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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:bacterial infectious disease
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Accession:DOID:104 term browser browse the term
Definition:A disease by infectious agent that results_in infection, has_material_basis_in Bacteria. (DO)
Synonyms:exact_synonym: bacterial infection;   bacterial infections
 primary_id: MESH:D001424
 xref: EFO:0000771;   ICD10CM:A49.9;   NCI:C2890
For additional species annotation, visit the Alliance of Genome Resources.



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bacterial infectious disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASP3 caspase 3 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:16443785 RGD:2311430 NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,650,062
JBrowse link
G CASP8 caspase 8 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:16443785 RGD:2311430 NCBI chr 2:201,233,463...201,287,711
Ensembl chr 2:201,233,443...201,361,836
JBrowse link
G CASP9 caspase 9 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:16443785 RGD:2311430 NCBI chr 1:15,491,401...15,524,912
Ensembl chr 1:15,490,832...15,526,534
JBrowse link
G CRP C-reactive protein IEP RGD PMID:23937512 RGD:9495911 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G DOCK8 dedicator of cytokinesis 8 susceptibility IAGP DNA:mutations: : RGD PMID:25724123 RGD:40886274 NCBI chr 9:211,257...465,255
Ensembl chr 9:214,854...465,259
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 onset IAGP associated with Cystic Fibrosis;DNA:polymorphism (human) RGD PMID:16987934 RGD:5147635 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 onset IAGP associated with Cystic Fibrosis;DNA:polymorphism (human) RGD PMID:16987934 RGD:5147635 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G IL10 interleukin 10 IEP associated with Otitis Media RGD PMID:22668804 RGD:7364828 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL2 interleukin 2 IEP associated with Diabetes Mellitus, Type 2;protein:decreased expression:blood RGD PMID:21574159 RGD:5147907 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
JBrowse link
G MBL2 mannose binding lectin 2 susceptibility IAGP associated with Precursor B-Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphism:exon: RGD PMID:24453114 RGD:11530056 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 ISO associated with Virus Diseases RGD PMID:21669398 RGD:5508748 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
JBrowse link
G SDC4 syndecan 4 ISO RGD PMID:15001228 RGD:2312325 NCBI chr20:45,325,288...45,348,424
Ensembl chr20:45,325,288...45,348,424
JBrowse link
G TBCE tubulin folding cofactor E EXP CTD Direct Evidence: marker/mechanism CTD PMID:12389028 NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443
JBrowse link
acquired immunodeficiency syndrome 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:haplotype: :3435T>C((rs1045642), 2677T>G (rs2032582) (human)
DNA:SNP: : rs10276036(human)
RGD PMID:23372834 PMID:24517233 RGD:39456119, RGD:11098698 NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323
JBrowse link
G ARHGAP44 Rho GTPase activating protein 44 disease_progression IAGP DNA:SNPs, haplotype:intron, exon: (rs2072255, rs2072254) (human)
DNA:SNP:intron: (rs2072255) (human)
RGD PMID:28069446 PMID:21107268 RGD:401901288, RGD:401901289 NCBI chr17:12,789,498...12,991,643
Ensembl chr17:12,789,498...12,991,643
JBrowse link
G BST2 bone marrow stromal cell antigen 2 IAGP DNA:SNPs: : RGD PMID:26885809 RGD:14398494 NCBI chr19:17,402,939...17,405,630
Ensembl chr19:17,402,939...17,405,630
JBrowse link
G CCL4 C-C motif chemokine ligand 4 IAGP DNA:SNP:3' utr:rs1719153 (human) RGD PMID:16773571 RGD:5683896 NCBI chr17:36,103,827...36,105,614
Ensembl chr17:36,103,827...36,105,621
JBrowse link
G CCR5 C-C motif chemokine receptor 5 IAGP ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, delayed progression to ClinVar PMID:9742978 PMID:12610055 PMID:12815099 PMID:25741868 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
JBrowse link
G CCR5AS CCR5 antisense RNA IAGP ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, delayed progression to ClinVar PMID:9742978 PMID:12610055 PMID:12815099 PMID:25741868 NCBI chr 3:46,363,984...46,407,066
Ensembl chr 3:46,364,391...46,407,117
JBrowse link
G CD209 CD209 molecule disease_progression IAGP associated with factor VIII deficiency; DNA:SNP:promoter: g.-139C>T (rs2287886) (human) RGD PMID:17530998 RGD:39939010 NCBI chr19:7,739,993...7,747,534
Ensembl chr19:7,739,993...7,747,564
JBrowse link
G CD40LG CD40 ligand treatment ISO RGD PMID:9499800 RGD:11344976 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility IAGP DNA:polymorphism:exon:p.K751Q(human) RGD PMID:20127180 RGD:5688740 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
JBrowse link
G HLA-A major histocompatibility complex, class I, A susceptibility IAGP 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 IDO1 indoleamine 2,3-dioxygenase 1 IEP associated with pulmonary tuberculosis;protein:increased expression:blood (human) 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 IFNA1 interferon alpha 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9612607 NCBI chr 9:21,440,439...21,441,316
Ensembl chr 9:21,440,439...21,441,316
JBrowse link
G IFNG interferon gamma IAGP
EXP
ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, rapid progression to
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9612607 PMID:12854077 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IFNL4 interferon lambda 4 (gene/pseudogene) susceptibility IAGP DNA: (ss469415590) (human) RGD PMID:25658540 RGD:40886300 NCBI chr19:39,246,314...39,248,856
Ensembl chr19:39,246,314...39,248,856
JBrowse link
G IGF2 insulin like growth factor 2 IEP protein:decreased expression:plasma RGD PMID:11232005 RGD:5509969 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
JBrowse link
G IL2 interleukin 2 EXP CTD Direct Evidence: therapeutic CTD PMID:9861562 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
JBrowse link
G KIR2DL1 killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 1 severity IAGP DNA:missense mutation:cds: p.I47V (rs643347) (human) RGD PMID:29461980 RGD:38676267 NCBI chr19:54,769,793...54,784,322
Ensembl chr19:54,769,793...54,784,322
JBrowse link
G KIR3DS1 killer cell immunoglobulin like receptor, three Ig domains and short cytoplasmic tail 1 disease_progression IGI DNA:CNV: (human) RGD PMID:12134147 RGD:150340564
G NCR1 natural cytotoxicity triggering receptor 1 IEP protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human) RGD PMID:27382604 RGD:40818276 NCBI chr19:54,898,198...54,938,208
Ensembl chr19:54,906,148...54,916,140
JBrowse link
G NCR3 natural cytotoxicity triggering receptor 3 IEP protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human) RGD PMID:27382604 RGD:40818276 NCBI chr 6:31,588,895...31,593,006
Ensembl chr 6:31,588,895...31,593,006
JBrowse link
G TNF tumor necrosis factor IEP RGD PMID:8548330 RGD:12904035 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A IEP RGD PMID:8548330 RGD:12904035 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B IEP RGD PMID:8548330 RGD:12904035 NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
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
Actinobacillus Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD163 CD163 molecule ISO protein:increased expression:lung (pig) RGD PMID:33287430 RGD:127345134 NCBI chr12:7,470,811...7,503,777
Ensembl chr12:7,470,811...7,503,893
JBrowse link
G DEFB1 defensin beta 1 ISO mRNA:increased expression:gingival epithelium RGD PMID:17076783 RGD:4892269 NCBI chr 8:6,870,592...6,877,936
Ensembl chr 8:6,870,592...6,877,936
JBrowse link
AIDS Dementia Complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADRB2 adrenoceptor beta 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27400929 NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623
JBrowse link
G EPO erythropoietin treatment IDA RGD PMID:20818790 RGD:10395393 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700
JBrowse link
G GC GC vitamin D binding protein IEP associated with HIV Infections;protein:increased expression:cerebrospinal fluid: RGD PMID:17929958 RGD:5509882 NCBI chr 4:71,741,693...71,805,520
Ensembl chr 4:71,741,696...71,804,041
JBrowse link
G IL1B interleukin 1 beta ISO protein:increased expression:neocortex RGD PMID:17678975 RGD:1626641 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G INSR insulin receptor severity IEP protein:increased expression:cerebrospinal fluid, plasma RGD PMID:22629383 RGD:10403033 NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414
JBrowse link
G IRS1 insulin receptor substrate 1 severity IDA protein:decreased tyrosine phosphorylation:cerebrospinal fluid, leukocyte RGD PMID:22629383 RGD:10403033 NCBI chr 2:226,731,312...226,799,820
Ensembl chr 2:226,731,312...226,799,820
JBrowse link
G NEFL neurofilament light chain IEP associated with HIV Seropositivity;protein:increased expression:plasma, CSF (human)
protein:increased expression:CSF (human)
RGD PMID:30105502 PMID:27400930 RGD:127284876, RGD:127284885 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721
JBrowse link
G NPY neuropeptide Y severity IEP protein:increased expression:cerebrospinal fluid RGD PMID:8815163 RGD:10431910 NCBI chr 7:24,284,190...24,291,862
Ensembl chr 7:24,284,188...24,291,862
JBrowse link
G OPRM1 opioid receptor mu 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27400929 NCBI chr 6:154,010,496...154,246,867
Ensembl chr 6:154,010,496...154,246,867
JBrowse link
G PDGFB platelet derived growth factor subunit B IEP RGD PMID:21368226 RGD:6482787 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
JBrowse link
G SLC6A4 solute carrier family 6 member 4 ISO RGD PMID:25404050 RGD:38676266 NCBI chr17:30,194,319...30,235,697
Ensembl chr17:30,194,319...30,236,002
JBrowse link
AIDS-Associated Nephropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGTR1 angiotensin II receptor type 1 ISO RGD PMID:2 RGD:1303381 NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008
JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO RGD PMID:2 RGD:1303381 NCBI chr  X:116,170,744...116,174,974
Ensembl chr  X:116,170,744...116,174,974
JBrowse link
G EGF epidermal growth factor IEP RGD PMID:19357719 RGD:6906909 NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766
JBrowse link
G HP haptoglobin IEP protein:increased expression:urine RGD PMID:19279121 RGD:11041816 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO
IMP
RGD PMID:23678040 PMID:23678040 RGD:7245474, RGD:7245474 NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556
JBrowse link
G MYH9 myosin heavy chain 9 IEP protein:decreased expression:glomerulus RGD PMID:22313957 RGD:6903274 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010
JBrowse link
G NOTCH4 notch receptor 4 IEP protein: increased expression: kidney RGD PMID:20706108 RGD:6480788 NCBI chr 6:32,194,843...32,224,067
Ensembl chr 6:32,194,843...32,224,067
JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin treatment ISO RGD PMID:19188342 PMID:17229913 RGD:38596324, RGD:38599164 NCBI chr19:35,862,915...35,869,357
Ensembl chr19:35,825,964...35,869,287
JBrowse link
AIDS-Related Complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KLRK1 killer cell lectin like receptor K1 treatment IEP RGD PMID:23018378 RGD:39018554 NCBI chr12:10,372,353...10,390,041
Ensembl chr12:10,372,353...10,391,874
JBrowse link
AIDS-Related Kaposi Sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCL2 BCL2 apoptosis regulator EXP CTD Direct Evidence: marker/mechanism CTD PMID:10861090 NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
JBrowse link
G IL32 interleukin 32 IEP mRNA:increased expression:zone of skin, blood serum (human) RGD PMID:29037857 RGD:150340744 NCBI chr16:3,065,403...3,069,530
Ensembl chr16:3,065,297...3,082,192
JBrowse link
AIDS-Related Opportunistic Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD4 CD4 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:9546790 NCBI chr12:6,789,528...6,820,799
Ensembl chr12:6,786,858...6,820,799
JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9379333 NCBI chr 1:12,063,303...12,144,207
Ensembl chr 1:12,063,303...12,144,207
JBrowse link
anogenital venereal wart term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL20 C-C motif chemokine ligand 20 IEP protein:decreased expression:skin RGD PMID:17545018 RGD:7483603 NCBI chr 2:227,813,842...227,817,556
Ensembl chr 2:227,805,739...227,817,564
JBrowse link
G CD8A CD8 subunit alpha HEP mRNA:decreased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr 2:86,784,605...86,808,396
Ensembl chr 2:86,784,610...86,808,396
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
JBrowse link
G FOXP3 forkhead box P3 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800
JBrowse link
G IFNA6 interferon alpha 6 treatment IEP RGD PMID:25774455 RGD:36174028 NCBI chr 9:21,350,318...21,350,887
Ensembl chr 9:21,350,253...21,350,956
JBrowse link
G IL10 interleukin 10 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL12B interleukin 12B treatment IEP protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559 PMID:23754510 RGD:7829774, RGD:40400714 NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863
JBrowse link
G IL2 interleukin 2 IEP protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
JBrowse link
G IL21 interleukin 21 IEP protein:decreased expression:blood serum (human) RGD PMID:31414711 RGD:127285371 NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066
JBrowse link
G IL4 interleukin 4 treatment IEP protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559 PMID:23754510 RGD:7829774, RGD:40400714 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
JBrowse link
G IL6 interleukin 6 IEP protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G KLRK1 killer cell lectin like receptor K1 IEP mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr12:10,372,353...10,390,041
Ensembl chr12:10,372,353...10,391,874
JBrowse link
G MAPK8 mitogen-activated protein kinase 8 treatment HEP mRNA:increased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr10:48,306,677...48,439,360
Ensembl chr10:48,306,639...48,439,360
JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,552...38,143,024
JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 IEP mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr19:54,898,198...54,938,208
Ensembl chr19:54,906,148...54,916,140
JBrowse link
G PDCD1 programmed cell death 1 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IEP protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 IEP protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr12:6,946,577...6,961,316
Ensembl chr12:6,946,468...6,961,316
JBrowse link
G SERPINF1 serpin family F member 1 disease_progression IEP mRNA, protein:decreased expression:skin of body (human) RGD PMID:23569025 RGD:27226706 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
JBrowse link
G TGFB1 transforming growth factor beta 1 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TLR2 toll like receptor 2 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
JBrowse link
G TLR3 toll like receptor 3 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:186,069,156...186,088,073
Ensembl chr 4:186,068,911...186,088,073
JBrowse link
G TLR4 toll like receptor 4 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
G TLR7 toll like receptor 7 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:12,867,072...12,890,361
Ensembl chr  X:12,867,072...12,890,361
JBrowse link
G TLR8 toll like receptor 8 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:12,906,620...12,923,169
Ensembl chr  X:12,906,620...12,923,169
JBrowse link
G TLR9 toll like receptor 9 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 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 IEP protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:1,203,508...1,206,592
Ensembl chr 1:1,203,508...1,206,592
JBrowse link
anthrax disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANTXR2 ANTXR cell adhesion molecule 2 ISO RGD PMID:17054395 RGD:1599126 NCBI chr 4:79,901,146...80,073,472
Ensembl chr 4:79,901,146...80,125,454
JBrowse link
G ELANE elastase, neutrophil expressed ISO protein:increased expression:plasma: RGD PMID:19049643 RGD:10450550 NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247
JBrowse link
G IL1B interleukin 1 beta disease_progression ISO mRNA:decreased expression:multiple (mouse) RGD PMID:19075243 RGD:40902812 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G RNASEL ribonuclease L severity ISO RGD PMID:19075243 RGD:40902812 NCBI chr 1:182,573,634...182,589,256
Ensembl chr 1:182,573,634...182,589,256
JBrowse link
G TNF tumor necrosis factor disease_progression ISO protein:decreased expression:multiple (mouse) RGD PMID:19075243 RGD:40902812 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
aspiration pneumonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme IMP associated with Cerebrovascular Accident RGD PMID:14990394 RGD:4140926 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G CXCL1 C-X-C motif chemokine ligand 1 ISO RGD PMID:19515386 RGD:4891456 NCBI chr 4:73,869,393...73,871,308
Ensembl chr 4:73,869,393...73,871,308
JBrowse link
G CXCL2 C-X-C motif chemokine ligand 2 ISO RGD PMID:19515386 RGD:4891456 NCBI chr 4:74,097,040...74,099,195
Ensembl chr 4:74,097,040...74,099,196
JBrowse link
G EDN1 endothelin 1 ISO protein:increased secretion:plasma (rat) RGD PMID:19262391 RGD:4145069 NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194
JBrowse link
G IL1A interleukin 1 alpha ISO protein:increased expression:Bronchoalveolar Lavage Fluid RGD PMID:18042282 RGD:4142854 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
JBrowse link
G NOS2 nitric oxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15607125 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:Bronchoalveolar Lavage Fluid RGD PMID:18042282 RGD:4142854 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
babesiosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PECAM1 platelet and endothelial cell adhesion molecule 1 IEP protein:decreased expression:serum (human) RGD PMID:25539588 RGD:11541121 NCBI chr17:64,319,415...64,390,860
Ensembl chr17:64,319,415...64,413,776
JBrowse link
Bacteremia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL2 C-C motif chemokine ligand 2 IEP associated with Febrile Neutropenia;protein:increased expression:serum (human) RGD PMID:22584776 RGD:11528568 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
JBrowse link
G CEBPB CCAAT enhancer binding protein beta ISO associated with alcohol use disorder;mRNA:increased expression:bone marrow (mouse) RGD PMID:28784931 RGD:40903040 NCBI chr20:50,190,583...50,192,690
Ensembl chr20:50,190,830...50,192,668
JBrowse link
G CFH complement factor H IDA associated with Meningococcal Infections; RGD PMID:22104107 RGD:7364945 NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476
JBrowse link
G CISH cytokine inducible SH2 containing protein susceptibility IAGP
EXP
ClinVar Annotator: match by term: Bacteremia, susceptibility to, 2
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:20484391 NCBI chr 3:50,606,489...50,611,774
Ensembl chr 3:50,606,489...50,611,774
JBrowse link
G CPB2 carboxypeptidase B2 ISO protein:decreased activity:plasma RGD PMID:17911187 RGD:2313646 NCBI chr13:46,053,186...46,105,033
Ensembl chr13:46,053,186...46,105,033
JBrowse link
G CRP C-reactive protein IEP protein:increased expression:serum: RGD PMID:18443549 RGD:9491402 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G CSF2 colony stimulating factor 2 treatment ISO RGD PMID:2192004 RGD:10449532 NCBI chr 5:132,073,789...132,076,170
Ensembl chr 5:132,073,789...132,076,170
JBrowse link
G FCGR2A Fc gamma receptor IIa IAGP associated with Pneumonia;DNA:SNP: :p.H131R (rs1801274) (human) RGD PMID:21317643 RGD:5147986 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase severity IMP RGD PMID:11565076 RGD:5508478 NCBI chr 5:75,336,529...75,362,116
Ensembl chr 5:75,336,329...75,364,001
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO mRNA:increased expression:lung,thymus,spleen: RGD PMID:24891762 RGD:11354979 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
JBrowse link
G IL17A interleukin 17A IEP associated with Respiratory Distress Syndrome, Adult; protein:increased expression:serum RGD PMID:21062445 RGD:5128683 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
JBrowse link
G IL27 interleukin 27 HEP protein:increased expression:blood serum (human) RGD PMID:26514771 RGD:126790515 NCBI chr16:28,499,362...28,506,834
Ensembl chr16:28,499,362...28,512,051
JBrowse link
G ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 ISO protein:increased expression:liver, serum RGD PMID:33348064 RGD:40907057 NCBI chr 3:52,812,962...52,830,672
Ensembl chr 3:52,812,962...52,830,688
JBrowse link
G LOC129936806 ATAC-STARR-seq lymphoblastoid silent region 14400 IAGP ClinVar Annotator: match by term: Bacteremia, susceptibility to, 2 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: Bacteremia, susceptibility to, 2 ClinVar PMID:20484391 NCBI chr 3:50,611,520...50,649,291
Ensembl chr 3:50,611,520...50,649,291
JBrowse link
G MBL2 mannose binding lectin 2 treatment IAGP associated with Multiple Myeloma:DNA:polymorphism:exon: RGD PMID:16953214 RGD:11530047 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 severity IAGP associated with Staphylococcal Infections; RGD PMID:24086711 RGD:13204726 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
JBrowse link
G PLAT plasminogen activator, tissue type EXP CTD Direct Evidence: therapeutic CTD PMID:1430592 NCBI chr 8:42,174,718...42,207,565
Ensembl chr 8:42,174,718...42,207,709
JBrowse link
G PLAUR plasminogen activator, urokinase receptor severity IEP RGD PMID:21332843 RGD:6483799 NCBI chr19:43,646,095...43,670,169
Ensembl chr19:43,646,095...43,670,547
JBrowse link
G SERPINC1 serpin family C member 1 treatment IDA RGD PMID:2679067 RGD:11035251 NCBI chr 1:173,903,800...173,917,327
Ensembl chr 1:173,903,800...173,917,327
JBrowse link
G SOD2 superoxide dismutase 2 ISO mRNA:increased expression:liver: RGD PMID:24253037 RGD:26923958 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G TIRAP TIR domain containing adaptor protein IAGP
EXP
ClinVar Annotator: match by term: Bacteremia, susceptibility to, 1
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
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 TLR4 toll like receptor 4 susceptibility IAGP DNA:polymorphisms:cds:p.D299G, T399I (human) RGD PMID:18180796 RGD:4144194 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
bacterial conjunctivitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MUC1 mucin 1, cell surface associated ISO RGD PMID:10359313 RGD:7349379 NCBI chr 1:155,185,824...155,192,915
Ensembl chr 1:155,185,824...155,192,916
JBrowse link
Bacterial Eye Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXCL8 C-X-C motif chemokine ligand 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23661603 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
JBrowse link
G TLR2 toll like receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23661603 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
JBrowse link
bacterial gastritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXCL8 C-X-C motif chemokine ligand 8 susceptibility IAGP associated with Helicobacter Infections;DNA:SNP:promoter: -251T>A (rs4073) (human) RGD PMID:31522447 RGD:40925938 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
JBrowse link
G IL32 interleukin 32 exacerbates IEP associated with Helicobacter Infections;mRNA, protein:increased expression:stomach (human) RGD PMID:24633341 RGD:150340727 NCBI chr16:3,065,403...3,069,530
Ensembl chr16:3,065,297...3,082,192
JBrowse link
G JAK2 Janus kinase 2 IEP protein:increased expression:stomach (human) RGD PMID:24718681 RGD:126928128 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
JBrowse link
G MIR146A microRNA 146a IEP associated with Helicobacter Infections;miRNA:increased expression:mucosa of stomach (human) RGD PMID:30535468 RGD:126925144 NCBI chr 5:160,485,352...160,485,450
Ensembl chr 5:160,485,352...160,485,450
JBrowse link
G MIR375 microRNA 375 IEP protein:decreased expression:stomach (human) RGD PMID:24718681 RGD:126928128 NCBI chr 2:219,001,645...219,001,708
Ensembl chr 2:219,001,645...219,001,708
JBrowse link
G TREM1 triggering receptor expressed on myeloid cells 1 IEP mRNA,protein:increased expression:gastric epithelium RGD PMID:18321350 RGD:126928123 NCBI chr 6:41,267,385...41,286,682
Ensembl chr 6:41,267,926...41,286,682
JBrowse link
Bacterial Keratitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1R1 interleukin 1 receptor type 1 ISO associated with Serratia Infections; RGD PMID:23033384 RGD:8662876 NCBI chr 2:102,070,390...102,179,874
Ensembl chr 2:102,064,544...102,179,874
JBrowse link
G LY96 lymphocyte antigen 96 ISO associated with Serratia Infections; RGD PMID:23033384 RGD:8662876 NCBI chr 8:73,991,392...74,099,857
Ensembl chr 8:73,991,392...74,029,079
JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor ISO associated with Staphylococcal Infections;
associated with Serratia Infections;
RGD PMID:16926427 PMID:23033384 RGD:8552819, RGD:8662876 NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,552...38,143,024
JBrowse link
G TLR2 toll like receptor 2 ISO associated with Staphylococcal Infections;
associated with Pneumococcal Infections;
RGD PMID:16926427 PMID:23841825 RGD:8552819, RGD:8552886 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 associated with Pneumococcal Infections;
associated with Serratia Infections;
RGD PMID:23841825 PMID:23033384 RGD:8552886, RGD:8662876 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
G TLR5 toll like receptor 5 ISO associated with Serratia Infections; RGD PMID:23033384 RGD:8662876 NCBI chr 1:223,109,404...223,143,248
Ensembl chr 1:223,109,404...223,143,292
JBrowse link
Bacterial Lung Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXCL8 C-X-C motif chemokine ligand 8 severity IEP protein:increased expression:nasal mucus (human) RGD PMID:24211414 RGD:40925940 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
JBrowse link
G MARCO macrophage receptor with collagenous structure disease_progression ISO association with Cryptococcal neoformans infection. RGD PMID:28298522 RGD:41412191 NCBI chr 2:118,942,194...118,994,660
Ensembl chr 2:118,942,194...118,994,660
JBrowse link
bacterial meningitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACHE acetylcholinesterase (Yt blood group) IEP RGD PMID:21303225 RGD:5688130 NCBI chr 7:100,889,994...100,896,994
Ensembl chr 7:100,889,994...100,896,974
JBrowse link
G BCHE butyrylcholinesterase IEP protein:increased expression:blood RGD PMID:21303225 RGD:5688130 NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462
JBrowse link
G BDNF brain derived neurotrophic factor ISO mRNA, protein:increased expression:hippocampus
mRNA:decreased expression:hippocampus,cerebral cortex:
RGD PMID:16141791 PMID:22683802 RGD:5684920, RGD:8655554 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
JBrowse link
G CD46 CD46 molecule IEP RGD PMID:16948860 RGD:6483465 NCBI chr 1:207,752,038...207,795,516
Ensembl chr 1:207,752,037...207,795,513
JBrowse link
G CHI3L1 chitinase 3 like 1 severity IEP protein:increased secretion:cerebrospinal fluid (human) RGD PMID:11986266 RGD:4892662 NCBI chr 1:203,178,931...203,186,704
Ensembl chr 1:203,178,931...203,186,704
JBrowse link
G CRP C-reactive protein IEP protein:increased expression:serum: RGD PMID:6122844 RGD:9491388 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G MMP9 matrix metallopeptidase 9 IDA RGD PMID:10430840 RGD:8547971 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G NGF nerve growth factor ISO mRNA:decreased expression:hippocampus: RGD PMID:22683802 RGD:8655554 NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770
JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 ISO mRNA, protein:increased expression:hippocampus RGD PMID:16141791 RGD:5684920 NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 susceptibility IAGP DNA:snp:cds:p.V762A rs1136410 (human) RGD PMID:21651918 RGD:5683901 NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,210...226,408,154
JBrowse link
G S100B S100 calcium binding protein B IEP protein:increased expression:cerebrospinal fluid RGD PMID:15105355 RGD:5508818 NCBI chr21:46,598,604...46,605,082
Ensembl chr21:46,598,604...46,605,208
JBrowse link
G TREM1 triggering receptor expressed on myeloid cells 1 disease_progression IEP RGD PMID:16786330 RGD:126928126 NCBI chr 6:41,267,385...41,286,682
Ensembl chr 6:41,267,926...41,286,682
JBrowse link
bacterial pneumonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) ISO RGD PMID:11238654 RGD:5128828 NCBI chr16:15,949,143...16,143,053
Ensembl chr16:15,949,138...16,143,257
JBrowse link
G ACE2 angiotensin converting enzyme 2 ISO associated with Pseudomonas Infections;mRNA, protein:altered expression, altered activity:lung (mouse) RGD PMID:31645418 RGD:40818279 NCBI chr  X:15,518,197...15,607,211
Ensembl chr  X:15,494,566...15,607,236
JBrowse link
G AGER advanced glycosylation end-product specific receptor severity ISO RGD PMID:21629785 RGD:6767559 NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322
JBrowse link
G C3 complement C3 ISO RGD PMID:16014897 RGD:5129508 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
JBrowse link
G C3AR1 complement C3a receptor 1 ISO RGD PMID:16461429 RGD:5129690 NCBI chr12:8,056,844...8,066,359
Ensembl chr12:8,056,844...8,066,359
JBrowse link
G C5 complement C5 ISO RGD PMID:17975174 RGD:5129707 NCBI chr 9:120,952,335...121,074,865
Ensembl chr 9:120,932,987...121,075,195
JBrowse link
G CAT catalase ISO RGD PMID:19842849 RGD:5130748 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
JBrowse link
G CCL19 C-C motif chemokine ligand 19 ISO mRNA, protein:increased expression:lung RGD PMID:20176793 RGD:5130918 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 ISO RGD PMID:20042590 RGD:4891443 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 ISO RGD PMID:20483921 RGD:5130905 NCBI chr17:36,103,827...36,105,614
Ensembl chr17:36,103,827...36,105,621
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO RGD PMID:20042590 RGD:4891443 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940
JBrowse link
G CCR7 C-C motif chemokine receptor 7 ISO RGD PMID:20176793 RGD:5130918 NCBI chr17:40,553,769...40,565,472
Ensembl chr17:40,553,769...40,565,472
JBrowse link
G CD14 CD14 molecule ISO RGD PMID:16210672 RGD:4144197 NCBI chr 5:140,631,732...140,633,701
Ensembl chr 5:140,631,728...140,633,700
JBrowse link
G CD40 CD40 molecule ISO RGD PMID:20102413 RGD:5132268 NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
JBrowse link
G CD80 CD80 molecule ISO RGD PMID:20949109 RGD:4892562 NCBI chr 3:119,524,293...119,559,614
Ensembl chr 3:119,524,293...119,559,614
JBrowse link
G CHUK component of inhibitor of nuclear factor kappa B kinase complex ISO RGD PMID:18643924 RGD:5133701 NCBI chr10:100,186,319...100,229,596
Ensembl chr10:100,188,300...100,229,596
JBrowse link
G CSF3 colony stimulating factor 3 disease_progression
treatment
IEP
IDA
associated with Peritonitis; RGD PMID:21373266 PMID:12352049 RGD:5133733, RGD:11039437 NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
JBrowse link
G CSF3R colony stimulating factor 3 receptor disease_progression ISO RGD PMID:17185469 RGD:5133739 NCBI chr 1:36,466,043...36,483,314
Ensembl chr 1:36,466,043...36,483,278
JBrowse link
G CXCL1 C-X-C motif chemokine ligand 1 ISO RGD PMID:21723409 PMID:11052817 RGD:5135062, RGD:5135234 NCBI chr 4:73,869,393...73,871,308
Ensembl chr 4:73,869,393...73,871,308
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 severity ISO RGD PMID:16299319 PMID:15618188 RGD:5135458, RGD:5135459 NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497
JBrowse link
G CXCL11 C-X-C motif chemokine ligand 11 ISO RGD PMID:15618188 RGD:5135459 NCBI chr 4:76,033,682...76,036,070
Ensembl chr 4:76,033,682...76,041,415
JBrowse link
G CXCL2 C-X-C motif chemokine ligand 2 severity ISO RGD PMID:19239431 PMID:11052817 PMID:21723409 RGD:5135065, RGD:5135234, RGD:5135062 NCBI chr 4:74,097,040...74,099,195
Ensembl chr 4:74,097,040...74,099,196
JBrowse link
G CXCL3 C-X-C motif chemokine ligand 3 ISO RGD PMID:11052817 RGD:5135234 NCBI chr 4:74,036,589...74,038,689
Ensembl chr 4:74,036,589...74,038,807
JBrowse link
G CXCL5 C-X-C motif chemokine ligand 5 ISO RGD PMID:19846873 RGD:4145490 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 ISO RGD PMID:19846873 RGD:4145490 NCBI chr 4:73,836,678...73,838,760
Ensembl chr 4:73,836,640...73,849,064
JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 ISO RGD PMID:15618188 RGD:5135459 NCBI chr 4:76,001,275...76,007,509
Ensembl chr 4:76,001,275...76,007,509
JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO RGD PMID:15618188 RGD:5135459 NCBI chr  X:71,615,919...71,618,511
Ensembl chr  X:71,615,916...71,618,511
JBrowse link
G CYP2J2 cytochrome P450 family 2 subfamily J member 2 ISO protein:decreased expression:lung RGD PMID:14766666 RGD:1625385 NCBI chr 1:59,893,308...59,969,212
Ensembl chr 1:59,893,308...59,926,773
JBrowse link
G DEFB4A defensin beta 4A IEP protein:increased expression:plasma RGD PMID:10213993 RGD:4892266 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 F2 coagulation factor II, thrombin ISO RGD PMID:21897338 RGD:6893486 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
JBrowse link
G FCGR2A Fc gamma receptor IIa ISO RGD PMID:17975174 RGD:5129707 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013
JBrowse link
G FOXP3 forkhead box P3 severity ISO RGD PMID:25398094 RGD:38501102 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800
JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha exacerbates ISO associated with Escherichia Coli Infections RGD PMID:27845343 RGD:42722624 NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023
JBrowse link
G GRK2 G protein-coupled receptor kinase 2 IEP mRNA:decreased expression:polymorphonuclear leukocyte RGD PMID:24465168 RGD:126848796 NCBI chr11:67,266,473...67,286,556
Ensembl chr11:67,266,473...67,286,556
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased expression:lung (mouse) RGD PMID:19846873 RGD:4145490 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
JBrowse link
G IFNAR1 interferon alpha and beta receptor subunit 1 severity ISO RGD PMID:19487810 PMID:19487810 RGD:5490274, RGD:5490274 NCBI chr21:33,324,395...33,359,864
Ensembl chr21:33,324,387...33,359,864
JBrowse link
G IFNG interferon gamma severity ISO RGD PMID:25398094 RGD:38501102 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IL10 interleukin 10 severity ISO RGD PMID:25398094 RGD:38501102 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL15 interleukin 15 ISO RGD PMID:17911627 RGD:5000754 NCBI chr 4:141,636,583...141,733,987
Ensembl chr 4:141,636,583...141,733,987
JBrowse link
G IL17A interleukin 17A severity ISO RGD PMID:18802100 PMID:25398094 RGD:4889153, RGD:38501102 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
JBrowse link
G IL18 interleukin 18 ISO RGD PMID:17664259 RGD:4889913 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
JBrowse link
G IL1B interleukin 1 beta severity
treatment
ISO
IDA
associated with Agranulocytosis RGD PMID:18596024 PMID:25398094 PMID:7546648 RGD:4143205, RGD:38501102, RGD:10755357 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 treatment ISO associated with Sepsis
associated with Acinetobacter infectious disease
RGD PMID:20959556 PMID:29508184 RGD:5144223, RGD:40818077 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 ISO RGD PMID:18322242 PMID:18596024 RGD:4143206, RGD:4143205 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
JBrowse link
G IL22 interleukin 22 ISO RGD PMID:21178015 RGD:5147404 NCBI chr12:68,248,242...68,253,604
Ensembl chr12:68,248,242...68,253,604
JBrowse link
G IL6 interleukin 6 severity ISO RGD PMID:25398094 RGD:38501102 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G IRAK3 interleukin 1 receptor associated kinase 3 ISO RGD PMID:28120642 PMID:20439918 RGD:34888234, RGD:36049799 NCBI chr12:66,189,214...66,254,622
Ensembl chr12:66,189,195...66,254,622
JBrowse link
G IRF1 interferon regulatory factor 1 ISO RGD PMID:11854220 RGD:5128725 NCBI chr 5:132,481,609...132,490,773
Ensembl chr 5:132,440,440...132,508,719
JBrowse link
G IRF3 interferon regulatory factor 3 ISO RGD PMID:20720199 RGD:4891951 NCBI chr19:49,659,572...49,665,857
Ensembl chr19:49,659,569...49,665,875
JBrowse link
G ITGB3 integrin subunit beta 3 ISO protein:increased expression:lung, neutrophil RGD PMID:15114484 RGD:4993468 NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743
JBrowse link
G LEP leptin ISO RGD PMID:11937559 RGD:5128871 NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
JBrowse link
G MAPK8 mitogen-activated protein kinase 8 severity ISO associated with Escherichia Coli Infections RGD PMID:22514650 RGD:150340681 NCBI chr10:48,306,677...48,439,360
Ensembl chr10:48,306,639...48,439,360
JBrowse link
G MBL2 mannose binding lectin 2 IAGP Legionella Pneumonia; DNA:mutations:5' utr, exon:multiple (human) RGD PMID:18641104 RGD:4889477 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
JBrowse link
G MC1R melanocortin 1 receptor ISO RGD PMID:18304533 RGD:5687324 NCBI chr16:89,918,862...89,920,972
Ensembl chr16:89,912,119...89,920,973
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO
IEP
protein:increased expression:bronchoalveolar lavage fluid RGD PMID:17202364 PMID:19535150 RGD:5130727, RGD:5129533 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G MPO myeloperoxidase IEP protein:increased activity:bronchoalveolar lavage Fluid: RGD PMID:11269653 RGD:5130992 NCBI chr17:58,269,855...58,280,935
Ensembl chr17:58,269,855...58,280,935
JBrowse link
G NOD1 nucleotide binding oligomerization domain containing 1 ISO RGD PMID:19360122 RGD:5131449 NCBI chr 7:30,424,527...30,478,784
Ensembl chr 7:30,424,527...30,478,784
JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 ISO RGD PMID:19360122 RGD:5131449 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
JBrowse link
G PDPN podoplanin ISO protein:increased expression:lung RGD PMID:7864138 RGD:2292375 NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957
JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 ISO protein:decreased expression:lung RGD PMID:12524254 RGD:724645 NCBI chr17:64,319,415...64,390,860
Ensembl chr17:64,319,415...64,413,776
JBrowse link
G PGF placental growth factor ISO protein:increased expression:plasma RGD PMID:16702604 RGD:6483601 NCBI chr14:74,941,830...74,955,764
Ensembl chr14:74,941,834...74,955,626
JBrowse link
G PTEN phosphatase and tensin homolog ameliorates ISO myeloid knockout RGD PMID:21527775 RGD:127285594 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 ameliorates ISO RGD PMID:28387756 RGD:127229944 NCBI chr14:24,336,025...24,339,991
Ensembl chr14:24,336,025...24,340,022
JBrowse link
G RORC RAR related orphan receptor C severity ISO RGD PMID:25398094 RGD:38501102 NCBI chr 1:151,806,071...151,831,802
Ensembl chr 1:151,806,071...151,831,845
JBrowse link
G SERPINE1 serpin family E member 1 severity ISO RGD PMID:17032919 RGD:4144840 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
G SFTPA1 surfactant protein A1 ISO protein:increased expression:lung RGD PMID:12169586 RGD:4143464 NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
JBrowse link
G SFTPB surfactant protein B IEP
ISO
associated with Cystic Fibrosis;protein:increased expression:lung RGD PMID:15271694 PMID:12169586 RGD:4143403, RGD:4143464 NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741
JBrowse link
G SFTPC surfactant protein C ISO RGD PMID:18566429 PMID:12169586 RGD:4144114, RGD:4143464 NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
JBrowse link
G SFTPD surfactant protein D ISO
IEP
protein:increased expression:lung
associated with Cystic Fibrosis;protein:decreased expression:lung
RGD PMID:12169586 PMID:15271694 RGD:4143464, RGD:4143403 NCBI chr10:79,937,740...79,982,383
Ensembl chr10:79,937,467...79,982,614
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO RGD PMID:18192501 RGD:6892945 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
JBrowse link
G TGFB1 transforming growth factor beta 1 severity ISO RGD PMID:25398094 RGD:38501102 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TLR2 toll like receptor 2 ISO RGD PMID:18768871 PMID:19844782 RGD:4145337, RGD:4889533 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:20650991 PMID:16210672 RGD:4144172, RGD:4144197 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
G TLR5 toll like receptor 5 ISO RGD PMID:19801452 RGD:5129503 NCBI chr 1:223,109,404...223,143,248
Ensembl chr 1:223,109,404...223,143,292
JBrowse link
G TLR6 toll like receptor 6 ISO RGD PMID:19844782 RGD:4889533 NCBI chr 4:38,822,897...38,868,390
Ensembl chr 4:38,822,897...38,856,817
JBrowse link
G TLR9 toll like receptor 9 ISO RGD PMID:20360853 RGD:5130719 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
treatment
severity
IEP
IDA
ISO
associated with Agranulocytosis RGD PMID:10650487 PMID:7546648 PMID:9310939 PMID:12958055 RGD:4143476, RGD:10755357, RGD:10450564, RGD:10449451 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO protein:increased expression:serum (mouse) RGD PMID:19842848 RGD:5131429 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO protein:increased expression:serum (mouse) RGD PMID:19842848 RGD:5131429 NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
JBrowse link
G TREM1 triggering receptor expressed on myeloid cells 1 severity
ameliorates
IEP
ISO
RGD PMID:24465168 PMID:16960786 PMID:22996209 RGD:126848796, RGD:127229902, RGD:126925987 NCBI chr 6:41,267,385...41,286,682
Ensembl chr 6:41,267,926...41,286,682
JBrowse link
G ZC3H12A zinc finger CCCH-type containing 12A ISO associated with Pseudomonas Infections RGD PMID:29695841 RGD:39938967 NCBI chr 1:37,474,580...37,484,377
Ensembl chr 1:37,474,580...37,484,377
JBrowse link
bacterial sepsis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TREM1 triggering receptor expressed on myeloid cells 1 treatment
ameliorates
exacerbates
IDA
ISO
associated with bacterial pneumonia RGD PMID:21507332 PMID:16960786 PMID:17230441 RGD:126925982, RGD:127229902, RGD:126928125 NCBI chr 6:41,267,385...41,286,682
Ensembl chr 6:41,267,926...41,286,682
JBrowse link
bacterial vaginosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MBL2 mannose binding lectin 2 IAGP DNA:SNP:cds: RGD PMID:17470593 RGD:8693700 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
JBrowse link
bacteriuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLEC4M C-type lectin domain family 4 member M ISO associated with Escherichia Coli Infections RGD PMID:31998663 RGD:41410804 NCBI chr19:7,763,243...7,769,605
Ensembl chr19:7,763,210...7,769,605
JBrowse link
Bordetella Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXCL2 C-X-C motif chemokine ligand 2 ISO associated with Influenza RGD PMID:20065113 RGD:5134984 NCBI chr 4:74,097,040...74,099,195
Ensembl chr 4:74,097,040...74,099,196
JBrowse link
boutonneuse fever term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 IEP protein:increased expression:serum RGD PMID:3361150 RGD:11041575 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
JBrowse link
G CFB complement factor B IEP protein:increased expression:serum RGD PMID:3361150 RGD:11041575 NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO RGD PMID:14507644 RGD:5135450 NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497
JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 ISO RGD PMID:14507644 RGD:5135450 NCBI chr 4:76,001,275...76,007,509
Ensembl chr 4:76,001,275...76,007,509
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
bowenoid papulosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BIRC2 baculoviral IAP repeat containing 2 IEP mRNA:increased expression:perianal skin (human) RGD PMID:20346172 RGD:152998971 NCBI chr11:102,347,214...102,378,670
Ensembl chr11:102,347,211...102,378,670
JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 IEP mRNA:increased expression:perianal skin (human) RGD PMID:20346172 RGD:152998971 NCBI chr11:102,317,484...102,339,403
Ensembl chr11:102,317,484...102,339,403
JBrowse link
brucellosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD163 CD163 molecule treatment IEP RGD PMID:32069255 RGD:149735531 NCBI chr12:7,470,811...7,503,777
Ensembl chr12:7,470,811...7,503,893
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 susceptibility IAGP DNA:SNP:promoter:g.-251A>T (human) RGD PMID:24076593 RGD:150523788 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
JBrowse link
G IFNG interferon gamma treatment IEP RGD PMID:27916101 RGD:14974260 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12183525 NCBI chr18:23,506,184...23,586,506
Ensembl chr18:23,506,184...23,586,506
JBrowse link
G PDE4A phosphodiesterase 4A ISO mRNA:decreased expression:spleen RGD PMID:17397885 RGD:2302429 NCBI chr19:10,416,773...10,469,631
Ensembl chr19:10,416,773...10,469,630
JBrowse link
G PRDX5 peroxiredoxin 5 ISO mRNA:increased expression:spleen (mouse) RGD PMID:31196623 RGD:41404681 NCBI chr11:64,318,121...64,321,811
Ensembl chr11:64,318,121...64,321,811
JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 ISO RGD PMID:29203515 PMID:30894428 RGD:39128199, RGD:39128234 NCBI chr 5:139,475,533...139,482,758
Ensembl chr 5:139,475,533...139,482,935
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
campylobacteriosis 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:27322540 PMID:27385977 RGD:39457954, RGD:39458040 NCBI chr12:56,338,884...56,340,410
Ensembl chr12:56,334,174...56,340,410
JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma treatment ISO RGD PMID:23180818 RGD:38599193 NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980
JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO RGD PMID:18656410 RGD:5684976 NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894
JBrowse link
chlamydia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCR5 C-C motif chemokine receptor 5 ISO RGD PMID:16118671 RGD:8549760 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
JBrowse link
G CD40 CD40 molecule ISO RGD PMID:20102413 RGD:5132268 NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
JBrowse link
G FOXP3 forkhead box P3 treatment IEP RGD PMID:30832593 RGD:38455984 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO mRNA:increased expression:lung (mouse) RGD PMID:19728926 RGD:4145507 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
JBrowse link
G IDO1 indoleamine 2,3-dioxygenase 1 treatment IEP
ISO
mRNA:increased expression:lung (mouse) RGD PMID:30832593 PMID:31249813 RGD:38455984, RGD:39938856 NCBI chr 8:39,913,891...39,928,790
Ensembl chr 8:39,902,275...39,928,790
JBrowse link
G IFNG interferon gamma EXP CTD Direct Evidence: marker/mechanism CTD PMID:19203382 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IL13 interleukin 13 ISO RGD PMID:21573182 RGD:5684365 NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
JBrowse link
G IL17A interleukin 17A ISO associated with Bronchial Hyprractivity; mRNA:increased expression:lung RGD PMID:20228193 PMID:19812198 RGD:4888528, RGD:4889101 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
JBrowse link
G MIR21 microRNA 21 ISO associated with asthma;RNA:increased expression:lung RGD PMID:27448447 RGD:41404696 NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
JBrowse link
G TGFB1 transforming growth factor beta 1 treatment IEP RGD PMID:30832593 RGD:38455984 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:19203382 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
Chlamydia pneumonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD274 CD274 molecule ISO mRNA:increased expression:lung RGD PMID:26378990 RGD:41412180 NCBI chr 9:5,450,542...5,470,554
Ensembl chr 9:5,450,503...5,470,566
JBrowse link
G PDCD1 programmed cell death 1 ISO mRNA:increased expression:lung RGD PMID:26378990 RGD:41412180 NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894
JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta severity ISO RGD PMID:29893841 RGD:40890270 NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114
JBrowse link
Chlamydiaceae Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD1D CD1d molecule ISO RGD PMID:23999314 RGD:127345116 NCBI chr 1:158,178,030...158,186,427
Ensembl chr 1:158,178,030...158,186,427
JBrowse link
G PLAC8 placenta associated 8 severity
exacerbates
ISO RGD PMID:22238459 PMID:22238459 RGD:40925930, RGD:40925930 NCBI chr 4:83,090,048...83,114,729
Ensembl chr 4:83,090,048...83,137,075
JBrowse link
G PTEN phosphatase and tensin homolog ISO associated with Experimental Allergic Asthma;mRNA:decreased expression:lung (mouse) RGD PMID:27448447 RGD:41404696 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 HDA associated with lung cancer;DNA:hypomethylation:promoter (human) RGD PMID:31388311 RGD:127229924 NCBI chr14:24,336,025...24,339,991
Ensembl chr14:24,336,025...24,340,022
JBrowse link
Chlamydophila Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HDC histidine decarboxylase ISO RGD PMID:14556983 RGD:5143922 NCBI chr15:50,241,947...50,265,726
Ensembl chr15:50,241,947...50,265,965
JBrowse link
G LCN2 lipocalin 2 exacerbates ISO RGD PMID:23317919 RGD:126781720 NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453
JBrowse link
G MMP14 matrix metallopeptidase 14 IEP RGD PMID:12526080 RGD:1582580 NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,041
JBrowse link
G MMP2 matrix metallopeptidase 2 IDA RGD PMID:12526080 RGD:1582580 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
cholera term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DUOX2 dual oxidase 2 treatment IEP RGD PMID:29133347 RGD:40925924 NCBI chr15:45,092,650...45,114,172
Ensembl chr15:45,092,650...45,114,172
JBrowse link
G MIR155 microRNA 155 IEP miRNA:increased expression:duodenum RGD PMID:28319200 RGD:25314323 NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
JBrowse link
chronic recurrent multifocal osteomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACYP2 acylphosphatase 2 IAGP ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chr 2:53,971,113...54,305,300
Ensembl chr 2:53,970,838...54,305,300
JBrowse link
G IL1R1 interleukin 1 receptor type 1 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chronic multifocal osteomyelitis
CTD
ClinVar
NCBI chr 2:102,070,390...102,179,874
Ensembl chr 2:102,064,544...102,179,874
JBrowse link
G LOC110806263 TERT 5' regulatory region IAGP ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar PMID:16890917 NCBI chr 5:1,294,628...1,298,988 JBrowse link
G MLKL mixed lineage kinase domain like pseudokinase IAGP ClinVar Annotator: match by term: Chronic multifocal osteomyelitis ClinVar NCBI chr16:74,671,855...74,700,862
Ensembl chr16:74,671,855...74,700,960
JBrowse link
G MYNN myoneurin IAGP ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chr 3:169,773,396...169,789,716
Ensembl chr 3:169,773,396...169,789,716
JBrowse link
G PSTPIP2 proline-serine-threonine phosphatase interacting protein 2 ISS OMIM:259680 MouseDO NCBI chr18:45,983,536...46,072,260
Ensembl chr18:45,983,536...46,072,272
JBrowse link
G TERT telomerase reverse transcriptase IAGP ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar PMID:16890917 PMID:28492532 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G ZBTB46 zinc finger and BTB domain containing 46 IAGP ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chr20:63,743,670...63,833,895
Ensembl chr20:63,743,668...63,832,038
JBrowse link
Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1F10 interleukin 1 family member 10 IAGP ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis ClinVar PMID:19494218 PMID:21792839 PMID:22940634 PMID:23698098 PMID:26100510 More... NCBI chr 2:113,067,970...113,075,843
Ensembl chr 2:113,067,970...113,075,843
JBrowse link
G IL1RN interleukin 1 receptor antagonist IAGP
EXP
ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9536098 PMID:12837270 PMID:16199547 PMID:16519819 PMID:17576681 More... NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
JBrowse link
G IL36RN interleukin 36 receptor antagonist IAGP ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis ClinVar PMID:19494218 PMID:21792839 PMID:22940634 PMID:23698098 PMID:26100510 More... NCBI chr 2:113,058,638...113,064,744
Ensembl chr 2:113,058,638...113,065,382
JBrowse link
G NFKBIA NFKB inhibitor alpha IAGP ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis ClinVar NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749
JBrowse link
Chronic recurrent multifocal osteomyelitis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1R1 interleukin 1 receptor type 1 IAGP OMIM NCBI chr 2:102,070,390...102,179,874
Ensembl chr 2:102,064,544...102,179,874
JBrowse link
Clostridium difficile colitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL23A interleukin 23 subunit alpha severity ISO RGD PMID:26455347 RGD:11097134 NCBI chr12:56,338,884...56,340,410
Ensembl chr12:56,334,174...56,340,410
JBrowse link
G IL33 interleukin 33 treatment
severity
ISO RGD PMID:32156806 PMID:32156806 RGD:40400894, RGD:40400894 NCBI chr 9:6,215,149...6,257,983
Ensembl chr 9:6,215,786...6,257,983
JBrowse link
Clostridium Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL27 interleukin 27 IEP associated with diarrhea;protein:increased expression:blood��serum, feces (human) RGD PMID:29140433 RGD:126790495 NCBI chr16:28,499,362...28,506,834
Ensembl chr16:28,499,362...28,512,051
JBrowse link
G MARCO macrophage receptor with collagenous structure exacerbates ISO RGD PMID:20810988 RGD:41412193 NCBI chr 2:118,942,194...118,994,660
Ensembl chr 2:118,942,194...118,994,660
JBrowse link
Coronary Artery Disease, Development of, in HIV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL2 C-C motif chemokine ligand 2 IAGP ClinVar Annotator: match by term: Coronary artery disease, development of, in HIV 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 LOC126862536 BRD4-independent group 4 enhancer GRCh37_chr17:32578883-32580082 IAGP ClinVar Annotator: match by term: Coronary artery disease, development of, in HIV ClinVar PMID:11500196 PMID:15466648 PMID:16352737 PMID:16596675 PMID:18940815 More... NCBI chr17:34,251,864...34,253,063 JBrowse link
Crimean-Congo hemorrhagic fever term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFNA1 interferon alpha 1 susceptibility IAGP DNA:SNP:promoter: -1823G>A (rs1332190)(human) RGD PMID:26694082 RGD:36174029 NCBI chr 9:21,440,439...21,441,316
Ensembl chr 9:21,440,439...21,441,316
JBrowse link
G IFNA17 interferon alpha 17 susceptibility IAGP DNA:SNP,haplotype:cds: rs9298814 (p.Ile184Arg)(human) RGD PMID:26694082 RGD:36174029 NCBI chr 9:21,227,243...21,228,222
Ensembl chr 9:21,227,243...21,228,222
JBrowse link
Diffuse Panbronchiolitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HLA-B major histocompatibility complex, class I, B susceptibility IAGP DNA:polymorphism:cds:HLA-B*5401 (human) RGD PMID:9731015 RGD:1331522 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
JBrowse link
G MBL2 mannose binding lectin 2 susceptibility IAGP DNA:SNP:exon:p.G54D(rs1800450)(human) RGD PMID:15249448 RGD:8693755 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
JBrowse link
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming IEP protein:decreased expression:bronchiole epithelium RGD PMID:15364771 RGD:7364741 NCBI chr11:1,157,953...1,201,138
Ensembl chr11:1,157,953...1,201,138
JBrowse link
G MUC5B mucin 5B, oligomeric mucus/gel-forming IAGP DNA:insertion/deletion RGD PMID:15709052 RGD:7349353 NCBI chr11:1,223,066...1,262,172
Ensembl chr11:1,223,066...1,262,172
JBrowse link
G MUCL3 mucin like 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22152429 NCBI chr 6:30,940,973...30,954,221
Ensembl chr 6:30,934,523...30,954,221
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility IAGP DNA:polymorphisms:exon: RGD PMID:10323341 RGD:5147847 NCBI chr 6:32,821,831...32,838,739
Ensembl chr 6:32,821,833...32,838,739
JBrowse link
endometritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASP3 caspase 3 treatment ISO RGD PMID:26920733 RGD:13782281 NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,650,062
JBrowse link
G CASP6 caspase 6 treatment ISO RGD PMID:26920733 RGD:13782281 NCBI chr 4:109,664,388...109,709,767
Ensembl chr 4:109,688,622...109,703,583
JBrowse link
G CASP7 caspase 7 treatment ISO RGD PMID:26920733 RGD:13782281 NCBI chr10:113,679,194...113,730,909
Ensembl chr10:113,679,162...113,730,907
JBrowse link
G CASP9 caspase 9 treatment ISO RGD PMID:26920733 RGD:13782281 NCBI chr 1:15,491,401...15,524,912
Ensembl chr 1:15,490,832...15,526,534
JBrowse link
G IL1A interleukin 1 alpha ISO protein:increased expression:endometrium RGD PMID:25330821 RGD:11059518 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
JBrowse link
G TREM1 triggering receptor expressed on myeloid cells 1 ameliorates ISO RGD PMID:31365951 RGD:126928127 NCBI chr 6:41,267,385...41,286,682
Ensembl chr 6:41,267,926...41,286,682
JBrowse link
Endotoxemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 ISO mRNA:decreased expression:liver (rat) RGD PMID:26977098 RGD:11041000 NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323
JBrowse link
G ABCB11 ATP binding cassette subfamily B member 11 ISO RGD PMID:9828229 RGD:1598596 NCBI chr 2:168,915,390...169,031,324
Ensembl chr 2:168,915,498...169,031,324
JBrowse link
G ABCC2 ATP binding cassette subfamily C member 2 ISO RGD PMID:16572733 RGD:1598611 NCBI chr10:99,782,640...99,852,594
Ensembl chr10:99,782,640...99,852,594
JBrowse link
G ABCC8 ATP binding cassette subfamily C member 8 ISO RGD PMID:17285300 RGD:2301914 NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894
JBrowse link
G ACE angiotensin I converting enzyme ISO associated with Hemorrhage;protein:decreased activity:plasma (rat) RGD PMID:3028670 RGD:8142370 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G ACHE acetylcholinesterase (Yt blood group) IDA RGD PMID:17657467 RGD:5688055 NCBI chr 7:100,889,994...100,896,994
Ensembl chr 7:100,889,994...100,896,974
JBrowse link
G ACTC1 actin alpha cardiac muscle 1 ISO RGD PMID:11680626 RGD:1598729 NCBI chr15:34,790,230...34,795,549
Ensembl chr15:34,790,107...34,795,589
JBrowse link
G ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 ISO protein:increased expression:plasma, spleen RGD PMID:23025351 RGD:9681752 NCBI chr21:26,835,755...26,845,409
Ensembl chr21:26,835,755...26,845,409
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO associated with Obesity RGD PMID:23838384 RGD:8695926 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
JBrowse link
G ADIPOR2 adiponectin receptor 2 severity ISO associated with obesity;mRNA:decreased expression:liver (rat) RGD PMID:23838384 RGD:8695926 NCBI chr12:1,691,070...1,788,674
Ensembl chr12:1,688,574...1,788,674
JBrowse link
G ADRA2A adrenoceptor alpha 2A onset ISO mRNA:increased expression:spleen RGD PMID:20302880 RGD:6480487 NCBI chr10:111,077,029...111,080,907
Ensembl chr10:111,077,029...111,080,907
JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO protein:increased expression:kidney RGD PMID:16725227 RGD:6903849 NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008
JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO protein:decreased expression:kidney RGD PMID:16725227 RGD:6903849 NCBI chr  X:116,170,744...116,174,974
Ensembl chr  X:116,170,744...116,174,974
JBrowse link
G AHR aryl hydrocarbon receptor severity ISO RGD PMID:24930766 RGD:39939032 NCBI chr 7:17,298,652...17,346,147
Ensembl chr 7:16,916,359...17,346,152
JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO RGD PMID:22824368 RGD:38676479 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
JBrowse link
G ALDOA aldolase, fructose-bisphosphate A ISO RGD PMID:16930621 RGD:1599054 NCBI chr16:30,053,151...30,070,414
Ensembl chr16:30,053,090...30,070,420
Ensembl chr16:30,053,090...30,070,420
Ensembl chr16:30,053,090...30,070,420
JBrowse link
G ALDOA aldolase, fructose-bisphosphate A ISO RGD PMID:16930621 RGD:1599054 NCBI chr16:30,064,279...30,070,420
Ensembl chr16:30,064,164...30,070,457
JBrowse link
G ALOX5 arachidonate 5-lipoxygenase EXP CTD Direct Evidence: marker/mechanism CTD PMID:15328337 NCBI chr10:45,374,216...45,446,117
Ensembl chr10:45,374,176...45,446,119
JBrowse link
G APOA1 apolipoprotein A1 treatment IDA
ISO
RGD PMID:18593575 PMID:23227448 RGD:7241573, RGD:7241868 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622
JBrowse link
G APOB apolipoprotein B ISO RGD PMID:16719989 RGD:1599165 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
JBrowse link
G APOE apolipoprotein E IDA rat model treated with human protein RGD PMID:9153287 RGD:6904216 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G ASL argininosuccinate lyase ISO RGD PMID:10652239 RGD:1599265 NCBI chr 7:66,075,819...66,093,576
Ensembl chr 7:66,075,800...66,094,697
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO RGD PMID:10652239 RGD:1599265 NCBI chr 9:130,444,707...130,501,274
Ensembl chr 9:130,444,961...130,501,274
JBrowse link
G ATF2 activating transcription factor 2 treatment ISO protein:increased expression, increased activity:small intestine mucosa RGD PMID:21641970 PMID:24312512 RGD:5135029, RGD:10047418 NCBI chr 2:175,072,259...175,168,203
Ensembl chr 2:175,072,250...175,168,382
JBrowse link
G ATP5F1A ATP synthase F1 subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:16741687 NCBI chr18:46,080,248...46,104,227
Ensembl chr18:46,080,248...46,104,334
JBrowse link
G BAX BCL2 associated X, apoptosis regulator ISO mRNA:increased expression:diaphragm RGD PMID:23940949 RGD:10054120 NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
JBrowse link
G BCHE butyrylcholinesterase IDA RGD PMID:17657467 RGD:5688055 NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462
JBrowse link
G BCL2 BCL2 apoptosis regulator ISO mRNA:decreased expression:diaphragm RGD PMID:23940949 RGD:10054120 NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
JBrowse link
G C5AR1 complement C5a receptor 1 ISO mRNA:increased expression:lung RGD PMID:9272704 RGD:70679 NCBI chr19:47,307,477...47,322,066
Ensembl chr19:47,290,023...47,322,066
JBrowse link
G CASP1 caspase 1 ISO RGD PMID:17384935 RGD:2315892 NCBI chr11:105,025,443...105,036,686
Ensembl chr11:105,025,397...105,035,250
JBrowse link
G CASP3 caspase 3 ISO mRNA:increased expression:diaphragm RGD PMID:23940949 RGD:10054120 NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,650,062
JBrowse link
G CASP7 caspase 7 ISO RGD PMID:19168786 RGD:5684539 NCBI chr10:113,679,194...113,730,909
Ensembl chr10:113,679,162...113,730,907
JBrowse link
G CASP9 caspase 9 treatment ISO RGD PMID:23214195 RGD:10400903 NCBI chr 1:15,491,401...15,524,912
Ensembl chr 1:15,490,832...15,526,534
JBrowse link
G CBS cystathionine beta-synthase severity ISO mRNA:increased expression:liver (rat)
Protein:increased expression:spleen, lung (mouse)
RGD PMID:27748832 PMID:16100527 PMID:24702258 PMID:27748832 RGD:40903019, RGD:40903049, RGD:40903035, RGD:40903019 NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO protein:increased expression:plasma RGD PMID:19060786 RGD:2307004 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 ISO protein:increased expression:plasma RGD PMID:16215387 RGD:2307171 NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
JBrowse link
G CCR1 C-C motif chemokine receptor 1 ISO RGD PMID:17016504 RGD:5688178 NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313
JBrowse link
G CD14 CD14 molecule ISO protein:increased expression:liver, endothelial cell of sinusoid RGD PMID:12046090 RGD:724637 NCBI chr 5:140,631,732...140,633,701
Ensembl chr 5:140,631,728...140,633,700
JBrowse link
G CD40 CD40 molecule ISO protein:decreased nitrosylation:macrophage RGD PMID:20473113 RGD:5490974 NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
JBrowse link
G CEBPB CCAAT enhancer binding protein beta treatment ISO RGD PMID:15192048 PMID:14659593 RGD:1625687, RGD:40903034 NCBI chr20:50,190,583...50,192,690
Ensembl chr20:50,190,830...50,192,668
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16741687 NCBI chr 2:210,477,685...210,679,107
Ensembl chr 2:210,477,682...210,679,107
JBrowse link
G CS citrate synthase ISO protein:increased expression:gastrocnemius RGD PMID:25674200 RGD:329337350 NCBI chr12:56,271,699...56,300,330
Ensembl chr12:56,271,699...56,300,391
JBrowse link
G CSF3 colony stimulating factor 3 treatment IDA RGD PMID:9514298 RGD:11039535 NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO protein:increased expression:atrium endocardium RGD PMID:19282612 RGD:4891965 NCBI chr16:57,372,490...57,385,044
Ensembl chr16:57,372,477...57,385,044
JBrowse link
G CXCL1 C-X-C motif chemokine ligand 1 ISO mRNA:increased expression:multiple organs RGD PMID:9766630 RGD:5135254 NCBI chr 4:73,869,393...73,871,308
Ensembl chr 4:73,869,393...73,871,308
JBrowse link
G CXCL2 C-X-C motif chemokine ligand 2 ISO mRNA:increased expression:multiple organs RGD PMID:9766630 RGD:5135254 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 ISO mRNA:increased expression:multiple organs RGD PMID:9766630 RGD:5135254 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 ISO mRNA:increased expression:multiple organs RGD PMID:9766630 RGD:5135254 NCBI chr 4:73,836,678...73,838,760
Ensembl chr 4:73,836,640...73,849,064
JBrowse link
G EDN1 endothelin 1 ISO mRNA, protein:increased expression:liver (rat) RGD PMID:11206318 RGD:8662297 NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194
JBrowse link
G EP300 E1A binding protein p300 ISO associated with Kidney Reperfusion Injury; protein:altered localization:kidney (rat) RGD PMID:23936185 RGD:7257563 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
JBrowse link
G EPHX2 epoxide hydrolase 2 ISO RGD PMID:19154430 RGD:5688360 NCBI chr 8:27,491,143...27,548,626
Ensembl chr 8:27,490,781...27,545,564
JBrowse link
G EPO erythropoietin treatment IDA RGD PMID:23214195 RGD:10400903 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700
JBrowse link
G F12 coagulation factor XII ISO RGD PMID:11092686 RGD:7394782 NCBI chr 5:177,402,141...177,409,564
Ensembl chr 5:177,402,133...177,416,583
JBrowse link
G F2 coagulation factor II, thrombin treatment
severity
ISO
IEP
associated with liver cirrhosis;protein:increased expression:blood plasma (human)
associated with liver cirrhosis;protein:increased expression:plasma (human)
RGD PMID:21396682 PMID:10604885 PMID:7615203 PMID:10887118 PMID:9863491 More... RGD:5147765, RGD:40818436, RGD:14974253, RGD:40818427, RGD:14401592, RGD:10449434, RGD:6893482, RGD:5147779 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
JBrowse link
G F3 coagulation factor III, tissue factor treatment ISO
IMP
associated with Protein C Deficiency RGD PMID:21396682 PMID:20858853 PMID:8956768 RGD:5147765, RGD:11341685, RGD:11340208 NCBI chr 1:94,529,173...94,541,759
Ensembl chr 1:94,529,173...94,541,759
JBrowse link
G F5 coagulation factor V ISO RGD PMID:11092686 RGD:7394782 NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588
JBrowse link
G F7 coagulation factor VII treatment ISO RGD PMID:11092686 PMID:16378835 RGD:7394782, RGD:11041650 NCBI chr13:113,105,788...113,120,685
Ensembl chr13:113,105,788...113,120,685
JBrowse link
G F8 coagulation factor VIII ISO RGD PMID:11092686 RGD:7394782 NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940
JBrowse link
G FAS Fas cell surface death receptor ISO mRNA, protein:increased expression:spleen (rat) RGD PMID:20428798 RGD:8662930 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
JBrowse link
G FGA fibrinogen alpha chain treatment ISO RGD PMID:19295478 RGD:11040925 NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,126...154,590,742
JBrowse link
G FOXP3 forkhead box P3 ISO protein:increased expression:intestinal mucosa RGD PMID:19998507 RGD:38455980 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800
JBrowse link
G GCH1 GTP cyclohydrolase 1 treatment ISO mRNA:increased expression:lung
associated with liver cirrhosis
RGD PMID:9388472 PMID:16845913 PMID:14647062 RGD:329961576, RGD:401793756, RGD:401700399 NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826
JBrowse link
G GFER growth factor, augmenter of liver regeneration ISO RGD PMID:23073658 RGD:9685733 NCBI chr16:1,984,193...1,987,749
Ensembl chr16:1,984,193...1,987,749
JBrowse link
G GHR growth hormone receptor ISO mRNA:decreased expression:liver RGD PMID:12654216 PMID:12217886 RGD:2307380, RGD:625688 NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878
JBrowse link
G GPT glutamic--pyruvic transaminase treatment ISO RGD PMID:25514429 RGD:401717525 NCBI chr 8:144,503,068...144,507,172
Ensembl chr 8:144,502,973...144,507,174
JBrowse link
G GSR glutathione-disulfide reductase treatment ISO RGD PMID:25469663 RGD:10401928 NCBI chr 8:30,678,066...30,727,846
Ensembl chr 8:30,678,066...30,727,846
JBrowse link
G HMGB1 high mobility group box 1 ISO protein:increased expression:heart, serum RGD PMID:18503231 RGD:10402065 NCBI chr13:30,456,704...30,617,597
Ensembl chr13:30,456,704...30,617,597
JBrowse link
G HMOX1 heme oxygenase 1 treatment ISO RGD PMID:21396999 RGD:10755715 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
JBrowse link
G HSF1 heat shock transcription factor 1 treatment ISO RGD PMID:25571843 RGD:10402404 NCBI chr 8:144,291,604...144,314,720
Ensembl chr 8:144,291,591...144,314,720
JBrowse link
G HSPA9 heat shock protein family A (Hsp70) member 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16741687 NCBI chr 5:138,553,756...138,575,401
Ensembl chr 5:138,553,756...138,575,675
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO
EXP
mRNA, protein:increased expression:medulla oblongata
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16741687 PMID:16675490 RGD:1624232 NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased expression:lung (rat) RGD PMID:19776691 RGD:4145502 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
JBrowse link
G IDO1 indoleamine 2,3-dioxygenase 1 ISO RGD PMID:24930766 PMID:28077574 RGD:39939032, RGD:39939117 NCBI chr 8:39,913,891...39,928,790
Ensembl chr 8:39,902,275...39,928,790
JBrowse link
G IDO2 indoleamine 2,3-dioxygenase 2 ISO RGD PMID:24930766 RGD:39939032 NCBI chr 8:39,934,651...40,016,392
Ensembl chr 8:39,934,614...40,016,392
JBrowse link
G IFNG interferon gamma ISO protein:increased expression:serum: RGD PMID:9195172 RGD:10755747 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IGF1 insulin like growth factor 1 ISO mRNA, protein:decreased expression:liver, serum RGD PMID:18492809 PMID:12217886 RGD:10402757, RGD:625688 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744
JBrowse link
G IGFALS insulin like growth factor binding protein acid labile subunit ISO RGD PMID:12217886 RGD:625688 NCBI chr16:1,790,413...1,794,908
Ensembl chr16:1,790,413...1,794,971
JBrowse link
G IGFBP1 insulin like growth factor binding protein 1 ISO RGD PMID:12217886 RGD:625688 NCBI chr 7:45,888,488...45,893,660
Ensembl chr 7:45,888,360...45,893,660
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO mRNA, protein:decreased expression:liver, serum RGD PMID:18492809 RGD:10402757 NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874
JBrowse link
G IGFBP5 insulin like growth factor binding protein 5 ISO RGD PMID:12217886 RGD:625688 NCBI chr 2:216,672,105...216,695,549
Ensembl chr 2:216,672,105...216,695,549
JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:28664613 PMID:27943364 RGD:14975137, RGD:14975170 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL13 interleukin 13 treatment IDA RGD PMID:10674721 RGD:8549626 NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
JBrowse link
G IL1A interleukin 1 alpha ISO protein:increased expression:plasma RGD PMID:9636192 PMID:22426124 RGD:6907109, RGD:7794786 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 ISO protein:increased expression:plasma RGD PMID:17201737 RGD:1626625 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 treatment ISO
IDA
mRNA:increased expression:lung, spleen, liver (rat) RGD PMID:1385928 PMID:8855299 RGD:8551846, RGD:11522760 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
JBrowse link
G IL32 interleukin 32 ameliorates IMP human gene in a mouse model RGD PMID:24743568 RGD:150340731 NCBI chr16:3,065,403...3,069,530
Ensembl chr16:3,065,297...3,082,192
JBrowse link
G IL6 interleukin 6 ISO associated with Diabetes Mellitus, Experimental; Protein:increased expression:extracellular space (rat)
protein:increased expression:serum (rat)
RGD PMID:19449282 PMID:22227956 PMID:21396682 RGD:2307179, RGD:6893482, RGD:5147765 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G IRAK3 interleukin 1 receptor associated kinase 3 IEP mRNA, protein:increased expression:blood (human) RGD PMID:17982103 RGD:36049802 NCBI chr12:66,189,214...66,254,622
Ensembl chr12:66,189,195...66,254,622
JBrowse link
G IRS1 insulin receptor substrate 1 ISO protein:increased tyrosine nitration, decreased tyrosine phosphorylation:skeletal muscle RGD PMID:21206533 RGD:6483008 NCBI chr 2:226,731,312...226,799,820
Ensembl chr 2:226,731,312...226,799,820
JBrowse link
G ITGA2B integrin subunit alpha 2b ISO RGD PMID:15280099 RGD:2316360 NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649
JBrowse link
G ITGB3 integrin subunit beta 3 ISO RGD PMID:15280099 RGD:2316360 NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743
JBrowse link
G KEAP1 kelch like ECH associated protein 1 ISO RGD PMID:22609006 RGD:6892951 NCBI chr19:10,486,125...10,503,356
Ensembl chr19:10,486,125...10,503,558
JBrowse link
G LBP lipopolysaccharide binding protein treatment ISO
IMP
mRNA:increased expression:hepatocyte RGD PMID:8418776 PMID:8593028 PMID:16307218 RGD:9685191, RGD:9685196, RGD:9685193 NCBI chr20:38,346,482...38,377,013
Ensembl chr20:38,346,482...38,377,013
JBrowse link
G LCN2 lipocalin 2 ISO mRNA:increased expression:brain,liver RGD PMID:21943033 RGD:126779582 NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453
JBrowse link
G MAP2 microtubule associated protein 2 ISO mRNA, protein:decreased expression:neuron RGD PMID:21421895 RGD:6483086 NCBI chr 2:209,424,047...209,734,112
Ensembl chr 2:209,424,047...209,734,147
JBrowse link
G MAPK14 mitogen-activated protein kinase 14 treatment ISO protein:increased activity:small intestine mucosa RGD PMID:21641970 PMID:24312512 RGD:5135029, RGD:10047418 NCBI chr 6:36,027,808...36,124,214
Ensembl chr 6:36,027,782...36,111,236
JBrowse link
G MAPK8 mitogen-activated protein kinase 8 ISO protein:increased phophorylation:hippocampus (rat) RGD PMID:12207162 RGD:150340687 NCBI chr10:48,306,677...48,439,360
Ensembl chr10:48,306,639...48,439,360
JBrowse link
G MC4R melanocortin 4 receptor ISO mRNA:increased expression:paraventricular nucleus (rat) RGD PMID:21343543 RGD:6484214 NCBI chr18:60,371,062...60,372,775
Ensembl chr18:60,371,062...60,372,775
JBrowse link
G MIF macrophage migration inhibitory factor ISO protein:increased expression:plasma RGD PMID:16601957 RGD:1641983 NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227
JBrowse link
G MIR146A microRNA 146a treatment ISO miRNA:increased expression:spleen (mouse) RGD PMID:30867482 RGD:34888227 NCBI chr 5:160,485,352...160,485,450
Ensembl chr 5:160,485,352...160,485,450
JBrowse link
G MIR155 microRNA 155 treatment ISO associated with familial hyperlipidemia RGD PMID:28970282 PMID:28264607 PMID:29079998 PMID:29979224 RGD:21079445, RGD:24922204, RGD:21081539, RGD:21081538 NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
JBrowse link
G MME membrane metalloendopeptidase severity ISO RGD PMID:11078421 RGD:13801040 NCBI chr 3:155,024,202...155,183,729
Ensembl chr 3:155,024,124...155,183,704
JBrowse link
G MMP3 matrix metallopeptidase 3 ISO RGD PMID:17083784 RGD:2290426 NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609
JBrowse link
G MT2A metallothionein 2A ISO mRNA:increased expression:liver (rat) RGD PMID:22100509 RGD:6483852 NCBI chr16:56,608,584...56,609,497
Ensembl chr16:56,608,584...56,609,497
JBrowse link
G MT3 metallothionein 3 ISO RGD PMID:12135776 RGD:10412330 NCBI chr16:56,589,528...56,591,085
Ensembl chr16:56,589,074...56,591,088
JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming ISO RGD PMID:19099858 RGD:7349370 NCBI chr11:1,074,874...1,110,508
Ensembl chr11:1,074,875...1,110,511
JBrowse link
G MYH6 myosin heavy chain 6 ISO RGD PMID:7874842 RGD:12792976 NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273
JBrowse link
G MYH7 myosin heavy chain 7 ISO RGD PMID:7874842 RGD:12792976 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660
JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 treatment ISO RGD PMID:26646455 RGD:42722616 NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756
JBrowse link
G NFKBIA NFKB inhibitor alpha exacerbates
treatment
ISO RGD PMID:19098124 PMID:10229101 RGD:126908017, RGD:126928139 NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749
JBrowse link
G NOS2 nitric oxide synthase 2 ISO
EXP
mRNA, protein:increased expression:intestine
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:12620498 PMID:16787348 PMID:20519137 RGD:4891470, RGD:5147779 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:increased expression:aorta (rat) RGD PMID:10462376 RGD:7794732 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G NPY neuropeptide Y treatment ISO RGD PMID:15342191 RGD:1580787 NCBI chr 7:24,284,190...24,291,862
Ensembl chr 7:24,284,188...24,291,862
JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 ISO RGD PMID:15640646 RGD:4892561 NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512
JBrowse link
G OTC ornithine transcarbamylase EXP CTD Direct Evidence: marker/mechanism CTD PMID:16741687 NCBI chr  X:38,327,684...38,422,928
Ensembl chr  X:38,327,598...38,422,908
JBrowse link
G PCK1 phosphoenolpyruvate carboxykinase 1 ISO RGD PMID:19268478 PMID:12217886 RGD:10427879, RGD:625688 NCBI chr20:57,561,110...57,568,121
Ensembl chr20:57,561,080...57,568,121
JBrowse link
G PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial ISO mRNA,protein:decreased expression,decreased activity:liver: RGD PMID:19268478 RGD:10427879 NCBI chr14:24,094,171...24,104,125
Ensembl chr14:24,094,053...24,110,598
JBrowse link
G PCSK1 proprotein convertase subtilisin/kexin type 1 ISO RGD PMID:16337011 RGD:6483567 NCBI chr 5:96,390,333...96,433,248
Ensembl chr 5:96,390,333...96,434,143
JBrowse link
G PCSK2 proprotein convertase subtilisin/kexin type 2 ISO RGD PMID:16337011 RGD:6483567 NCBI chr20:17,226,107...17,484,578
Ensembl chr20:17,226,107...17,484,578
JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 ISO RGD PMID:22119535 RGD:6771174 NCBI chr17:64,319,415...64,390,860
Ensembl chr17:64,319,415...64,413,776
JBrowse link
G PF4 platelet factor 4 treatment ISO RGD PMID:20601223 RGD:329901905 NCBI chr 4:73,980,811...73,982,124
Ensembl chr 4:73,980,811...73,982,027
JBrowse link
G PGF placental growth factor ISO protein:increased expression:multiple RGD PMID:16702604 RGD:6483601 NCBI chr14:74,941,830...74,955,764
Ensembl chr14:74,941,834...74,955,626
JBrowse link
G PLA2G7 phospholipase A2 group VII ISO protein:increased expression: : RGD PMID:10748027 RGD:7248791 NCBI chr 6:46,704,201...46,735,721
Ensembl chr 6:46,704,201...46,735,693
JBrowse link
G PLAT plasminogen activator, tissue type treatment IDA RGD PMID:9091588 RGD:11541073 NCBI chr 8:42,174,718...42,207,565
Ensembl chr 8:42,174,718...42,207,709
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO protein:increased expression:small intestine mucosa RGD PMID:21641970 RGD:5135029 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
JBrowse link
G PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 ISO mRNA:decreased expression:epididymal fat pad RGD PMID:20421294 RGD:6484543 NCBI chr 5:40,759,389...40,798,374
Ensembl chr 5:40,759,389...40,798,374
JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase ISO protein:increased expression:liver, mitochondrion (mouse) RGD PMID:28615325 RGD:13432559 NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775
JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa treatment IDA RGD PMID:18205901 PMID:23170801 RGD:11100030, RGD:11100034 NCBI chr 2:127,418,427...127,429,242
Ensembl chr 2:127,418,427...127,429,242
JBrowse link
G PTAFR platelet activating factor receptor treatment ISO RGD PMID:2178565 RGD:10041063 NCBI chr 1:28,147,166...28,193,856
Ensembl chr 1:28,147,166...28,193,936
JBrowse link
G PTGER4 prostaglandin E receptor 4 ISO protein:increased expression:paraventricular hypothalamic nucleus parvicellular division (rat) RGD PMID:11058222 RGD:10043329 NCBI chr 5:40,679,915...40,746,800
Ensembl chr 5:40,679,915...40,693,735
JBrowse link
G PTGIS prostaglandin I2 synthase treatment ISO RGD PMID:11076704 RGD:401960076 NCBI chr20:49,503,874...49,568,137
Ensembl chr20:49,503,874...49,568,137
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:21641970 RGD:5135029 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
JBrowse link
G REN renin ISO protein:increased activity:blood plasma (mouse)
protein:increased activity:blood plasma (rat)
RGD PMID:30027346 PMID:16512638 RGD:125097481, RGD:125097499 NCBI chr 1:204,154,819...204,166,337
Ensembl chr 1:204,154,819...204,190,324
JBrowse link
G SERPINC1 serpin family C member 1 treatment IDA
ISO
RGD PMID:16457847 PMID:21396682 PMID:20519137 PMID:15995859 RGD:1599326, RGD:5147765, RGD:5147779, RGD:1599332 NCBI chr 1:173,903,800...173,917,327
Ensembl chr 1:173,903,800...173,917,327
JBrowse link
G SERPINE1 serpin family E member 1 treatment ISO RGD PMID:21396682 PMID:25396762 RGD:5147765, RGD:10449434 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
G SERPINF1 serpin family F member 1 IEP protein:increased expression:plasma (human) RGD PMID:12386642 RGD:36174005 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
JBrowse link
G SERPING1 serpin family G member 1 treatment IDA RGD PMID:18652771 RGD:8661643 NCBI chr11:57,597,685...57,614,848
Ensembl chr11:57,597,387...57,619,171
JBrowse link
G SLC18A3 solute carrier family 18 member A3 ISO protein:decreased expression:parietal cortex RGD PMID:17306796 RGD:5686693 NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720
JBrowse link
G SLC22A1 solute carrier family 22 member 1 treatment ISO RGD PMID:18313662 RGD:7243881 NCBI chr 6:160,121,815...160,158,718
Ensembl chr 6:160,121,815...160,158,718
JBrowse link
G SLC22A2 solute carrier family 22 member 2 treatment ISO RGD PMID:18313662 RGD:7243881 NCBI chr 6:160,216,755...160,258,821
Ensembl chr 6:160,171,061...160,277,638
JBrowse link
G SLC38A3 solute carrier family 38 member 3 ISO RGD PMID:20036385 RGD:9999227 NCBI chr 3:50,205,271...50,221,486
Ensembl chr 3:50,205,246...50,221,486
JBrowse link
G SLC38A5 solute carrier family 38 member 5 ISO RGD PMID:20036385 RGD:9999227 NCBI chr  X:48,458,544...48,470,260
Ensembl chr  X:48,458,537...48,470,260
JBrowse link
G SLC7A5 solute carrier family 7 member 5 ISO RGD PMID:26337286 RGD:151361133 NCBI chr16:87,830,023...87,869,507
Ensembl chr16:87,830,023...87,869,507
JBrowse link
G SLPI secretory leukocyte peptidase inhibitor ISO RGD PMID:25466948 RGD:9999425 NCBI chr20:45,252,239...45,254,564
Ensembl chr20:45,252,239...45,254,564
JBrowse link
G SOCS1 suppressor of cytokine signaling 1 ISO mRNA:increased expression:liver, skeletal muscle RGD PMID:15169905 RGD:2298923 NCBI chr16:11,254,417...11,256,204
Ensembl chr16:11,254,417...11,256,204
JBrowse link
G SOCS3 suppressor of cytokine signaling 3 ISO mRNA:increased expression:liver, skeletal muscle RGD PMID:15169905 PMID:12217886 RGD:2298923, RGD:625688 NCBI chr17:78,356,778...78,360,925
Ensembl chr17:78,356,778...78,360,077
JBrowse link
G SOD2 superoxide dismutase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16741687 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G SPARC secreted protein acidic and cysteine rich ISO mRNA, protein:decreased expression:kidney RGD PMID:10703670 RGD:2300026 NCBI chr 5:151,661,096...151,686,915
Ensembl chr 5:151,661,096...151,686,975
JBrowse link
G STAT5B signal transducer and activator of transcription 5B ISO protein:decreased tyrosine phosphorylation:liver RGD PMID:17327369 RGD:1601383 NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633
JBrowse link
G TBXA2R thromboxane A2 receptor ISO RGD PMID:15647606 PMID:2580129 RGD:1601450, RGD:11059531 NCBI chr19:3,594,507...3,606,875
Ensembl chr19:3,594,507...3,606,875
JBrowse link
G TBXAS1 thromboxane A synthase 1 ISO RGD PMID:15647606 RGD:1601450 NCBI chr 7:139,778,242...140,020,293
Ensembl chr 7:139,777,051...140,020,325
JBrowse link
G TDO2 tryptophan 2,3-dioxygenase severity ISO RGD PMID:24930766 RGD:39939032 NCBI chr 4:155,903,696...155,920,406
Ensembl chr 4:155,854,738...155,920,406
JBrowse link
G TFPI tissue factor pathway inhibitor treatment IDA RGD PMID:17537762 RGD:11062086 NCBI chr 2:187,464,230...187,554,435
Ensembl chr 2:187,464,230...187,565,760
JBrowse link
G THBD thrombomodulin ISO
IDA
mRNA:decreased expression:endothelial cell RGD PMID:12611420 PMID:20348393 PMID:19487933 RGD:1601652, RGD:5685037, RGD:5684988 NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 ISO RGD PMID:17083784 RGD:2290426 NCBI chr22:32,801,705...32,863,041
Ensembl chr22:32,801,705...32,863,041
JBrowse link
G TLR2 toll like receptor 2 treatment ISO RGD PMID:22172266 RGD:7241094 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 treatment
disease_progression
ISO mRNA:increased expression:liver: RGD PMID:22172266 PMID:23977376 PMID:23977376 RGD:7241094, RGD:14697731, RGD:14697731 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
G TNF tumor necrosis factor treatment ISO protein:increased expression:plasma
XCO:0000822 JTE-607
associated with liver cirrhosis
protein:increased expression:plasma (rat)
RGD PMID:17324147 PMID:10493164 PMID:15242491 PMID:18078960 PMID:8283134 More... RGD:4891465, RGD:40903016, RGD:38501090, RGD:15023464, RGD:14995443, RGD:14995427, RGD:5147765, RGD:5147779 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 treatment ISO
IEP
RGD PMID:21507332 PMID:15585833 RGD:126925982, RGD:126928122 NCBI chr 6:41,267,385...41,286,682
Ensembl chr 6:41,267,926...41,286,682
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO mRNA:increased expression:brain: RGD PMID:20061033 RGD:7240511 NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045
JBrowse link
G VWF von Willebrand factor ISO protein:increased expression:endothelial cell: RGD PMID:2650559 RGD:11079230 NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770
JBrowse link
endotoxin shock term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GCH1 GTP cyclohydrolase 1 treatment ISO RGD PMID:8602831 RGD:329961578 NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826
JBrowse link
G HTR2A 5-hydroxytryptamine receptor 2A treatment ISO RGD PMID:19318092 RGD:401901206 NCBI chr13:46,831,546...46,898,082
Ensembl chr13:46,831,546...46,897,076
JBrowse link
Enterobacteriaceae Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSF3 colony stimulating factor 3 ISO RGD PMID:9835289 RGD:11039473 NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
JBrowse link
G FGF7 fibroblast growth factor 7 ISO mRNA:increased expression:distal colon (mouse) RGD PMID:10338516 RGD:126928149 NCBI chr15:49,423,242...49,488,775
Ensembl chr15:49,423,237...49,488,775
JBrowse link
Escherichia Coli Infections 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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24498193 NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323
JBrowse link
G CCL4 C-C motif chemokine ligand 4 ISO mRNA:increased expression:brain RGD PMID:16238536 RGD:5683919 NCBI chr17:36,103,827...36,105,614
Ensembl chr17:36,103,827...36,105,621
JBrowse link
G CCL4L2 C-C motif chemokine ligand 4 like 2 IEP mRNA:increased expression:brain (rat) RGD PMID:16238536 RGD:5683919 NCBI chr17:36,211,063...36,212,873
Ensembl chr17:36,210,924...36,212,878
JBrowse link
G HBA1 hemoglobin subunit alpha 1 treatment IDA RGD PMID:18786935 RGD:10449443 NCBI chr16:176,680...177,522
Ensembl chr16:176,680...177,522
JBrowse link
G HBA2 hemoglobin subunit alpha 2 treatment IDA RGD PMID:18786935 RGD:10449443 NCBI chr16:172,876...173,710
Ensembl chr16:172,876...173,710
JBrowse link
G IRAK3 interleukin 1 receptor associated kinase 3 treatment ISO RGD PMID:27832756 RGD:34888235 NCBI chr12:66,189,214...66,254,622
Ensembl chr12:66,189,195...66,254,622
JBrowse link
G LCN2 lipocalin 2 exacerbates ISO protein:increased expression:serum RGD PMID:25234944 PMID:16446425 PMID:25234944 RGD:126725084, RGD:126779557, RGD:126725084 NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453
JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming ISO RGD PMID:23798529 RGD:7349358 NCBI chr11:1,074,874...1,110,508
Ensembl chr11:1,074,875...1,110,511
JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 onset ISO protein:decreased expression:hippocampus RGD PMID:21411668 RGD:5684914 NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751
JBrowse link
G PLAC8 placenta associated 8 severity ISO RGD PMID:17404296 RGD:40924563 NCBI chr 4:83,090,048...83,114,729
Ensembl chr 4:83,090,048...83,137,075
JBrowse link
G RNASEL ribonuclease L severity ISO RGD PMID:19075243 RGD:40902812 NCBI chr 1:182,573,634...182,589,256
Ensembl chr 1:182,573,634...182,589,256
JBrowse link
G SLC6A4 solute carrier family 6 member 4 ISO RGD PMID:19747920 RGD:36947380 NCBI chr17:30,194,319...30,235,697
Ensembl chr17:30,194,319...30,236,002
JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:serum (rat) RGD PMID:9466473 RGD:38508904 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
Escherichia Coli Meningitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TLR2 toll like receptor 2 ISO mRNA:increased expression: : RGD PMID:12781911 RGD:7794740 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 mRNA:increased expression: : RGD PMID:12781911 RGD:7794740 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
G TLR7 toll like receptor 7 ISO mRNA:increased expression: : RGD PMID:12781911 RGD:7794740 NCBI chr  X:12,867,072...12,890,361
Ensembl chr  X:12,867,072...12,890,361
JBrowse link
eumycotic mycetoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COMT catechol-O-methyltransferase severity IAGP DNA:missense mutation:cds: (rs4680) (human) RGD PMID:20184498 RGD:8662334 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 IAGP DNA:SNP:promoter:g.-251T>A (human) RGD PMID:17709521 RGD:150523787 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
JBrowse link
G TLR2 toll like receptor 2 ISO mRNA:increased expression:footpad: RGD PMID:21205004 RGD:7794752 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 mRNA:decreased expression:footpad: RGD PMID:21205004 RGD:7794752 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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
Familial Acne Inversa 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NCSTN nicastrin IAGP ClinVar Annotator: match by term: Acne inversa, familial, 1
ClinVar Annotator: match by term: Acne inversa, familial, 1 | ClinVar Annotator: match by term: NCSTN-related condition
ClinVar
OMIM
PMID:20929727 PMID:21412258 PMID:22358060 PMID:25693063 PMID:25741868 More... NCBI chr 1:160,343,383...160,358,949
Ensembl chr 1:160,343,294...160,358,952
JBrowse link
Familial Acne Inversa 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PSENEN presenilin enhancer, gamma-secretase subunit IAGP ClinVar Annotator: match by term: Acne inversa, familial, 2 ClinVar
OMIM
PMID:20929727 PMID:21412258 PMID:25741868 PMID:27900998 PMID:28287404 More... NCBI chr19:35,745,651...35,747,519
Ensembl chr19:35,745,600...35,747,519
JBrowse link
Familial Acne Inversa 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PSEN1 presenilin 1 IAGP ClinVar Annotator: match by term: Acne inversa, familial, 3 ClinVar
OMIM
PMID:7596406 PMID:7623585 PMID:8538334 PMID:8634712 PMID:8733303 More... NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691
JBrowse link
Familial Hidradenitis Suppurativa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NCSTN nicastrin EXP CTD Direct Evidence: marker/mechanism CTD PMID:20929727 NCBI chr 1:160,343,383...160,358,949
Ensembl chr 1:160,343,294...160,358,952
JBrowse link
G PSEN1 presenilin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20929727 NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691
JBrowse link
G PSENEN presenilin enhancer, gamma-secretase subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:20929727 NCBI chr19:35,745,651...35,747,519
Ensembl chr19:35,745,600...35,747,519
JBrowse link
Furunculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASIP agouti signaling protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:32937126 NCBI chr20:34,186,493...34,269,344
Ensembl chr20:34,194,569...34,269,344
JBrowse link
Fusobacterium Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIR21 microRNA 21 severity IEP associated with colorectal cancer RGD PMID:27876571 RGD:40925941 NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
JBrowse link
gas gangrene term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GSN gelsolin IEP protein:decreased expression:blood serum (human) RGD PMID:9142022 RGD:329333022 NCBI chr 9:121,201,483...121,332,842
Ensembl chr 9:121,207,794...121,332,843
JBrowse link
genital herpes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL5 C-C motif chemokine ligand 5 ISO RGD PMID:12502811 RGD:4890015 NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
JBrowse link
G IFNAR1 interferon alpha and beta receptor subunit 1 exacerbates ISO RGD PMID:28264883 RGD:125093738 NCBI chr21:33,324,395...33,359,864
Ensembl chr21:33,324,387...33,359,864
JBrowse link
G IFNG interferon gamma ISO protein:increased expression:vaginal secretion: RGD PMID:10366565 RGD:8158034 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IL21 interleukin 21 treatment ISO RGD PMID:24358128 RGD:127285365 NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066
JBrowse link
G IL3 interleukin 3 IEP RNA: increased expression RGD PMID:21175248 RGD:5686876 NCBI chr 5:132,060,655...132,063,204
Ensembl chr 5:132,060,655...132,063,204
JBrowse link
G IRF9 interferon regulatory factor 9 exacerbates ISO RGD PMID:28264883 RGD:125093738 NCBI chr14:24,161,265...24,166,565
Ensembl chr14:24,161,234...24,168,043
JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ameliorates ISO RGD PMID:31555293 RGD:42722615 NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756
JBrowse link
G RNASEL ribonuclease L severity ISO RGD PMID:17157346 RGD:40902623 NCBI chr 1:182,573,634...182,589,256
Ensembl chr 1:182,573,634...182,589,256
JBrowse link
G STAT4 signal transducer and activator of transcription 4 treatment
severity
IAGP DNA:SNP:intron:rs7572482 (human)
DNA:SNPs, haplotype: :multiple
RGD PMID:22718836 PMID:22718836 RGD:8661697, RGD:8661697 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435
JBrowse link
Gram-Negative Bacterial Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMER1 APC membrane recruitment protein 1 IAGP associated with colorectal cancer;DNA:mutation:multiple (human) RGD PMID:30062471 RGD:151665182 NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708
JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit susceptibility IAGP associated with Cystic Fibrosis;DNA:SNP,haplotype:promoter:-129C >T,-3506A >G (human) RGD PMID:24593045 RGD:10401929 NCBI chr 6:53,497,341...53,545,101
Ensembl chr 6:53,497,341...53,616,970
JBrowse link
G IL17A interleukin 17A susceptibility IAGP Moraxellaceae Infections; associated with Bronchiolitis;DNA:SNP:promoter:rs2275913 (human) RGD PMID:20437253 RGD:4889139 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
JBrowse link
G IL1B interleukin 1 beta ISO protein:increased expression:lung (mouse) RGD PMID:20308302 RGD:4142825 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G RNASE3 ribonuclease A family member 3 EXP CTD Direct Evidence: therapeutic CTD PMID:21696142 NCBI chr14:20,891,385...20,892,348
Ensembl chr14:20,891,385...20,892,348
JBrowse link
G SLC6A4 solute carrier family 6 member 4 ISO protein:decreased expression:colon (mouse) RGD PMID:16548890 RGD:38676481 NCBI chr17:30,194,319...30,235,697
Ensembl chr17:30,194,319...30,236,002
JBrowse link
G UGT1A1 UDP glucuronosyltransferase family 1 member A1 ISO mRNA:decreased expression:liver RGD PMID:16339353 RGD:6482852 NCBI chr 2:233,760,270...233,773,300
Ensembl chr 2:233,760,270...233,773,300
JBrowse link
Gram-Positive Bacterial Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ICOS inducible T cell costimulator ISO RGD PMID:12421962 RGD:1624276 NCBI chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577
JBrowse link
G RNASE3 ribonuclease A family member 3 EXP CTD Direct Evidence: therapeutic CTD PMID:21696142 NCBI chr14:20,891,385...20,892,348
Ensembl chr14:20,891,385...20,892,348
JBrowse link
G TLR2 toll like receptor 2 ISO RGD PMID:18354210 RGD:7240560 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
JBrowse link
Haemophilus Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IRAK3 interleukin 1 receptor associated kinase 3 severity ISO RGD PMID:25585690 RGD:11527046 NCBI chr12:66,189,214...66,254,622
Ensembl chr12:66,189,195...66,254,622
JBrowse link
G LCN2 lipocalin 2 ISO mRNA,protein:increased expression:respiratory epithelium, olfactory mucosa epithelium RGD PMID:16153241 RGD:126781709 NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453
JBrowse link
G MIR21 microRNA 21 ameliorates ISO associated with asthma; RGD PMID:27448447 RGD:41404696 NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO mRNA, protein:increased expression:macrophage, lung: RGD PMID:27330052 RGD:39131287 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 ISO mRNA,protein:increased expression:lung (mouse) RGD PMID:29421524 RGD:39128228 NCBI chr 5:139,475,533...139,482,758
Ensembl chr 5:139,475,533...139,482,935
JBrowse link
haemophilus meningitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FCGR2A Fc gamma receptor IIa susceptibility IAGP associated with Anemia, Sickle Cell;DNA:polymorphism:cds:p.H131R(human) RGD PMID:8648541 RGD:11040885 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013
JBrowse link
Helicobacter Infections 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 sexual_dimorphism
no_association
IAGP associated with peptic ulcer disease;DNA:SNP: :3435C>T(human)
DNA:haplotype: :3435T> C,2677T>G ,1236C>T (human)
RGD PMID:22001987 PMID:27611887 RGD:39456093, RGD:39456122 NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323
JBrowse link
G ACE angiotensin I converting enzyme susceptibility IAGP DNA:insertion/deletion:intron: RGD PMID:28746216 RGD:40400710 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G ACVR1B activin A receptor type 1B disease_progression IEP associated with stomach cancer;mRNA:increased expression:stomach: RGD PMID:32066878 RGD:151665490 NCBI chr12:51,951,699...51,997,078
Ensembl chr12:51,951,699...51,997,078
JBrowse link
G AICDA activation induced cytidine deaminase IEP protein:increased expression:mucosa of stomach (human) RGD PMID:23591766 RGD:127285627 NCBI chr12:8,602,170...8,612,859
Ensembl chr12:8,602,155...8,613,242
JBrowse link
G ATM ATM serine/threonine kinase IEP
HEP
associated with stomach cancer;mRNA:increased expression:stomach (human)
associated with gastritis;mRNA:increased expression:mucosa of stomach (human)
RGD PMID:29128564 PMID:25069978 RGD:126790563, RGD:126790566 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 treatment IEP
IAGP
associated with stomach cancer
associated with MALT lymphoma;DNA:gene fusion: (human)
RGD PMID:27282269 PMID:11398794 RGD:153297818, RGD:153305954 NCBI chr11:102,317,484...102,339,403
Ensembl chr11:102,317,484...102,339,403
JBrowse link
G CCND2 cyclin D2 treatment IEP associated with Gastrointestinal Neoplasms or gastritis
mRNA:increased expression:stomach:
RGD PMID:11552926 PMID:12133540 RGD:151665103, RGD:151665119 NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353
JBrowse link
G CD1D CD1d molecule IEP associated with dyspepsia;mRNA:splice variant:pyloric antrum (human) RGD PMID:26119195 RGD:11074500 NCBI chr 1:158,178,030...158,186,427
Ensembl chr 1:158,178,030...158,186,427
JBrowse link
G CDH1 cadherin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19184424 NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B EXP CTD Direct Evidence: marker/mechanism CTD PMID:15138205 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
JBrowse link
G CXCL6 C-X-C motif chemokine ligand 6 disease_progression ISO mRNA:altered expression:gastric antrum (mouse) RGD PMID:29085807 RGD:38549349 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 disease_progression ISO associated with gastritis;mRNA:increased expression:stomach (mouse, Helicobacter felis)
mRNA:altered expression:gastric antrum (mouse)
RGD PMID:17242461 PMID:29085807 RGD:38549339, RGD:38549349 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
JBrowse link
G CYBB cytochrome b-245 beta chain disease_progression IEP mRNA,protein:increased expression:mucosa of stomach (human) RGD PMID:27048452 RGD:40924640 NCBI chr  X:37,780,059...37,813,461
Ensembl chr  X:37,780,018...37,813,461
JBrowse link
G CYP2C19 cytochrome P450 family 2 subfamily C member 19 treatment
no_association
IAGP DNA:polymorphisms:exons:
DNA:polymorphisms::
RGD PMID:9867757 PMID:27706745 PMID:15691303 RGD:124713408, RGD:124713537, RGD:124713409 NCBI chr10:94,762,681...94,855,547
Ensembl chr10:94,762,681...94,855,547
JBrowse link
G CYSLTR1 cysteinyl leukotriene receptor 1 treatment IEP RGD PMID:18571838 RGD:40903061 NCBI chr  X:78,271,468...78,327,611
Ensembl chr  X:78,271,468...78,327,691
JBrowse link
G DUOX2 dual oxidase 2 disease_progression IEP mRNA,protein:decreased expression:mucosa of stomach (human) RGD PMID:27048452 RGD:40924640 NCBI chr15:45,092,650...45,114,172
Ensembl chr15:45,092,650...45,114,172
JBrowse link
G EGF epidermal growth factor treatment IEP associated with gastritis; RGD PMID:25051417 RGD:38599160 NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766
JBrowse link
G EGFR epidermal growth factor receptor treatment IEP
ISO
associated with gastritis; RGD PMID:25051417 PMID:28473630 RGD:38599160, RGD:38599214 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 treatment IEP associated with gastritis; RGD PMID:25051417 RGD:38599160 NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426
JBrowse link
G F2R coagulation factor II thrombin receptor ISO RGD PMID:24866378 RGD:40924630 NCBI chr 5:76,716,126...76,735,770
Ensembl chr 5:76,716,126...76,735,770
JBrowse link
G GAB1 GRB2 associated binding protein 1 susceptibility IAGP DNA:SNP:intron: RGD PMID:17211494 RGD:39128202 NCBI chr 4:143,336,876...143,474,565
Ensembl chr 4:143,336,876...143,474,565
JBrowse link
G HAMP hepcidin antimicrobial peptide treatment IEP RGD PMID:21757452 RGD:11041721 NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143
JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 resistance IAGP associated with Diabetes Mellitus, Insulin-Dependent RGD PMID:11860411 RGD:2301818 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 Purpura, Thrombocytopenic, Idiopathic;DNA:polymorphisms (human)
DNA:polymorphisms: :HLA-DQB1*301, HLA-DQB1*04(human)
RGD PMID:16011982 PMID:15833172 RGD:5147649, RGD:36049761 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 associated with Purpura, Thrombocytopenic, Idiopathic;DNA:polymorphisms (human)
DNA:polymorphisms: :HLA-DRB1*11, HLA-DRB1*12(human)
RGD PMID:16011982 PMID:15833172 RGD:5147649, RGD:36049761 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G HMOX1 heme oxygenase 1 IEP RGD PMID:16100019 RGD:1598398 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
JBrowse link
G IFNG interferon gamma disease_progression ISO mRNA:altered expression:gastric antrum (mouse) RGD PMID:29085807 RGD:38549349 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
EXP
ClinVar Annotator: match by term: Helicobacter pylori infection, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:10192386 PMID:11583830 PMID:12516030 PMID:16690980 PMID:18171304 More... NCBI chr 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449
JBrowse link
G IL1B interleukin 1 beta disease_progression ISO mRNA:altered expression:gastric antrum (mouse) RGD PMID:29085807 RGD:38549349 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL21 interleukin 21 IEP
ISO
mRNA, protein:increased expression:mucosa of stomach (human) RGD PMID:17442980 PMID:31383743 RGD:127285542, RGD:127285544 NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066
JBrowse link
G IL33 interleukin 33 severity IEP associated with Helicobacter Infections;DNA:SNP: : rs1929992(human)
mRNA:increased expression:stomach
RGD PMID:31491552 PMID:31320834 RGD:39938849, RGD:39939030 NCBI chr 9:6,215,149...6,257,983
Ensembl chr 9:6,215,786...6,257,983
JBrowse link
G IL6 interleukin 6 disease_progression ISO mRNA:altered expression:gastric antrum (mouse) RGD PMID:29085807 RGD:38549349 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G LCN2 lipocalin 2 IEP protein:increased expression:gastric mucosa RGD PMID:19727808 RGD:126781713 NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453
JBrowse link
G LTB4R leukotriene B4 receptor treatment IEP RGD PMID:18571838 RGD:40903061 NCBI chr14:24,311,502...24,318,036
Ensembl chr14:24,311,450...24,318,036
JBrowse link
G MAPK8 mitogen-activated protein kinase 8 IEP protein:increased expression:pyloric antrum (human) RGD PMID:17643099 RGD:150340691 NCBI chr10:48,306,677...48,439,360
Ensembl chr10:48,306,639...48,439,360
JBrowse link
G MIR155 microRNA 155 IEP
ISO
miRNA:increased expression:stomach RGD PMID:29250766 PMID:28560185 RGD:21408595, RGD:25671377 NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
JBrowse link
G MIR222 microRNA 222 IEP associated with stomach cancer;RNA:increased expression:stomach: RGD PMID:29227536 RGD:151708731 NCBI chr  X:45,747,015...45,747,124
Ensembl chr  X:45,747,015...45,747,124
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility IAGP associated with stomach cancer;DNA:missense mutation:cds:g.677C>T (human) RGD PMID:23183616 PMID:20957490 RGD:38501056, RGD:38501057 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G MUC6 mucin 6, oligomeric mucus/gel-forming IEP protein:increased expression:stomach epithelium RGD PMID:15280409 RGD:7364760 NCBI chr11:1,012,823...1,036,718
Ensembl chr11:1,012,823...1,036,718
JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor ISO RGD PMID:28201999 RGD:150519916 NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,552...38,143,024
JBrowse link
G PDCD1 programmed cell death 1 severity IEP RGD PMID:21562113 RGD:40818417 NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894
JBrowse link
G PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28220687 NCBI chr 5:40,759,389...40,798,374
Ensembl chr 5:40,759,389...40,798,374
JBrowse link
G PSCA prostate stem cell antigen EXP CTD Direct Evidence: marker/mechanism CTD PMID:28220687 NCBI chr 8:142,670,297...142,682,725
Ensembl chr 8:142,670,308...142,682,725
JBrowse link
G PTEN phosphatase and tensin homolog IEP associated with gastritis;protein:increased phosphorylation:stomach (human) RGD PMID:26376616 RGD:127285599 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 susceptibility IAGP DNA:SNP:intron: rs2301756(human) RGD PMID:19589142 RGD:39128247 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
JBrowse link
G PTPRZ1 protein tyrosine phosphatase receptor type Z1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17030583 NCBI chr 7:121,873,161...122,062,036
Ensembl chr 7:121,873,089...122,062,036
JBrowse link
G SLC6A4 solute carrier family 6 member 4 IAGP DNA:repeats:promoter: RGD PMID:24720453 RGD:36947385 NCBI chr17:30,194,319...30,235,697
Ensembl chr17:30,194,319...30,236,002
JBrowse link
G SOCS3 suppressor of cytokine signaling 3 ISO mRNA, protein:increased expression RGD PMID:17405912 RGD:1625683 NCBI chr17:78,356,778...78,360,925
Ensembl chr17:78,356,778...78,360,077
JBrowse link
G TFF1 trefoil factor 1 disease_progression ISO mRNA:altered expression:gastric antrum (mouse) RGD PMID:29085807 RGD:38549349 NCBI chr21:42,362,282...42,366,535
Ensembl chr21:42,362,282...42,366,535
JBrowse link
G TFF2 trefoil factor 2 disease_progression IEP
ISO
protein:increased expression:stomach epithelium
mRNA:altered expression:gastric antrum (mouse)
RGD PMID:15280409 PMID:29085807 RGD:7364760, RGD:38549349 NCBI chr21:42,346,357...42,350,994
Ensembl chr21:42,346,357...42,350,997
JBrowse link
G TFF3 trefoil factor 3 disease_progression ISO mRNA:altered expression:gastric antrum (mouse) RGD PMID:29085807 RGD:38549349 NCBI chr21:42,311,667...42,315,409
Ensembl chr21:42,311,667...42,315,409
JBrowse link
G TFRC transferrin receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:16733738 PMID:17163184 NCBI chr 3:196,049,284...196,082,090
Ensembl chr 3:196,012,511...196,082,153
JBrowse link
G VIP vasoactive intestinal peptide ISO protein:increased expression:spinal cord, stomach RGD PMID:19906107 RGD:5685602 NCBI chr 6:152,750,797...152,759,760
Ensembl chr 6:152,750,797...152,759,765
JBrowse link
hidradenitis suppurativa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD163 CD163 molecule IEP protein:increased expression:dermis (human) RGD PMID:29603182 RGD:127285799 NCBI chr12:7,470,811...7,503,777
Ensembl chr12:7,470,811...7,503,893
JBrowse link
G GJB2 gap junction protein beta 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16172043 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938
JBrowse link
G IL17D interleukin 17D sexual_dimorphism HEP mRNA:increased expression:apocrine gland (human) RGD PMID:32031713 RGD:40903066 NCBI chr13:20,701,513...20,723,098
Ensembl chr13:20,702,127...20,723,098
JBrowse link
G IL32 interleukin 32 exacerbates IEP mRNA,protein:increased expression:zone of skin, blood serum (human) RGD PMID:28301691 RGD:150340720 NCBI chr16:3,065,403...3,069,530
Ensembl chr16:3,065,297...3,082,192
JBrowse link
G LCN2 lipocalin 2 disease_progression IEP RGD PMID:28256718 RGD:126781708 NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453
JBrowse link
G MEFV MEFV innate immunity regulator, pyrin EXP CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
JBrowse link
G NLRP3 NLR family pyrin domain containing 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108
JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
JBrowse link
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr15:76,994,680...77,037,475
Ensembl chr15:76,993,359...77,037,475
JBrowse link
G TNF tumor necrosis factor IAGP DNA:polymorphism,haplotype:promoter:-238G>A(human) RGD PMID:23106544 RGD:7777155 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
HIV Encephalitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APP amyloid beta precursor protein IEP RGD PMID:29632166 RGD:13782045 NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128
JBrowse link
G BACE1 beta-secretase 1 IEP RGD PMID:29632166 RGD:13782045 NCBI chr11:117,285,698...117,316,256
Ensembl chr11:117,285,232...117,316,259
JBrowse link
G CD68 CD68 molecule IEP protein:increased expression:brain (human) RGD PMID:15488024 RGD:40925943 NCBI chr17:7,579,638...7,582,111
Ensembl chr17:7,579,491...7,582,111
JBrowse link
G CDK5 cyclin dependent kinase 5 ISO protein:increased tyrosine phosphorylation:hippocampus RGD PMID:28107387 RGD:13506927 NCBI chr 7:151,053,815...151,057,897
Ensembl chr 7:151,053,815...151,057,897
JBrowse link
G MFN1 mitofusin 1 IEP associated with HIV Infections;protein:increased expression:frontal cortex, membrane (human) RGD PMID:26611103 RGD:12910851 NCBI chr 3:179,347,709...179,394,936
Ensembl chr 3:179,347,709...179,394,936
JBrowse link
G OLIG2 oligodendrocyte transcription factor 2 HEP RGD PMID:15579294 RGD:40902823 NCBI chr21:33,025,935...33,029,185
Ensembl chr21:33,025,935...33,029,196
JBrowse link
HIV Seropositivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALB albumin EXP CTD Direct Evidence: marker/mechanism CTD PMID:17209195 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
JBrowse link
G APH1B aph-1 homolog B, gamma-secretase subunit susceptibility IAGP DNA:SNP:CDS:p.F217L (rs1047552) (human) RGD PMID:19774691 RGD:13703126 NCBI chr15:63,277,605...63,309,126
Ensembl chr15:63,276,018...63,309,126
JBrowse link
G CLEC4M C-type lectin domain family 4 member M susceptibility IAGP DNA:repeats:exon 4
DNA:repeat:
RGD PMID:25656622 PMID:20217198 PMID:16453266 RGD:11520989, RGD:39938989, RGD:39938979 NCBI chr19:7,763,243...7,769,605
Ensembl chr19:7,763,210...7,769,605
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP DNA:polymorphism (human) RGD PMID:20224785 RGD:5147578 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G IFNL4 interferon lambda 4 (gene/pseudogene) susceptibility IAGP DNA:frameshift mutation:5'utr: (rs368234815) (human) RGD PMID:30289470 PMID:26372394 RGD:40886284, RGD:11344677 NCBI chr19:39,246,314...39,248,856
Ensembl chr19:39,246,314...39,248,856
JBrowse link
G KIR2DL1 killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 1 treatment IEP RGD PMID:18724804 RGD:40818277 NCBI chr19:54,769,793...54,784,322
Ensembl chr19:54,769,793...54,784,322
JBrowse link
G KIR2DS4 killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 4 treatment IEP RGD PMID:18724804 RGD:40818277 NCBI chr19:54,832,707...54,848,575
Ensembl chr19:54,832,676...54,848,569
JBrowse link
G KIR3DS1 killer cell immunoglobulin like receptor, three Ig domains and short cytoplasmic tail 1 disease_progression IAGP DNA:CNV: (human) RGD PMID:25330014 RGD:150340563
G KLRK1 killer cell lectin like receptor K1 IEP protein:increased expression:peripheral blood mononuclear cell,natural killer cell (human) RGD PMID:27091211 RGD:40818300 NCBI chr12:10,372,353...10,390,041
Ensembl chr12:10,372,353...10,391,874
JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 treatment IEP protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) RGD PMID:18724804 PMID:27091211 RGD:40818277, RGD:40818300 NCBI chr19:54,898,198...54,938,208
Ensembl chr19:54,906,148...54,916,140
JBrowse link
G NEFL neurofilament light chain treatment IEP RGD PMID:30105502 RGD:127284876 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721
JBrowse link
HIV Wasting Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1A interleukin 1 alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:7979221 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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL6 interleukin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
HIV-Associated Lipodystrophy Syndrome 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 RGD PMID:12876073 RGD:8694470 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
JBrowse link
G ADRB3 adrenoceptor beta 3 IAGP DNA:missense mutation:cds:p.W64R rs4994 (human) RGD PMID:10930169 RGD:5684895 NCBI chr 8:37,962,990...37,966,599
Ensembl chr 8:37,962,990...37,966,599
JBrowse link
G IL18 interleukin 18 susceptibility IAGP
IEP
DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human) RGD PMID:20331838 PMID:15353983 RGD:8655915, RGD:8655934 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
JBrowse link
G LMNA lamin A/C EXP CTD Direct Evidence: marker/mechanism CTD PMID:18230615 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
JBrowse link
G MMP1 matrix metallopeptidase 1 IAGP DNA:SNP RGD PMID:20852404 RGD:8549721 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18230615 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180
JBrowse link
human immunodeficiency virus infectious disease 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
severity
ISO
IAGP
IEP
mRNA:altered expression:brain, heart, kidney (rat)
DNA:SNPs: :4036A>G, 1236C>T (human)
RGD PMID:24472536 PMID:23133441 PMID:27334660 RGD:11041168, RGD:39456100, RGD:39456096 NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323
JBrowse link
G ABCE1 ATP binding cassette subfamily E member 1 IAGP DNA:mutations:multiple (human) RGD PMID:19657357 RGD:11041871 NCBI chr 4:145,098,311...145,129,524
Ensembl chr 4:145,098,288...145,129,524
JBrowse link
G ADRB2 adrenoceptor beta 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27400929 NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623
JBrowse link
G AICDA activation induced cytidine deaminase IEP mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:30219203 RGD:127285639 NCBI chr12:8,602,170...8,612,859
Ensembl chr12:8,602,155...8,613,242
JBrowse link
G ALB albumin EXP CTD Direct Evidence: marker/mechanism CTD PMID:16903978 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
JBrowse link
G ALYREF Aly/REF export factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr17:81,887,835...81,891,587
Ensembl chr17:81,887,835...81,891,586
JBrowse link
G APOA1 apolipoprotein A1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12646808 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622
JBrowse link
G ARAP3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 5:141,653,402...141,682,230
Ensembl chr 5:141,653,401...141,682,230
JBrowse link
G ARHGAP4 Rho GTPase activating protein 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr  X:153,907,378...153,926,264
Ensembl chr  X:153,907,367...153,934,999
JBrowse link
G ARHGDIA Rho GDP dissociation inhibitor alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr17:81,867,721...81,871,337
Ensembl chr17:81,867,721...81,871,378
JBrowse link
G ARHGDIB Rho GDP dissociation inhibitor beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr12:14,942,015...14,961,601
Ensembl chr12:14,942,031...14,961,728
JBrowse link
G ATM ATM serine/threonine kinase IEP protein:decreased expression:T cell (human) RGD PMID:31781094 RGD:126790561 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
JBrowse link
G BAG3 BAG cochaperone 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17187345 NCBI chr10:119,651,380...119,677,819
Ensembl chr10:119,651,380...119,677,819
JBrowse link
G BAX BCL2 associated X, apoptosis regulator EXP CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
JBrowse link
G BIRC2 baculoviral IAP repeat containing 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr11:102,347,214...102,378,670
Ensembl chr11:102,347,211...102,378,670
JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr11:102,317,484...102,339,403
Ensembl chr11:102,317,484...102,339,403
JBrowse link
G BISPR BST2 interferon stimulated positive regulator IAGP ClinVar Annotator: match by term: Human immunodeficiency virus type 1, rapid progression to AIDS ClinVar NCBI chr19:17,405,686...17,415,736
Ensembl chr19:17,405,686...17,419,324
JBrowse link
G BST2 bone marrow stromal cell antigen 2 IAGP ClinVar Annotator: match by term: Human immunodeficiency virus type 1, rapid progression to AIDS ClinVar NCBI chr19:17,402,939...17,405,630
Ensembl chr19:17,402,939...17,405,630
JBrowse link
G C3 complement C3 IEP RGD PMID:7561187 RGD:11040775 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
JBrowse link
G CCL11 C-C motif chemokine ligand 11 susceptibility IAGP
EXP
IEP
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma
ClinVar
OMIM
CTD
RGD
PMID:14571188 PMID:27246604 RGD:14995461 NCBI chr17:34,285,742...34,288,334
Ensembl chr17:34,285,742...34,288,334
JBrowse link
G CCL2 C-C motif chemokine ligand 2 EXP
IAGP
IEP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
protein:increased expression:plasma
CTD
ClinVar
RGD
PMID:14571188 PMID:27246604 RGD:14995461 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
JBrowse link
G CCL3 C-C motif chemokine ligand 3 IAGP
EXP
CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr17:36,088,256...36,090,143
Ensembl chr17:36,088,256...36,090,169
JBrowse link
G CCL3L1 C-C motif chemokine ligand 3 like 1 susceptibility IAGP
EXP
CTD Direct Evidence: marker/mechanism OMIM
CTD
Ensembl chr17:36,194,869...36,196,758 JBrowse link
G CCL4 C-C motif chemokine ligand 4 susceptibility IEP RGD PMID:16250882 RGD:5683897 NCBI chr17:36,103,827...36,105,614
Ensembl chr17:36,103,827...36,105,621
JBrowse link
G CCL4L2 C-C motif chemokine ligand 4 like 2 disease_progression IAGP RGD PMID:19279442 RGD:41404638 NCBI chr17:36,211,063...36,212,873
Ensembl chr17:36,210,924...36,212,878
JBrowse link
G CCL5 C-C motif chemokine ligand 5 IAGP
EXP
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, rapid disease progression with infection by
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, delayed disease progression with infection by
ClinVar
CTD
OMIM
PMID:10200305 PMID:12114533 PMID:12610055 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 susceptibility EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
CTD
OMIM
ClinVar
PMID:9252328 PMID:9662369 PMID:25741868 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940
JBrowse link
G CCR3 C-C motif chemokine receptor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10202824 NCBI chr 3:46,210,696...46,266,706
Ensembl chr 3:46,130,890...46,266,706
JBrowse link
G CCR5 C-C motif chemokine receptor 5 susceptibility IEP
IAGP
EXP
protein:decreased expression:blood, T cell (human)
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, increased perinatal transmission of
OMIM
ClinVar
CTD
RGD
PMID:8639485 PMID:8751444 PMID:8756719 PMID:9055842 PMID:9132277 More... RGD:4892094 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
JBrowse link
G CCR5AS CCR5 antisense RNA IAGP ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, increased perinatal transmission of
ClinVar PMID:8639485 PMID:8751444 PMID:8756719 PMID:9055842 PMID:9132277 More... NCBI chr 3:46,363,984...46,407,066
Ensembl chr 3:46,364,391...46,407,117
JBrowse link
G CCT3 chaperonin containing TCP1 subunit 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 1:156,308,968...156,338,292
Ensembl chr 1:156,308,968...156,367,873
JBrowse link
G CCT5 chaperonin containing TCP1 subunit 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 5:10,249,921...10,266,412
Ensembl chr 5:10,249,929...10,266,389
JBrowse link
G CCT7 chaperonin containing TCP1 subunit 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 2:73,234,308...73,253,005
Ensembl chr 2:73,233,420...73,253,021
JBrowse link
G CD163 CD163 molecule exacerbates
treatment
IEP protein:increased expression:blood plasma (human) RGD PMID:23916293 PMID:24594990 RGD:127285682, RGD:149735575 NCBI chr12:7,470,811...7,503,777
Ensembl chr12:7,470,811...7,503,893
JBrowse link
G CD209 CD209 molecule IAGP
EXP
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:15564514 PMID:15838506 PMID:16379498 PMID:25741868 NCBI chr19:7,739,993...7,747,534
Ensembl chr19:7,739,993...7,747,564
JBrowse link
G CD274 CD274 molecule IEP RGD PMID:30161254 PMID:30236481 RGD:41412179, RGD:41412181 NCBI chr 9:5,450,542...5,470,554
Ensembl chr 9:5,450,503...5,470,566
JBrowse link
G CD28 CD28 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:7492435 NCBI chr 2:203,706,482...203,738,912
Ensembl chr 2:203,706,475...203,738,912
JBrowse link
G CD40 CD40 molecule IEP protein:increased expression:plasmacytoid dendritic cell RGD PMID:20559432 RGD:5490533 NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
JBrowse link
G CD40LG CD40 ligand IDA RGD PMID:21177803 RGD:5490598 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
G CD68 CD68 molecule disease_progression IEP associated with opioid use;protein:increased expression:brain (human) RGD PMID:22797933 RGD:41404655 NCBI chr17:7,579,638...7,582,111
Ensembl chr17:7,579,491...7,582,111
JBrowse link
G CD8A CD8 subunit alpha treatment HEP RGD PMID:29384862 RGD:124715453 NCBI chr 2:86,784,605...86,808,396
Ensembl chr 2:86,784,610...86,808,396
JBrowse link
G CDC42 cell division cycle 42 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 1:22,052,709...22,101,360
Ensembl chr 1:22,052,627...22,101,360
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A EXP CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337
JBrowse link
G CLIC1 chloride intracellular channel 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 6:31,730,581...31,737,318
Ensembl chr 6:31,730,581...31,739,763
JBrowse link
G COPS6 COP9 signalosome subunit 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 7:100,088,969...100,092,187
Ensembl chr 7:100,088,969...100,092,187
JBrowse link
G CR2 complement C3d receptor 2 IEP protein:decreased expression:B cell RGD PMID:8442917 RGD:127338249 NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,453,024...207,489,895
JBrowse link
G CRP C-reactive protein disease_progression IDA RGD PMID:22448211 RGD:6482303 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 IAGP
EXP
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 NCBI chr 3:39,263,494...39,292,966
Ensembl chr 3:39,263,495...39,281,735
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 IEP protein:increased expression:plasma RGD PMID:27246604 RGD:14995461 NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497
JBrowse link
G CXCL12 C-X-C motif chemokine ligand 12 IAGP
EXP
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9430590 PMID:25741868 NCBI chr10:44,370,165...44,385,097
Ensembl chr10:44,370,165...44,386,493
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 IEP associated with pleural tuberculosis;
protein:increased expression:cerebrospinal fluid (human)
RGD PMID:21303360 PMID:31217522 RGD:36947878, RGD:150521549 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
JBrowse link
G CXCR1 C-X-C motif chemokine receptor 1 IAGP
EXP
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 NCBI chr 2:218,162,841...218,166,962
Ensembl chr 2:218,162,841...218,166,962
JBrowse link
G CYP2B6 cytochrome P450 family 2 subfamily B member 6 treatment IAGP DNA:haplotype: :CYP2B6*6(human)
DNA:SNPs: :516G>T,983T>C (human)
RGD PMID:21862974 PMID:18281305 RGD:11098366, RGD:11097175 NCBI chr19:40,991,282...41,018,398
Ensembl chr19:40,991,282...41,018,398
JBrowse link
G DDX1 DEAD-box helicase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24183723 NCBI chr 2:15,591,868...15,631,101
Ensembl chr 2:15,591,178...15,634,346
JBrowse link
G DDX3X DEAD-box helicase 3 X-linked EXP CTD Direct Evidence: marker/mechanism CTD PMID:24183723 NCBI chr  X:41,333,308...41,364,472
Ensembl chr  X:41,333,348...41,364,472
JBrowse link
G DNAJC7 DnaJ heat shock protein family (Hsp40) member C7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr17:41,976,435...42,017,439
Ensembl chr17:41,976,421...42,021,376
JBrowse link
G EIF3B eukaryotic translation initiation factor 3 subunit B EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 7:2,354,086...2,380,745
Ensembl chr 7:2,354,086...2,380,745
JBrowse link
G EIF4A1 eukaryotic translation initiation factor 4A1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr17:7,572,825...7,579,006
Ensembl chr17:7,572,824...7,579,006
JBrowse link
G EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 8:38,030,534...38,060,365
Ensembl chr 8:38,030,534...38,060,365
JBrowse link
G EIF6 eukaryotic translation initiation factor 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr20:35,278,906...35,284,772
Ensembl chr20:35,278,907...35,284,985
JBrowse link
G EMG1 EMG1 N1-specific pseudouridine methyltransferase EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr12:6,970,913...6,997,428
Ensembl chr12:6,970,913...6,979,936
JBrowse link
G EPHB2 EPH receptor B2 IEP mRNA:decreased expression:Anterior cingulate RGD PMID:23314923 RGD:127285026 NCBI chr 1:22,710,838...22,921,500
Ensembl chr 1:22,710,839...22,921,500
JBrowse link
G FAS Fas cell surface death receptor IDA RGD PMID:10200468 RGD:11049451 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
JBrowse link
G FCER2 Fc epsilon receptor II EXP CTD Direct Evidence: marker/mechanism CTD PMID:11500085 NCBI chr19:7,688,776...7,702,131
Ensembl chr19:7,688,758...7,702,146
JBrowse link
G FCGR3A Fc gamma receptor IIIa susceptibility IAGP DNA:polymorphism:exon:p.F158V(rs396991)(human) RGD PMID:21187939 RGD:5508390 NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,968
JBrowse link
G GADD45A growth arrest and DNA damage inducible alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 1:67,685,201...67,688,334
Ensembl chr 1:67,685,201...67,688,334
JBrowse link
G GC GC vitamin D binding protein disease_progression IAGP RGD PMID:2883392 RGD:5509934 NCBI chr 4:71,741,693...71,805,520
Ensembl chr 4:71,741,696...71,804,041
JBrowse link
G GRPEL1 GrpE like 1, mitochondrial EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 4:7,058,895...7,068,064
Ensembl chr 4:7,058,671...7,068,085
JBrowse link
G GTF3A general transcription factor IIIA EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr13:27,424,619...27,435,823
Ensembl chr13:27,424,619...27,435,823
JBrowse link
G HDGF heparin binding growth factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 1:156,742,107...156,767,366
Ensembl chr 1:156,742,109...156,766,925
JBrowse link
G HLA-B major histocompatibility complex, class I, B susceptibility EXP
IAGP
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:cds:HLA-DRB1*08, HLA-B*35, HLA-C*04 (human)
CTD
RGD
PMID:17496894 PMID:28244954 RGD:40903000 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
JBrowse link
G HLA-C major histocompatibility complex, class I, C susceptibility IAGP
EXP
ClinVar Annotator: match by term: HIV-1 viremia, susceptibility to
DNA:polymorphism:cds:HLA-DRB1*08, HLA-B*35, HLA-C*04 (human)
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:19935663 PMID:28244954 RGD:40903000 NCBI chr 6:31,268,749...31,272,092
Ensembl chr 6:31,268,749...31,272,130
JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 IAGP DNA:polymorphisms (human) RGD PMID:18427198 RGD:5147817 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 IAGP DNA:polymorphisms: :multiple (human)
DNA:polymorphisms (human)
RGD PMID:20345872 PMID:18427198 RGD:5147659, RGD:5147817 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
G HLA-DRA major histocompatibility complex, class II, DR alpha IEP RGD PMID:21427211 RGD:5490157 NCBI chr 6:32,439,887...32,445,046
Ensembl chr 6:32,439,878...32,445,046
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 disease_progression
susceptibility
IAGP DNA:polymorphism (human)
DNA:polymorphism:cds:HLA-DRB1*08, HLA-B*35, HLA-C*04 (human)
DNA:polymorphisms: :multiple (human)
RGD PMID:21257739 PMID:28244954 PMID:20345872 RGD:5147591, RGD:40903000, RGD:5147659 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 HSP90AA1 heat shock protein 90 alpha family class A member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr14:102,080,742...102,139,749
Ensembl chr14:102,080,742...102,139,699
JBrowse link
G HSP90AB1 heat shock protein 90 alpha family class B member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 6:44,246,194...44,253,883
Ensembl chr 6:44,246,166...44,253,888
JBrowse link
G HSPA9 heat shock protein family A (Hsp70) member 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 5:138,553,756...138,575,401
Ensembl chr 5:138,553,756...138,575,675
JBrowse link
G HSPB1 heat shock protein family B (small) member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 7:76,302,673...76,304,292
Ensembl chr 7:76,302,673...76,304,295
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737
JBrowse link
G HSPH1 heat shock protein family H (Hsp110) member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr13:31,134,973...31,162,388
Ensembl chr13:31,134,973...31,162,388
JBrowse link
G IFNG interferon gamma EXP
IAGP
CTD Direct Evidence: marker/mechanism CTD
OMIM
PMID:10202824 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IL10 interleukin 10 treatment IEP
IAGP
EXP
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:10202824 PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 More... RGD:7365087 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL15 interleukin 15 IEP protein:decreased expression:plasma RGD PMID:20028198 RGD:4892672 NCBI chr 4:141,636,583...141,733,987
Ensembl chr 4:141,636,583...141,733,987
JBrowse link
G IL17D interleukin 17D severity HEP Protein:increased expression:blood plasma (human) RGD PMID:28592538 RGD:40903074 NCBI chr13:20,701,513...20,723,098
Ensembl chr13:20,702,127...20,723,098
JBrowse link
G IL18 interleukin 18 treatment IEP associated with hepatitis C; protein:increased expression:serum: RGD PMID:27927859 PMID:27927859 RGD:14696653, RGD:14696653 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
JBrowse link
G IL19 interleukin 19 IAGP ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to ClinVar PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:25741868 More... NCBI chr 1:206,770,773...206,842,981
Ensembl chr 1:206,770,764...206,842,981
JBrowse link
G IL2 interleukin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
JBrowse link
G IL21 interleukin 21 IEP associated with hepatitis B;protein:decreased expression:blood serum (human) RGD PMID:22948268 RGD:127285366 NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066
JBrowse link
G IL21R interleukin 21 receptor IDA RGD PMID:22530560 RGD:6892924 NCBI chr16:27,402,174...27,452,042
Ensembl chr16:27,402,174...27,452,042
JBrowse link
G IL27 interleukin 27 ameliorates IEP protein:increased expression:blood plasma (human)
associated with hepatitis C;protein:increased expression:blood plasma (human)
RGD PMID:28338007 PMID:24816922 RGD:126790518, RGD:126790553 NCBI chr16:28,499,362...28,506,834
Ensembl chr16:28,499,362...28,512,051
JBrowse link
G IL2RA interleukin 2 receptor subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370
JBrowse link
G IL32 interleukin 32 IEP protein:increased expression:blood serum (human) RGD PMID:18329725 RGD:150340725 NCBI chr16:3,065,403...3,069,530
Ensembl chr16:3,065,297...3,082,192
JBrowse link
G IL4R interleukin 4 receptor IAGP ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to ClinVar PMID:25741868 PMID:28492532 NCBI chr16:27,313,756...27,364,778
Ensembl chr16:27,313,668...27,364,778
JBrowse link
G IL6 interleukin 6 IEP protein:increased expression:serum RGD PMID:1768380 RGD:10449449 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G ILF2 interleukin enhancer binding factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 1:153,661,788...153,670,993
Ensembl chr 1:153,661,788...153,671,028
JBrowse link
G IPO7 importin 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr11:9,384,652...9,448,127
Ensembl chr11:9,384,652...9,448,127
JBrowse link
G KIR3DL1 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 susceptibility EXP
IAGP
CTD Direct Evidence: marker/mechanism
DNA:deletion:cds
CTD
OMIM
RGD
PMID:17496894 PMID:31863692 RGD:38676444 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:31863692 RGD:38676444
G KMT2E lysine methyltransferase 2E (inactive) IEP protein:increased expression:peripheral blood, T cell, CD4+ (human) RGD PMID:16046540 RGD:9588555 NCBI chr 7:105,014,205...105,115,019
Ensembl chr 7:104,940,943...105,115,019
JBrowse link
G KPNB1 karyopherin subunit beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr17:47,649,919...47,685,505
Ensembl chr17:47,649,476...47,685,505
JBrowse link
G LCK LCK proto-oncogene, Src family tyrosine kinase ISO protein:increased tyrosine phosphorylation:T cell RGD PMID:16828835 RGD:1600221 NCBI chr 1:32,251,265...32,286,165
Ensembl chr 1:32,251,244...32,286,165
JBrowse link
G LEPR leptin receptor IEP protein:increased phosphorylation:peripheral blood mononuclear cell RGD PMID:12100031 RGD:21079471 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
JBrowse link
G LOC117307477 CD209 promoter region IAGP ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to ClinVar PMID:15564514 PMID:15838506 PMID:16379498 NCBI chr19:7,747,412...7,749,177 JBrowse link
G LOC128462409 CRISPRi-FlowFISH-validated IL10 regulatory element GRCh37_chr1:206945468-206946089 IAGP ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:206,772,123...206,772,744 JBrowse link
G LOC130063933 ATAC-STARR-seq lymphoblastoid active region 14268 IAGP ClinVar Annotator: match by term: Human immunodeficiency virus type 1, rapid progression to AIDS ClinVar NCBI chr19:17,405,662...17,406,041 JBrowse link
G LYN LYN proto-oncogene, Src family tyrosine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 8:55,879,835...56,014,169
Ensembl chr 8:55,879,835...56,014,169
JBrowse link
G MAP2 microtubule associated protein 2 ISO RGD PMID:19966940 RGD:6483319 NCBI chr 2:209,424,047...209,734,112
Ensembl chr 2:209,424,047...209,734,147
JBrowse link
G MAZ MYC associated zinc finger protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr16:29,806,124...29,811,164
Ensembl chr16:29,806,106...29,811,164
JBrowse link
G MBL2 mannose binding lectin 2 severity
no_association
IAGP
EXP
DNA:polymorphism:exon:
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16960176 PMID:19796822 PMID:26348711 RGD:12910857, RGD:12910931 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
JBrowse link
G MDM2 MDM2 proto-oncogene EXP CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,177...68,845,544
JBrowse link
G MKI67 marker of proliferation Ki-67 IDA RGD PMID:21576701 RGD:6483531 NCBI chr10:128,096,659...128,126,423
Ensembl chr10:128,096,659...128,126,423
JBrowse link
G MVB12A multivesicular body subunit 12A IAGP ClinVar Annotator: match by term: Human immunodeficiency virus type 1, rapid progression to AIDS ClinVar NCBI chr19:17,405,741...17,425,332
Ensembl chr19:17,405,722...17,433,724
JBrowse link
G MYH9 myosin heavy chain 9 ISO protein:decreased expression:glomerulus RGD PMID:22313957 RGD:6903274 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010
JBrowse link
G NEFL neurofilament light chain treatment IEP RGD PMID:30005007 RGD:127285390 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721
JBrowse link
G NEFM neurofilament medium chain IDA protein:increased serine/threonine phosphorylation:brain RGD PMID:26033855 RGD:40886309 NCBI chr 8:24,913,761...24,919,093
Ensembl chr 8:24,913,758...24,919,098
JBrowse link
G NUP88 nucleoporin 88 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr17:5,384,833...5,419,662
Ensembl chr17:5,359,668...5,420,164
JBrowse link
G NUTF2 nuclear transport factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr16:67,846,933...67,872,567
Ensembl chr16:67,846,882...67,872,567
JBrowse link
G ODC1 ornithine decarboxylase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 2:10,439,968...10,448,327
Ensembl chr 2:10,439,968...10,448,327
JBrowse link
G OGG1 8-oxoguanine DNA glycosylase EXP CTD Direct Evidence: marker/mechanism CTD PMID:29709520 NCBI chr 3:9,749,952...9,783,108
Ensembl chr 3:9,749,944...9,788,219
JBrowse link
G OPRM1 opioid receptor mu 1 ISO mRNA:increased expression:macrophage RGD PMID:17553897 RGD:2316609 NCBI chr 6:154,010,496...154,246,867
Ensembl chr 6:154,010,496...154,246,867
JBrowse link
G PDCD1 programmed cell death 1 IEP RGD PMID:30161254 RGD:41412179 NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894
JBrowse link
G PLA2G2A phospholipase A2 group IIA IAGP RGD PMID:18096355 RGD:6482728 NCBI chr 1:19,975,431...19,980,434
Ensembl chr 1:19,975,431...19,980,416
JBrowse link
G PLAUR plasminogen activator, urokinase receptor disease_progression IEP protein:increased expression:plasma RGD PMID:21384094 PMID:20229356 RGD:6484120, RGD:6484128 NCBI chr19:43,646,095...43,670,169
Ensembl chr19:43,646,095...43,670,547
JBrowse link
G PPIA peptidylprolyl isomerase A disease_progression IAGP DNA:SNPs:promotor, intron 1: 1604C>G, 2653A>C (rs8177826, rs3735481) (human) RGD PMID:17590083 RGD:150383341 NCBI chr 7:44,796,681...44,803,117
Ensembl chr 7:44,796,680...44,824,564
JBrowse link
G PPIB peptidylprolyl isomerase B EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr15:64,155,817...64,163,022
Ensembl chr15:64,155,740...64,163,134
JBrowse link
G PRF1 perforin 1 IEP
IAGP
DNA:SNP: :rs885822 (human) RGD PMID:20523897 PMID:21157294 RGD:6482808, RGD:6482819 NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759
JBrowse link
G PRPF8 pre-mRNA processing factor 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr17:1,650,629...1,684,867
Ensembl chr17:1,650,629...1,684,867
JBrowse link
G PSMA4 proteasome 20S subunit alpha 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr15:78,540,405...78,552,417
Ensembl chr15:78,540,405...78,552,417
JBrowse link
G PSMA5 proteasome 20S subunit alpha 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 1:109,399,042...109,426,448
Ensembl chr 1:109,399,042...109,426,448
JBrowse link
G PSMA6 proteasome 20S subunit alpha 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr14:35,278,558...35,317,493
Ensembl chr14:35,278,633...35,317,493
JBrowse link
G PSMB10 proteasome 20S subunit beta 10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr16:67,934,506...67,936,850
Ensembl chr16:67,934,506...67,936,864
JBrowse link
G PSMB4 proteasome 20S subunit beta 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 1:151,399,573...151,401,937
Ensembl chr 1:151,399,560...151,401,937
JBrowse link
G PSMC3 proteasome 26S subunit, ATPase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr11:47,418,775...47,426,439
Ensembl chr11:47,418,769...47,426,473
JBrowse link
G PSMC5 proteasome 26S subunit, ATPase 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr17:63,827,431...63,832,019
Ensembl chr17:63,827,152...63,832,026
JBrowse link
G PSMD13 proteasome 26S subunit, non-ATPase 13 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr11:236,976...252,984
Ensembl chr11:236,966...252,984
JBrowse link
G PSMD3 proteasome 26S subunit, non-ATPase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr17:39,980,807...39,997,959
Ensembl chr17:39,980,807...39,997,959
JBrowse link
G PSMD6 proteasome 26S subunit, non-ATPase 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 3:64,010,551...64,024,007
Ensembl chr 3:64,010,550...64,024,010
JBrowse link
G PSMD8 proteasome 26S subunit, non-ATPase 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr19:38,374,571...38,383,824
Ensembl chr19:38,374,563...38,383,850
JBrowse link
G PSME1 proteasome activator subunit 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr14:24,136,194...24,138,962
Ensembl chr14:24,136,163...24,138,967
JBrowse link
G PSME2 proteasome activator subunit 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr14:24,143,365...24,146,610
Ensembl chr14:24,143,362...24,147,570
JBrowse link
G PSME3 proteasome activator subunit 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr17:42,833,397...42,843,760
Ensembl chr17:42,824,385...42,843,760
JBrowse link
G PSME4 proteasome activator subunit 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 2:53,864,069...53,970,993
Ensembl chr 2:53,864,069...53,970,993
JBrowse link
G PTCH1 patched 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO mRNA, protein:increased expression:brain RGD PMID:21846384 RGD:5508195 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
JBrowse link
G RAB11B RAB11B, member RAS oncogene family EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr19:8,390,360...8,404,434
Ensembl chr19:8,389,981...8,404,434
JBrowse link
G RAB32 RAB32, member RAS oncogene family EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 6:146,543,833...146,554,953
Ensembl chr 6:146,543,833...146,554,953
JBrowse link
G RAN RAN, member RAS oncogene family EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr12:130,872,066...130,877,678
Ensembl chr12:130,872,037...130,877,678
JBrowse link
G RANBP1 RAN binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr22:20,116,104...20,127,355
Ensembl chr22:20,115,938...20,127,355
JBrowse link
G SELP selectin P IEP RGD PMID:22156911 RGD:6218986 NCBI chr 1:169,588,849...169,630,124
Ensembl chr 1:169,588,849...169,630,193
JBrowse link
G SERPINA1 serpin family A member 1 susceptibility EXP
IAGP
CTD Direct Evidence: therapeutic
DNA:polymorphism:cds:p.Glu264Val(human)
CTD
RGD
PMID:17448989 PMID:24122823 RGD:14695057 NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693
JBrowse link
G SF3A3 splicing factor 3a subunit 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 1:37,956,975...37,990,022
Ensembl chr 1:37,956,975...37,990,075
JBrowse link
G SFPQ splicing factor proline and glutamine rich EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 1:35,176,380...35,193,145
Ensembl chr 1:35,176,378...35,193,446
JBrowse link
G SIGMAR1 sigma non-opioid intracellular receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16204638 NCBI chr 9:34,634,722...34,637,787
Ensembl chr 9:34,634,722...34,637,844
JBrowse link
G SIRT1 sirtuin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19720090 NCBI chr10:67,884,656...67,918,390
Ensembl chr10:67,884,656...67,918,390
JBrowse link
G SLC11A1 solute carrier family 11 member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894
JBrowse link
G SNRPD3 small nuclear ribonucleoprotein D3 polypeptide EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr22:24,555,650...24,574,971
Ensembl chr22:24,555,958...24,582,052
JBrowse link
G SOCS1 suppressor of cytokine signaling 1 IEP mRNA:decreased expression:uterine cervix RGD PMID:16878360 RGD:2298904 NCBI chr16:11,254,417...11,256,204
Ensembl chr16:11,254,417...11,256,204
JBrowse link
G SOCS3 suppressor of cytokine signaling 3 IEP mRNA:decreased expression:uterine cervix RGD PMID:16878360 RGD:2298904 NCBI chr17:78,356,778...78,360,925
Ensembl chr17:78,356,778...78,360,077
JBrowse link
G SRF serum response factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 6:43,171,269...43,181,506
Ensembl chr 6:43,171,269...43,181,506
JBrowse link
G SRSF1 serine and arginine rich splicing factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr17:57,989,038...58,007,246
Ensembl chr17:58,000,919...58,007,346
JBrowse link
G SRSF9 serine and arginine rich splicing factor 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr12:120,461,672...120,469,748
Ensembl chr12:120,461,672...120,495,946
JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 IEP mRNA:increased expression:multiple tissues (human) RGD PMID:24367701 RGD:39128218 NCBI chr 5:139,475,533...139,482,758
Ensembl chr 5:139,475,533...139,482,935
JBrowse link
G TAF9 TATA-box binding protein associated factor 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 5:69,364,743...69,369,824
Ensembl chr 5:69,362,026...69,370,013
JBrowse link
G TLR3 toll like receptor 3 IAGP
EXP
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:17872438 PMID:19625408 PMID:20472559 PMID:20855885 PMID:21911422 More... NCBI chr 4:186,069,156...186,088,073
Ensembl chr 4:186,068,911...186,088,073
JBrowse link
G TNF tumor necrosis factor IEP protein:increased expression:serum RGD PMID:1768380 RGD:10449449 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:8811349 NCBI chr 1:12,063,303...12,144,207
Ensembl chr 1:12,063,303...12,144,207
JBrowse link
G TREM1 triggering receptor expressed on myeloid cells 1 IEP mRNA,protein:increased expression:peripheral blood mononuclear cell, macrophage, plasma RGD PMID:31260499 RGD:126925971 NCBI chr 6:41,267,385...41,286,682
Ensembl chr 6:41,267,926...41,286,682
JBrowse link
G TRIM5 tripartite motif containing 5 EXP CTD Direct Evidence: therapeutic CTD PMID:15249687 NCBI chr11:5,588,635...5,685,074
Ensembl chr11:5,663,195...5,938,619
JBrowse link
G U2AF1 U2 small nuclear RNA auxiliary factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr21:43,092,956...43,107,578
Ensembl chr21:43,092,956...43,107,570
JBrowse link
G VDR vitamin D receptor IAGP 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
G YY1 YY1 transcription factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788
JBrowse link
Immunodeficiency 107 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OTULIN OTU deubiquitinase with linear linkage specificity susceptibility IAGP ClinVar Annotator: match by term: Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection ClinVar
OMIM
PMID:25741868 PMID:27559085 PMID:28492532 PMID:35587511 NCBI chr 5:14,664,718...14,716,525
Ensembl chr 5:14,664,664...14,699,850
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 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
EXP
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
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
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:11590134 PMID:15229184 PMID:16950813 PMID:18222329 PMID:20529958 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
EXP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
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 67 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IRAK4 interleukin 1 receptor associated kinase 4 IAGP
EXP
ClinVar Annotator: match by term: Immunodeficiency 67
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Invasive pneumococcal disease, recurrent isolated
ClinVar
CTD
OMIM
PMID:9536098 PMID:9789052 PMID:12637671 PMID:12925671 PMID:15520784 More... NCBI chr12:43,758,951...43,789,541
Ensembl chr12:43,758,944...43,798,307
JBrowse link
G LOC130007712 ATAC-STARR-seq lymphoblastoid active region 6218 IAGP ClinVar Annotator: match by term: Immunodeficiency 67 ClinVar NCBI chr12:43,758,868...43,758,977 JBrowse link
G TIRAP TIR domain containing adaptor protein IAGP ClinVar Annotator: match by term: Invasive pneumococcal disease, protection against 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
Immunodeficiency 68 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVR2B activin A receptor type 2B IAGP ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY ClinVar PMID:28492532 NCBI chr 3:38,453,890...38,493,142
Ensembl chr 3:38,453,890...38,493,142
JBrowse link
G EXOG exo/endonuclease G IAGP ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY ClinVar PMID:28492532 NCBI chr 3:38,496,340...38,526,303
Ensembl chr 3:38,496,127...38,542,161
JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor IAGP
EXP
ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18669862 PMID:19506249 More... NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,552...38,143,024
JBrowse link
G OXSR1 oxidative stress responsive kinase 1 IAGP ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY ClinVar PMID:28492532 NCBI chr 3:38,164,063...38,255,484
Ensembl chr 3:38,165,089...38,255,484
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY ClinVar PMID:28492532 NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743
JBrowse link
G SLC22A13 solute carrier family 22 member 13 IAGP ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY ClinVar PMID:28492532 NCBI chr 3:38,265,812...38,278,757
Ensembl chr 3:38,265,812...38,278,757
JBrowse link
G SLC22A14 solute carrier family 22 member 14 IAGP ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY ClinVar PMID:28492532 NCBI chr 3:38,278,832...38,318,575
Ensembl chr 3:38,282,294...38,318,575
JBrowse link
G XYLB xylulokinase IAGP ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY ClinVar PMID:28492532 NCBI chr 3:38,346,785...38,453,041
Ensembl chr 3:38,346,760...38,421,348
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
infective endocarditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TLR6 toll like receptor 6 susceptibility IAGP DNA:SNP:cds:rs3775073(1263A>G)(p.Lys421Lys)(human) RGD PMID:25213166 RGD:127229900 NCBI chr 4:38,822,897...38,868,390
Ensembl chr 4:38,822,897...38,856,817
JBrowse link
inhalation anthrax term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXCL10 C-X-C motif chemokine ligand 10 disease_progression ISO RGD PMID:21124994 RGD:5135283 NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497
JBrowse link
G CXCL11 C-X-C motif chemokine ligand 11 disease_progression ISO RGD PMID:21124994 RGD:5135283 NCBI chr 4:76,033,682...76,036,070
Ensembl chr 4:76,033,682...76,041,415
JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 disease_progression ISO RGD PMID:21124994 RGD:5135283 NCBI chr 4:76,001,275...76,007,509
Ensembl chr 4:76,001,275...76,007,509
JBrowse link
Klebsiella Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOE apolipoprotein E severity ISO RGD PMID:10998083 RGD:11039489 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G IL6 interleukin 6 treatment ISO RGD PMID:8432613 RGD:11062093 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G TLR9 toll like receptor 9 ISO RGD PMID:17785831 RGD:5130866 NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
JBrowse link
Klebsiella pneumonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXCL8 C-X-C motif chemokine ligand 8 ISO RGD PMID:11207292 RGD:38549344 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
JBrowse link
G IL23A interleukin 23 subunit alpha severity ISO RGD PMID:16157683 RGD:39457940 NCBI chr12:56,338,884...56,340,410
Ensembl chr12:56,334,174...56,340,410
JBrowse link
G IRAK3 interleukin 1 receptor associated kinase 3 severity ISO mRNA:increased expression:lung (mouse) RGD PMID:22729155 PMID:20864681 RGD:35316077, RGD:36049798 NCBI chr12:66,189,214...66,254,622
Ensembl chr12:66,189,195...66,254,622
JBrowse link
G LCN2 lipocalin 2 exacerbates
ameliorates
ISO protein:increased expression:lung
protein:increased expression:serum
RGD PMID:29633303 PMID:19342674 PMID:19342674 PMID:19342674 PMID:25234944 More... RGD:126725082, RGD:126725085, RGD:126725085, RGD:126725085, RGD:126725084, RGD:126725084 NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453
JBrowse link
G PLAC8 placenta associated 8 severity ISO RGD PMID:17404296 RGD:40924563 NCBI chr 4:83,090,048...83,114,729
Ensembl chr 4:83,090,048...83,137,075
JBrowse link
G TREM1 triggering receptor expressed on myeloid cells 1 disease_progression ISO RGD PMID:24396044 RGD:126925976 NCBI chr 6:41,267,385...41,286,682
Ensembl chr 6:41,267,926...41,286,682
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
Legionnaires' disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA adenosine deaminase IEP protein:increased expression:serum RGD PMID:9255891 RGD:5128857 NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252
JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO RGD PMID:16113250 RGD:4891897 NCBI chr16:57,372,490...57,385,044
Ensembl chr16:57,372,477...57,385,044
JBrowse link
G CXCL1 C-X-C motif chemokine ligand 1 ISO mRNA, protein:increased expression:lung RGD PMID:11254553 RGD:5135252 NCBI chr 4:73,869,393...73,871,308
Ensembl chr 4:73,869,393...73,871,308
JBrowse link
G CXCL2 C-X-C motif chemokine ligand 2 ISO mRNA, protein:increased expression:lung RGD PMID:11254553 RGD:5135252 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 ISO mRNA, protein:increased expression:lung RGD PMID:11254553 RGD:5135252 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 ISO mRNA, protein:increased expression:lung RGD PMID:11254553 RGD:5135252 NCBI chr 4:73,836,678...73,838,760
Ensembl chr 4:73,836,640...73,849,064
JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 ISO RGD PMID:11254553 RGD:5135252 NCBI chr 2:218,125,294...218,137,251
Ensembl chr 2:218,125,289...218,137,251
JBrowse link
G IFNG interferon gamma EXP CTD Direct Evidence: therapeutic CTD PMID:11349020 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IL18 interleukin 18 ISO RGD PMID:11083766 RGD:4889865 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
JBrowse link
G MBL2 mannose binding lectin 2 susceptibility IEP RGD PMID:19073229 RGD:12910934 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
JBrowse link
G NOD1 nucleotide binding oligomerization domain containing 1 ISO RGD PMID:20685341 RGD:5131443 NCBI chr 7:30,424,527...30,478,784
Ensembl chr 7:30,424,527...30,478,784
JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 ISO RGD PMID:20685341 RGD:5131443 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
JBrowse link
G TLR5 toll like receptor 5 susceptibility IAGP
EXP
ISO
DNA:nonsense mutation:cds:p.R392X (human)
ClinVar Annotator: match by term: Legionnaire disease, susceptibility to
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:14623910 PMID:16027372 PMID:23447684 PMID:25741868 PMID:14623910 More... RGD:5129477, RGD:5129510 NCBI chr 1:223,109,404...223,143,248
Ensembl chr 1:223,109,404...223,143,292
JBrowse link
G TLR9 toll like receptor 9 ISO RGD PMID:18426877 RGD:5130707 NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO RGD PMID:18838275 RGD:5131445 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO RGD PMID:18838275 RGD:5131445 NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
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
leptospirosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACHE acetylcholinesterase (Yt blood group) ISO RGD PMID:21921108 RGD:5688128 NCBI chr 7:100,889,994...100,896,994
Ensembl chr 7:100,889,994...100,896,974
JBrowse link
G ADA adenosine deaminase ISO RGD PMID:21320715 RGD:5128858 NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252
JBrowse link
G BCHE butyrylcholinesterase ISO protein:increased expression:serum RGD PMID:21921108 RGD:5688128 NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462
JBrowse link
G F2 coagulation factor II, thrombin severity IEP protein:increased expression:blood plasma (human) RGD PMID:18171258 PMID:20002620 RGD:40818429, RGD:40819859 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
JBrowse link
G IL1B interleukin 1 beta ISO mRNA, protein:increased expression:kidney (mouse) RGD PMID:22323544 RGD:7175257 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G MBL2 mannose binding lectin 2 severity IEP protein:increased expression:serum RGD PMID:19330263 RGD:6903260 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
JBrowse link
G TLR2 toll like receptor 2 ISO RGD PMID:19635914 RGD:7240557 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:19635914 PMID:16428731 RGD:7240557, RGD:7241090 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
listeriosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTK Bruton tyrosine kinase ameliorates ISO RGD PMID:23544144 RGD:124713555 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796
JBrowse link
G CD8A CD8 subunit alpha disease_progression
exacerbates
ISO protein:increased expression:liver (mouse)
protein:decreased expression:spleen, liver (mouse)
RGD PMID:20348006 PMID:2120126 RGD:124715456, RGD:124715458 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 severity ISO RGD PMID:17911624 RGD:40903039 NCBI chr20:50,190,583...50,192,690
Ensembl chr20:50,190,830...50,192,668
JBrowse link
G CYLD CYLD lysine 63 deubiquitinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:23825949 NCBI chr16:50,742,086...50,801,935
Ensembl chr16:50,742,050...50,801,935
JBrowse link
G IL15 interleukin 15 ISO protein:increased expression:epithelial cell, intestine RGD PMID:9826341 RGD:1626618 NCBI chr 4:141,636,583...141,733,987
Ensembl chr 4:141,636,583...141,733,987
JBrowse link
G IL17D interleukin 17D severity ISO RGD PMID:31244826 RGD:40903065 NCBI chr13:20,701,513...20,723,098
Ensembl chr13:20,702,127...20,723,098
JBrowse link
G IL1RN interleukin 1 receptor antagonist susceptibility IDA RGD PMID:8855299 RGD:11522760 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 RGD PMID:19923464 PMID:22966045 RGD:39457955, RGD:39457958 NCBI chr12:56,338,884...56,340,410
Ensembl chr12:56,334,174...56,340,410
JBrowse link
G IL33 interleukin 33 treatment ISO RGD PMID:25577440 RGD:40400693 NCBI chr 9:6,215,149...6,257,983
Ensembl chr 9:6,215,786...6,257,983
JBrowse link
G MIR146A microRNA 146a ameliorates ISO RGD PMID:29587465 PMID:29728425 RGD:126925140, RGD:126925176 NCBI chr 5:160,485,352...160,485,450
Ensembl chr 5:160,485,352...160,485,450
JBrowse link
G MIR21 microRNA 21 exacerbates ISO RGD PMID:28589100 RGD:41404664 NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
JBrowse link
G MT1X metallothionein 1X ISO CTD Direct Evidence: marker/mechanism CTD PMID:19576872 NCBI chr16:56,682,470...56,684,196
Ensembl chr16:56,682,470...56,684,196
JBrowse link
G MT2A metallothionein 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19576872 NCBI chr16:56,608,584...56,609,497
Ensembl chr16:56,608,584...56,609,497
JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta ISO RGD PMID:26311905 RGD:40890274 NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114
JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 exacerbates ISO RGD PMID:30975711 RGD:127229912 NCBI chr14:24,336,025...24,339,991
Ensembl chr14:24,336,025...24,340,022
JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 ISO RGD PMID:23378430 PMID:21098106 RGD:39128219, RGD:39128233 NCBI chr 5:139,475,533...139,482,758
Ensembl chr 5:139,475,533...139,482,935
JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:16751399 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFSF8 TNF superfamily member 8 EXP CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16177108 PMID:21699557 NCBI chr 9:114,893,343...114,930,595
Ensembl chr 9:114,893,343...114,930,595
JBrowse link
Lyme disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL20 C-C motif chemokine ligand 20 IEP protein:increased expression:synovial fluid RGD PMID:23371320 RGD:7488895 NCBI chr 2:227,813,842...227,817,556
Ensembl chr 2:227,805,739...227,817,564
JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 severity ISO RGD PMID:12847259 RGD:7257681 NCBI chr 2:218,125,294...218,137,251
Ensembl chr 2:218,125,289...218,137,251
JBrowse link
G MIR146A microRNA 146a exacerbates ISO RGD PMID:24967703 RGD:126925141 NCBI chr 5:160,485,352...160,485,450
Ensembl chr 5:160,485,352...160,485,450
JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 ISO RGD PMID:21387014 RGD:5508754 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
JBrowse link
G PLAUR plasminogen activator, urokinase receptor ISO
IEP
mRNA:increased expression:skin RGD PMID:19461880 PMID:19461880 RGD:6483813, RGD:6483813 NCBI chr19:43,646,095...43,670,169
Ensembl chr19:43,646,095...43,670,547
JBrowse link
Lyme Neuroborreliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL2 C-C motif chemokine ligand 2 IEP protein:increased expression:serum (human) RGD PMID:16358960 RGD:11528571 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
JBrowse link
G CD40 CD40 molecule IEP protein:increased expression:cerebrospinal fluid (human) RGD PMID:16463218 RGD:11352252 NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
JBrowse link
G CD40LG CD40 ligand IEP protein:increased expression:cerebrospinal fluid (human) RGD PMID:16463218 RGD:11352252 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 treatment IEP RGD PMID:24239846 RGD:39939054 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
JBrowse link
G IL1B interleukin 1 beta ISO RGD PMID:23134838 RGD:7193053 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
Majeed Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EMILIN2 elastin microfibril interfacer 2 IAGP ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:15994876 PMID:23087183 PMID:28492532 NCBI chr18:2,846,232...2,916,003
Ensembl chr18:2,847,006...2,916,003
JBrowse link
G LOC130062090 ATAC-STARR-seq lymphoblastoid active region 13029 IAGP ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr18:2,957,039...2,957,098 JBrowse link
G LOC130062091 ATAC-STARR-seq lymphoblastoid active region 13030 IAGP ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr18:2,957,974...2,958,133 JBrowse link
G LOC130062092 ATAC-STARR-seq lymphoblastoid active region 13031 IAGP ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr18:2,960,318...2,960,417 JBrowse link
G LPIN2 lipin 2 IAGP
EXP
ClinVar Annotator: match by term: Majeed syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2809904 PMID:9536098 PMID:10969284 PMID:11795677 PMID:15994876 More... NCBI chr18:2,916,994...3,013,144
Ensembl chr18:2,885,296...3,013,144
JBrowse link
G MYL12A myosin light chain 12A IAGP ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr18:3,247,482...3,256,237
Ensembl chr18:3,247,481...3,256,236
JBrowse link
G MYL12B myosin light chain 12B IAGP ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr18:3,262,133...3,278,461
Ensembl chr18:3,261,479...3,278,461
JBrowse link
G MYOM1 myomesin 1 IAGP ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr18:3,066,807...3,247,376
Ensembl chr18:3,066,807...3,219,968
JBrowse link
G SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 IAGP ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:15994876 PMID:23087183 PMID:28492532 NCBI chr18:2,655,726...2,805,017
Ensembl chr18:2,655,726...2,805,017
JBrowse link
G TGIF1 TGFB induced factor homeobox 1 IAGP ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978
JBrowse link
mastoiditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRP C-reactive protein disease_progression IEP RGD PMID:22578647 RGD:9491592 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit IEP protein:increased expression:mucosa of middle ear,skin of ear canal: RGD PMID:24690988 RGD:8552995 NCBI chr11:65,653,601...65,663,857
Ensembl chr11:65,653,599...65,663,090
JBrowse link
G TLR2 toll like receptor 2 IEP protein:increased expression:mucosa of middle ear,skin of ear canal: RGD PMID:24690988 RGD:8552995 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 IEP protein:increased expression:mucosa of middle ear,skin of ear canal: RGD PMID:24690988 RGD:8552995 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
melioidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFNA1 interferon alpha 1 IEP mRNA:increased expression:PBMC RGD PMID:28435890 RGD:36174031 NCBI chr 9:21,440,439...21,441,316
Ensembl chr 9:21,440,439...21,441,316
JBrowse link
G IRAK3 interleukin 1 receptor associated kinase 3 IEP mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:19114913 RGD:36049801 NCBI chr12:66,189,214...66,254,622
Ensembl chr12:66,189,195...66,254,622
JBrowse link
G PLAUR plasminogen activator, urokinase receptor IEP mRNA, protein:increased expression:blood, granulocyte, monocyte RGD PMID:20142364 RGD:6484129 NCBI chr19:43,646,095...43,670,169
Ensembl chr19:43,646,095...43,670,547
JBrowse link
G SERPINF1 serpin family F member 1 severity IEP
ISO
protein:increased expression:plasma (human) RGD PMID:23992406 PMID:25370187 PMID:23992406 RGD:36174010, RGD:36174011, RGD:36174010 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
JBrowse link
G TLR5 toll like receptor 5 susceptibility IEP
IAGP
EXP
mRNA:increased expression:blood, monocyte, granulocyte (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Melioidosis, resistance to
OMIM
CTD
ClinVar
RGD
PMID:14623910 PMID:16027372 PMID:23447684 PMID:17676990 RGD:5129511 NCBI chr 1:223,109,404...223,143,248
Ensembl chr 1:223,109,404...223,143,292
JBrowse link
G TREM1 triggering receptor expressed on myeloid cells 1 severity
treatment
IEP
ISO
RGD PMID:18008257 PMID:18008257 PMID:18008257 RGD:126928120, RGD:126928120, RGD:126928120 NCBI chr 6:41,267,385...41,286,682
Ensembl chr 6:41,267,926...41,286,682
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
Meningococcal Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme EXP CTD Direct Evidence: marker/mechanism CTD PMID:11956052 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G ADD1 adducin 1 IAGP DNA:missense mutation:cds:p.G460W (human) RGD PMID:18679149 RGD:5147999 NCBI chr 4:2,843,844...2,930,062
Ensembl chr 4:2,843,844...2,930,076
JBrowse link
G C3 complement C3 severity IEP RGD PMID:3491693 RGD:11041157 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
JBrowse link
G CFB complement factor B severity IEP RGD PMID:3491693 RGD:11041157 NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086
JBrowse link
G CFD complement factor D EXP CTD Direct Evidence: marker/mechanism CTD PMID:16527897 NCBI chr19:859,664...863,641
Ensembl chr19:859,453...867,884
JBrowse link
G CFH complement factor H treatment
exacerbates
IDA
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:20694013 PMID:25143339 PMID:19047406 RGD:11041174, RGD:108019051 NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476
JBrowse link
G CFHR3 complement factor H related 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20694013 NCBI chr 1:196,774,840...196,795,407
Ensembl chr 1:196,774,813...196,795,407
JBrowse link
G CPB2 carboxypeptidase B2 IAGP RGD PMID:14717966 RGD:1598478 NCBI chr13:46,053,186...46,105,033
Ensembl chr13:46,053,186...46,105,033
JBrowse link
G FCGR2A Fc gamma receptor IIa severity IAGP associated with complement deficiency;DNA:missense mutation:cds:p.H131R (human)
DNA:polymorphism:cds:p.H131R (human)
RGD PMID:10792385 PMID:11812402 RGD:5147980, RGD:11040998 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013
JBrowse link
G IL4 interleukin 4 susceptibility IAGP DNA:SNP:promoter:-524C>T(human) RGD PMID:20016407 RGD:14696700 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
JBrowse link
meningococcal meningitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C9 complement C9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9570574 NCBI chr 5:39,284,140...39,364,495
Ensembl chr 5:39,284,140...39,371,324
JBrowse link
G CD46 CD46 molecule IMP RGD PMID:12869763 RGD:6483466 NCBI chr 1:207,752,038...207,795,516
Ensembl chr 1:207,752,037...207,795,513
JBrowse link
G CFP complement factor properdin EXP CTD Direct Evidence: marker/mechanism CTD PMID:8530058 PMID:10909851 NCBI chr  X:47,623,282...47,630,305
Ensembl chr  X:47,623,172...47,630,305
JBrowse link
G MARCO macrophage receptor with collagenous structure ISO protein:increased expression:sub-cortical, meninges, astrocyte RGD PMID:21299846 RGD:41412190 NCBI chr 2:118,942,194...118,994,660
Ensembl chr 2:118,942,194...118,994,660
JBrowse link
G MMP13 matrix metallopeptidase 13 ISO RGD PMID:10430840 RGD:8547971 NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:10430840 RGD:8547971 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 susceptibility IAGP DNA:SNP,haplotype: :SNP8(human) RGD PMID:23691182 RGD:7800668 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
JBrowse link
G SLC11A1 solute carrier family 11 member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894
JBrowse link
G TLR2 toll like receptor 2 susceptibility IAGP DNA:haplotype: :2477G>A(rs5743708)(human) RGD PMID:23691182 RGD:7800668 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 IAGP DNA:SNP,haplotype: :896A>G(rs4986790)(human) RGD PMID:23691182 RGD:7800668 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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
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
Mycoplasma Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASP3 caspase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20179380 NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,650,062
JBrowse link
G CCR5 C-C motif chemokine receptor 5 IAGP DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) RGD PMID:17445875 RGD:4892129 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
JBrowse link
G CDH1 cadherin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20179380 NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:17217365 RGD:1642046 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G NOS2 nitric oxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20179380 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
JBrowse link
Mycoplasma pneumoniae pneumonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA adenosine deaminase IEP protein:increased expression:serum RGD PMID:9255891 RGD:5128857 NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252
JBrowse link
G ATP1B2 ATPase Na+/K+ transporting subunit beta 2 severity HEP RGD PMID:28302172 RGD:32716376 NCBI chr17:7,646,627...7,657,770
Ensembl chr17:7,646,627...7,657,770
JBrowse link
G CCL4 C-C motif chemokine ligand 4 ISO RGD PMID:16988274 RGD:4892091 NCBI chr17:36,103,827...36,105,614
Ensembl chr17:36,103,827...36,105,621
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO protein:increased secretion:lung, secretion (mouse) RGD PMID:18717637 RGD:4891914 NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
JBrowse link
G CCL8 C-C motif chemokine ligand 8 ISO RGD PMID:16988274 RGD:4892091 NCBI chr17:34,319,435...34,321,402
Ensembl chr17:34,319,435...34,321,402
JBrowse link
G CCR5 C-C motif chemokine receptor 5 ISO protein:increased expression:lung, T-helper cell (mouse) RGD PMID:16988274 RGD:4892091 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
JBrowse link
G CLEC5A C-type lectin domain containing 5A severity HEP RGD PMID:28302172 RGD:32716376 NCBI chr 7:141,927,357...141,946,974
Ensembl chr 7:141,927,357...141,947,007
JBrowse link
G COL3A1 collagen type III alpha 1 chain severity HEP RGD PMID:28302172 RGD:32716376 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
JBrowse link
G COL6A1 collagen type VI alpha 1 chain severity HEP RGD PMID:28302172 RGD:32716376 NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050
JBrowse link
G COL6A2 collagen type VI alpha 2 chain severity HEP RGD PMID:28302172 RGD:32716376 NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848
JBrowse link
G CRP C-reactive protein IEP RGD PMID:21426633 RGD:5131292 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G DNASE1L3 deoxyribonuclease 1L3 severity HEP RGD PMID:28302172 RGD:32716376 NCBI chr 3:58,192,257...58,210,972
Ensembl chr 3:58,192,257...58,214,697
JBrowse link
G FCER2 Fc epsilon receptor II severity HEP RGD PMID:28302172 RGD:32716376 NCBI chr19:7,688,776...7,702,131
Ensembl chr19:7,688,758...7,702,146
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 severity HEP RGD PMID:28302172 RGD:32716376 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145
JBrowse link
G GALC galactosylceramidase IEP
ISO
associated with Guillain-Barre syndrome; protein:increased expression:serum (human)
associated with Guillain-Barre syndrome; protein:increased expression:Cerebrospinal fluid, serum (human)
protein:increased expression:serum (mouse)
RGD PMID:27490360 PMID:29301655 PMID:30396892 PMID:30396892 PMID:12225900 RGD:38599168, RGD:38599172, RGD:38599171, RGD:38599171, RGD:38599169 NCBI chr14:87,933,014...87,993,667
Ensembl chr14:87,837,820...87,993,665
JBrowse link
G HDC histidine decarboxylase ISO RGD PMID:17158962 RGD:5143920 NCBI chr15:50,241,947...50,265,726
Ensembl chr15:50,241,947...50,265,965
JBrowse link
G HTRA3 HtrA serine peptidase 3 severity HEP RGD PMID:28302172 RGD:32716376 NCBI chr 4:8,269,754...8,307,098
Ensembl chr 4:8,269,754...8,307,098
JBrowse link
G IFNG interferon gamma ISO mRNA:increased expression:lung: RGD PMID:7935058 RGD:10755754 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IL13 interleukin 13 IEP protein:increased expression:serum RGD PMID:20416219 RGD:4145765 NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
JBrowse link
G IL22RA2 interleukin 22 receptor subunit alpha 2 severity HEP RGD PMID:28302172 RGD:32716376 NCBI chr 6:137,143,820...137,173,644
Ensembl chr 6:137,143,820...137,173,648
JBrowse link
G INHBA inhibin subunit beta A severity HEP RGD PMID:28302172 RGD:32716376 NCBI chr 7:41,685,114...41,705,406
Ensembl chr 7:41,667,168...41,705,834
JBrowse link
G KLRF1 killer cell lectin like receptor F1 severity HEP RGD PMID:28302172 RGD:32716376 NCBI chr12:9,800,052...9,845,005
Ensembl chr12:9,827,481...9,845,007
JBrowse link
G MS4A1 membrane spanning 4-domains A1 severity HEP RGD PMID:28302172 RGD:32716376 NCBI chr11:60,455,847...60,470,752
Ensembl chr11:60,455,846...60,470,752
JBrowse link
G PLD4 phospholipase D family member 4 severity HEP RGD PMID:28302172 RGD:32716376 NCBI chr14:104,924,879...104,937,785
Ensembl chr14:104,924,713...104,937,761
JBrowse link
G SPIB Spi-B transcription factor severity HEP RGD PMID:28302172 RGD:32716376 NCBI chr19:50,418,938...50,431,314
Ensembl chr19:50,418,938...50,431,314
JBrowse link
G TCF7 transcription factor 7 severity HEP RGD PMID:28302172 RGD:32716376 NCBI chr 5:134,108,218...134,148,210
Ensembl chr 5:134,114,681...134,151,865
JBrowse link
G TCL1A TCL1 family AKT coactivator A severity HEP RGD PMID:28302172 RGD:32716376 NCBI chr14:95,709,947...95,714,125
Ensembl chr14:95,709,947...95,714,196
JBrowse link
G TNF tumor necrosis factor IEP protein:increased expression:serum RGD PMID:20416219 RGD:4145765 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFRSF13C TNF receptor superfamily member 13C severity HEP RGD PMID:28302172 RGD:32716376 NCBI chr22:41,922,032...41,926,806
Ensembl chr22:41,922,032...41,926,806
JBrowse link
Neisseriaceae Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C8A complement C8 alpha chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:9759902 NCBI chr 1:56,854,797...56,918,223
Ensembl chr 1:56,854,768...56,918,223
JBrowse link
G CD40 CD40 molecule IEP RGD PMID:19202131 RGD:5132273 NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
JBrowse link
G CFD complement factor D EXP CTD Direct Evidence: marker/mechanism CTD PMID:11457876 NCBI chr19:859,664...863,641
Ensembl chr19:859,453...867,884
JBrowse link
Neurosyphilis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXCL8 C-X-C motif chemokine ligand 8 treatment IEP RGD PMID:27650493 RGD:39939071 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
JBrowse link
G NEFL neurofilament light chain disease_progression IEP protein:increased expression:CSF (human) RGD PMID:32117023 RGD:127285386 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721
JBrowse link
G TREM2 triggering receptor expressed on myeloid cells 2 disease_progression IEP protein:increased expression:CSF (human) RGD PMID:32117023 RGD:127285386 NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,506...41,163,186
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
osteomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP associated with Anemia, Sickle Cell;DNA:polymorphisms, haplotypes:cds:HLA-DQB1*050101, HLA-DQB1*0201, HLA-DQB1*0302 (human) RGD PMID:18312480 RGD:11041747 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
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
Pasteurellaceae Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CP ceruloplasmin EXP CTD Direct Evidence: marker/mechanism CTD PMID:16755360 NCBI chr 3:149,162,414...149,221,829
Ensembl chr 3:149,162,410...149,221,829
JBrowse link
G CRP C-reactive protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:16755360 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G HP haptoglobin EXP CTD Direct Evidence: marker/mechanism CTD PMID:16755360 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
JBrowse link
pasteurellosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HP haptoglobin ISO RGD PMID:21388634 RGD:5144216 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
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
pelvic inflammatory disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRP C-reactive protein IEP protein:increased expression:plasma (human) RGD PMID:21679133 RGD:38508897 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G IL4 interleukin 4 treatment ISO RGD PMID:24589604 RGD:10402794 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
JBrowse link
G PTX3 pentraxin 3 IEP protein:increased expression:plasma (human) RGD PMID:21679133 RGD:38508897 NCBI chr 3:157,436,850...157,443,633
Ensembl chr 3:157,436,850...157,443,633
JBrowse link
plague term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCR5 C-C motif chemokine receptor 5 resistance ISO DNA:polymorphism:cds:p.H184R (rat) RGD PMID:18703167 RGD:4890425 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
JBrowse link
G CXCL1 C-X-C motif chemokine ligand 1 ISO RGD PMID:21356370 RGD:5134954 NCBI chr 4:73,869,393...73,871,308
Ensembl chr 4:73,869,393...73,871,308
JBrowse link
G ERAP2 endoplasmic reticulum aminopeptidase 2 EXP CTD Direct Evidence: therapeutic CTD PMID:36261521 NCBI chr 5:96,875,939...96,919,716
Ensembl chr 5:96,875,986...96,919,703
JBrowse link
G FPR1 formyl peptide receptor 1 IAGP ClinVar Annotator: match by term: N-FORMYLPEPTIDE RECEPTOR POLYMORPHISM ClinVar PMID:28492532 PMID:31534221 NCBI chr19:51,745,172...51,751,878
Ensembl chr19:51,745,172...51,804,115
JBrowse link
G IL17A interleukin 17A ISO mRNA,protein:increased expression:lymph node RGD PMID:20876291 RGD:4781452 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
JBrowse link
G IL1B interleukin 1 beta ISO RGD PMID:20565713 RGD:4142820 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G MAVS mitochondrial antiviral signaling protein susceptibility ISO RGD PMID:25064677 RGD:40903046 NCBI chr20:3,846,834...3,876,118
Ensembl chr20:3,846,799...3,876,123
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
Pneumococcal Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFH complement factor H exacerbates ISO
IDA
RGD PMID:26802141 PMID:26802141 RGD:108019050, RGD:108019050 NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476
JBrowse link
G IL17A interleukin 17A susceptibility IAGP associated with Bronchiolitis;DNA:SNP:promoter:rs2275913 (human) RGD PMID:20437253 RGD:4889139 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
JBrowse link
G IL27 interleukin 27 ISO associated with influenza A;protein:increased expression:lung (mouse) RGD PMID:24408967 RGD:11556418 NCBI chr16:28,499,362...28,506,834
Ensembl chr16:28,499,362...28,512,051
JBrowse link
G NFKBIA NFKB inhibitor alpha susceptibility IAGP DNA:SNPs:enhancers: (rs3138053, rs2233406) (human)
DNA:SNP: :(rs1050851) (human)
RGD PMID:17463416 PMID:29407193 RGD:127285388, RGD:127285391 NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749
JBrowse link
G TIRAP TIR domain containing adaptor protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:17322885 NCBI chr11:126,283,093...126,294,933
Ensembl chr11:126,282,497...126,298,845
JBrowse link
G TLR9 toll like receptor 9 ISO RGD PMID:17004992 RGD:5130710 NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
JBrowse link
Pneumococcal Meningitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM17 ADAM metallopeptidase domain 17 treatment ISO RGD PMID:24491581 RGD:13703038 NCBI chr 2:9,488,486...9,555,830
Ensembl chr 2:9,488,486...9,556,732
JBrowse link
G AQP4 aquaporin 4 treatment ISO protein:increased expression:brain: RGD PMID:15695511 PMID:15695511 RGD:8698660, RGD:8698660 NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771
JBrowse link
G ATM ATM serine/threonine kinase ameliorates ISO RGD PMID:15529270 RGD:126781748 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
JBrowse link
G CAMP cathelicidin antimicrobial peptide ISO protein:increased expression:brain, coronal section (rat) RGD PMID:19879657 RGD:2316237 NCBI chr 3:48,223,495...48,225,485
Ensembl chr 3:48,223,347...48,225,491
JBrowse link
G CXCL1 C-X-C motif chemokine ligand 1 ISO RGD PMID:21109308 RGD:5134982 NCBI chr 4:73,869,393...73,871,308
Ensembl chr 4:73,869,393...73,871,308
JBrowse link
G CYSLTR1 cysteinyl leukotriene receptor 1 disease_progression ISO mRNA, protein:increased expression:brain (rat) RGD PMID:31933824 RGD:40903068 NCBI chr  X:78,271,468...78,327,611
Ensembl chr  X:78,271,468...78,327,691
JBrowse link
G CYSLTR2 cysteinyl leukotriene receptor 2 ISO mRNA, protein:increased expression:brain (rat) RGD PMID:31933824 RGD:40903068 NCBI chr13:48,653,929...48,711,226
Ensembl chr13:48,653,711...48,711,226
JBrowse link
G IDO1 indoleamine 2,3-dioxygenase 1 treatment ISO RGD PMID:24844751 RGD:39939118 NCBI chr 8:39,913,891...39,928,790
Ensembl chr 8:39,902,275...39,928,790
JBrowse link
G IL6 interleukin 6 treatment ISO protein:increased expression:brain RGD PMID:25443778 PMID:8943431 PMID:11581077 RGD:9831197, RGD:11062107, RGD:11060264 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G LGALS3 galectin 3 ISO mRNA, protein:increased expression:brain RGD PMID:17706429 RGD:9685206 NCBI chr14:55,129,252...55,145,430
Ensembl chr14:55,124,110...55,145,423
JBrowse link
G LGALS9 galectin 9 ISO RGD PMID:17706429 RGD:9685206 NCBI chr17:27,631,188...27,649,560
Ensembl chr17:27,629,798...27,649,560
JBrowse link
G MARCO macrophage receptor with collagenous structure ISO protein:increased expression:meninges, astrocyte RGD PMID:21299846 RGD:41412190 NCBI chr 2:118,942,194...118,994,660
Ensembl chr 2:118,942,194...118,994,660
JBrowse link
G MMP2 matrix metallopeptidase 2 treatment ISO RGD PMID:24419461 RGD:8657111 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO protein:increased expression:cerebrospinal fluid RGD PMID:17371820 PMID:24419461 RGD:1642043, RGD:8657111 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 ISO mRNA, protein:increased expression:brain RGD PMID:25443778 RGD:9831197 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 ISO mRNA:increased expression:brain RGD PMID:21603940 RGD:5684913 NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO protein:increased expression:brain, nucleus RGD PMID:25443778 RGD:9831197 NCBI chr11:65,653,601...65,663,857
Ensembl chr11:65,653,599...65,663,090
JBrowse link
G SERPING1 serpin family G member 1 treatment IDA RGD PMID:17538891 RGD:8661645 NCBI chr11:57,597,685...57,614,848
Ensembl chr11:57,597,387...57,619,171
JBrowse link
G TLR2 toll like receptor 2 ISO mRNA:increased expression: : RGD PMID:12781911 RGD:7794740 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 mRNA:increased expression: : RGD PMID:12781911 RGD:7794740 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 ISO mRNA:increased expression: : RGD PMID:12781911 RGD:7794740 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 ISO protein:increased expression:brain
mRNA:increased expression:brain (rat)
RGD PMID:25443778 PMID:31933824 RGD:9831197, RGD:40903068 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
Pneumococcal Pneumonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AICDA activation induced cytidine deaminase ISO RGD PMID:26456931 RGD:11098923 NCBI chr12:8,602,170...8,612,859
Ensembl chr12:8,602,155...8,613,242
JBrowse link
G ALOX5 arachidonate 5-lipoxygenase ISO RGD PMID:20231413 RGD:4890435 NCBI chr10:45,374,216...45,446,117
Ensembl chr10:45,374,176...45,446,119
JBrowse link
G BTK Bruton tyrosine kinase ameliorates ISO RGD PMID:30646846 RGD:124715470 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796
JBrowse link
G C3 complement C3 disease_progression ISO
IEP
associated with Liver Cirrhosis, Experimental;protein:decreased expression:respiratory system fluid/secretion
protein:decreased expression:serum
RGD PMID:17956621 PMID:15972516 PMID:20405 RGD:5129523, RGD:5129509, RGD:5130163 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
JBrowse link
G C5 complement C5 severity ISO RGD PMID:7814608 RGD:5130159 NCBI chr 9:120,952,335...121,074,865
Ensembl chr 9:120,932,987...121,075,195
JBrowse link
G CCL5 C-C motif chemokine ligand 5 susceptibility ISO RGD PMID:16455992 RGD:4892130 NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
JBrowse link
G CD14 CD14 molecule ISO RGD PMID:17185649 RGD:4144788 NCBI chr 5:140,631,732...140,633,701
Ensembl chr 5:140,631,728...140,633,700
JBrowse link
G CHI3L1 chitinase 3 like 1 IEP protein:increased secretion:serum (human) RGD PMID:10515841 RGD:4892626 NCBI chr 1:203,178,931...203,186,704
Ensembl chr 1:203,178,931...203,186,704
JBrowse link
G CRHR1 corticotropin releasing hormone receptor 1 ISO RGD PMID:21774994 RGD:5147472 NCBI chr17:45,784,320...45,835,828
Ensembl chr17:45,784,277...45,835,828
JBrowse link
G CRHR2 corticotropin releasing hormone receptor 2 ISO RGD PMID:21774994 RGD:5147472 NCBI chr 7:30,651,942...30,700,103
Ensembl chr 7:30,651,942...30,700,129
JBrowse link
G CRP C-reactive protein disease_progression IEP RGD PMID:21281676 RGD:5131293 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G CXCL1 C-X-C motif chemokine ligand 1 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:20958976 RGD:5134957 NCBI chr 4:73,869,393...73,871,308
Ensembl chr 4:73,869,393...73,871,308
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24894820 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 ISO protein:increased expression:lung RGD PMID:20381636 RGD:5135285 NCBI chr 4:76,001,275...76,007,509
Ensembl chr 4:76,001,275...76,007,509
JBrowse link
G DEFB4A defensin beta 4A EXP CTD Direct Evidence: marker/mechanism CTD PMID:24894820 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 HMOX1 heme oxygenase 1 ISO associated with influenza;protein:increased expression:lung RGD PMID:17348295 RGD:4145366 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
JBrowse link
G HP haptoglobin IEP RGD PMID:19396720 RGD:5147385 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
JBrowse link
G IL15 interleukin 15 ISO protein:increased expression:alveolar macrophage, bronchial epithelial cell RGD PMID:17611121 RGD:5000755 NCBI chr 4:141,636,583...141,733,987
Ensembl chr 4:141,636,583...141,733,987
JBrowse link
G IL15RA interleukin 15 receptor subunit alpha ISO RGD PMID:17611121 RGD:5000755 NCBI chr10:5,948,900...5,978,741
Ensembl chr10:5,943,639...5,978,187
JBrowse link
G IL17A interleukin 17A ISO RGD PMID:19995896 RGD:4888531 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
JBrowse link
G IL18 interleukin 18 ISO RGD PMID:15770015 RGD:4889960 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
JBrowse link
G IL6 interleukin 6 ISO RGD PMID:20643849 RGD:4143255 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G LEP leptin ISO RGD PMID:17822444 RGD:5128869 NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
JBrowse link
G LEPR leptin receptor ISO RGD PMID:21148797 RGD:5128846 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24894820 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24894820 NCBI chr16:30,114,105...30,123,220
Ensembl chr16:30,114,105...30,123,506
JBrowse link
G MASP2 MBL associated serine protease 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12904520 NCBI chr 1:11,026,523...11,047,239
Ensembl chr 1:11,022,009...11,047,239
JBrowse link
G MBL2 mannose binding lectin 2 no_association IAGP DNA:polymorphisms:5' utr, exon:multiple (human)
DNA:mutations:5' utr, exon:multiple (human)
RGD PMID:12047967 PMID:18641104 RGD:4889478, RGD:4889477 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
JBrowse link
G NOS2 nitric oxide synthase 2 ISO RGD PMID:17056580 RGD:4891950 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
JBrowse link
G PTEN phosphatase and tensin homolog ameliorates ISO myeloid knockout RGD PMID:20505137 RGD:127285597 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G SFTPD surfactant protein D severity ISO RGD PMID:16255775 RGD:4143519 NCBI chr10:79,937,740...79,982,383
Ensembl chr10:79,937,467...79,982,614
JBrowse link
G SIRT1 sirtuin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24894820 NCBI chr10:67,884,656...67,918,390
Ensembl chr10:67,884,656...67,918,390
JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 ISO RGD PMID:29263110 RGD:39128230 NCBI chr 5:139,475,533...139,482,758
Ensembl chr 5:139,475,533...139,482,935
JBrowse link
G TLR2 toll like receptor 2 ISO RGD PMID:19956717 RGD:4145321 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
JBrowse link
G TNF tumor necrosis factor ISO associated with influenza;protein:increased expression:lung RGD PMID:9032201 PMID:17348295 RGD:4143479, RGD:4145366 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 ameliorates ISO RGD PMID:24752755 PMID:19596984 RGD:126928121, RGD:127229903 NCBI chr 6:41,267,385...41,286,682
Ensembl chr 6:41,267,926...41,286,682
JBrowse link
pneumonic tularemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IDO1 indoleamine 2,3-dioxygenase 1 ISO RGD PMID:20385761 RGD:39938865 NCBI chr 8:39,913,891...39,928,790
Ensembl chr 8:39,902,275...39,928,790
JBrowse link
Pseudomonas Aeruginosa Keratitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEBPB CCAAT enhancer binding protein beta treatment ISO mRNA, protein:increased expression:cornea (mouse) RGD PMID:23626014 RGD:40903020 NCBI chr20:50,190,583...50,192,690
Ensembl chr20:50,190,830...50,192,668
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO RGD PMID:9916118 RGD:8547701 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:23878501 RGD:7364804 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL18 interleukin 18 ISO RGD PMID:12023376 RGD:8655931 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
JBrowse link
G IL1B interleukin 1 beta ISO RGD PMID:11895986 RGD:7401195 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 treatment ISO mRNA:increased expression:cornea (mouse) RGD PMID:11895986 PMID:9423885 RGD:7401195, RGD:8549805 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
JBrowse link
G IL6 interleukin 6 ISO RGD PMID:11349084 RGD:7829813 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:16384971 RGD:8547891 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G TLR2 toll like receptor 2 IEP mRNA,protein:increased expression:cornea: RGD PMID:20012880 RGD:8552969 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
IEP
mRNA,protein:increased expression:cornea: RGD PMID:17065506 PMID:20012880 RGD:7794775, RGD:8552969 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
G TSLP thymic stromal lymphopoietin severity ISO RGD PMID:30128494 RGD:38596331 NCBI chr 5:111,070,062...111,078,026
Ensembl chr 5:111,070,062...111,078,026
JBrowse link
Pseudomonas Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase susceptibility IAGP DNA:polymorphism:cds:allele B (human) RGD PMID:22464692 RGD:38455983 NCBI chr 9:133,250,401...133,275,201
Ensembl chr 9:133,233,278...133,276,024
JBrowse link
G ANXA2 annexin A2 severity ISO RGD PMID:26371245 RGD:38676497 NCBI chr15:60,347,151...60,397,986
Ensembl chr15:60,347,134...60,402,883
JBrowse link
G CCL17 C-C motif chemokine ligand 17 IEP associated with Cystic Fibrosis RGD PMID:16387607 RGD:4145500 NCBI chr16:57,396,093...57,416,063
Ensembl chr16:57,404,767...57,416,063
JBrowse link
G CCL5 C-C motif chemokine ligand 5 treatment ISO protein:increased expression:lung, secretion (mouse) RGD PMID:20720199 PMID:27175332 RGD:4891951, RGD:32733623 NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
JBrowse link
G CFTR CF transmembrane conductance regulator ISO RGD PMID:15039325 PMID:11390493 RGD:36049749, RGD:36049752 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
JBrowse link
G CRP C-reactive protein ISO
IDA
protein:increased expression:blood
associated with Diabetes Mellitus, Type 1;
RGD PMID:19561148 PMID:22864910 RGD:5131464, RGD:6906966 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G CSF2 colony stimulating factor 2 treatment ISO associated with Neutropenia; RGD PMID:1966550 RGD:10449524 NCBI chr 5:132,073,789...132,076,170
Ensembl chr 5:132,073,789...132,076,170
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 treatment ISO RGD PMID:27175332 RGD:32733623 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
JBrowse link
G DCTN4 dynactin subunit 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22772370 NCBI chr 5:150,708,440...150,759,017
Ensembl chr 5:150,708,440...150,759,095
JBrowse link
G DEFB1 defensin beta 1 no_association
susceptibility
IAGP associated with Cystic Fibrosis;DNA:SNPs:5' utr, intron, 3' utr:multiple (human)
associated with Cystic Fibrosis;DNA:SNPs:5' utr:g.-52G>A, g.-44C>G, g.-20G>A (human)
RGD PMID:15820309 PMID:17960157 PMID:20193032 RGD:4892256, RGD:4892250, RGD:4892248 NCBI chr 8:6,870,592...6,877,936
Ensembl chr 8:6,870,592...6,877,936
JBrowse link
G FCGR2A Fc gamma receptor IIa IAGP associated with Cystic Fibrosis; DNA:polymorphism: :p.H131R (human) RGD PMID:15367919 RGD:4144121 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013
JBrowse link
G FGF2 fibroblast growth factor 2 treatment IDA human protein in mouse model RGD PMID:26617350 RGD:126928152 NCBI chr 4:122,826,682...122,898,236
Ensembl chr 4:122,826,682...122,898,236
JBrowse link
G FGF7 fibroblast growth factor 7 treatment IDA human protein in rat model RGD PMID:11076810 RGD:126928130 NCBI chr15:49,423,242...49,488,775
Ensembl chr15:49,423,237...49,488,775
JBrowse link
G GSTA4 glutathione S-transferase alpha 4 susceptibility ISO RGD PMID:22038048 RGD:5687774 NCBI chr 6:52,977,953...52,995,284
Ensembl chr 6:52,977,948...52,995,304
JBrowse link
G GSTP1 glutathione S-transferase pi 1 susceptibility IAGP associated with Cystic Fibrosis RGD PMID:18976645 RGD:4142522 NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656
JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 IAGP associated with Cystic Fibrosis;DNA:polymorphisms, haplotype:cds:HLA-DQA1*0201 (human) RGD PMID:10228112 RGD:5147865 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
JBrowse link
G IL13 interleukin 13 IEP associated with Cystic Fibrosis RGD PMID:16387607 RGD:4145500 NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
JBrowse link
G IL1B interleukin 1 beta treatment IDA associated with Agranulocytosis RGD PMID:7486912 PMID:7923933 RGD:7401204, RGD:10450534 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 IEP associated with Cystic Fibrosis RGD PMID:8327288 RGD:4143202 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
JBrowse link
G IL24 interleukin 24 IEP associated with Cystic Fibrosis RGD PMID:19399182 RGD:5147421 NCBI chr 1:206,897,443...206,904,139
Ensembl chr 1:206,897,443...206,904,139
JBrowse link
G IL27 interleukin 27 ameliorates ISO associated with Sepsis RGD PMID:25074706 RGD:126790541 NCBI chr16:28,499,362...28,506,834
Ensembl chr16:28,499,362...28,512,051
JBrowse link
G IL33 interleukin 33 ISO mRNA:increased expression:lung: RGD PMID:28401938 RGD:40400699 NCBI chr 9:6,215,149...6,257,983
Ensembl chr 9:6,215,786...6,257,983
JBrowse link
G IL6 interleukin 6 treatment ISO RGD PMID:27175332 RGD:32733623 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G IRAK3 interleukin 1 receptor associated kinase 3 severity ISO associated with Sepsis RGD PMID:16917541 RGD:36049803 NCBI chr12:66,189,214...66,254,622
Ensembl chr12:66,189,195...66,254,622
JBrowse link
G KLRK1 killer cell lectin like receptor K1 ISO RGD PMID:18832705 RGD:38676496 NCBI chr12:10,372,353...10,390,041
Ensembl chr12:10,372,353...10,391,874
JBrowse link
G MAPK8 mitogen-activated protein kinase 8 ameliorates ISO associated with Pneumonia, Ventilator-Associated RGD PMID:27506464 RGD:150340682 NCBI chr10:48,306,677...48,439,360
Ensembl chr10:48,306,639...48,439,360
JBrowse link
G MBL2 mannose binding lectin 2 onset IEP associated with Cystic Fibrosis; DNA:polymorphisms:5' utr, exon:multiple (human) RGD PMID:20068595 RGD:4889579 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
JBrowse link
G PTEN phosphatase and tensin homolog exacerbates ISO RGD PMID:29246444 RGD:127285608 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G PTX3 pentraxin 3 susceptibility IAGP associated with cystic fibrosis; DNA:SNPs, haplotypes:cds:rs35948036,rs2305619,rs1840680,rs3816527(human) RGD PMID:20927127 RGD:35673347 NCBI chr 3:157,436,850...157,443,633
Ensembl chr 3:157,436,850...157,443,633
JBrowse link
G SFTPB surfactant protein B ameliorates IDA RGD PMID:20007532 RGD:151667448 NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741
JBrowse link
G TLR5 toll like receptor 5 ISO RGD PMID:20566829 RGD:5129679 NCBI chr 1:223,109,404...223,143,248
Ensembl chr 1:223,109,404...223,143,292
JBrowse link
G TNF tumor necrosis factor treatment IDA
ISO
associated with Agranulocytosis RGD PMID:7923933 PMID:27175332 PMID:8168971 RGD:10450534, RGD:32733623, RGD:10450561 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO RGD PMID:20448050 RGD:5131427 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
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
Q fever term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA adenosine deaminase IEP protein:increased expression:serum RGD PMID:9255891 RGD:5128857 NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252
JBrowse link
G DHCR24 24-dehydrocholesterol reductase EXP CTD Direct Evidence: marker/mechanism CTD PMID:16469060 NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195
JBrowse link
G FLOT1 flotillin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16469060 NCBI chr 6:30,727,709...30,742,687
Ensembl chr 6:30,727,709...30,742,732
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase EXP CTD Direct Evidence: marker/mechanism CTD PMID:16469060 NCBI chr 5:75,336,529...75,362,116
Ensembl chr 5:75,336,329...75,364,001
JBrowse link
G LDLR low density lipoprotein receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:16469060 NCBI chr19:11,089,463...11,133,820
Ensembl chr19:11,089,418...11,133,820
JBrowse link
G LSS lanosterol synthase EXP CTD Direct Evidence: marker/mechanism CTD PMID:16469060 NCBI chr21:46,188,446...46,228,774
Ensembl chr21:46,188,141...46,228,824
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
rheumatic fever term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GC GC vitamin D binding protein IAGP RGD PMID:2737695 RGD:5509933 NCBI chr 4:71,741,693...71,805,520
Ensembl chr 4:71,741,696...71,804,041
JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP DNA:polymorphisms, haplotypes:multiple
DNA:polymorphism: :HLA-DQA1*03 (human)
RGD PMID:17559688 PMID:15789899 RGD:5147792, RGD:127285392 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 IAGP DNA:polymorphisms, haplotypes:multiple RGD PMID:17559688 RGD:5147792 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:polymorphisms, haplotypes:multiple RGD PMID:17559688 RGD:5147792 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G ICAM1 intercellular adhesion molecule 1 IEP protein:increased expression:serum RGD PMID:14567831 RGD:13702910 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
JBrowse link
rheumatic heart disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA2 actin alpha 2, smooth muscle ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,934,822...88,991,339
JBrowse link
G BAX BCL2 associated X, apoptosis regulator ISO mRNA:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
JBrowse link
G CD209 CD209 molecule IEP protein:increased expression:left cardiac atrium, dendritic cell (human) RGD PMID:30261069 RGD:41410815 NCBI chr19:7,739,993...7,747,534
Ensembl chr19:7,739,993...7,747,564
JBrowse link
G CD36 CD36 molecule (CD36 blood group) IEP mRNA:decreased expression:blood, mononuclear cell RGD PMID:16741676 RGD:6893529 NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO mRNA:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
JBrowse link
G FCN3 ficolin 3 IAGP ClinVar Annotator: match by term: Rheumatic heart disease ClinVar NCBI chr 1:27,369,110...27,374,824
Ensembl chr 1:27,369,110...27,374,824
JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO RGD PMID:26823728 RGD:13792679 NCBI chr12:6,534,517...6,538,371
Ensembl chr12:6,534,512...6,538,374
JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP DNA:polymorphisms, haplotypes:multiple
DNA:polymorphism, haplotype: :HLA-DQA1*0101, HLA-DQA1*0103, HLA-DQA1*0301 (human)
RGD PMID:17559688 PMID:29029143 RGD:5147792, RGD:126925989 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 IAGP DNA:polymorphisms:cds:HLA-DQB1*08 (human) RGD PMID:17578051 RGD:5147630 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)
DNA:polymorphism:cds:HLA-DRB1*13 (human)
RGD PMID:17578051 PMID:16426242 RGD:5147630, RGD:5147643 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G IGF1 insulin like growth factor 1 IEP RGD PMID:16406300 RGD:1582623 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744
JBrowse link
G IL10 interleukin 10 no_association IAGP RGD PMID:16043936 RGD:1598626 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G INHBA inhibin subunit beta A ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr 7:41,685,114...41,705,406
Ensembl chr 7:41,667,168...41,705,834
JBrowse link
G LEF1 lymphoid enhancer binding factor 1 ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr 4:108,047,548...108,168,932
Ensembl chr 4:108,047,545...108,168,956
JBrowse link
G MIR155 microRNA 155 ISO RGD PMID:31894293 RGD:151347417 NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
JBrowse link
G MMP9 matrix metallopeptidase 9 IEP RGD PMID:16406300 RGD:1582623 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G SNAI1 snail family transcriptional repressor 1 ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr20:49,982,980...49,988,886
Ensembl chr20:49,982,980...49,988,886
JBrowse link
G SOCS1 suppressor of cytokine signaling 1 treatment ISO RGD PMID:31894293 RGD:151347417 NCBI chr16:11,254,417...11,256,204
Ensembl chr16:11,254,417...11,256,204
JBrowse link
G TWIST1 twist family bHLH transcription factor 1 ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636
JBrowse link
G ZEB1 zinc finger E-box binding homeobox 1 ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr10:31,318,417...31,529,804
Ensembl chr10:31,318,495...31,529,814
JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
JBrowse link
rheumatic myocarditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GSN gelsolin IEP protein:decreased expression:blood plasma (human) RGD PMID:25403731 RGD:329333026 NCBI chr 9:121,201,483...121,332,842
Ensembl chr 9:121,207,794...121,332,843
JBrowse link
G ICAM1 intercellular adhesion molecule 1 severity IEP protein:increased expression:serum RGD PMID:22987107 RGD:13702907 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
JBrowse link
G SELE selectin E severity IEP protein:increased expression:serum RGD PMID:22987107 RGD:13702907 NCBI chr 1:169,722,640...169,734,079
Ensembl chr 1:169,722,640...169,764,705
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 severity IEP protein:increased expression:serum RGD PMID:22987107 RGD:13702907 NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045
JBrowse link
rhinoscleroma 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:haplotype: : RGD PMID:17321882 RGD:8547664 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 DNA:haplotype: : RGD PMID:17321882 RGD:8547664 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
Rickettsia Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAPGEF3 Rap guanine nucleotide exchange factor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24218580 NCBI chr12:47,734,363...47,758,880
Ensembl chr12:47,734,363...47,771,040
JBrowse link
Salmonella Infections, Animal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific ISO mRNA:splice variant:liver (mouse) RGD PMID:12228285 RGD:125097511 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013
JBrowse link
G AHR aryl hydrocarbon receptor severity ISO RGD PMID:24930766 RGD:39939032 NCBI chr 7:17,298,652...17,346,147
Ensembl chr 7:16,916,359...17,346,152
JBrowse link
G AICDA activation induced cytidine deaminase severity ISO RGD PMID:29743315 RGD:127285640 NCBI chr12:8,602,170...8,612,859
Ensembl chr12:8,602,155...8,613,242
JBrowse link
G ANK1 ankyrin 1 ISO RGD PMID:23390527 RGD:11041609 NCBI chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,741
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29421334 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
JBrowse link
G HAMP hepcidin antimicrobial peptide ISO RGD PMID:23390527 RGD:11041609 NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143
JBrowse link
G IDO1 indoleamine 2,3-dioxygenase 1 susceptibility ISO RGD PMID:24930766 RGD:39939032 NCBI chr 8:39,913,891...39,928,790
Ensembl chr 8:39,902,275...39,928,790
JBrowse link
G IFNG interferon gamma EXP CTD Direct Evidence: marker/mechanism CTD PMID:16002714 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO RGD PMID:14734525 RGD:5684962 NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894
JBrowse link
G TLR5 toll like receptor 5 ISO mRNA, protein:increased expression:jejunum, colon (rat) RGD PMID:20529359 RGD:5129497 NCBI chr 1:223,109,404...223,143,248
Ensembl chr 1:223,109,404...223,143,292
JBrowse link
salmonellosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COQ7 coenzyme Q7, hydroxylase susceptibility ISO RGD PMID:23166727 RGD:10402105 NCBI chr16:19,067,614...19,083,097
Ensembl chr16:19,067,614...19,080,095
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 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
salpingitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFTR CF transmembrane conductance regulator treatment ISO
IEP
RGD PMID:19012687 PMID:19012687 PMID:19012687 RGD:11566047, RGD:11566047, RGD:11566047 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
JBrowse link
shigellosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EGF epidermal growth factor treatment ISO RGD PMID:30615126 RGD:39938959 NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766
JBrowse link
G IDO1 indoleamine 2,3-dioxygenase 1 treatment ISO RGD PMID:30615126 RGD:39938959 NCBI chr 8:39,913,891...39,928,790
Ensembl chr 8:39,902,275...39,928,790
JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:30615126 RGD:39938959 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL12B interleukin 12B treatment ISO RGD PMID:30615126 RGD:39938959 NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863
JBrowse link
G IL1B interleukin 1 beta treatment ISO RGD PMID:30615126 RGD:39938959 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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
Staphylococcal Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme EXP CTD Direct Evidence: marker/mechanism CTD PMID:8186310 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G CD163 CD163 molecule exacerbates ISO RGD PMID:32199911 RGD:127285678 NCBI chr12:7,470,811...7,503,777
Ensembl chr12:7,470,811...7,503,893
JBrowse link
G CD36 CD36 molecule (CD36 blood group) EXP CTD Direct Evidence: marker/mechanism CTD PMID:15690042 NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277
JBrowse link
G CSF3 colony stimulating factor 3 EXP CTD Direct Evidence: therapeutic CTD PMID:27737899 NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23661603 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:23993644 RGD:7364979 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL2 interleukin 2 ISO RGD PMID:21603642 RGD:5147906 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
JBrowse link
G IL4 interleukin 4 susceptibility IAGP DNA:SNP:promoter:-542C>T (human) RGD PMID:18422436 RGD:7829791 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
JBrowse link
G IRAK3 interleukin 1 receptor associated kinase 3 treatment ISO RGD PMID:28954388 RGD:34888230 NCBI chr12:66,189,214...66,254,622
Ensembl chr12:66,189,195...66,254,622
JBrowse link
G LTF lactotransferrin IDA RGD PMID:10030017 RGD:7243953 NCBI chr 3:46,435,645...46,485,234
Ensembl chr 3:46,435,645...46,485,234
JBrowse link
G STAT2 signal transducer and activator of transcription 2 ameliorates ISO associated with influenza A RGD PMID:30337919 RGD:41789626 NCBI chr12:56,341,597...56,360,107
Ensembl chr12:56,341,597...56,360,203
JBrowse link
G TLR2 toll like receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23661603 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
JBrowse link
G XRN1 5'-3' exoribonuclease 1 susceptibility IAGP DNA:snp:intron:c.2339+1477G>A (rs7643377) (human) RGD PMID:24847357 RGD:11530009 NCBI chr 3:142,306,610...142,448,037
Ensembl chr 3:142,306,607...142,448,062
JBrowse link
Staphylococcal Pneumonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 treatment ISO RGD PMID:23613163 RGD:38676477 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
JBrowse link
G CD86 CD86 molecule ISO protein:decreased expression:spleen, plasmacytoid dendritic cell (mouse) RGD PMID:20949109 RGD:4892562 NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139
JBrowse link
G CFTR CF transmembrane conductance regulator ISO RGD PMID:28289144 RGD:36049750 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
JBrowse link
G CSF3 colony stimulating factor 3 treatment IDA RGD PMID:10228098 RGD:11039478 NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
JBrowse link
G FN1 fibronectin 1 ISO RGD PMID:12065530 RGD:7205474 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073
JBrowse link
G IFNAR1 interferon alpha and beta receptor subunit 1 susceptibility ISO RGD PMID:19603548 PMID:19603548 RGD:5490273, RGD:5490273 NCBI chr21:33,324,395...33,359,864
Ensembl chr21:33,324,387...33,359,864
JBrowse link
G IL10 interleukin 10 ISO mRNA, protein:increased expression:lung RGD PMID:22940620 RGD:7364825 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL15 interleukin 15 ISO RGD PMID:18390740 RGD:4996474 NCBI chr 4:141,636,583...141,733,987
Ensembl chr 4:141,636,583...141,733,987
JBrowse link
G IL1B interleukin 1 beta ISO RGD PMID:20065029 RGD:4142828 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL33 interleukin 33 ISO mRNA:increased expression:lung: RGD PMID:28401938 RGD:40400699 NCBI chr 9:6,215,149...6,257,983
Ensembl chr 9:6,215,786...6,257,983
JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 ISO RGD PMID:20493961 RGD:5131444 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase ISO protein:increased expression:lung (mouse) RGD PMID:28663335 RGD:13432209 NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 severity ISO mRNA:increased expression:lung
associated with influenza
RGD PMID:31782850 PMID:31782850 RGD:39131288, RGD:39131288 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 treatment ISO RGD PMID:25445964 RGD:127229910 NCBI chr14:24,336,025...24,339,991
Ensembl chr14:24,336,025...24,340,022
JBrowse link
G SFTPB surfactant protein B ameliorates IDA RGD PMID:20007532 RGD:151667448 NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741
JBrowse link
Staphylococcal Skin Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL17A interleukin 17A ISO RGD PMID:24614654 RGD:9068425 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
JBrowse link
G IL18 interleukin 18 treatment ISO RGD PMID:21536791 RGD:8655921 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
JBrowse link
G IL33 interleukin 33 treatment ISO mRNA,protein:increased expression:skin RGD PMID:23892028 PMID:23892028 RGD:40400893, RGD:40400893 NCBI chr 9:6,215,149...6,257,983
Ensembl chr 9:6,215,786...6,257,983
JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 ameliorates ISO RGD PMID:27524612 RGD:127229915 NCBI chr14:24,336,025...24,339,991
Ensembl chr14:24,336,025...24,340,022
JBrowse link
G SERPINF1 serpin family F member 1 severity ISO RGD PMID:25515118 RGD:36174009 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
JBrowse link
Streptococcal Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD86 CD86 molecule ISO associated with Encephalomyelitis, Experimental Autoimmune; protein:increased expression:spleen, dendritic cell (mouse) RGD PMID:16861672 RGD:4892553 NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139
JBrowse link
G IL17A interleukin 17A ISO protein:increased expression:serum (mouse) RGD PMID:22384827 RGD:8698662 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
JBrowse link
G LCN2 lipocalin 2 ISO mRNA,protein:increased expression:respiratory epithelium, olfactory mucosa epithelium RGD PMID:16153241 RGD:126781709 NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453
JBrowse link
G MX1 MX dynamin like GTPase 1 IEP associated with pharyngitis;protein:increased expression:blood (human) RGD PMID:28077283 RGD:126777682 NCBI chr21:41,420,558...41,459,214
Ensembl chr21:41,420,020...41,470,071
JBrowse link
G TLR2 toll like receptor 2 severity ISO RGD PMID:19179417 RGD:7240559 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
JBrowse link
G TNF tumor necrosis factor ISO associated with Otitis Media RGD PMID:8302123 RGD:11554174 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
streptococcal meningitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIR146A microRNA 146a ISO miRNA:decreased expression:brain (rat) RGD PMID:26155141 RGD:126925169 NCBI chr 5:160,485,352...160,485,450
Ensembl chr 5:160,485,352...160,485,450
JBrowse link
G POLDIP2 DNA polymerase delta interacting protein 2 treatment ISO RGD PMID:32790044 RGD:124713556 NCBI chr17:28,346,633...28,357,527
Ensembl chr17:28,346,633...28,357,527
JBrowse link
Streptococcus pneumonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATM ATM serine/threonine kinase exacerbates ISO RGD PMID:27421701 RGD:126779562 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
JBrowse link
G BTK Bruton tyrosine kinase ISO RGD PMID:30873567 RGD:124715473 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796
JBrowse link
G CLEC4M C-type lectin domain family 4 member M severity ISO RGD PMID:16134084 RGD:39938986 NCBI chr19:7,763,243...7,769,605
Ensembl chr19:7,763,210...7,769,605
JBrowse link
G IDO1 indoleamine 2,3-dioxygenase 1 ISO mRNA:increased expression:lung (mouse) RGD PMID:20385761 RGD:39938865 NCBI chr 8:39,913,891...39,928,790
Ensembl chr 8:39,902,275...39,928,790
JBrowse link
G IFNG interferon gamma ISO protein:increased expression:lung,natural killer cell (mouse) RGD PMID:21887255 RGD:40818252 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:lung,natural killer cell (mouse) RGD PMID:21887255 RGD:40818252 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G IRAK3 interleukin 1 receptor associated kinase 3 severity ISO RGD PMID:22492852 RGD:35316076 NCBI chr12:66,189,214...66,254,622
Ensembl chr12:66,189,195...66,254,622
JBrowse link
G ITGB2 integrin subunit beta 2 susceptibility ISO RGD PMID:11390487 RGD:127345090 NCBI chr21:44,885,953...44,928,815
Ensembl chr21:44,885,953...44,931,989
JBrowse link
G LAMP1 lysosomal associated membrane protein 1 ISO protein:increased expression:lung, natural killer cell (mouse) RGD PMID:21887255 RGD:40818252 NCBI chr13:113,297,239...113,323,672
Ensembl chr13:113,297,239...113,323,672
JBrowse link
G MARCO macrophage receptor with collagenous structure exacerbates ISO RGD PMID:15263032 RGD:41412189 NCBI chr 2:118,942,194...118,994,660
Ensembl chr 2:118,942,194...118,994,660
JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 severity ISO RGD PMID:21887255 RGD:40818252 NCBI chr19:54,898,198...54,938,208
Ensembl chr19:54,906,148...54,916,140
JBrowse link
G PDCD1 programmed cell death 1 treatment ISO RGD PMID:25624454 RGD:40818422 NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894
JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta treatment ISO associated with immunodeficiency 14 RGD PMID:30093657 RGD:40890269 NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114
JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma severity ISO RGD PMID:17322108 RGD:38599154 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:33625952 RGD:127229925 NCBI chr14:24,336,025...24,339,991
Ensembl chr14:24,336,025...24,340,022
JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:lung,natural killer cell (mouse) RGD PMID:21887255 RGD:40818252 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
syphilis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCR5 C-C motif chemokine receptor 5 IEP RGD PMID:18008231 RGD:8551830 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 treatment IEP RGD PMID:27284313 RGD:38456006 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800
JBrowse link
G KIR3DS1 killer cell immunoglobulin like receptor, three Ig domains and short cytoplasmic tail 1 susceptibility IAGP DNA:deletion: (human) RGD PMID:22958291 RGD:150340581
G NEFL neurofilament light chain IEP associated with age;protein:increased expression:CSF (human) RGD PMID:32117023 RGD:127285386 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721
JBrowse link
G TREM2 triggering receptor expressed on myeloid cells 2 IEP associated with age;protein:increased expression:CSF (human) RGD PMID:32117023 RGD:127285386 NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,506...41,163,186
JBrowse link
Tick-Borne Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAPGEF3 Rap guanine nucleotide exchange factor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24218580 NCBI chr12:47,734,363...47,758,880
Ensembl chr12:47,734,363...47,771,040
JBrowse link
tick-borne encephalitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD40 CD40 molecule IEP protein:increased expression:cerebrospinal fluid (human) RGD PMID:16463218 RGD:11352252 NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
JBrowse link
G CD40LG CD40 ligand IEP protein:increased expression:cerebrospinal fluid (human) RGD PMID:16463218 RGD:11352252 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
toxic shock syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2M alpha-2-macroglobulin treatment ISO RGD PMID:2424486 RGD:10046036 NCBI chr12:9,067,708...9,116,229
Ensembl chr12:9,067,664...9,116,229
JBrowse link
G ACE angiotensin I converting enzyme severity IAGP DNA:SNP, insertion/deletion:promoter, intron: (rs4291, rs4646994) RGD PMID:28336767 RGD:39939121 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G ADK adenosine kinase ISO RGD PMID:8207212 RGD:6482670 NCBI chr10:74,151,221...74,709,290
Ensembl chr10:74,151,202...74,709,963
JBrowse link
G ADM adrenomedullin ISO RGD PMID:17318497 PMID:17766482 RGD:1625310, RGD:1642599 NCBI chr11:10,305,073...10,307,397
Ensembl chr11:10,305,073...10,307,397
JBrowse link
G ADRB2 adrenoceptor beta 2 disease_progression
treatment
IAGP
IDA
DNA:polymorphism: :rs1042717(human) RGD PMID:19850944 PMID:16076286 RGD:8548487, RGD:8548529 NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623
JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO RGD PMID:21270403 RGD:6767566 NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322
JBrowse link
G AQP1 aquaporin 1 (Colton blood group) EXP CTD Direct Evidence: marker/mechanism CTD PMID:24028651 NCBI chr 7:30,911,853...30,925,516
Ensembl chr 7:30,911,853...30,925,517
JBrowse link
G C5AR1 complement C5a receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18063050 NCBI chr19:47,307,477...47,322,066
Ensembl chr19:47,290,023...47,322,066
JBrowse link
G CCKBR cholecystokinin B receptor ISO mRNA:increased expression:myocardium RGD PMID:15948246 RGD:2311332 NCBI chr11:6,259,838...6,272,127
Ensembl chr11:6,259,806...6,272,127
JBrowse link
G CCL2 C-C motif chemokine ligand 2 disease_progression IEP RGD PMID:28834779 RGD:14995949 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
JBrowse link
G CD274 CD274 molecule severity IEP protein:increased expression:serum
protein:increased expression:lymphocyte, mononcyte
RGD PMID:29702526 PMID:26063974 RGD:40822808, RGD:41410786 NCBI chr 9:5,450,542...5,470,554
Ensembl chr 9:5,450,503...5,470,566
JBrowse link
G ELANE elastase, neutrophil expressed treatment ISO RGD PMID:18323746 RGD:10450579 NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247
JBrowse link
G ENO2 enolase 2 ISO proteiin:increased expression:serum RGD PMID:17083782 RGD:2293748 NCBI chr12:6,914,580...6,923,697
Ensembl chr12:6,913,745...6,923,698
JBrowse link
G F2 coagulation factor II, thrombin severity IEP protein:decreased expression:blood plasma (human) RGD PMID:2788582 RGD:40822807 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
JBrowse link
G FANCC FA complementation group C ISO RGD PMID:17404312 RGD:11045879 NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796
JBrowse link
G GC GC vitamin D binding protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:17852808 NCBI chr 4:71,741,693...71,805,520
Ensembl chr 4:71,741,696...71,804,041
JBrowse link
G GRK2 G protein-coupled receptor kinase 2 IEP mRNA:decreased expression:polymorphonuclear leukocyte RGD PMID:24465168 RGD:126848796 NCBI chr11:67,266,473...67,286,556
Ensembl chr11:67,266,473...67,286,556
JBrowse link
G HLA-DRA major histocompatibility complex, class II, DR alpha disease_progression IEP
EXP
associated with Burns
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:28771573 PMID:17568330 PMID:15644645 RGD:5490160, RGD:5490203 NCBI chr 6:32,439,887...32,445,046
Ensembl chr 6:32,439,878...32,445,046
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IEP mRNA:decreased expression:blood RGD PMID:15644645 RGD:5490203 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G HMOX1 heme oxygenase 1 ISO RGD PMID:18208666 RGD:4145362 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
JBrowse link
G HSPA1B heat shock protein family A (Hsp70) member 1B susceptibility IAGP associated wit community-acquired pneumonia;DNA:SNP: :1267A>G (human) RGD PMID:12771604 RGD:5147601 NCBI chr 6:31,827,738...31,830,254
Ensembl chr 6:31,827,738...31,830,254
JBrowse link
G IDO1 indoleamine 2,3-dioxygenase 1 severity IEP protein:increased activity, increased expression:plasma, heart (human) RGD PMID:21765346 RGD:39939075 NCBI chr 8:39,913,891...39,928,790
Ensembl chr 8:39,902,275...39,928,790
JBrowse link
G IFNG interferon gamma IEP protein:increased expression:plasma RGD PMID:25403265 RGD:38455982 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IL10 interleukin 10 severity
onset
IDA
ISO
IEP
protein:increased expression:lung (mouse)
protein:increased expression:plasma
RGD PMID:12117955 PMID:12117955 PMID:28659355 PMID:25403265 PMID:7593621 RGD:1598471, RGD:1598471, RGD:40890272, RGD:38455982, RGD:11049456 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL19 interleukin 19 IEP protein:increased expression:serum RGD PMID:18246602 RGD:5037232 NCBI chr 1:206,770,773...206,842,981
Ensembl chr 1:206,770,764...206,842,981
JBrowse link
G IL1B interleukin 1 beta severity ISO protein:increased expression:lung (mouse) RGD PMID:28659355 RGD:40890272 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 treatment
susceptibility
IMP
IAGP
human gene in a mouse model
associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphism::
RGD PMID:15516267 PMID:23014359 RGD:8551736, RGD:11522756 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
JBrowse link
G IL20RA interleukin 20 receptor subunit alpha ISO mRNA:increased expression:multiple RGD PMID:18246602 RGD:5037232 NCBI chr 6:136,999,971...137,044,965
Ensembl chr 6:136,999,971...137,045,180
JBrowse link
G IL20RB interleukin 20 receptor subunit beta ISO mRNA:increased expression:multiple RGD PMID:18246602 RGD:5037232 NCBI chr 3:136,957,983...137,011,085
Ensembl chr 3:136,946,230...137,011,085
JBrowse link
G IL27 interleukin 27 ISO protein, mRNA:increased expression:blood serum, spleen (mouse) RGD PMID:20435892 RGD:126790535 NCBI chr16:28,499,362...28,506,834
Ensembl chr16:28,499,362...28,512,051
JBrowse link
G IL6 interleukin 6 treatment ISO RGD PMID:2124237 RGD:11060276 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G MBL2 mannose binding lectin 2 susceptibility IAGP associated with acute pyelonephritis;DNA:SNPs, missense mutations, haplotypes:promoter, cds:multiple RGD PMID:17202308 RGD:6903268 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
JBrowse link
G MC2R melanocortin 2 receptor ISO protein:increased expression:liver (rat) RGD PMID:2822467 RGD:6484558 NCBI chr18:13,882,044...13,915,707
Ensembl chr18:13,882,044...13,915,707
JBrowse link
G MIF macrophage migration inhibitory factor ISO RGD PMID:17381395 PMID:17565848 RGD:4891013, RGD:1641978 NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227
JBrowse link
G MIR155 microRNA 155 IEP RGD PMID:29979224 RGD:21081538 NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
JBrowse link
G MIR21 microRNA 21 exacerbates
ameliorates
ISO RGD PMID:28437377 PMID:31189875 RGD:41404641, RGD:41404698 NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
JBrowse link
G MIR494 microRNA 494 severity IEP RGD PMID:30783439 RGD:150527846 NCBI chr14:101,029,634...101,029,714
Ensembl chr14:101,029,634...101,029,714
JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 susceptibility IAGP associated with Burns; DNA:missense mutation:cds:m.4216T>C (human) RGD PMID:19487983 RGD:5148017 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262
JBrowse link
G NFKBIA NFKB inhibitor alpha treatment ISO RGD PMID:11961112 RGD:126928137 NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749
JBrowse link
G NOS2 nitric oxide synthase 2 ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:8745224 PMID:16601845 RGD:1580268 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
JBrowse link
G NPPC natriuretic peptide C IEP protein:increased expression:plasma RGD PMID:8117275 RGD:1642297 NCBI chr 2:231,921,809...231,926,396
Ensembl chr 2:231,921,809...231,926,396
JBrowse link
G OGG1 8-oxoguanine DNA glycosylase ISO RGD PMID:15677345 RGD:8657146 NCBI chr 3:9,749,952...9,783,108
Ensembl chr 3:9,749,944...9,788,219
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO RGD PMID:12445868 RGD:10414070 NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,210...226,408,154
JBrowse link
G PDCD1 programmed cell death 1 severity IEP protein:increased expression:serum
protein:increased expression:lymphocyte, mononcyte
RGD PMID:29702526 PMID:26063974 RGD:40822808, RGD:41410786 NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894
JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta severity ISO RGD PMID:28659355 RGD:40890272 NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114
JBrowse link
G PLAUR plasminogen activator, urokinase receptor ISO RGD PMID:20693875 RGD:6484122 NCBI chr19:43,646,095...43,670,169
Ensembl chr19:43,646,095...43,670,547
JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa treatment ISO
IDA
RGD PMID:19320827 PMID:21850534 RGD:11100015, RGD:11100041 NCBI chr 2:127,418,427...127,429,242
Ensembl chr 2:127,418,427...127,429,242
JBrowse link
G PTX3 pentraxin 3 IEP protein:increased expression:plasma (human) RGD PMID:30687307 RGD:38508896 NCBI chr 3:157,436,850...157,443,633
Ensembl chr 3:157,436,850...157,443,633
JBrowse link
G REN renin exacerbates IEP protein:increased activity:blood plasma (human) RGD PMID:31723628 RGD:125097502 NCBI chr 1:204,154,819...204,166,337
Ensembl chr 1:204,154,819...204,190,324
JBrowse link
G SELL selectin L ISO protein:increased expression:plasma RGD PMID:19375498 RGD:5685700 NCBI chr 1:169,690,667...169,711,620
Ensembl chr 1:169,690,665...169,711,702
JBrowse link
G SERPINC1 serpin family C member 1 treatment IDA RGD PMID:16732381 RGD:1599323 NCBI chr 1:173,903,800...173,917,327
Ensembl chr 1:173,903,800...173,917,327
JBrowse link
G SERPINE1 serpin family E member 1 susceptibility IAGP associated with Pneumonia; DNA:polymorphism:promoter:rs1799768 (human) RGD PMID:20429897 RGD:4144828 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
G SERPINF1 serpin family F member 1 severity IEP protein:decreased expression:plasma (human) RGD PMID:6158114 RGD:36174004 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
JBrowse link
G SERPING1 serpin family G member 1 treatment IDA RGD PMID:8172580 RGD:8661646 NCBI chr11:57,597,685...57,614,848
Ensembl chr11:57,597,387...57,619,171
JBrowse link
G SFTPB surfactant protein B IAGP associated with Pneumonia;DNA:polymorphism: :1580C>T (human) RGD PMID:15190959 RGD:4143404 NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741
JBrowse link
G SOCS1 suppressor of cytokine signaling 1 severity ISO RGD PMID:19469017 RGD:150573701 NCBI chr16:11,254,417...11,256,204
Ensembl chr16:11,254,417...11,256,204
JBrowse link
G TBXA2R thromboxane A2 receptor treatment ISO RGD PMID:7816742 RGD:11059599 NCBI chr19:3,594,507...3,606,875
Ensembl chr19:3,594,507...3,606,875
JBrowse link
G TFPI tissue factor pathway inhibitor treatment IDA RGD PMID:11776329 RGD:11062085 NCBI chr 2:187,464,230...187,554,435
Ensembl chr 2:187,464,230...187,565,760
JBrowse link
G THPO thrombopoietin IEP protein:increased expression:serum: RGD PMID:20467749 RGD:10449021 NCBI chr 3:184,371,935...184,379,688
Ensembl chr 3:184,371,935...184,381,968
JBrowse link
G TNF tumor necrosis factor treatment ISO
EXP
protein:increased expression:peritoneal macrophage, cell surface (rat)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:20054000 PMID:2213560 PMID:12622907 RGD:10449465, RGD:1598936 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 IEP mRNA:decreased expression:polymorphonuclear leukocyte RGD PMID:24465168 RGD:126848796 NCBI chr 6:41,267,385...41,286,682
Ensembl chr 6:41,267,926...41,286,682
JBrowse link
G ZC3H12A zinc finger CCCH-type containing 12A ISO RGD PMID:23422584 RGD:39938961 NCBI chr 1:37,474,580...37,484,377
Ensembl chr 1:37,474,580...37,484,377
JBrowse link
trachoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXCL8 C-X-C motif chemokine ligand 8 susceptibility IAGP DNA:SNP:promoter:g.-251A>T (rs4073) (human) RGD PMID:20015396 RGD:150520200 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP DNA:polymorphism:cds:HLA-B*14 (human, Tanzanian) RGD PMID:18824733 RGD:7364877 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
JBrowse link
G IL10 interleukin 10 no_association
severity
IEP
IAGP
protein:increased expression:tear
DNA:SNP:promoter:−1082G>A (human)
DNA:SNP:promoter:−819T>C, −592A>C (human)
DNA:SNP, haplotype:promoter:−1082G>A (human)
DNA:haplotype: :
RGD PMID:18628987 PMID:11023480 PMID:11023480 PMID:15789056 PMID:17947295 RGD:7365037, RGD:7365085, RGD:7365085, RGD:7365072, RGD:7365053 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL17A interleukin 17A IEP mRNA:increased expression:conjunctiva (human) RGD PMID:21911461 RGD:9068420 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
JBrowse link
G TNF tumor necrosis factor IAGP DNA:SNP, haplotypes:promoter:−308G>A (human) RGD PMID:17330135 RGD:8548830 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
Trachomatous Trichiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A1 collagen type I alpha 1 chain IEP mRNA:decreased expression:tarsal conjunctiva (human) RGD PMID:20375326 RGD:8552676 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
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 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
CTD
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
EXP
IMP
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
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
EXP
ClinVar Annotator: match by term: Tuberculosis, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
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
EXP
ClinVar Annotator: match by term: Mycobacterium tuberculosis, protection against
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
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 IAGP
EXP
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
ClinVar Annotator: match by term: Mycobacterium tuberculosis, protection against
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
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
EXP
CTD Direct Evidence: marker/mechanism OMIM
CTD
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
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to infection by
DNA:insertion, polymorphism:3' utr:p.D543N (human)
ClinVar
CTD
OMIM
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
EXP
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
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
EXP
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
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
tularemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD86 CD86 molecule ISO protein:increased expression:lung, dendritic cell (mouse) RGD PMID:16272336 RGD:4892560 NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139
JBrowse link
G CXCL2 C-X-C motif chemokine ligand 2 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:21277990 RGD:5135025 NCBI chr 4:74,097,040...74,099,195
Ensembl chr 4:74,097,040...74,099,196
JBrowse link
G IFNG interferon gamma ISO protein:increased expression:serum RGD PMID:26853540 RGD:14974256 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IL17A interleukin 17A ISO RGD PMID:20585449 RGD:4888521 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
JBrowse link
G IL23A interleukin 23 subunit alpha ISO RGD PMID:25296161 RGD:39458039 NCBI chr12:56,338,884...56,340,410
Ensembl chr12:56,334,174...56,340,410
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:17202364 RGD:5130727 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
typhoid fever 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:repeats: :CA repeats(human) RGD PMID:16078047 RGD:35673348 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP DNA:polymorphisms:: RGD PMID:11120931 RGD:36049756 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 EXP
IAGP
CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :HLA-DRB1*04:05, rs7765379(human)
DNA:polymorphisms::
CTD
RGD
PMID:25383971 PMID:25383971 PMID:11120931 RGD:36174025, RGD:36049756 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G LTA lymphotoxin alpha susceptibility IAGP DNA:SNP:: RGD PMID:11120931 RGD:36049756 NCBI chr 6:31,560,610...31,574,324
Ensembl chr 6:31,572,054...31,574,324
JBrowse link
G TLR2 toll like receptor 2 ISO RGD PMID:25667264 RGD:11061268 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
JBrowse link
G TNF tumor necrosis factor susceptibility IAGP DNA:SNP:promoter:-308G>A (rs1800629) (human) RGD PMID:11120931 RGD:36049756 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
urinary schistosomiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD1D CD1d molecule IEP protein:increased expression:B cell (human) RGD PMID:22347409 RGD:127345101 NCBI chr 1:158,178,030...158,186,427
Ensembl chr 1:158,178,030...158,186,427
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility IAGP DNA:SNPs:multiple:Gabonese(human) RGD PMID:22288822 RGD:7204674 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
JBrowse link
G IL5 interleukin 5 resistance IEP RGD PMID:9697734 RGD:7241010 NCBI chr 5:132,541,445...132,556,815
Ensembl chr 5:132,541,445...132,556,838
JBrowse link
G STAT6 signal transducer and activator of transcription 6 severity IAGP DNA:SNP:enhancer: (rs324013) RGD PMID:18273035 RGD:7243977 NCBI chr12:57,095,408...57,111,362
Ensembl chr12:57,095,408...57,132,139
JBrowse link
urinary tract infection term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXCL8 C-X-C motif chemokine ligand 8 treatment IMP human recombinant protein in a mouse model RGD PMID:28011398 RGD:150520199 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
JBrowse link
G CXCR1 C-X-C motif chemokine receptor 1 IAGP RGD PMID:21151974 RGD:7207862 NCBI chr 2:218,162,841...218,166,962
Ensembl chr 2:218,162,841...218,166,962
JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 ISO RGD PMID:18401338 RGD:7257688 NCBI chr 2:218,125,294...218,137,251
Ensembl chr 2:218,125,289...218,137,251
JBrowse link
G HSPA1B heat shock protein family A (Hsp70) member 1B IAGP DNA: SNP: :g.1267A>G RGD PMID:20379347 RGD:7242733 NCBI chr 6:31,827,738...31,830,254
Ensembl chr 6:31,827,738...31,830,254
JBrowse link
G IL18 interleukin 18 ISO protein:increased expression:urine RGD PMID:19171043 RGD:2311084 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
JBrowse link
G IL1A interleukin 1 alpha ISO protein:increased expression:urine RGD PMID:19171043 PMID:21690238 RGD:2311084, RGD:6907113 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 ISO protein:increased expression:urine RGD PMID:19171043 PMID:20886104 RGD:2311084, RGD:7175340 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G LCN2 lipocalin 2 disease_progression
ameliorates
treatment
ISO
IDA
IEP
protein:increased expression:urine: RGD PMID:25398327 PMID:24937428 PMID:24937428 PMID:24937428 RGD:126779559, RGD:126779579, RGD:126779579, RGD:126779579 NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453
JBrowse link
G NOS2 nitric oxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9011564 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
JBrowse link
G POMC proopiomelanocortin EXP CTD Direct Evidence: marker/mechanism CTD PMID:6254450 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
JBrowse link
G TLR2 toll like receptor 2 susceptibility IAGP DNA:polymorphism: :p.R753Q (human) RGD PMID:18001294 RGD:7240561 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 IAGP DNA:snp:cds:p.D299G (human) RGD PMID:19543401 RGD:7246906 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
Whipple disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD163 CD163 molecule IEP protein:increased expression:duodenum, macrophage (human) RGD PMID:19664628 RGD:149735573 NCBI chr12:7,470,811...7,503,777
Ensembl chr12:7,470,811...7,503,893
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35756
    disease by infectious agent 2740
      Bacterial Infections and Mycoses 1246
        bacterial infectious disease 1003
          Bacteremia + 178
          Bacterial Endocarditis + 0
          Bacterial Eye Infections + 21
          Bacterial Lung Diseases + 150
          Bacterial Skin Diseases + 25
          Bacterial Zoonoses 0
          Central Nervous System Bacterial Infections + 48
          Fournier Gangrene 0
          Gram-Negative Bacterial Infections + 207
          Gram-Positive Bacterial Infections + 560
          Immunodeficiency 67 3
          Immunodeficiency 68 8
          Sexually Transmitted Diseases + 248
          Spirochaetales Infections + 22
          acute infection of pinna 0
          bacterial esophagitis 0
          bacterial exanthem 0
          bacterial gastritis 6
          bacterial sepsis + 178
          bacterial vaginosis 1
          beach ear 0
          commensal bacterial infectious disease + 74
          immunodeficiency 33 202
          infective endocarditis + 1
          malignant otitis externa 0
          opportunistic bacterial infectious disease + 4
          osteomyelitis + 27
          pelvic inflammatory disease + 10
          perichondritis of auricle + 0
          primary bacterial infectious disease + 207
          purulent labyrinthitis 0
          pyosalpinx 0
          rheumatic myocarditis 4
          suppurative lymphadenitis 0
          urinary tract infection + 17
paths to the root