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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:Infectious Skin Diseases
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Accession:DOID:9000859 term browser browse the term
Definition:Skin diseases caused by bacteria, fungi, parasites, or viruses.
Synonyms:exact_synonym: Infectious Skin Disease
 primary_id: MESH:D012874
 alt_id: RDO:0005153
For additional species annotation, visit the Alliance of Genome Resources.



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allergic bronchopulmonary aspergillosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL17 C-C motif chemokine ligand 17 ISO associated with Cystic Fibrosis RGD PMID:17898016 RGD:4145612 NCBI chr 6:19,345,929...19,372,972
Ensembl chr 6:19,345,941...19,348,926
JBrowse link
G CCR1 C-C motif chemokine receptor 1 ISO RGD PMID:15951834 RGD:5688155 NCBI chr13:29,227,218...29,233,862
Ensembl chr13:29,227,220...29,233,960
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO RGD PMID:10946288 RGD:8661731 NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,251,959...29,376,346
JBrowse link
G CFTR CF transmembrane conductance regulator ISO DNA:mutations: : RGD PMID:11243954 RGD:4140482 NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO RGD PMID:7743671 RGD:8547590 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
JBrowse link
G IL1A interleukin 1 alpha ISO RGD PMID:8699818 RGD:7794730 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
JBrowse link
G MBL2 mannose binding lectin 2 susceptibility ISO Chronic Necrotizing Pulmonary Aspergillosis; DNA:missense mutation:exon:p.R52C (human)
DNA:SNP:intron:1011G>A(human)
RGD PMID:11474427 PMID:16487239 RGD:4889577 RGD:8693711 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,894...97,108,936
JBrowse link
G TLR9 toll like receptor 9 susceptibility ISO DNA:SNP:promoter:g.-1237T>C (rs5743836) (human) RGD PMID:18275280 PMID:18936185 RGD:5130858 RGD:5130863 NCBI chr13:34,353,444...34,370,990 JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:8699818 RGD:7794730 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A susceptibility ISO DNA:snps:5' utr, exon:g.-609G>T rs4149570, g.36A>G rs767455 (human) RGD PMID:20646338 RGD:5131174 NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,073...64,331,909
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 ISO protein:decreased expression:skin RGD PMID:17545018 RGD:7483603 NCBI chr15:129,172,743...129,176,069 JBrowse link
G CD8A CD8a molecule ISO mRNA:decreased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr 3:57,999,228...58,029,768
Ensembl chr 3:57,998,891...58,037,130
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,926...107,289,103
JBrowse link
G FOXP3 forkhead box P3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:43,303,777...43,328,164
Ensembl chr  X:43,303,782...43,328,735
JBrowse link
G IL10 interleukin 10 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
JBrowse link
G IL12B interleukin 12B treatment ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559 PMID:23754510 RGD:40400714 RGD:7829774 NCBI chr16:64,143,268...64,158,929
Ensembl chr16:64,147,247...64,158,952
JBrowse link
G IL2 interleukin 2 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
JBrowse link
G IL21 interleukin 21 ISO protein:decreased expression:blood serum (human) RGD PMID:31414711 RGD:127285371 NCBI chr 8:101,532,742...101,540,712
Ensembl chr 8:101,530,949...101,540,738
JBrowse link
G IL4 interleukin 4 treatment ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559 PMID:23754510 RGD:40400714 RGD:7829774 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
JBrowse link
G IL6 interleukin 6 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G KLRK1 killer cell lectin like receptor K1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 5:61,646,691...61,655,386
Ensembl chr 5:61,623,200...61,656,195
JBrowse link
G MAPK8 mitogen-activated protein kinase 8 treatment ISO mRNA:increased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr14:88,988,914...89,108,875
Ensembl chr14:88,988,949...89,172,200
JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr13:22,976,951...22,979,568
Ensembl chr13:22,964,071...22,983,109
JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 6:59,092,258...59,099,992
Ensembl chr 6:59,092,655...59,099,992
JBrowse link
G PDCD1 programmed cell death 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,210...140,347,478
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,168...39,292,018
JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr 5:63,762,109...63,779,086
Ensembl chr 5:63,762,112...63,808,350
JBrowse link
G SERPINF1 serpin family F member 1 disease_progression ISO mRNA, protein:decreased expression:skin of body (human) RGD PMID:23569025 RGD:27226706 NCBI chr12:47,949,004...47,959,471
Ensembl chr12:47,943,051...47,959,472
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,169...49,349,048
JBrowse link
G TLR2 toll like receptor 2 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,991...75,446,850
JBrowse link
G TLR3 toll like receptor 3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr15:46,966,262...46,977,774
Ensembl chr15:46,966,040...47,058,734
JBrowse link
G TLR4 toll like receptor 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,059,004
JBrowse link
G TLR8 toll like receptor 8 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:9,551,284...9,616,762
Ensembl chr  X:9,549,552...9,616,759
JBrowse link
G TLR9 toll like receptor 9 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr13:34,353,444...34,370,990 JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 6:63,516,037...63,519,323 JBrowse link
aspergillosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGER advanced glycosylation end-product specific receptor ISO DNA:SNP:promoter:-374T>A (human) RGD PMID:22114731 RGD:8695981 NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,116...24,228,756
JBrowse link
G CCL19 C-C motif chemokine ligand 19 ISO associated with Neutropenia;mRNA:increased expression:lung RGD PMID:19783686 RGD:5130908 NCBI chr10:32,110,366...32,112,529
Ensembl chr10:32,110,064...32,112,739
JBrowse link
G CCR7 C-C motif chemokine receptor 7 ISO associated with Neutropenia RGD PMID:19783686 RGD:5130908 NCBI chr12:21,857,286...21,869,211
Ensembl chr12:21,856,467...21,872,535
JBrowse link
G CD209 CD209 molecule ISO RGD PMID:21381282 RGD:5131183 NCBI chr 2:71,394,414...71,397,711
Ensembl chr 2:71,394,390...71,397,969
JBrowse link
G CFTR CF transmembrane conductance regulator severity ISO RGD PMID:22135344 RGD:35673332 NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950
JBrowse link
G CLEC1A C-type lectin domain family 1 member A susceptibility ISO ClinVar Annotator: match by term: Aspergillosis, susceptibility to
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:29489751 NCBI chr 5:61,849,042...61,870,288
Ensembl chr 5:61,849,135...61,876,044
JBrowse link
G CLEC7A C-type lectin domain containing 7A susceptibility ISO ClinVar Annotator: match by term: Aspergillosis, susceptibility to
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:19864674 PMID:20807886 PMID:24033266 NCBI chr 5:61,832,910...61,846,441
Ensembl chr 5:61,832,944...61,846,438
JBrowse link
G CRP C-reactive protein, pentraxin-related treatment ISO RGD PMID:20879853 RGD:9495929 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,722,352...90,805,236
JBrowse link
G IL15 interleukin 15 ISO DNA:polymorphism (human) RGD PMID:16893395 RGD:4981337 NCBI chr 8:85,666,963...85,740,980
Ensembl chr 8:85,667,307...85,740,911
JBrowse link
G MBL2 mannose binding lectin 2 susceptibility ISO RGD PMID:20064561 RGD:8694071 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,894...97,108,936
JBrowse link
G S100B S100 calcium binding protein B ISO DNA:SNP: :427C>T (human) RGD PMID:22114731 RGD:8695981
G TLR1 toll like receptor 1 susceptibility ISO DNA:SNPs: :p.R80T, p.N248S (human) RGD PMID:16461792 RGD:4889535 NCBI chr 8:30,147,600...30,155,454
Ensembl chr 8:30,147,621...30,155,466
JBrowse link
G TLR2 toll like receptor 2 ISO mRNA:increased expression:lung RGD PMID:19781388 RGD:4145322 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,991...75,446,850
JBrowse link
G TLR6 toll like receptor 6 susceptibility ISO DNA:SNP: :p.S249P (human) RGD PMID:16461792 RGD:4889535 NCBI chr 8:30,159,744...30,180,650
Ensembl chr 8:30,159,754...30,180,650
JBrowse link
Autosomal Recessive Chronic Granulomatous Disease 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYBC1 cytochrome b-245 chaperone 1 ISO OMIM NCBI chr12:656,776...662,519
Ensembl chr12:656,347...662,515
JBrowse link
autosomal recessive chronic granulomatous disease cytochrome b-negative term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACSF3 acyl-CoA synthetase family member 3 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 NCBI chr 6:663,201...708,800
Ensembl chr 6:663,109...712,015
JBrowse link
G APRT adenine phosphoribosyltransferase ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 NCBI chr 6:890,272...893,278
Ensembl chr 6:890,831...893,277
JBrowse link
G CBFA2T3 CBFA2/RUNX1 partner transcriptional co-repressor 3 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 NCBI chr 6:779,164...854,449
Ensembl chr 6:778,967...852,821
JBrowse link
G CDT1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 NCBI chr 6:893,377...897,706 JBrowse link
G CTU2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 NCBI chr 6:964,551...976,881
Ensembl chr 6:964,566...976,832
JBrowse link
G CYBA cytochrome b-245 alpha chain ISO OMIM NCBI chr 6:1,015,212...1,021,422
Ensembl chr 6:1,015,154...1,021,418
JBrowse link
G GALNS galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 NCBI chr 6:869,284...890,137
Ensembl chr 6:869,232...890,135
JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 NCBI chr 6:1,008,100...1,014,303
Ensembl chr 6:1,008,100...1,014,302
JBrowse link
G PABPN1L PABPN1 like, cytoplasmic ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 NCBI chr 6:854,605...861,969
Ensembl chr 6:858,888...861,604
JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 NCBI chr 6:914,480...967,113
Ensembl chr 6:915,365...967,106
JBrowse link
G RNF166 ring finger protein 166 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 NCBI chr 6:976,957...982,997
Ensembl chr 6:976,977...983,198
JBrowse link
G SNAI3 snail family transcriptional repressor 3 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 NCBI chr 6:988,975...996,268
Ensembl chr 6:988,990...996,247
JBrowse link
G TRAPPC2L trafficking protein particle complex subunit 2L ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 NCBI chr 6:865,498...869,253
Ensembl chr 6:863,802...869,226
JBrowse link
autosomal recessive chronic granulomatous disease cytochrome b-positive type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NCF1 neutrophil cytosolic factor 1 ISO OMIM NCBI chr 3:11,820,367...11,834,394
Ensembl chr 3:11,820,285...11,839,426
JBrowse link
autosomal recessive chronic granulomatous disease cytochrome b-positive type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NCF2 neutrophil cytosolic factor 2 ISO OMIM NCBI chr 9:124,776,516...124,813,358
Ensembl chr 9:124,773,498...124,812,928
JBrowse link
autosomal recessive chronic granulomatous disease cytochrome b-positive type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NCF1 neutrophil cytosolic factor 1 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III ClinVar PMID:24446915 PMID:25741868 NCBI chr 3:11,820,367...11,834,394
Ensembl chr 3:11,820,285...11,839,426
JBrowse link
G NCF4 neutrophil cytosolic factor 4 ISO OMIM NCBI chr 5:10,876,147...10,994,002
Ensembl chr 5:10,874,953...10,994,015
JBrowse link
Candidiasis, Familial, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA2 ATP binding cassette subfamily A member 2 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
G C8G complement C8 gamma chain ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
G CARD9 caspase recruitment domain family member 9 ISO OMIM
G CCDC183 coiled-coil domain containing 183 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
G CLIC3 chloride intracellular channel 3 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
G DIPK1B divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
G EDF1 endothelial differentiation related factor 1 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
G EGFL7 EGF like domain multiple 7 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
G ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
G ENTR1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
G FBXW5 F-box and WD repeat domain containing 5 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
G FUT7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
G INPP5E inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
G LCN10 lipocalin 10 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
G LCN12 lipocalin 12 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
G LCN15 lipocalin 15 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
G LCN6 lipocalin 6 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
G LOC100513261 14 kDa phosphohistidine phosphatase ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
G LOC110258087 endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase-like ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
G MIR126 microRNA mir-126 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
G NPDC1 neural proliferation, differentiation and control 1 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
G PAXX PAXX non-homologous end joining factor ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
G PMPCA peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
G PTGDS prostaglandin D2 synthase ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
G RABL6 RAB, member RAS oncogene family like 6 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
G SAPCD2 suppressor APC domain containing 2 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
G SEC16A SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
G SNAPC4 small nuclear RNA activating complex polypeptide 4 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
G TMEM141 transmembrane protein 141 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
G TRAF2 TNF receptor associated factor 2 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
G UAP1L1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532
Candidiasis, Familial, 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLEC7A C-type lectin domain containing 7A ISO OMIM NCBI chr 5:61,832,910...61,846,441
Ensembl chr 5:61,832,944...61,846,438
JBrowse link
Candidiasis, Familial, 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL17F interleukin 17F ISO OMIM NCBI chr 7:46,058,371...46,066,039
Ensembl chr 7:46,058,326...46,066,120
JBrowse link
Candidiasis, Familial, 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRAF3IP2 TRAF3 interacting protein 2 ISO OMIM NCBI chr 1:77,483,997...77,541,557
Ensembl chr 1:77,480,926...77,541,210
JBrowse link
Candidiasis, Familial, 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRELD1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:25741868 PMID:28492532 NCBI chr13:66,194,795...66,203,419
Ensembl chr13:66,194,865...66,203,412
JBrowse link
G IL17RC interleukin 17 receptor C ISO OMIM NCBI chr13:66,179,298...66,194,750 JBrowse link
G IL17RE interleukin 17 receptor E ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr13:66,164,492...66,177,967 JBrowse link
G JAGN1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr13:66,154,855...66,158,329 JBrowse link
cellulitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB2 gap junction protein beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16172043 NCBI chr11:774,090...781,252 JBrowse link
chromoblastomycosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFNG interferon gamma treatment ISO RGD PMID:29481557 RGD:14975102 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,848...32,482,752
JBrowse link
chronic granulomatous disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYBA cytochrome b-245 alpha chain ISO autosomal recessive cytochrome b-negative CGD, OMIM:233690;DNA:missense mutation: :p.R90Q (human)
ClinVar Annotator: match by term: Chronic granulomatous disease
DNA:nonsense,missense mutations:exons:35C>T, 98G>A,(p.Q3X,G24R)(human)
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
RGD
ClinVar
CTD
PMID:1415254 PMID:1763037 PMID:2243141 PMID:10759707 PMID:10910929 More... RGD:11040541 RGD:1600791 RGD:734861 NCBI chr 6:1,015,212...1,021,422
Ensembl chr 6:1,015,154...1,021,418
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:4125296 NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,025,257...125,041,033
JBrowse link
G GP91-PHOX NADPH oxidase heavy chain subunit ISO DNA:point mutations:promoter
ClinVar Annotator: match by term: Chronic granulomatous disease
CTD Direct Evidence: marker/mechanism|therapeutic
DNA:mutations:promoter:
RGD
ClinVar
CTD
PMID:8083361 PMID:8634410 PMID:11045425 PMID:11122248 PMID:11498749 More... RGD:11040566 RGD:1599664 NCBI chr  X:33,654,656...33,678,346
Ensembl chr  X:33,642,015...33,680,580
JBrowse link
G IFNG interferon gamma ISO RGD PMID:22883043 RGD:6893353 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,848...32,482,752
JBrowse link
G NCF1 neutrophil cytosolic factor 1 ISO autosomal recessive cytochrome b-positive CGC type I, OMIM:233700, DNA:splice-site mutation:75delGT RGD PMID:7678602 RGD:1600562 NCBI chr 3:11,820,367...11,834,394
Ensembl chr 3:11,820,285...11,839,426
JBrowse link
G NCF2 neutrophil cytosolic factor 2 ISO ClinVar Annotator: match by term: Chronic granulomatous disease ClinVar NCBI chr 9:124,776,516...124,813,358
Ensembl chr 9:124,773,498...124,812,928
JBrowse link
G NCF4 neutrophil cytosolic factor 4 ISO ClinVar Annotator: match by term: Chronic granulomatous disease ClinVar PMID:19692703 PMID:29969437 PMID:34034819 NCBI chr 5:10,876,147...10,994,002
Ensembl chr 5:10,874,953...10,994,015
JBrowse link
G TLR5 toll like receptor 5 ISO protein:decreased expression:blood, neutrophil (human) RGD PMID:18155283 RGD:5130865 NCBI chr10:19,387,666...19,410,024
Ensembl chr10:19,387,666...19,410,024
JBrowse link
G TLR9 toll like receptor 9 ISO protein:decreased expression:blood, neutrophil (human) RGD PMID:18155283 RGD:5130865 NCBI chr13:34,353,444...34,370,990 JBrowse link
chronic mucocutaneous candidiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL17RA interleukin 17 receptor A ISO ClinVar Annotator: match by term: Familial Candidiasis, Recessive ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:69,461,280...69,480,343
Ensembl chr 5:69,461,290...69,480,112
JBrowse link
G MAPK8 mitogen-activated protein kinase 8 ISO associated with connective tissue disease;DNA:splice-site mutation:splice junction:c.311+1G>A (human) RGD PMID:31784499 RGD:150340677 NCBI chr14:88,988,914...89,108,875
Ensembl chr14:88,988,949...89,172,200
JBrowse link
G STAT1 signal transducer and activator of transcription 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chronic mucocutaneous candidiasis
CTD
ClinVar
PMID:21714643 PMID:21727188 PMID:23541320 PMID:23709754 PMID:24033266 More... NCBI chr15:95,593,201...95,646,324
Ensembl chr15:95,593,211...95,646,260
JBrowse link
combined cellular and humoral immune defects with granulomas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFTAP intraflagellar transport associated protein ISO ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas ClinVar PMID:8810255 PMID:25739914 PMID:28492532 NCBI chr 2:24,477,084...24,551,690
Ensembl chr 2:24,477,172...24,551,670
JBrowse link
G RAG1 recombination activating 1 ISO OMIM NCBI chr 2:24,565,447...24,573,853
Ensembl chr 2:24,565,449...24,602,590
JBrowse link
G RAG2 recombination activating 2 ISO OMIM NCBI chr 2:24,547,605...24,553,944
Ensembl chr 2:24,546,958...24,558,430
JBrowse link
cutaneous leishmaniasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAT catalase ISO protein:decreased activity:erythrocyte: RGD PMID:9892499 RGD:9479188 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20102417 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G CCR1 C-C motif chemokine receptor 1 ISO RGD PMID:12874303 RGD:5688168 NCBI chr13:29,227,218...29,233,862
Ensembl chr13:29,227,220...29,233,960
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO mRNA:increased expression:foot, lymph node RGD PMID:12874303 RGD:5688168 NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,251,959...29,376,346
JBrowse link
G CCR5 chemokine (C-C motif) receptor 5 no_association ISO DNA:frameshift mutation: :p.S185_T195del (rs333) (human) RGD PMID:17214851 PMID:23632983 RGD:8549764 RGD:8549765 NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,902
JBrowse link
G CD163 CD163 molecule ISO mRNA, protein:increased expression:skin of body, blood plasma, CD14-positive monocyte (human) RGD PMID:32023254 RGD:127345130 NCBI chr 5:63,300,200...63,334,497
Ensembl chr 5:63,300,146...63,334,498
JBrowse link
G CD274 CD274 molecule ISO RGD PMID:16358363 RGD:41410801 NCBI chr 1:216,646,378...216,792,731
Ensembl chr 1:216,660,047...216,792,724
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO DNA:SNPs: :rs1061237, rs2586488 (human) RGD PMID:25562121 RGD:11041176 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20102417 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
JBrowse link
G FOXP3 forkhead box P3 ISO mRNA:increased expression:Peripheral blood mononuclear cell: RGD PMID:29205403 RGD:38455981 NCBI chr  X:43,303,777...43,328,164
Ensembl chr  X:43,303,782...43,328,735
JBrowse link
G IFNG interferon gamma treatment ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD
PMID:8154019 PMID:9234779 PMID:20102417 PMID:27999013 RGD:40890273 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,848...32,482,752
JBrowse link
G IL10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:Peripheral blood mononuclear cell:
CTD
RGD
PMID:20102417 PMID:29205403 RGD:38455981 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
JBrowse link
G IL13 interleukin 13 treatment ISO RGD PMID:12739821 PMID:18924210 RGD:8549536 RGD:8549561 NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093
JBrowse link
G IL17A interleukin 17A ISO mRNA:increased expression:Peripheral blood mononuclear cell: RGD PMID:29205403 RGD:38455981 NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
JBrowse link
G IL23A interleukin 23 subunit alpha ISO RGD PMID:29078003 RGD:39457938 NCBI chr 5:21,732,416...21,733,981
Ensembl chr 5:21,732,165...21,734,267
JBrowse link
G IL4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20102417 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
JBrowse link
G KLRK1 killer cell lectin like receptor K1 treatment ISO associated with lymphocytic choriomeningitis RGD PMID:26290604 RGD:39128165 NCBI chr 5:61,646,691...61,655,386
Ensembl chr 5:61,623,200...61,656,195
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:20102417
G LTA lymphotoxin alpha no_association ISO DNA:SNP:intron:252A>G (human) RGD PMID:16950634 RGD:8548800 NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,039...23,698,302
JBrowse link
G LTB lymphotoxin beta ISO RGD PMID:17911622 RGD:8548820 NCBI chr 7:23,704,842...23,707,036 JBrowse link
G MMP2 matrix metallopeptidase 2 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:21091666 RGD:8657030 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,594...30,086,982
JBrowse link
G PDCD1LG2 programmed cell death 1 ligand 2 ISO RGD PMID:16358363 RGD:41410801 NCBI chr 1:216,564,428...216,600,333
Ensembl chr 1:216,553,101...216,682,607
JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta treatment ISO RGD PMID:27999013 RGD:40890273 NCBI chr 6:70,026,254...70,086,950
Ensembl chr 6:70,026,373...70,099,244
JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO DNA:insertion/deletion (human) RGD PMID:20089160 RGD:5684930 NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396
JBrowse link
G SOD1 superoxide dismutase 1 ISO protein:increased activity:erythrocyte: RGD PMID:9892499 RGD:9479188 NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,749
JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO RGD PMID:10458767 RGD:8661703 NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,653,861...95,763,448
JBrowse link
G TLR2 toll like receptor 2 ISO protein:decreased expression:skin: RGD PMID:20493664 RGD:7794748 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,991...75,446,850
JBrowse link
G TLR4 toll like receptor 4 ISO protein:decreased expression:skin: RGD PMID:20493664 RGD:7794748 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,059,004
JBrowse link
G TLR9 toll like receptor 9 ISO protein:decreased expression:skin: RGD PMID:20493664 RGD:7794748 NCBI chr13:34,353,444...34,370,990 JBrowse link
G TNF tumor necrosis factor no_association ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:promoter:-308G>A (rs1800629) (human)
CTD
RGD
PMID:16950634 PMID:20102417 RGD:8548800 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
eczema herpeticum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IDO1 indoleamine 2,3-dioxygenase 1 severity ISO associated with atopic dermatitis; protein:increased activity:serum (human) RGD PMID:26198597 RGD:11528429 NCBI chr17:9,245,283...9,260,140
Ensembl chr17:9,245,196...9,260,491
JBrowse link
G IFNG interferon gamma susceptibility ISO DNA:haplotype::
mRNA,protein:decreased expression:peripheral mononuclear cell:
RGD PMID:21458658 RGD:6480259 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,848...32,482,752
JBrowse link
epidermodysplasia verruciformis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMC6 transmembrane channel like 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
CTD
ClinVar
PMID:9536098 PMID:15042430 PMID:16199547 PMID:17139267 PMID:17576681 More... NCBI chr12:3,825,374...3,848,367
Ensembl chr12:3,825,440...3,844,624
JBrowse link
G TMC8 transmembrane channel like 8 ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:9536098 PMID:10084299 PMID:12426567 PMID:16045695 PMID:16199547 More... NCBI chr12:3,802,344...3,837,413
Ensembl chr12:3,795,893...3,837,363
JBrowse link
Epidermodysplasia Verruciformis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMC6 transmembrane channel like 6 ISO OMIM NCBI chr12:3,825,374...3,848,367
Ensembl chr12:3,825,440...3,844,624
JBrowse link
G TMC8 transmembrane channel like 8 ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 ClinVar PMID:12426567 PMID:22158547 PMID:25741868 PMID:28492532 NCBI chr12:3,802,344...3,837,413
Ensembl chr12:3,795,893...3,837,363
JBrowse link
Epidermodysplasia Verruciformis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMC8 transmembrane channel like 8 ISO OMIM NCBI chr12:3,802,344...3,837,413
Ensembl chr12:3,795,893...3,837,363
JBrowse link
Epidermodysplasia Verruciformis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CIB1 calcium and integrin binding 1 ISO OMIM NCBI chr 7:55,794,834...55,798,666
Ensembl chr 7:55,794,834...55,798,590
JBrowse link
Epidermodysplasia Verruciformis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RHOH ras homolog family member H susceptibility ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4 OMIM
ClinVar
PMID:22850876 NCBI chr 8:31,321,005...31,372,366
Ensembl chr 8:31,321,113...31,372,364
JBrowse link
Epidermodysplasia Verruciformis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL7 interleukin 7 susceptibility ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5 OMIM
ClinVar
PMID:25981006 NCBI chr 4:57,677,895...57,744,713
Ensembl chr 4:57,685,069...57,753,797
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 ISO DNA:missense mutation:cds: (rs4680) (human) RGD PMID:20184498 RGD:8662334 NCBI chr14:51,384,729...51,403,997
Ensembl chr14:51,385,133...51,403,998
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO DNA:SNP:promoter:g.-251T>A (human) RGD PMID:17709521 RGD:150523787 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
JBrowse link
G TLR2 toll like receptor 2 ISO mRNA:increased expression:footpad: RGD PMID:21205004 RGD:7794752 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,991...75,446,850
JBrowse link
G TLR4 toll like receptor 4 ISO mRNA:decreased expression:footpad: RGD PMID:21205004 RGD:7794752 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,059,004
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 ISO OMIM NCBI chr 4:90,121,209...90,142,934
Ensembl chr 4:90,118,998...90,142,890
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 ISO OMIM NCBI chr 6:45,171,825...45,174,112
Ensembl chr 6:45,171,825...45,177,203
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 ISO OMIM NCBI chr 7:96,478,179...96,567,884
Ensembl chr 7:96,478,181...96,569,132
JBrowse link
Familial Hidradenitis Suppurativa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NCSTN nicastrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929727 NCBI chr 4:90,121,209...90,142,934
Ensembl chr 4:90,118,998...90,142,890
JBrowse link
G PSEN1 presenilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929727 NCBI chr 7:96,478,179...96,567,884
Ensembl chr 7:96,478,181...96,569,132
JBrowse link
G PSENEN presenilin enhancer, gamma-secretase subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929727 NCBI chr 6:45,171,825...45,174,112
Ensembl chr 6:45,171,825...45,177,203
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 chr17:37,542,615...37,718,787 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 chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
JBrowse link
G IFNAR1 interferon alpha and beta receptor subunit 1 exacerbates ISO RGD PMID:28264883 RGD:125093738 NCBI chr13:196,925,731...196,951,398
Ensembl chr13:196,925,704...196,952,239
JBrowse link
G IFNG interferon gamma ISO protein:increased expression:vaginal secretion: RGD PMID:10366565 RGD:8158034 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,848...32,482,752
JBrowse link
G IL21 interleukin 21 treatment ISO RGD PMID:24358128 RGD:127285365 NCBI chr 8:101,532,742...101,540,712
Ensembl chr 8:101,530,949...101,540,738
JBrowse link
G IRF9 interferon regulatory factor 9 exacerbates ISO RGD PMID:28264883 RGD:125093738 NCBI chr 7:75,133,800...75,139,641
Ensembl chr 7:75,126,609...75,139,639
JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ameliorates ISO RGD PMID:31555293 RGD:42722615 NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,648...83,146,183
JBrowse link
G RNASEL ribonuclease L severity ISO RGD PMID:17157346 RGD:40902623 NCBI chr 9:123,895,045...123,910,386
Ensembl chr 9:123,893,306...123,910,432
JBrowse link
G STAT4 signal transducer and activator of transcription 4 treatment
severity
ISO DNA:SNP:intron:rs7572482 (human)
DNA:SNPs, haplotype: :multiple
RGD PMID:22718836 RGD:8661697 NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,653,861...95,763,448
JBrowse link
herpes simplex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOE apolipoprotein E ISO RGD PMID:17101197 RGD:7771596 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,259...51,377,794
JBrowse link
G C3 complement C3 ISO RGD PMID:11509581 RGD:7401276 NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,499...72,528,112
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 ISO mRNA:increased expression:cornea (mouse) RGD PMID:9544579 RGD:8549472 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G CD274 CD274 molecule ISO RGD PMID:29669784 RGD:41412169 NCBI chr 1:216,646,378...216,792,731
Ensembl chr 1:216,660,047...216,792,724
JBrowse link
G CD40LG CD40 ligand ISO RGD PMID:11134274 RGD:8547770 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,711
JBrowse link
G CD8A CD8a molecule ISO mRNA:increased expression:trigeminal ganglion (mouse) RGD PMID:19151393 RGD:124715454 NCBI chr 3:57,999,228...58,029,768
Ensembl chr 3:57,998,891...58,037,130
JBrowse link
G DOCK8 dedicator of cytokinesis 8 severity ISO RGD PMID:25776845 RGD:11055046 NCBI chr 1:221,257,771...221,491,889
Ensembl chr 1:221,256,009...221,491,953
JBrowse link
G IGF2BP1 insulin like growth factor 2 mRNA binding protein 1 ISO RGD PMID:30050136 RGD:40902865 NCBI chr12:25,196,955...25,244,660
Ensembl chr12:25,196,969...25,243,272
JBrowse link
G IL18 interleukin 18 treatment ISO RGD PMID:9971824 RGD:8655923 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,966...39,873,300
JBrowse link
G IL21 interleukin 21 treatment ISO mRNA:increased expression:spleen (mouse) RGD PMID:16406655 PMID:19233474 RGD:127285367 RGD:127285372 NCBI chr 8:101,532,742...101,540,712
Ensembl chr 8:101,530,949...101,540,738
JBrowse link
G IL33 interleukin 33 ISO protein:increased expression:skin RGD PMID:26872602 RGD:39939003 NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,435...215,941,840
JBrowse link
G IRF5 interferon regulatory factor 5 susceptibility ISO associated with multiple sclerosis;DNA:SNP: :rs3807306 (human) RGD PMID:20861862 RGD:40924643 NCBI chr18:19,678,377...19,691,154
Ensembl chr18:19,678,686...19,691,154
JBrowse link
G MBL2 mannose binding lectin 2 disease_progression
susceptibility
ISO DNA:polymorphism:cds: RGD PMID:15498041 PMID:19480845 RGD:8693725 RGD:8693727 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,894...97,108,936
JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10729168 NCBI chr 9:46,823,552...46,891,564
Ensembl chr 9:46,789,726...46,891,233
JBrowse link
G NECTIN2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10729168 PMID:11602758 PMID:30319691 NCBI chr 6:51,317,386...51,358,665 JBrowse link
G PCD1B CD1B antigen exacerbates ISO RGD PMID:18614643 RGD:127345112 NCBI chr 4:92,035,122...92,040,724 JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 exacerbates ISO RGD PMID:25316792 PMID:30050136 RGD:127229943 RGD:40902865 NCBI chr 7:74,951,145...74,955,255
Ensembl chr 7:74,951,060...74,955,192
JBrowse link
G RPL30 ribosomal protein L30 ISO protein:increased serine phosphorylation:ribosome RGD PMID:7588575 RGD:11039399 NCBI chr 4:38,702,220...38,720,420
Ensembl chr 4:38,701,720...38,720,780
JBrowse link
Herpes Simplex Encephalitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOE apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:11118260 RGD:7771554 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,259...51,377,794
JBrowse link
G AQP4 aquaporin 4 ISO RGD PMID:17454447 RGD:8698664 NCBI chr 6:111,407,632...111,422,169
Ensembl chr 6:111,400,794...111,422,042
JBrowse link
G CALCB calcitonin-related polypeptide beta treatment ISO RGD PMID:22761571 RGD:7240516 NCBI chr 2:44,043,135...44,048,651 JBrowse link
G CALCR calcitonin receptor treatment ISO RGD PMID:22761571 RGD:7240516 NCBI chr 9:73,279,874...73,403,516
Ensembl chr 9:73,279,911...73,403,434
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO RGD PMID:22377584 RGD:8661752 NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,251,959...29,376,346
JBrowse link
G CCR5 chemokine (C-C motif) receptor 5 ISO RGD PMID:23391218 RGD:8551839 NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,902
JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 ISO RGD PMID:22377584 RGD:8661752 NCBI chr13:23,944,386...23,957,567
Ensembl chr13:23,944,369...23,957,486
JBrowse link
G GDNF glial cell derived neurotrophic factor ISO mRNA:increased expression:brain: RGD PMID:15950786 RGD:8657070 NCBI chr16:22,936,602...22,965,929
Ensembl chr16:22,936,601...22,965,886
JBrowse link
G IL1RL1 interleukin 1 receptor like 1 severity ISO RGD PMID:26872602 RGD:39939003 NCBI chr 3:51,868,549...51,902,454
Ensembl chr 3:51,803,165...51,951,383
JBrowse link
G IRF3 interferon regulatory factor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:54,701,733...54,706,079
Ensembl chr 6:54,701,668...54,707,151
JBrowse link
G LTA lymphotoxin alpha ISO RGD PMID:11145686 RGD:8548806 NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,039...23,698,302
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:increased activity:brain RGD PMID:15364410 RGD:8547868 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,594...30,086,982
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO protein:increased activity:brain RGD PMID:15364410 PMID:20483026 RGD:8547867 RGD:8547868 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G STAT4 signal transducer and activator of transcription 4 susceptibility ISO RGD PMID:17266445 RGD:8661706 NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,653,861...95,763,448
JBrowse link
G TICAM1 toll like receptor adaptor molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:74,004,566...74,021,100
Ensembl chr 2:74,004,550...74,021,094
JBrowse link
G TLR2 toll like receptor 2 disease_progression ISO RGD PMID:14739339 PMID:20806060 RGD:5130178 RGD:8553026 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,991...75,446,850
JBrowse link
G TLR3 toll like receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:46,966,262...46,977,774
Ensembl chr15:46,966,040...47,058,734
JBrowse link
G TLR4 toll like receptor 4 ISO RGD PMID:20806060 RGD:5130178 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,059,004
JBrowse link
G TLR9 toll like receptor 9 resistance ISO mRNA:increased expression:cheek (rat) RGD PMID:20806060 RGD:5130178 NCBI chr13:34,353,444...34,370,990 JBrowse link
G TRAF3 TNF receptor associated factor 3 ISO CTD Direct Evidence: marker/mechanism CTD
G UNC93B1 unc-93 homolog B1, TLR signaling regulator ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:4,898,414...4,909,833
Ensembl chr 2:4,855,425...4,909,860
JBrowse link
Herpes Simplex Encephalitis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TLR3 toll like receptor 3 ISO ClinVar Annotator: match by term: Herpes simplex encephalitis 1
ClinVar Annotator: match by term: HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 1
ClinVar PMID:9536098 PMID:17434873 PMID:17576681 PMID:17872438 PMID:19625408 More... NCBI chr15:46,966,262...46,977,774
Ensembl chr15:46,966,040...47,058,734
JBrowse link
G UNC93B1 unc-93 homolog B1, TLR signaling regulator susceptibility ISO ClinVar Annotator: match by term: Herpes simplex encephalitis 1 OMIM
ClinVar
PMID:9536098 PMID:16973841 PMID:17576681 PMID:24033266 PMID:25741868 More... NCBI chr 2:4,898,414...4,909,833
Ensembl chr 2:4,855,425...4,909,860
JBrowse link
Herpes Simplex Encephalitis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMN amnion associated transmembrane protein ISO ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar PMID:28492532
G TRAF3 TNF receptor associated factor 3 susceptibility ISO ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:28492532 PMID:31681265
Herpes Simplex Encephalitis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TICAM1 toll like receptor adaptor molecule 1 susceptibility ISO ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 4 OMIM
ClinVar
PMID:22105173 PMID:24033266 PMID:25741868 PMID:26513235 PMID:28492532 NCBI chr 2:74,004,566...74,021,100
Ensembl chr 2:74,004,550...74,021,094
JBrowse link
Herpes Simplex Encephalitis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IRF3 interferon regulatory factor 3 susceptibility ISO ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 7 OMIM
ClinVar
PMID:26216125 PMID:26513235 PMID:28492532 NCBI chr 6:54,701,733...54,706,079
Ensembl chr 6:54,701,668...54,707,151
JBrowse link
herpes simplex virus keratitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOE apolipoprotein E treatment ISO RGD PMID:18515564 RGD:7771550 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,259...51,377,794
JBrowse link
G ATM ATM serine/threonine kinase ameliorates ISO RGD PMID:24370835 RGD:126781690 NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,554
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 severity ISO associated with Herpes Simplex, Type 1 RGD PMID:16997857 RGD:8548890 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G CCL20 C-C motif chemokine ligand 20 ISO RGD PMID:15287366 RGD:7483593 NCBI chr15:129,172,743...129,176,069 JBrowse link
G CCR5 chemokine (C-C motif) receptor 5 ISO RGD PMID:16476970 PMID:18798077 RGD:8551819 RGD:8551837 NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,902
JBrowse link
G CCR6 C-C motif chemokine receptor 6 ISO RGD PMID:15287366 RGD:7483593 NCBI chr 1:2,016,600...2,034,172
Ensembl chr 1:2,018,608...2,019,821
JBrowse link
G CD274 CD274 molecule ISO RGD PMID:16253242 RGD:41410794 NCBI chr 1:216,646,378...216,792,731
Ensembl chr 1:216,660,047...216,792,724
JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO RGD PMID:18798077 RGD:8551819 NCBI chr  X:57,592,032...57,595,706
Ensembl chr  X:57,592,038...57,595,692
JBrowse link
G EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 treatment ISO RGD PMID:15670795 RGD:40902819 NCBI chr 3:103,041,029...103,096,741
Ensembl chr 3:103,041,224...103,096,738
JBrowse link
G IFNB1 interferon beta 1 treatment ISO RGD PMID:15670795 RGD:40902819 NCBI chr 1:201,850,935...201,851,495
Ensembl chr 1:201,850,935...201,851,495
JBrowse link
G IFNG interferon gamma ISO RGD PMID:12162877 RGD:8157603 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,848...32,482,752
JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:22467659 RGD:7364834 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
JBrowse link
G IL1RN interleukin 1 receptor antagonist treatment ISO human protein in a mouse model RGD PMID:15258192 RGD:8549793
G IL21 interleukin 21 treatment ISO RGD PMID:21204603 PMID:29370719 RGD:127285376 RGD:127285545 NCBI chr 8:101,532,742...101,540,712
Ensembl chr 8:101,530,949...101,540,738
JBrowse link
G IL23A interleukin 23 subunit alpha ISO mRNA;increased expression:trigeminal ganglion (mouse) RGD PMID:12162874 RGD:39457946 NCBI chr 5:21,732,416...21,733,981
Ensembl chr 5:21,732,165...21,734,267
JBrowse link
G KDR kinase insert domain receptor treatment ISO protein:increased expression:cornea: RGD PMID:16951377 RGD:8549742 NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,116...41,856,339
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO mRNA:increased expression:cornea RGD PMID:10624423 RGD:7401196
G RNASEL ribonuclease L treatment ISO RGD PMID:15670795 RGD:40902819 NCBI chr 9:123,895,045...123,910,386
Ensembl chr 9:123,893,306...123,910,432
JBrowse link
G STAT4 signal transducer and activator of transcription 4 susceptibility ISO RGD PMID:17266445 RGD:8661706 NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,653,861...95,763,448
JBrowse link
G TLR2 toll like receptor 2 ISO RGD PMID:17686871 RGD:7794851 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,991...75,446,850
JBrowse link
G TLR4 toll like receptor 4 ISO mRNA:increased expression:cornea: RGD PMID:17667620 PMID:17686871 RGD:7794851 RGD:8552970 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,059,004
JBrowse link
G TLR9 toll like receptor 9 ISO RGD PMID:17686871 RGD:7794851 NCBI chr13:34,353,444...34,370,990 JBrowse link
G TNF tumor necrosis factor ISO mRNA:increased expression:cornea RGD PMID:10624423 PMID:12162877 RGD:7401196 RGD:8157603 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
hidradenitis suppurativa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD163 CD163 molecule ISO protein:increased expression:dermis (human) RGD PMID:29603182 RGD:127285799 NCBI chr 5:63,300,200...63,334,497
Ensembl chr 5:63,300,146...63,334,498
JBrowse link
G GJB2 gap junction protein beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16172043 NCBI chr11:774,090...781,252 JBrowse link
G IL17D interleukin 17D sexual_dimorphism ISO mRNA:increased expression:apocrine gland (human) RGD PMID:32031713 RGD:40903066 NCBI chr11:1,029,219...1,066,086
Ensembl chr11:1,029,308...1,066,085
JBrowse link
G LCN2 lipocalin 2 disease_progression ISO RGD PMID:28256718 RGD:126781708 NCBI chr 1:268,609,975...268,614,651 JBrowse link
G MEFV MEFV innate immuity regulator, pyrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr 3:38,934,573...38,948,609 JBrowse link
G NLRP3 NLR family pyrin domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr 2:56,892,241...56,977,412
Ensembl chr 2:56,892,242...56,977,234
JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534
JBrowse link
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr 7:57,100,212...57,145,278
Ensembl chr 7:57,102,756...57,146,754
JBrowse link
G TNF tumor necrosis factor ISO DNA:polymorphism,haplotype:promoter:-238G>A(human) RGD PMID:23106544 RGD:7777155 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
immunodeficiency 31C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL21R interleukin 21 receptor ISO ClinVar Annotator: match by term: Immunodeficiency 31C ClinVar PMID:25741868 NCBI chr 3:19,447,488...19,489,201
Ensembl chr 3:19,443,344...19,489,152
JBrowse link
G STAT1 signal transducer and activator of transcription 1 ISO OMIM NCBI chr15:95,593,201...95,646,324
Ensembl chr15:95,593,211...95,646,260
JBrowse link
immunodeficiency 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL17RA interleukin 17 receptor A ISO OMIM NCBI chr 5:69,461,280...69,480,343
Ensembl chr 5:69,461,290...69,480,112
JBrowse link
Immunodeficiency 83 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TLR3 toll like receptor 3 susceptibility ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 83, SUSCEPTIBILITY TO VIRAL INFECTIONS
ClinVar Annotator: match by term: HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 2
OMIM
ClinVar
PMID:17872438 PMID:19625408 PMID:20472559 PMID:20855885 PMID:21911422 More... NCBI chr15:46,966,262...46,977,774
Ensembl chr15:46,966,040...47,058,734
JBrowse link
invasive aspergillosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGER advanced glycosylation end-product specific receptor ISO RGD PMID:21423669 RGD:5508765 NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,116...24,228,756
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 severity ISO RGD PMID:11160230 RGD:11528533 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G CCL20 C-C motif chemokine ligand 20 ISO protein:increased expression:lung RGD PMID:20926800 RGD:7483599 NCBI chr15:129,172,743...129,176,069 JBrowse link
G CCR6 C-C motif chemokine receptor 6 disease_progression ISO RGD PMID:17379855 RGD:7483617 NCBI chr 1:2,016,600...2,034,172
Ensembl chr 1:2,018,608...2,019,821
JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO RGD PMID:17298426 RGD:5135501 NCBI chr  X:57,592,032...57,595,706
Ensembl chr  X:57,592,038...57,595,692
JBrowse link
G CYP2C49 cytochrome P450 2C49 treatment ISO DNA:polymorphisms:cds: RGD PMID:26861072 RGD:124713410 NCBI chr14:106,571,803...106,612,082 JBrowse link
G ELANE elastase, neutrophil expressed ISO RGD PMID:24054721 RGD:10450528 NCBI chr 2:77,513,769...77,516,118
Ensembl chr 2:77,509,344...77,516,027
JBrowse link
G GP91-PHOX NADPH oxidase heavy chain subunit ISO RGD PMID:24054721 RGD:10450528 NCBI chr  X:33,654,656...33,678,346
Ensembl chr  X:33,642,015...33,680,580
JBrowse link
G IL17A interleukin 17A severity ISO RGD PMID:21807912 RGD:8698654 NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
JBrowse link
G MBL2 mannose binding lectin 2 ISO DNA:SNP:exon:rs5030737(human) RGD PMID:17311505 RGD:8693758 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,894...97,108,936
JBrowse link
G PTX3 pentraxin 3 severity ISO DNA:SNPs, missense mutation:intron, cds:rs2305619, rs1840680, rs3816527
protein:increased expression:bronchoalveolar lavage fluid (human)
RGD PMID:28487045 PMID:30275011 RGD:38501097 RGD:38508892 NCBI chr13:97,273,594...97,279,570
Ensembl chr13:97,273,594...97,279,569
JBrowse link
G S100B S100 calcium binding protein B ISO RGD PMID:21423669 RGD:5508765
G TLR2 toll like receptor 2 ISO RGD PMID:16113258 RGD:8553022 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,991...75,446,850
JBrowse link
G TLR4 toll like receptor 4 susceptibility ISO DNA:polymorphism:exon:p.D299G(human) RGD PMID:18275280 RGD:5130863 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,059,004
JBrowse link
Invasive Pulmonary Aspergillosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL2 chemokine (C-C motif) ligand 2 treatment ISO RGD PMID:12917249 RGD:11528529 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G CD209 CD209 molecule susceptibility ISO DNA:SNPs:3'utr,intron:multiple RGD PMID:22384201 RGD:39938996 NCBI chr 2:71,394,414...71,397,711
Ensembl chr 2:71,394,390...71,397,969
JBrowse link
G FGF2 fibroblast growth factor 2 treatment ISO RGD PMID:23303813 RGD:8655596 NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,878...101,343,916
JBrowse link
G IL1A interleukin 1 alpha ISO DNA:polymorphism, haplotype:promoter:-889C>T (human) RGD PMID:18484169 RGD:4142867 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
JBrowse link
G ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 ISO protein:increased expression:respiratory system fluid/secretion, serum RGD PMID:24360996 RGD:40903005 NCBI chr13:34,928,455...34,948,250
Ensembl chr13:34,915,855...34,948,229
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO DNA:polymorphism, haplotype: :-511C>T (human) RGD PMID:18484169 RGD:4142867
G MBL2 mannose binding lectin 2 treatment ISO RGD PMID:17335555 RGD:8693746 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,894...97,108,936
JBrowse link
G PTX3 pentraxin 3 susceptibility
no_association
ISO protein:increased expression:bronchoalveolar lavage fluid, plasma (human)
DNA:SNP:intron:rs1840680 (human)
protein:increased expression:plasma
DNA:SNP, missense mutation:intron, cds:rs2305619, rs3816527
RGD PMID:29020397 PMID:29964232 RGD:38501098 RGD:38508894 NCBI chr13:97,273,594...97,279,570
Ensembl chr13:97,273,594...97,279,569
JBrowse link
G VEGFA vascular endothelial growth factor A treatment ISO RGD PMID:23303813 RGD:8655596 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,038
JBrowse link
leishmaniasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGER advanced glycosylation end-product specific receptor ISO protein:increased expression:brain RGD PMID:25014011 RGD:8695986 NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,116...24,228,756
JBrowse link
G ARG1 arginase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21232540 NCBI chr 1:32,006,035...32,028,983
Ensembl chr 1:32,006,038...32,028,986
JBrowse link
G BTK Bruton tyrosine kinase susceptibility ISO RGD PMID:28783468 RGD:124715477 NCBI chr  X:82,981,512...83,014,475
Ensembl chr  X:82,981,515...83,014,573
JBrowse link
G C3 complement C3 ISO RGD PMID:15378355 RGD:7401274 NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,499...72,528,112
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO RGD PMID:10899907 RGD:8661227 NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,251,959...29,376,346
JBrowse link
G CCR5 chemokine (C-C motif) receptor 5 disease_progression ISO associated with HIV Infections;protein:increased expression:blood, T cell RGD PMID:10553079 PMID:17457607 RGD:8551832 RGD:8551841 NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,902
JBrowse link
G CRP C-reactive protein, pentraxin-related ISO CTD Direct Evidence: marker/mechanism CTD PMID:17218153 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,722,352...90,805,236
JBrowse link
G DUSP1 dual specificity phosphatase 1 treatment ISO RGD PMID:21471446 RGD:7771536 NCBI chr16:51,457,924...51,461,095
Ensembl chr16:51,458,020...51,461,086
JBrowse link
G DUSP6 dual specificity phosphatase 6 treatment ISO RGD PMID:21471446 RGD:7771536 NCBI chr 5:93,303,058...93,307,510
Ensembl chr 5:93,302,975...93,307,504
JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:2145107 PMID:16540374 PMID:17218153 RGD:7829781 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,848...32,482,752
JBrowse link
G IL10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16540374 PMID:20404924 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
JBrowse link
G IL18 interleukin 18 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:10768930 PMID:16879623 RGD:8655909 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,966...39,873,300
JBrowse link
G IL2 interleukin 2 ISO RGD PMID:6224858 RGD:8693326 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
JBrowse link
G IL21 interleukin 21 exacerbates ISO protein:increased expression:popliteal lymph node (mouse) RGD PMID:22429963 RGD:127285547 NCBI chr 8:101,532,742...101,540,712
Ensembl chr 8:101,530,949...101,540,738
JBrowse link
G IL27 interleukin 27 exacerbates ISO RGD PMID:25466588 RGD:126790552 NCBI chr 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915
JBrowse link
G IL4 interleukin 4 treatment ISO protein:increased expression:serum RGD PMID:2145107 PMID:2521244 RGD:7829781 RGD:7829820 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16540374 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G ITGB2 integrin subunit beta 2 ameliorates ISO RGD PMID:14502280 RGD:127285813 NCBI chr13:207,514,281...207,544,108
Ensembl chr13:207,512,954...207,544,108
JBrowse link
G MCL1 MCL1 apoptosis regulator, BCL2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:26670606 NCBI chr 4:98,562,092...98,567,014
Ensembl chr 4:98,527,907...98,567,006
JBrowse link
G SLC6A4 solute carrier family 6 member 4 ISO lupoid leishmaniasis;protein:increased expression:skin of body (human) RGD PMID:23989888 RGD:36947873 NCBI chr12:46,285,995...46,328,377
Ensembl chr12:46,285,997...46,314,378
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16540374 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20139272 NCBI chr 6:63,516,037...63,519,323 JBrowse link
G TNFSF4 TNF superfamily member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10637281 NCBI chr 9:115,535,185...115,857,457
Ensembl chr 9:115,550,567...115,857,448
JBrowse link
G TREM1 triggering receptor expressed on myeloid cells 1 severity ISO RGD PMID:24453980 RGD:126925972 NCBI chr 7:36,510,253...36,531,796
Ensembl chr 7:36,510,253...36,531,796
JBrowse link
G VDR vitamin D receptor ISO RGD PMID:17551101 RGD:8158083 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,267,321
JBrowse link
mite infestation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TLR2 toll like receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29253318 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,991...75,446,850
JBrowse link
molluscum contagiosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TLR2 toll like receptor 2 ISO protein:increased expression,altered expression:cytoplasm,membrane, nucleus: RGD PMID:24617037 RGD:8553046 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,991...75,446,850
JBrowse link
mucocutaneous leishmaniasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFNG interferon gamma ISO CTD Direct Evidence: therapeutic CTD PMID:7854095 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,848...32,482,752
JBrowse link
G LTA lymphotoxin alpha ISO DNA:polymorphism:intron RGD PMID:7595196 RGD:8548799 NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,039...23,698,302
JBrowse link
G TNF tumor necrosis factor ISO DNA:SNP:promoter:-308G>A (human) RGD PMID:7595196 RGD:8548799 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
MUCOCUTANEOUS ULCERATION, CHRONIC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RELA RELA proto-oncogene, NF-kB subunit ISO OMIM NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,471
JBrowse link
onchocerciasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL13 interleukin 13 severity ISO protein:increased expression:serum RGD PMID:22805723 RGD:8549600 NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093
JBrowse link
Onchocerciasis, Ocular term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1R1 interleukin 1 receptor type 1 ISO RGD PMID:19168746 RGD:8662882 NCBI chr 3:52,192,912...52,334,734
Ensembl chr 3:52,192,914...52,288,515
JBrowse link
G TLR4 toll like receptor 4 ISO RGD PMID:11884755 RGD:7794682 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,059,004
JBrowse link
paracoccidioidomycosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCR5 chemokine (C-C motif) receptor 5 ISO RGD PMID:18292527 RGD:4892087 NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,902
JBrowse link
G CD28 CD28 molecule ISO RGD PMID:20713624 RGD:5131616 NCBI chr15:107,128,103...107,155,431
Ensembl chr15:107,128,208...107,162,943
JBrowse link
G CFB complement factor B ISO RGD PMID:7921333 RGD:7421526 NCBI chr 7:24,034,077...24,040,523 JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO RGD PMID:17003484 RGD:8547589 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
JBrowse link
G IDO1 indoleamine 2,3-dioxygenase 1 ISO mRNA, protein:decreased expression, decreased activity:lung,plasmacytoid dendritic cell (mouse) RGD PMID:27992577 RGD:39939072 NCBI chr17:9,245,283...9,260,140
Ensembl chr17:9,245,196...9,260,491
JBrowse link
G IL18 interleukin 18 treatment ISO RGD PMID:28992214 RGD:39938858 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,966...39,873,300
JBrowse link
G IL1RL1 interleukin 1 receptor like 1 treatment ISO RGD PMID:28992214 RGD:39938858 NCBI chr 3:51,868,549...51,902,454
Ensembl chr 3:51,803,165...51,951,383
JBrowse link
G IL33 interleukin 33 treatment ISO RGD PMID:28992214 RGD:39938858 NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,435...215,941,840
JBrowse link
G LOC110258578 interleukin-1 beta-like treatment ISO RGD PMID:28992214 RGD:39938858
G MMP2 matrix metallopeptidase 2 ISO RGD PMID:19765107 RGD:8657058 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,594...30,086,982
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:19765107 RGD:8657058 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G TNF tumor necrosis factor susceptibility ISO DNA:SNP:promoter:−308G>A(human) RGD PMID:17145373 RGD:7401182 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
pulmonary aspergilloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTX3 pentraxin 3 ISO protein:increased expression:bronchoalveolar lavage fluid, plasma (human) RGD PMID:29964232 RGD:38508894 NCBI chr13:97,273,594...97,279,570
Ensembl chr13:97,273,594...97,279,569
JBrowse link
scabies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAT catalase treatment ISO RGD PMID:17884035 RGD:9479747 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
JBrowse link
skin papilloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL20 C-C motif chemokine ligand 20 ISO protein:decreased expression:skin RGD PMID:21715145 RGD:7483622 NCBI chr15:129,172,743...129,176,069 JBrowse link
G CLU clusterin ISO RGD PMID:11085517 RGD:8746700 NCBI chr14:11,336,585...11,352,569
Ensembl chr14:11,336,590...11,352,475
JBrowse link
G FGF10 fibroblast growth factor 10 ISO protein:increased expression:skin (mouse) RGD PMID:24582960 RGD:126928134 NCBI chr16:28,695,465...28,779,953
Ensembl chr16:28,695,469...28,777,541
JBrowse link
G MIR21 microRNA mir-21 ameliorates ISO RGD PMID:21646541 RGD:41404663 NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358
JBrowse link
G NRG1 neuregulin 1 ISO DNA:hypermethylation: RGD PMID:31892232 RGD:39456089 NCBI chr15:52,625,550...53,688,003
Ensembl chr15:52,627,334...53,688,332
JBrowse link
G TLR2 toll like receptor 2 ISO protein:increased expression,altered expression:cytoplasm,membrane, nucleus: RGD PMID:24617037 RGD:8553046 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,991...75,446,850
JBrowse link
smallpox term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IRF1 interferon regulatory factor 1 treatment ISO DNA:SNPs,haplotype: :rs839, rs9282763(human) RGD PMID:18454680 RGD:42722608 NCBI chr 2:134,776,122...134,783,646
Ensembl chr 2:134,776,134...134,783,646
JBrowse link
G MTHFR methylenetetrahydrofolate reductase treatment ISO DNA:SNP:exon:rs1801133(human) RGD PMID:18454680 RGD:42722608 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,636...71,881,820
JBrowse link
sporotrichosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TLR4 toll like receptor 4 ISO RGD PMID:19740386 RGD:7794681 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,059,004
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 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
JBrowse link
G IL18 interleukin 18 treatment ISO RGD PMID:21536791 RGD:8655921 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,966...39,873,300
JBrowse link
G IL33 interleukin 33 treatment ISO mRNA,protein:increased expression:skin RGD PMID:23892028 RGD:40400893 NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,435...215,941,840
JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 ameliorates ISO RGD PMID:27524612 RGD:127229915 NCBI chr 7:74,951,145...74,955,255
Ensembl chr 7:74,951,060...74,955,192
JBrowse link
G SERPINF1 serpin family F member 1 severity ISO RGD PMID:25515118 RGD:36174009 NCBI chr12:47,949,004...47,959,471
Ensembl chr12:47,943,051...47,959,472
JBrowse link
strongyloidiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL18 interleukin 18 treatment ISO RGD PMID:16129701 RGD:8655932 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,966...39,873,300
JBrowse link
G IL5 interleukin 5 severity ISO RGD PMID:9824515 RGD:11354934 NCBI chr 2:134,832,143...134,846,141
Ensembl chr 2:134,832,147...134,835,212
JBrowse link
tick infestation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1A interleukin 1 alpha ISO RGD PMID:7835923 RGD:7794724 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
JBrowse link
Toxocara Canis Infection (Canine Roundworms) term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL11 chemokine (C-C motif) ligand 11 ISO protein:increased expression:plasma, respiratory system fluid/secretion RGD PMID:16168564 RGD:7248410 NCBI chr12:40,779,906...40,782,862
Ensembl chr12:40,779,173...40,782,893
JBrowse link
toxocariasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL4 interleukin 4 treatment ISO RGD PMID:26732352 RGD:11534298 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
JBrowse link
G OLIG2 oligodendrocyte transcription factor 2 ISO RGD PMID:25773181 RGD:40902825 NCBI chr13:196,596,838...196,602,197
Ensembl chr13:196,599,822...196,600,793
JBrowse link
visceral leishmaniasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AICDA activation induced cytidine deaminase ISO mRNA:altered expression:Bcell,CD4Tcell RGD PMID:31001826 RGD:32716386 NCBI chr 5:62,777,236...62,787,342
Ensembl chr 5:62,777,352...62,787,483
JBrowse link
G CCL4 C-C motif chemokine ligand 4 ISO protein:increased expression:serum RGD PMID:21991751 RGD:5683905 NCBI chr12:39,479,190...39,480,511
Ensembl chr12:39,478,885...39,557,358
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO RGD PMID:24818662 RGD:8661728 NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,251,959...29,376,346
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO protein:increased expression:blood, T cell RGD PMID:15379987 RGD:6893393 NCBI chr13:29,251,950...29,286,470
Ensembl chr13:29,251,959...29,376,346
JBrowse link
G CCR5 chemokine (C-C motif) receptor 5 treatment ISO RGD PMID:24617012 RGD:14401738 NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,902
JBrowse link
G CD163 CD163 molecule exacerbates ISO protein:increased expression:blood serum (human) RGD PMID:28355218 RGD:127345133 NCBI chr 5:63,300,200...63,334,497
Ensembl chr 5:63,300,146...63,334,498
JBrowse link
G CD40 CD40 molecule treatment ISO RGD PMID:14573667 RGD:8547750 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
JBrowse link
G CD40LG CD40 ligand ISO RGD PMID:14573667 RGD:8547750 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,711
JBrowse link
G CRP C-reactive protein, pentraxin-related ISO CTD Direct Evidence: marker/mechanism CTD PMID:10467834 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,722,352...90,805,236
JBrowse link
G CSF2 colony stimulating factor 2 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:8035028 PMID:17404324 RGD:10449527 NCBI chr 2:134,354,724...134,357,155
Ensembl chr 2:134,354,724...134,357,155
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO mRNA:increased expression:liver RGD PMID:16239557 RGD:27095947 NCBI chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 treatment
susceptibility
ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:promoter:g.-251A>T (human)
CTD
RGD
PMID:22461696 PMID:25821028 PMID:32984951 RGD:150523789 RGD:150523791 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
JBrowse link
G HMOX1 heme oxygenase 1 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:22461696 PMID:23729024 RGD:42724459
G IFNG interferon gamma treatment ISO CTD Direct Evidence: therapeutic CTD
RGD
PMID:1901333 PMID:3104456 PMID:7854095 PMID:27999013 RGD:40890273 RGD:8158041 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,848...32,482,752
JBrowse link
G IL10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15716043 PMID:17404324 PMID:22461696 PMID:29745990 RGD:14975172 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
JBrowse link
G IL10RA interleukin 10 receptor subunit alpha ISO CTD Direct Evidence: therapeutic CTD PMID:15716043 NCBI chr 9:45,310,527...45,324,557
Ensembl chr 9:45,310,553...45,389,323
JBrowse link
G IL18 interleukin 18 susceptibility ISO RGD PMID:16879623 RGD:8655922 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,966...39,873,300
JBrowse link
G IL27 interleukin 27 ISO mRNA, protein:increased expression:spleen, liver (mouse) RGD PMID:27245409 RGD:126790520 NCBI chr 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915
JBrowse link
G IL2RB interleukin 2 receptor subunit beta susceptibility ISO DNA:polymorphisms:exon:8777, 8838(human) RGD PMID:17108990 RGD:42724466 NCBI chr 5:10,610,094...10,650,315 JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7554475 PMID:17404324 PMID:22461696 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G IRF5 interferon regulatory factor 5 ISO protein:increased expression:CD4 T cell, nucleus RGD PMID:30067973 PMID:32038622 RGD:40924560 RGD:40924629 NCBI chr18:19,678,377...19,691,154
Ensembl chr18:19,678,686...19,691,154
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:17404324
G LTA lymphotoxin alpha severity ISO DNA:polymorphisms RGD PMID:12438370 PMID:15579454 RGD:8548784 RGD:8548789 NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,039...23,698,302
JBrowse link
G LTB lymphotoxin beta ISO RGD PMID:12115620 RGD:8548822 NCBI chr 7:23,704,842...23,707,036 JBrowse link
G MBL2 mannose binding lectin 2 susceptibility
disease_progression
ISO DNA:SNPs,haplotype:promoter,exon:
DNA:polymorphism:promoter:
protein:increased expression:serum:
RGD PMID:17357060 PMID:22995279 PMID:26297290 RGD:11522692 RGD:8693721 RGD:8693726 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,894...97,108,936
JBrowse link
G MIR155 microRNA mir-155 ISO RGD PMID:31182615 RGD:21081525 NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902
JBrowse link
G MIR21 microRNA mir-21 treatment ISO RGD PMID:31608064 RGD:40925951 NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358
JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 treatment ISO RGD PMID:23729024 RGD:42724459 NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,648...83,146,183
JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta treatment ISO RGD PMID:27999013 RGD:40890273 NCBI chr 6:70,026,254...70,086,950
Ensembl chr 6:70,026,373...70,099,244
JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16597321 PMID:17067929 RGD:5684944 NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396
JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO RGD PMID:24242758 RGD:8661696 NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,653,861...95,763,448
JBrowse link
G TLR2 toll like receptor 2 disease_progression ISO RGD PMID:23589575 RGD:15090808 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,991...75,446,850
JBrowse link
G TNF tumor necrosis factor severity ISO DNA:polymorphisms
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:1901333 PMID:12438370 PMID:15579454 PMID:22461696 RGD:8548784 RGD:8548789 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
WHIM syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXCR4 C-X-C motif chemokine receptor 4 ISO OMIM NCBI chr15:15,663,652...15,666,706
Ensembl chr15:15,663,494...15,667,233
JBrowse link
G DARS1 aspartyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr15:15,810,497...15,885,706
Ensembl chr15:15,810,628...15,885,706
JBrowse link
X-linked chronic granulomatous disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYBA cytochrome b-245 alpha chain ISO ClinVar Annotator: match by term: Chronic granulomatous disease, X-linked ClinVar PMID:28492532 NCBI chr 6:1,015,212...1,021,422
Ensembl chr 6:1,015,154...1,021,418
JBrowse link
G DYNLT3 dynein light chain Tctex-type 3 ISO ClinVar Annotator: match by term: Chronic granulomatous disease, X-linked ClinVar PMID:22929960 PMID:27701760 PMID:28492532 NCBI chr  X:33,711,993...33,724,596
Ensembl chr  X:33,711,491...33,724,683
JBrowse link
G GP91-PHOX NADPH oxidase heavy chain subunit treatment ISO OMIM
RGD
PMID:12804147 RGD:11040567 NCBI chr  X:33,654,656...33,678,346
Ensembl chr  X:33,642,015...33,680,580
JBrowse link
G HYPM huntingtin interacting protein M ISO ClinVar Annotator: match by term: Chronic granulomatous disease, X-linked ClinVar PMID:22929960 PMID:27701760 PMID:28492532 NCBI chr  X:33,889,233...33,890,290 JBrowse link
G OTC ornithine transcarbamylase ISO ClinVar Annotator: match by term: Chronic granulomatous disease, X-linked ClinVar PMID:22929960 PMID:27701760 PMID:28492532 NCBI chr  X:34,322,398...34,391,711
Ensembl chr  X:34,322,298...34,391,837
JBrowse link
G RPGR retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Chronic granulomatous disease, X-linked ClinVar PMID:22929960 PMID:27701760 PMID:28492532 NCBI chr  X:34,238,961...34,522,814
Ensembl chr  X:34,228,124...34,296,589
JBrowse link
G SRPX sushi repeat containing protein X-linked ISO ClinVar Annotator: match by term: Chronic granulomatous disease, X-linked ClinVar PMID:22929960 PMID:27701760 PMID:28492532 NCBI chr  X:34,075,577...34,198,462
Ensembl chr  X:34,075,577...34,198,467
JBrowse link
G SYTL5 synaptotagmin like 5 ISO ClinVar Annotator: match by term: Chronic granulomatous disease, X-linked ClinVar PMID:22929960 PMID:27701760 PMID:28492532 NCBI chr  X:33,798,296...34,066,127
Ensembl chr  X:33,687,031...34,036,269
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13702
    sensory system disease 5181
      skin disease 2715
        Infectious Skin Diseases 233
          Bacterial Skin Diseases + 22
          Parasitic Skin Diseases + 69
          Viral Skin Diseases + 88
          cellulitis + 44
          dermatomycosis + 83
          paronychia 0
Path 2
Term Annotations click to browse term
  disease 13702
    disease of anatomical entity 13375
      nervous system disease 11022
        sensory system disease 5181
          skin disease 2715
            Infectious Skin Diseases 233
              Bacterial Skin Diseases + 22
              Parasitic Skin Diseases + 69
              Viral Skin Diseases + 88
              cellulitis + 44
              dermatomycosis + 83
              paronychia 0
paths to the root