNA 2539 IAGP ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183 NCBI chr 6:137,730,170...137,739,037
Ensembl chr 6:137,730,170...137,792,835 		JBrowse link
G OLIG3 oligodendrocyte transcription factor 3 IAGP ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183 NCBI chr 6:137,492,199...137,494,394
Ensembl chr 6:137,492,199...137,494,394 		JBrowse link
G PEX7 peroxisomal biogenesis factor 7 IAGP ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183 NCBI chr 6:136,822,592...136,913,934
Ensembl chr 6:136,822,564...136,913,934 		JBrowse link
G SLC35D3 solute carrier family 35 member D3 IAGP ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183 NCBI chr 6:136,922,301...136,925,660
Ensembl chr 6:136,922,301...136,925,660 		JBrowse link
G STAT1 signal transducer and activator of transcription 1 susceptibility IAGP DNA:transition: ; 2116T>C
ClinVar Annotator: match by term: Familial Atypical Mycobacteriosis, Autosomal Dominant		 ClinVar
RGD		 PMID:11452125 RGD:1600087 NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960 		JBrowse link
G TNFAIP3 TNF alpha induced protein 3 IAGP ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection ClinVar PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183 NCBI chr 6:137,866,349...137,883,312
Ensembl chr 6:137,867,214...137,883,314 		JBrowse link
ocular tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL10 interleukin 10 IEP protein:increased expression:aqueous humor RGD PMID:22583692 RGD:7364832 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
Paratuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AOC3 amine oxidase copper containing 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chr17:42,851,199...42,858,124
Ensembl chr17:42,851,184...42,858,130 		JBrowse link
G C1R complement C1r EXP CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chr12:7,080,219...7,092,445
Ensembl chr12:7,080,214...7,092,540 		JBrowse link
G C3 complement C3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562 		JBrowse link
G F2 coagulation factor II, thrombin EXP CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506 		JBrowse link
G GSN gelsolin EXP CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chr 9:121,201,483...121,332,842
Ensembl chr 9:121,207,794...121,332,843 		JBrowse link
G TF transferrin EXP CTD Direct Evidence: marker/mechanism CTD PMID:22633222 NCBI chr 3:133,661,998...133,796,641
Ensembl chr 3:133,746,040...133,796,641 		JBrowse link
Paucibacillary Leprosy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GGT1 gamma-glutamyltransferase 1 IEP protein:increased activity:blood: RGD PMID:1680936 RGD:14747017 NCBI chr22:24,583,750...24,628,996
Ensembl chr22:24,594,811...24,629,005 		JBrowse link
pleural tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA adenosine deaminase IEP
IDA		 protein:increased activity:pleural fluid:
protein:increased activity:serum:
protein:increased expression:serum:		 RGD PMID:21860532 PMID:1818842 PMID:1689629 PMID:18357489 RGD:152995280, RGD:152998934, RGD:152995292, RGD:152995288 NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252 		JBrowse link
G ADA2 adenosine deaminase 2 treatment IEP RGD PMID:8656037 RGD:152995258 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235 		JBrowse link
G CCL22 C-C motif chemokine ligand 22 IEP RGD PMID:20337996 RGD:4891473 NCBI chr16:57,357,909...57,366,189
Ensembl chr16:57,358,783...57,366,189 		JBrowse link
G CCR2 C-C motif chemokine receptor 2 IDA RGD PMID:19159432 RGD:4145106 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940 		JBrowse link
G CCR5 C-C motif chemokine receptor 5 IEP protein:increased expression:pleural fluid, natural killer cell (human) RGD PMID:19159432 RGD:4145106 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206 		JBrowse link
G FOXP3 forkhead box P3 disease_progression IEP associated with human immunodeficiency virus infectious disease; RGD PMID:21303360 RGD:36947878 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G IL1B interleukin 1 beta IAGP DNA:polymorphism: :3953T>C (human) RGD PMID:10377182 RGD:4143226 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816 		JBrowse link
G IL1RN interleukin 1 receptor antagonist IAGP DNA:repeat (human) RGD PMID:10377182 RGD:4143226 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G IL27 interleukin 27 exacerbates IEP associated with Pleural Effusion;protein:increased expression:pleural fluid (human)
protein:increased expression:alveolar system (human)		 RGD PMID:25753767 PMID:31819557 PMID:23962500 PMID:28844060 RGD:126790505, RGD:126790549, RGD:126790523, RGD:126790517 NCBI chr16:28,499,362...28,506,834
Ensembl chr16:28,499,362...28,512,051 		JBrowse link
G IL33 interleukin 33 IEP protein:increased expression:pleural fluid: RGD PMID:23301222 RGD:39939042 NCBI chr 9:6,215,149...6,257,983
Ensembl chr 9:6,215,786...6,257,983 		JBrowse link
G MMP9 matrix metallopeptidase 9 IEP protein:increased expression:pleura: RGD PMID:18715875 RGD:5129700 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G TLR4 toll like receptor 4 IEP RGD PMID:18295348 RGD:4144193 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735 		JBrowse link
G TNC tenascin C IEP protein:increased expression:pleura RGD PMID:10950882 RGD:4889594 NCBI chr 9:115,019,575...115,118,157
Ensembl chr 9:115,019,575...115,118,207 		JBrowse link
pulmonary tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 treatment IAGP DNA:SNP: :2677G>A (human) RGD PMID:26067842 RGD:11098541 NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323 		JBrowse link
G ADA adenosine deaminase IEP protein:increased expression:plasma, respiratory system fluid/secretion
protein:increased activity:blood, pulmonary alveolar duct
protein:increased activity:sputum:		 RGD PMID:12194640 PMID:2212911 PMID:19460251 RGD:5128854, RGD:152995390, RGD:152995271 NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252 		JBrowse link
G ADA2 adenosine deaminase 2 IEP protein:increased activity:sputum: RGD PMID:19460251 RGD:152995271 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing IEP protein:increased expression:plasma RGD PMID:22022605 RGD:5686405 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 susceptibility IAGP DNA:SNP,haplotype:intron: IVS3+18 C/C (human) RGD PMID:20141546 RGD:38676498 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		JBrowse link
G ALOX5 arachidonate 5-lipoxygenase susceptibility IAGP DNA:polymorphism, repeat:promoter, exon:g.760G>A (human) RGD PMID:18174194 RGD:4890411 NCBI chr10:45,374,216...45,446,117
Ensembl chr10:45,374,176...45,446,119 		JBrowse link
G ASAP1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25774636 NCBI chr 8:130,052,104...130,443,674
Ensembl chr 8:130,052,104...130,443,674 		JBrowse link
G ATF3 activating transcription factor 3 IEP mRNA,protein:increased expression:lung RGD PMID:20856677 RGD:34888225 NCBI chr 1:212,565,407...212,620,777
Ensembl chr 1:212,565,334...212,620,777 		JBrowse link
G C3 complement C3 IEP RGD PMID:19472039 RGD:5129500 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562 		JBrowse link
G CCL1 C-C motif chemokine ligand 1 susceptibility ISO
IAGP		 mRNA:increased expression:lung, dendritic cell
DNA:SNP: :multiple (human)		 RGD PMID:18703681 PMID:19057661 RGD:4891409, RGD:4891408 NCBI chr17:34,360,328...34,363,233
Ensembl chr17:34,360,328...34,363,233 		JBrowse link
G CCL19 C-C motif chemokine ligand 19 ISO mRNA:increased expression:lung RGD PMID:19933855 RGD:5130906 NCBI chr 9:34,689,570...34,691,276
Ensembl chr 9:34,689,570...34,691,276 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 susceptibility IAGP
EXP		 DNA:polymorphism: :-2518A>G (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16352737 PMID:18940815 PMID:20111728 RGD:4891439 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G CCL5 C-C motif chemokine ligand 5 susceptibility IAGP
IEP		 DNA:snps:5' utr:g.-403G>A rs2280788, g.-28C>G rs2107538 (human)
mRNA:increased expression:lung (human)		 RGD PMID:19335954 PMID:15128813 RGD:4891879, RGD:4892112 NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793 		JBrowse link
G CCR2 C-C motif chemokine receptor 2 disease_progression ISO RGD PMID:11438742 RGD:734715 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940 		JBrowse link
G CCR5 C-C motif chemokine receptor 5 IEP protein:decreased expression:blood, T cell (human) RGD PMID:16379602 RGD:4892094 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206 		JBrowse link
G CD14 CD14 molecule susceptibility IEP
IAGP		 protein:increased expression:monocyte, serum
DNA:polymorphism:promoter:c. -159C>T (human)		 RGD PMID:18008256 PMID:18008256 RGD:4144205, RGD:4144205 NCBI chr 5:140,631,732...140,633,701
Ensembl chr 5:140,631,728...140,633,700 		JBrowse link
G CD163 CD163 molecule exacerbates IEP protein:increased expression:blood plasma, CD14-positive monocyte (human)
protein:increased expression:blood serum (human)		 RGD PMID:27685837 PMID:27684274 RGD:127285801, RGD:127345136 NCBI chr12:7,470,811...7,503,777
Ensembl chr12:7,470,811...7,503,893 		JBrowse link
G CD1D CD1d molecule susceptibility IAGP DNA:SNPS, haplotype:intron, enhancer: (rs859009,rs859010, rs973742) (human) RGD PMID:30972222 RGD:127345096 NCBI chr 1:158,178,030...158,186,427
Ensembl chr 1:158,178,030...158,186,427 		JBrowse link
G CD209 CD209 molecule susceptibility EXP
IAGP		 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:39939062, RGD:39938981 NCBI chr19:7,739,993...7,747,534
Ensembl chr19:7,739,993...7,747,564 		JBrowse link
G CD274 CD274 molecule IEP protein:increased expression:Tcell, B cell, monocyte RGD PMID:23661793 RGD:40818418 NCBI chr 9:5,450,542...5,470,554
Ensembl chr 9:5,450,503...5,470,566 		JBrowse link
G CD36 CD36 molecule (CD36 blood group) susceptibility IAGP DNA:SNPs: :rs1194182, rs10499859(human) RGD PMID:28693442 RGD:41412192 NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277 		JBrowse link
G CD86 CD86 molecule IEP protein:decreased expression:sputum, macrophage (human) RGD PMID:17713660 RGD:4892339 NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139 		JBrowse link
G CLEC4M C-type lectin domain family 4 member M susceptibility ISO
IAGP		 DNA:repeats:exon 4: allele 4, allele 5, allele 9 (human) RGD PMID:19770268 PMID:24874302 PMID:17224292 RGD:39938983, RGD:39938981, RGD:39938987 NCBI chr19:7,763,243...7,769,605
Ensembl chr19:7,763,210...7,769,605 		JBrowse link
G CRP C-reactive protein severity IEP associated with HIV Infections RGD PMID:21219690 PMID:21197091 RGD:5131284, RGD:5131287 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589 		JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 treatment IEP RGD PMID:29843631 RGD:27095956 NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497 		JBrowse link
G CXCL2 C-X-C motif chemokine ligand 2 disease_progression ISO RGD PMID:20454613 RGD:5135037 NCBI chr 4:74,097,040...74,099,195
Ensembl chr 4:74,097,040...74,099,196 		JBrowse link
G CXCL5 C-X-C motif chemokine ligand 5 susceptibility ISO mRNA:increased expression:lung RGD PMID:16790804 RGD:5135246 NCBI chr 4:73,995,642...73,998,677
Ensembl chr 4:73,995,642...73,998,677 		JBrowse link
G CXCL6 C-X-C motif chemokine ligand 6 susceptibility ISO mRNA:increased expression:lung RGD PMID:16790804 RGD:5135246 NCBI chr 4:73,836,678...73,838,760
Ensembl chr 4:73,836,640...73,849,064 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 exacerbates IEP
HEP		 protein:increased expression:serum (human)
RNA:increased expression:blood plasma (human)		 RGD PMID:16001981 PMID:27434276 RGD:39939055, RGD:150523784 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716 		JBrowse link
G CYBA cytochrome b-245 alpha chain no_association IAGP DNA:SNPs:exons:214C>T (rs4673), 521C>T (rs17845095) (human) RGD PMID:16608528 RGD:4780358 NCBI chr16:88,643,289...88,651,053
Ensembl chr16:88,643,275...88,651,083 		JBrowse link
G DDIT3 DNA damage inducible transcript 3 IEP mRNA,protein:increased expression:lung RGD PMID:20856677 RGD:34888225 NCBI chr12:57,516,588...57,520,517
Ensembl chr12:57,516,588...57,521,737 		JBrowse link
G EGFR epidermal growth factor receptor disease_progression IAGP associated with lung adenocarcinoma; RGD PMID:29621876 PMID:22173705 RGD:38599162, RGD:38599176 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628 		JBrowse link
G EREG epiregulin susceptibility IAGP DNA:SNP:exon 4: (rs2367707) (human) RGD PMID:30634928 RGD:39457687 NCBI chr 4:74,365,145...74,388,749
Ensembl chr 4:74,365,145...74,388,749 		JBrowse link
G FOXP3 forkhead box P3 susceptibility IAGP DNA:polymorphism:promoter:-924A>G(human) RGD PMID:29020928 RGD:38501101 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G GBE1 1,4-alpha-glucan branching enzyme 1 IAGP DNA:SNP:intron:rs2307058 (human) RGD PMID:28355295 RGD:18337291 NCBI chr 3:81,489,703...81,761,645
Ensembl chr 3:81,489,703...81,761,645 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility IAGP associated with GSTT1 null deletion; DNA:deletion: : RGD PMID:20297661 RGD:4140932 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039 		JBrowse link
G GSTT1 glutathione S-transferase theta 1 susceptibility IAGP DNA:deletion: : RGD PMID:20297661 RGD:4140932
G HAVCR2 hepatitis A virus cellular receptor 2 IEP RGD PMID:21382414 RGD:5135524 NCBI chr 5:157,085,832...157,109,044
Ensembl chr 5:157,085,422...157,142,869 		JBrowse link
G HLA-DPB1 major histocompatibility complex, class II, DP beta 1 IAGP RGD PMID:18652916 RGD:5144001 NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,936...33,089,696 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 disease_progression
susceptibility		 IAGP DNA:polymorphisms (human)
DNA:polymorphism: :HLA-DQB1*3:03(human)
DNA:polymorphism:cds:HLA-DQB1*0201(human)		 RGD PMID:19230186 PMID:28612994 PMID:24024195 RGD:5147614, RGD:36049765, RGD:36049753 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP DNA:polymorphism:cds:HLA-DRB1*0201(human)
DNA:polymorphism: :HLA-DRB1*09:01(human)		 RGD PMID:24024195 PMID:28612994 RGD:36049753, RGD:36049765 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G IDO1 indoleamine 2,3-dioxygenase 1 treatment IEP RGD PMID:32369456 RGD:39939073 NCBI chr 8:39,913,891...39,928,790
Ensembl chr 8:39,902,275...39,928,790 		JBrowse link
G IL13 interleukin 13 IEP mRNA:increased expression:Leukocytes, Mononuclear RGD PMID:10608794 RGD:4145649 NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110 		JBrowse link
G IL15 interleukin 15 IEP mRNA, protein:increased expression:lung RGD PMID:11742275 RGD:4990461 NCBI chr 4:141,636,583...141,733,987
Ensembl chr 4:141,636,583...141,733,987 		JBrowse link
G IL18 interleukin 18 IEP protein:increased expression:serum RGD PMID:15955140 RGD:4889836 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096 		JBrowse link
G IL1A interleukin 1 alpha ISO RGD PMID:9176116 RGD:4142835 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493 		JBrowse link
G IL1B interleukin 1 beta severity
susceptibility		 IEP
IAGP		 protein:increased expression:lung
DNA:polymorphism: :3953T>C (human)
protein:increased expression:bronchioalveolar lavage fluid (human)		 RGD PMID:10543265 PMID:16634865 PMID:10631206 RGD:4143180, RGD:5147843, RGD:4143179 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816 		JBrowse link
G IL1RL1 interleukin 1 receptor like 1 ISO RGD PMID:28128217 RGD:39938965 NCBI chr 2:102,311,563...102,352,356
Ensembl chr 2:102,311,502...102,352,037 		JBrowse link
G IL1RN interleukin 1 receptor antagonist severity IEP
IDA		 protein:increased expression:lung, serum RGD PMID:10543265 PMID:14619382 PMID:10631206 RGD:4143180, RGD:4143174, RGD:4143179 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G IL23A interleukin 23 subunit alpha ISO mRNA:increased expression:lung (mouse) RGD PMID:16002675 PMID:21156751 PMID:20624887 PMID:11801672 RGD:39457949, RGD:39458038, RGD:39458036, RGD:39457953 NCBI chr12:56,338,884...56,340,410
Ensembl chr12:56,334,174...56,340,410 		JBrowse link
G IL27 interleukin 27 exacerbates IAGP DNA:SNPs:promoter, exon:-964A>G, 2905T>G (human)
DNA:SNPs:promoter,exons:-964A>G, 2905T>G, 4730T>C (rs153109, rs17855750, rs181206) (human)		 RGD PMID:31949807 PMID:30948177 RGD:126790508, RGD:39456132 NCBI chr16:28,499,362...28,506,834
Ensembl chr16:28,499,362...28,512,051 		JBrowse link
G IL27RA interleukin 27 receptor subunit alpha ISO RGD PMID:15749890 RGD:5128486 NCBI chr19:14,031,762...14,053,218
Ensembl chr19:14,031,762...14,053,218 		JBrowse link
G IL32 interleukin 32 treatment IEP RGD PMID:31378983 RGD:150340743 NCBI chr16:3,065,403...3,069,530
Ensembl chr16:3,065,297...3,082,192 		JBrowse link
G IL33 interleukin 33 ISO RGD PMID:28128217 RGD:39938965 NCBI chr 9:6,215,149...6,257,983
Ensembl chr 9:6,215,786...6,257,983 		JBrowse link
G IL4 interleukin 4 severity ISO RGD PMID:20832364 RGD:5128550 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678 		JBrowse link
G IL4R interleukin 4 receptor IEP protein:decreased expression:serum RGD PMID:21251883 RGD:5128510 NCBI chr16:27,313,756...27,364,778
Ensembl chr16:27,313,668...27,364,778 		JBrowse link
G IL6 interleukin 6 IEP RGD PMID:20624776 RGD:4143257 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G IL6R interleukin 6 receptor IEP protein:decreased expression:T cell RGD PMID:20019339 RGD:5128632 NCBI chr 1:154,405,343...154,469,450
Ensembl chr 1:154,405,193...154,469,450 		JBrowse link
G IRF1 interferon regulatory factor 1 ISO RGD PMID:11083808 RGD:5128719 NCBI chr 5:132,481,609...132,490,773
Ensembl chr 5:132,440,440...132,508,719 		JBrowse link
G ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 IEP protein:increased expression:urine RGD PMID:29636444 RGD:40903003 NCBI chr 3:52,812,962...52,830,672
Ensembl chr 3:52,812,962...52,830,688 		JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit IDA protein:decreased phosphorylation:macrophage, nucleus RGD PMID:19737230 RGD:4889999 NCBI chr 1:58,780,791...58,784,047
Ensembl chr 1:58,776,845...58,784,048 		JBrowse link
G KIR3DS1 killer cell immunoglobulin like receptor, three Ig domains and short cytoplasmic tail 1 susceptibility IAGP DNA:deletion: RGD PMID:22653583 RGD:150340566
G LCN2 lipocalin 2 exacerbates
disease_progression		 ISO RGD PMID:19050270 PMID:30534124 RGD:126779558, RGD:126779565 NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453 		JBrowse link
G LTA lymphotoxin alpha susceptibility IAGP DNA:polymorphism:intron:252G>A (human) RGD PMID:20180006 RGD:4143234 NCBI chr 6:31,560,610...31,574,324
Ensembl chr 6:31,572,054...31,574,324 		JBrowse link
G MARCO macrophage receptor with collagenous structure susceptibility IAGP DNA:SNP: :rs12998782(human)
DNA:SNPs:introns:rs4491733,rs12998782,rs13389814,rs7559955 (human)
DNA:SNPs: :rs2278589, rs6751745,rs6748401 (human)		 RGD PMID:28693442 PMID:23617307 PMID:27853145 RGD:41412192, RGD:41412195, RGD:41412194 NCBI chr 2:118,942,194...118,994,660
Ensembl chr 2:118,942,194...118,994,660 		JBrowse link
G MBL2 mannose binding lectin 2 IAGP DNA:polymorphisms:5' utr, exon:multiple (human) RGD PMID:19199550 RGD:4889452 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784 		JBrowse link
G MIF macrophage migration inhibitory factor susceptibility IAGP DNA:SNP: :rs755622 (human) RGD PMID:20439102 RGD:4891004 NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227 		JBrowse link
G MIR30A microRNA 30a disease_progression IEP RGD PMID:25866116 RGD:35668864 NCBI chr 6:71,403,551...71,403,621
Ensembl chr 6:71,403,551...71,403,621 		JBrowse link
G MMP3 matrix metallopeptidase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24890593 NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609 		JBrowse link
G MMP7 matrix metallopeptidase 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24890593 NCBI chr11:102,520,508...102,530,747
Ensembl chr11:102,520,508...102,530,750 		JBrowse link
G MMP8 matrix metallopeptidase 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24890593 NCBI chr11:102,711,796...102,724,954
Ensembl chr11:102,711,796...102,727,050 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:16982845 RGD:5130746 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G NAT2 N-acetyltransferase 2 susceptibility IAGP RGD PMID:20297661 RGD:4140932 NCBI chr 8:18,386,301...18,401,218
Ensembl chr 8:18,391,282...18,401,218 		JBrowse link
G NFKBIA NFKB inhibitor alpha IEP mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:9379002 RGD:126908014 NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 susceptibility IAGP DNA:SNPs:CDs:p.P268S, R702W, A725G (human) RGD PMID:18419343 RGD:5131510 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077 		JBrowse link
G NOS2 nitric oxide synthase 2 IAGP DNA:SNPs:multiple (human) RGD PMID:19575238 RGD:4144122 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529 		JBrowse link
G PDCD1 programmed cell death 1 treatment IEP protein:increased expression:Tcell, B cell, monocyte RGD PMID:23661793 PMID:23661793 RGD:40818418, RGD:40818418 NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894 		JBrowse link
G PDCD1LG2 programmed cell death 1 ligand 2 IEP protein:increased expression:Tcell, B cell, monocyte RGD PMID:23661793 RGD:40818418 NCBI chr 9:5,510,531...5,571,282
Ensembl chr 9:5,510,531...5,571,282 		JBrowse link
G PLAUR plasminogen activator, urokinase receptor severity IEP RGD PMID:18359089 RGD:6483832 NCBI chr19:43,646,095...43,670,169
Ensembl chr19:43,646,095...43,670,547 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP DNA:SNPs:cds:788G>A, 1858C>T (human) RGD PMID:19563523 RGD:6484723 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G SFTPA1 surfactant protein A1 susceptibility IAGP DNA:SNP:intron:1416C>T (human)
DNA:SNPs:exons:307G>A, 776C>T (human)		 RGD PMID:12476938 PMID:16292672 RGD:4144875, RGD:4144874 NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455 		JBrowse link
G SLC11A1 solute carrier family 11 member 1 susceptibility IAGP DNA:polymorphism:intron (human)
DNA:deletion:3'UTR:		 RGD PMID:21169917 PMID:24024195 RGD:5684974, RGD:36049753 NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894 		JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member IAGP associated with HIV Infections; RGD PMID:21843574 RGD:6482248 NCBI chr 6:32,845,209...32,853,704
Ensembl chr 6:32,845,209...32,853,816 		JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility IAGP DNA:polymorphism: : RGD PMID:9062973 RGD:5147851 NCBI chr 6:32,821,831...32,838,739
Ensembl chr 6:32,821,833...32,838,739 		JBrowse link
G TLR1 toll like receptor 1 IEP mRNA:increased expression:blood RGD PMID:16493059 RGD:4889525 NCBI chr 4:38,787,569...38,805,644
Ensembl chr 4:38,790,677...38,856,817 		JBrowse link
G TLR2 toll like receptor 2 susceptibility IEP
IAGP		 mRNA, protein:increased expression:blood, T cell
DNA:SNP: :rs1816702 (human)
DNA:polymorphism:intron (human)
DNA:polymorphisms: :multiple (human)		 RGD PMID:19552525 PMID:19723394 PMID:20298136 PMID:20113509 RGD:4145355, RGD:4145323, RGD:4145304, RGD:4145320 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260 		JBrowse link
G TLR4 toll like receptor 4 susceptibility
severity		 IEP
IAGP		 protein:increased expression:monocyte
DNA:SNP:intron: rs5030729 (human)
DNA:polymorphisms:cds: p. D299F, T399I (human)		 RGD PMID:18008256 PMID:19575238 PMID:20403143 RGD:4144205, RGD:4144122, RGD:4144106 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735 		JBrowse link
G TLR9 toll like receptor 9 IAGP DNA:snps:multiple (human) RGD PMID:19771452 RGD:5130704 NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645 		JBrowse link
G TNF tumor necrosis factor disease_progression
susceptibility		 IDA
ISO
IAGP		 DNA:polymorphisms::c.-857 C>T, c. -863 A>C (human) RGD PMID:18212516 PMID:9176116 PMID:20650298 RGD:4143395, RGD:4142835, RGD:4143388 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TREM1 triggering receptor expressed on myeloid cells 1 disease_progression IEP RGD PMID:29844416 RGD:126925977 NCBI chr 6:41,267,385...41,286,682
Ensembl chr 6:41,267,926...41,286,682 		JBrowse link
G VDR vitamin D receptor susceptibility IAGP DNA:SNPs:5' UTR (human)
DNA:SNP (human)
DNA:SNPs:promoter, 3' UTR (human)
DNA:SNPs (human)		 RGD PMID:18397302 PMID:20231985 PMID:17236578 PMID:18231846 PMID:15295697 RGD:4889842, RGD:4889830, RGD:4889849, RGD:4889845, RGD:4889853 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		JBrowse link
renal tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL4R interleukin 4 receptor IEP
IAGP		 protein:decreased expression:serum
DNA:polymorphism:cds:p.I50V (human)		 RGD PMID:21251883 PMID:19548368 RGD:5128510, RGD:7207069 NCBI chr16:27,313,756...27,364,778
Ensembl chr16:27,313,668...27,364,778 		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 5:139,475,533...139,482,758
Ensembl chr 5:139,475,533...139,482,935 		JBrowse link
Spinal Tuberculoses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP DNA:missense mutation:CDS:c.592C>G (p.Q198E) (human) RGD PMID:29795056 RGD:126928140 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		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 IAGP DNA:polymorphism: : RGD PMID:9062973 RGD:5147851 NCBI chr 6:32,821,831...32,838,739
Ensembl chr 6:32,821,833...32,838,739 		JBrowse link
G VDR vitamin D receptor IEA GAD PMID:15118671 RGD:1331525 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		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 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322 		JBrowse link
G BTNL2 butyrophilin like 2 susceptibility
no_association		 IAGP DNA:SNPs,haplotypes: : rs3763313, rs9268494, rs9268492(human) RGD PMID:20176143 PMID:17347014 RGD:9685035, RGD:9685036 NCBI chr 6:32,393,339...32,407,181
Ensembl chr 6:32,393,339...32,407,181 		JBrowse link
G CBS cystathionine beta-synthase severity ISO protein:increased expression:macrophages (mouse) RGD PMID:31992699 PMID:31992699 RGD:40903052, RGD:40903052 NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943 		JBrowse link
G CCL1 C-C motif chemokine ligand 1 susceptibility IAGP DNA:SNP: :rs159294, rs210837, rs10491110 (human) RGD PMID:19057661 RGD:4891408 NCBI chr17:34,360,328...34,363,233
Ensembl chr17:34,360,328...34,363,233 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 IAGP ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to ClinVar PMID:11500196 PMID:15466648 PMID:16352737 PMID:16596675 PMID:18940815 More... NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G CCL4 C-C motif chemokine ligand 4 severity HEP associated with human immunodeficiency virus infectious disease;protein:increased expression:blood plasma (human) RGD PMID:31276515 RGD:41404639 NCBI chr17:36,103,827...36,105,614
Ensembl chr17:36,103,827...36,105,621 		JBrowse link
G CD209 CD209 molecule IEP
IAGP
IMP		 ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to OMIM
ClinVar
RGD		 PMID:15564514 PMID:15838506 PMID:16379498 PMID:25741868 PMID:21454357 More... RGD:5131181, RGD:5131186 NCBI chr19:7,739,993...7,747,534
Ensembl chr19:7,739,993...7,747,564 		JBrowse link
G CD274 CD274 molecule IEP mRNA, protein:increased expression:blood, neutrophil RGD PMID:21509782 RGD:41412173 NCBI chr 9:5,450,542...5,470,554
Ensembl chr 9:5,450,503...5,470,566 		JBrowse link
G CD86 CD86 molecule ISO protein:increased expression:lung (mouse) RGD PMID:18292558 RGD:4892329 NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139 		JBrowse link
G CD8A CD8 subunit alpha susceptibility HEP associated with human immunodeficiency virus infectious disease;mRNA:increased expression:whole blood (human)
mRNA:decreased expression:blood (human)		 RGD PMID:27553407 PMID:26725873 RGD:124715445, RGD:124715450 NCBI chr 2:86,784,605...86,808,396
Ensembl chr 2:86,784,610...86,808,396 		JBrowse link
G CEBPB CCAAT enhancer binding protein beta ISO mRNA:increased expression:lung, spleen (mouse) RGD PMID:28558034 RGD:40903038 NCBI chr20:50,190,583...50,192,690
Ensembl chr20:50,190,830...50,192,668 		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 (mouse) RGD PMID:12828554 RGD:5491205 NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021 		JBrowse link
G CISH cytokine inducible SH2 containing protein susceptibility IAGP ClinVar Annotator: match by term: Tuberculosis, susceptibility to ClinVar
OMIM		 PMID:20484391 NCBI chr 3:50,606,489...50,611,774
Ensembl chr 3:50,606,489...50,611,774 		JBrowse link
G CORO1A coronin 1A EXP CTD Direct Evidence: marker/mechanism CTD PMID:16040207 NCBI chr16:30,183,602...30,189,076
Ensembl chr16:30,182,827...30,189,076 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 susceptibility IAGP
IEP		 DNA:SNP:promoter:-251A>T (human)
protein:increased expression:blood plasma, erythrocyte (human)		 RGD PMID:32393145 PMID:26300588 RGD:150520198, RGD:11250849 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716 		JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 IEP protein:increased expression:serum RGD PMID:19281538 RGD:5135308 NCBI chr 4:76,001,275...76,007,509
Ensembl chr 4:76,001,275...76,007,509 		JBrowse link
G CYP2B6 cytochrome P450 family 2 subfamily B member 6 treatment IAGP 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 chr19:40,991,282...41,018,398
Ensembl chr19:40,991,282...41,018,398 		JBrowse link
G CYP2C19 cytochrome P450 family 2 subfamily C member 19 treatment IAGP DNA:polymorphisms:: CYP2C19*17(rs12248560),CYP2C19*2 (c.681C>A; rs4244285)(human) RGD PMID:27393733 RGD:124713542 NCBI chr10:94,762,681...94,855,547
Ensembl chr10:94,762,681...94,855,547 		JBrowse link
G EREG epiregulin susceptibility IAGP DNA:SNP:intron: (rs7675690) (human) RGD PMID:22170233 RGD:39457686 NCBI chr 4:74,365,145...74,388,749
Ensembl chr 4:74,365,145...74,388,749 		JBrowse link
G HAS1 hyaluronan synthase 1 ISO RGD PMID:19876387 RGD:9588638 NCBI chr19:51,713,112...51,723,991
Ensembl chr19:51,713,112...51,723,991 		JBrowse link
G HLA-A major histocompatibility complex, class I, A susceptibility IAGP associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-A31 RGD PMID:19030725 RGD:36049809 NCBI chr 6:29,942,532...29,945,870
Ensembl chr 6:29,941,260...29,949,572 		JBrowse link
G HLA-B major histocompatibility complex, class I, B susceptibility IAGP associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-B41 RGD PMID:19030725 RGD:36049809 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26829749 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-DQB1*05 RGD PMID:19030725 RGD:36049809 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP DNA:polymorphism (human)
associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-BRB1*10		 RGD PMID:21251479 PMID:19030725 PMID:17153701 RGD:5147605, RGD:36049809, RGD:5147633 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HP haptoglobin EXP CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055 		JBrowse link
G IFNG interferon gamma IAGP ClinVar Annotator: match by term: Mycobacterium tuberculosis, protection against ClinVar
OMIM		 PMID:10663562 PMID:11053629 PMID:12788577 PMID:18414898 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G IFNGR1 interferon gamma receptor 1 susceptibility IAGP ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
ClinVar Annotator: match by term: Mycobacterium tuberculosis, protection against		 OMIM
ClinVar
RGD		 PMID:9389728 PMID:10192386 PMID:11583830 PMID:12516030 PMID:16195661 More... RGD:4144122 NCBI chr 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449 		JBrowse link
G IL12RB1 interleukin 12 receptor subunit beta 1 IAGP ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to ClinVar PMID:9603733 PMID:12591909 PMID:28492532 NCBI chr19:18,058,995...18,098,816
Ensembl chr19:18,058,995...18,098,944 		JBrowse link
G IL15 interleukin 15 ISO mRNA:altered expression:lung, spleen RGD PMID:16367949 RGD:4987456 NCBI chr 4:141,636,583...141,733,987
Ensembl chr 4:141,636,583...141,733,987 		JBrowse link
G IL22 interleukin 22 IEP RGD PMID:21767990 RGD:5147402 NCBI chr12:68,248,242...68,253,604
Ensembl chr12:68,248,242...68,253,604 		JBrowse link
G IL27 interleukin 27 exacerbates IEP
HEP		 associated with Pleural Effusion;protein:increased expression:pleural effusion (human)
mRNA:increased expression:blood (human)		 RGD PMID:25511588 PMID:26282876 RGD:126790514, RGD:11086047 NCBI chr16:28,499,362...28,506,834
Ensembl chr16:28,499,362...28,512,051 		JBrowse link
G IL33 interleukin 33 IEP associated with Pleural Effusion;protein:increased expression:pleural biopsy RGD PMID:25755791 RGD:40400701 NCBI chr 9:6,215,149...6,257,983
Ensembl chr 9:6,215,786...6,257,983 		JBrowse link
G IRAK3 interleukin 1 receptor associated kinase 3 IEP mRNA, protein:increased expression:sputum (human) RGD PMID:19535630 RGD:36049800 NCBI chr12:66,189,214...66,254,622
Ensembl chr12:66,189,195...66,254,622 		JBrowse link
G IRGM immunity related GTPase M IAGP OMIM NCBI chr 5:150,846,521...150,902,402
Ensembl chr 5:150,846,521...150,900,736 		JBrowse link
G KIR3DL1 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 susceptibility IAGP DNA:deletion:cds RGD PMID:23073291 RGD:38676470 NCBI chr19:54,816,468...54,830,778
Ensembl chr19:54,816,468...54,830,778 		JBrowse link
G KIR3DS1 killer cell immunoglobulin like receptor, three Ig domains and short cytoplasmic tail 1 susceptibility IAGP DNA:deletion: (human) RGD PMID:22426166 PMID:26542219 RGD:150340565, RGD:150340584
G KLRK1 killer cell lectin like receptor K1 treatment ISO
IEP		 RGD PMID:16619285 PMID:23922903 RGD:39018558, RGD:39128143 NCBI chr12:10,372,353...10,390,041
Ensembl chr12:10,372,353...10,391,874 		JBrowse link
G LOC117307477 CD209 promoter region IAGP ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to ClinVar PMID:15564514 PMID:15838506 PMID:16379498 NCBI chr19:7,747,412...7,749,177 JBrowse link
G LOC126862536 BRD4-independent group 4 enhancer GRCh37_chr17:32578883-32580082 IAGP ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to ClinVar PMID:11500196 PMID:15466648 PMID:16352737 PMID:16596675 PMID:18940815 More... NCBI chr17:34,251,864...34,253,063 JBrowse link
G LOC129936806 ATAC-STARR-seq lymphoblastoid silent region 14400 IAGP ClinVar Annotator: match by term: Tuberculosis, susceptibility to ClinVar PMID:20484391 NCBI chr 3:50,611,643...50,612,122 JBrowse link
G MAPKAPK3 MAPK activated protein kinase 3 IAGP ClinVar Annotator: match by term: Tuberculosis, susceptibility to ClinVar PMID:20484391 NCBI chr 3:50,611,520...50,649,291
Ensembl chr 3:50,611,520...50,649,291 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 treatment IAGP DNA:SNPs,haplotype: :rs4243387,rs2001350,rs6726395(human) RGD PMID:31586142 RGD:42722614 NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756 		JBrowse link
G NRG1 neuregulin 1 susceptibility IAGP DNA:SNP, haplotype: (rs16879814) RGD PMID:25919455 RGD:39456091 NCBI chr 8:31,639,245...32,774,046
Ensembl chr 8:31,639,222...32,855,666 		JBrowse link
G PDCD1 programmed cell death 1 treatment IEP RGD PMID:27865385 RGD:41412174 NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894 		JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO RGD PMID:30514491 RGD:38599199 NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980 		JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 exacerbates ISO RGD PMID:29892302 RGD:127229926 NCBI chr14:24,336,025...24,339,991
Ensembl chr14:24,336,025...24,340,022 		JBrowse link
G SLC11A1 solute carrier family 11 member 1 susceptibility IEA
IAGP
EXP		 ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to infection by
CTD Direct Evidence: marker/mechanism
DNA:insertion, polymorphism:3' utr:p.D543N (human)		 ClinVar
OMIM
CTD
RGD		 PMID:16103355 PMID:16597321 PMID:25741868 PMID:15118671 PMID:19863441 RGD:1331525, RGD:5684931 NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894 		JBrowse link
G SP110 SP110 nuclear body protein IAGP ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to ClinVar
OMIM		 PMID:16803959 PMID:16816019 PMID:17149599 PMID:24033266 PMID:25741868 More... NCBI chr 2:230,165,186...230,225,636
Ensembl chr 2:230,165,186...230,225,729 		JBrowse link
G SP140 SP140 nuclear body protein IAGP ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to ClinVar PMID:16803959 PMID:16816019 PMID:17149599 PMID:25741868 PMID:28492532 NCBI chr 2:230,186,151...230,316,571
Ensembl chr 2:230,203,110...230,313,215 		JBrowse link
G SPP1 secreted phosphoprotein 1 IDA RGD PMID:15863395 RGD:1581371 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532 		JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 ISO RGD PMID:29791904 RGD:39128196 NCBI chr 5:139,475,533...139,482,758
Ensembl chr 5:139,475,533...139,482,935 		JBrowse link
G TIRAP TIR domain containing adaptor protein EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to		 CTD
OMIM
ClinVar		 PMID:16991088 PMID:17322885 PMID:18305471 PMID:25741868 NCBI chr11:126,283,093...126,294,933
Ensembl chr11:126,282,497...126,298,845 		JBrowse link
G TLR1 toll like receptor 1 susceptibility IAGP DNA:snps, haplotype:cds:p.N248S, p.S602I (human) RGD PMID:18091991 RGD:7246918 NCBI chr 4:38,787,569...38,805,644
Ensembl chr 4:38,790,677...38,856,817 		JBrowse link
G TLR2 toll like receptor 2 susceptibility IAGP ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to ClinVar
OMIM		 PMID:14979495 PMID:16081826 PMID:22992740 PMID:25741868 PMID:28492532 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260 		JBrowse link
G TLR4 toll like receptor 4 ISO RGD PMID:12218133 RGD:4144821 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735 		JBrowse link
G TLR6 toll like receptor 6 susceptibility IAGP DNA:missense mutations:cds:multiple (human) RGD PMID:18091991 RGD:7246918 NCBI chr 4:38,822,897...38,868,390
Ensembl chr 4:38,822,897...38,856,817 		JBrowse link
G TNF tumor necrosis factor IEP protein:increased expression:serum RGD PMID:20537163 RGD:4143229 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B IAGP DNA:snp:3' utr:g.*215C>T rs3397 (human) RGD PMID:20007930 RGD:5131209 NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228 		JBrowse link
G TNFSF8 TNF superfamily member 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30202016 NCBI chr 9:114,893,343...114,930,595
Ensembl chr 9:114,893,343...114,930,595 		JBrowse link
G VDR vitamin D receptor susceptibility IAGP associated with HIV Infections;DNA:SNPs:3' UTR (human) RGD PMID:18712587 RGD:4889839 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97544
    disease by infectious agent 4419
      Bacterial Infections and Mycoses 1759
        bacterial infectious disease 1405
          Gram-Positive Bacterial Infections 742
            Actinomycetales Infections 618
              Mycobacterium Infections 617
                Immunodeficiency 86 1
                Immunodeficiency 88 1
                Nontuberculous Mycobacterium Infections + 309
                Paratuberculosis 6
                immunodeficiency 31B 19
                leprosy + 144
                tuberculosis + 165
paths to the root