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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 chr19:10,619,220...10,620,671
Ensembl chr19:10,619,220...10,620,671
JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO RGD PMID:15951834 RGD:5688155 NCBI chr 8:132,996,646...133,002,201
Ensembl chr 8:132,996,649...133,002,201
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO RGD PMID:10946288 RGD:8661731
G Cftr CF transmembrane conductance regulator ISO DNA:mutations: : RGD PMID:11243954 RGD:4140482 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO RGD PMID:7743671 RGD:8547590 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Il1a interleukin 1 alpha ISO RGD PMID:8699818 RGD:7794730 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
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 chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO associated with cystic fibrosis; DNA:polymorphisms: :DQB1*06:02, DQB1*02:01(human) RGD PMID:23278646 RGD:36049760 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO associated with cystic fibrosis; DNA:polymorphisms: : RGD PMID:23278646 RGD:36049760 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Tlr9 toll-like receptor 9 susceptibility ISO DNA:SNP:promoter:g.-1237T>C rs5743836 (human) RGD PMID:18275280, PMID:18936185 RGD:5130863, RGD:5130858 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:8699818 RGD:7794730 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
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 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
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 chr 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
JBrowse link
G Cd8a CD8a molecule ISO mRNA:decreased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr 4:99,217,640...99,243,352
Ensembl chr 4:99,239,115...99,243,351
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Foxp3 forkhead box P3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
JBrowse link
G Ifna1 interferon, alpha 1 treatment ISO RGD PMID:25774455 RGD:36174028 NCBI chr 5:106,951,822...106,952,908
Ensembl chr 5:106,952,082...106,952,792
JBrowse link
G Il10 interleukin 10 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il12b interleukin 12B treatment ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559, PMID:23754510 RGD:7829774, RGD:40400714 NCBI chr10:30,034,447...30,048,774
Ensembl chr10:30,038,709...30,048,085
JBrowse link
G Il2 interleukin 2 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il21 interleukin 21 ISO protein:decreased expression:blood serum (human) RGD PMID:31414711 RGD:127285371 NCBI chr 2:123,965,021...123,972,356
Ensembl chr 2:123,965,021...123,972,356
JBrowse link
G Il4 interleukin 4 treatment ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559, PMID:23754510 RGD:7829774, RGD:40400714 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il6 interleukin 6 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Klrk1 killer cell lectin like receptor K1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:163,392,652...163,403,735
Ensembl chr 4:163,393,217...163,403,653
JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 8:128,022,512...128,027,462
Ensembl chr 8:128,022,473...128,026,841
JBrowse link
G Ncr1 natural cytotoxicity triggering receptor 1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:73,178,917...73,226,504
Ensembl chr 1:73,179,013...73,226,777
JBrowse link
G Pdcd1 programmed cell death 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:101,305,742...101,319,937
Ensembl chr 9:101,307,764...101,319,845
Ensembl chr 9:101,307,764...101,319,845
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr 4:157,239,141...157,263,890
Ensembl chr 4:157,239,142...157,263,890
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 chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr3 toll-like receptor 3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tlr7 toll-like receptor 7 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:28,486,836...28,513,004
Ensembl chr  X:28,486,869...28,512,957
JBrowse link
G Tlr8 toll-like receptor 8 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:28,539,158...28,562,803
Ensembl chr  X:28,539,158...28,562,803
JBrowse link
G Tlr9 toll-like receptor 9 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 5:173,459,371...173,463,980
Ensembl chr 5:173,460,354...173,463,140
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 chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO associated with Neutropenia;mRNA:increased expression:lung RGD PMID:19783686 RGD:5130908 NCBI chr 5:58,181,025...58,182,969
Ensembl chr 5:58,181,026...58,183,017
JBrowse link
G Ccr7 C-C motif chemokine receptor 7 ISO associated with Neutropenia RGD PMID:19783686 RGD:5130908 NCBI chr10:87,057,335...87,067,444
Ensembl chr10:87,057,136...87,067,456
JBrowse link
G Cd209 CD209 molecule ISO RGD PMID:21381282 RGD:5131183 NCBI chr12:2,406,879...2,413,324
Ensembl chr12:2,406,879...2,413,324
JBrowse link
G Cftr CF transmembrane conductance regulator severity ISO RGD PMID:22135344 RGD:35673332 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
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
ClinVar
CTD
OMIM
PMID:29489751 NCBI chr 4:163,191,503...163,214,678
Ensembl chr 4:163,191,503...163,214,678
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
ClinVar
CTD
OMIM
PMID:19864674 PMID:20807886 PMID:24033266 NCBI chr 4:163,216,152...163,227,367
Ensembl chr 4:163,216,163...163,227,334
JBrowse link
G Crp C-reactive protein treatment ISO RGD PMID:20879853 RGD:9495929 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Il15 interleukin 15 ISO DNA:polymorphism (human) RGD PMID:16893395 RGD:4981337 NCBI chr19:23,542,606...23,624,366
Ensembl chr19:23,542,889...23,554,594
JBrowse link
G Mbl1 mannose binding lectin 1 susceptibility ISO RGD PMID:20064561 RGD:8694071 NCBI chr16:18,736,154...18,742,193
Ensembl chr16:18,736,154...18,742,193
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO RGD PMID:20064561 RGD:8694071 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G S100b S100 calcium binding protein B ISO DNA:SNP: :427C>T (human) RGD PMID:22114731 RGD:8695981 NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
JBrowse link
G Tlr1 toll-like receptor 1 susceptibility ISO DNA:SNPs: :p.R80T, p.N248S (human) RGD PMID:16461792 RGD:4889535 NCBI chr14:45,062,662...45,065,014
Ensembl chr14:45,062,662...45,081,991
JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA:increased expression:lung RGD PMID:19781388 RGD:4145322 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr6 toll-like receptor 6 susceptibility ISO DNA:SNP: :p.S249P (human) RGD PMID:16461792 RGD:4889535 NCBI chr14:45,024,351...45,041,188
Ensembl chr14:45,024,351...45,046,446
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 ClinVar Annotator: match by term: Autosomal recessive chronic granulomatous disease 5 OMIM
ClinVar
PMID:28600779 PMID:30312704 PMID:30361506 NCBI chr10:110,424,973...110,431,792
Ensembl chr10:110,424,974...110,431,792
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 chr19:55,594,801...55,635,312
Ensembl chr19:55,594,831...55,635,122
JBrowse link
G Aprt adenine phosphoribosyl transferase ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 NCBI chr19:55,387,288...55,389,256
Ensembl chr19:55,387,288...55,389,256
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 chr19:55,438,409...55,510,652
Ensembl chr19:55,441,572...55,510,460
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 chr19:55,381,565...55,386,511
Ensembl chr19:55,381,565...55,386,511
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 chr19:55,300,531...55,305,543
Ensembl chr19:55,300,395...55,305,702
JBrowse link
G Cyba cytochrome b-245 alpha chain ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar Annotator: match by OMIM:233690
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:1415254 PMID:1763037 PMID:2243141 PMID:3368442 PMID:3571224 PMID:4384563 PMID:8168815 PMID:9445163 PMID:9536098 PMID:10440830 PMID:10759707 PMID:10910929 PMID:10914676 PMID:12073015 PMID:16199547 PMID:17576681 PMID:18422995 PMID:19292887 PMID:19388116 PMID:19949658 PMID:20167518 PMID:20674832 PMID:22336310 PMID:22876374 PMID:22924696 PMID:25741868 PMID:26185101 PMID:26915675 PMID:26936803 PMID:27537055 PMID:27701760 PMID:27980538 PMID:28341171 PMID:28492532 PMID:29454792 PMID:30470980 PMID:30709874 PMID:31456102 PMID:32081864 NCBI chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876
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 chr19:55,391,004...55,423,328
Ensembl chr19:55,389,462...55,423,150
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 chr19:55,258,910...55,268,933
Ensembl chr19:55,258,905...55,268,951
JBrowse link
G Pabpn1l poly(A)binding protein nuclear 1-like ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 NCBI chr19:55,430,808...55,434,252
Ensembl chr19:55,430,810...55,434,252
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 chr19:55,305,494...55,367,680
Ensembl chr19:55,305,496...55,367,353
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 chr19:55,290,563...55,300,403
Ensembl chr19:55,290,563...55,300,403
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 chr19:55,276,211...55,290,031
Ensembl chr19:55,277,549...55,284,663
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 chr19:55,423,350...55,428,551
Ensembl chr19:55,423,350...55,427,036
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 ClinVar Annotator: match by term: p47-PHOX DEFICIENCY
ClinVar Annotator: match by term: p47-PHOX, DEFICIENCY OF
ClinVar Annotator: match by OMIM:233700
OMIM
ClinVar
PMID:742630 PMID:7678602 PMID:11133775 PMID:11433300 PMID:16972229 PMID:24446915 PMID:25741868 NCBI chr12:25,497,104...25,506,300
Ensembl chr12:25,497,104...25,506,300
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 ClinVar Annotator: match by term: Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2
ClinVar Annotator: match by term: p67-PHOX, DEFICIENCY OF
ClinVar Annotator: match by OMIM:233710
OMIM
ClinVar
PMID:7795241 PMID:8781442 PMID:9536098 PMID:10498624 PMID:10598813 PMID:11499676 PMID:16199547 PMID:16937026 PMID:17576681 PMID:18625437 PMID:19624736 PMID:20167518 PMID:21900546 PMID:23821607 PMID:24033266 PMID:24931457 PMID:25741868 PMID:25937994 PMID:28492532 PMID:30290665 NCBI chr13:70,226,441...70,259,019
Ensembl chr13:70,226,647...70,257,576
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 chr12:25,497,104...25,506,300
Ensembl chr12:25,497,104...25,506,300
JBrowse link
G Ncf4 neutrophil cytosolic factor 4 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III
ClinVar Annotator: match by OMIM:613960
OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:16880254 PMID:17576681 PMID:19692703 PMID:20167518 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29454792 PMID:29969437 PMID:31027832 NCBI chr 7:119,481,711...119,499,426
Ensembl chr 7:119,482,272...119,499,425
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 NCBI chr 3:2,648,787...2,668,770
Ensembl chr 3:2,648,885...2,668,809
JBrowse link
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 NCBI chr 3:4,044,741...4,055,384
Ensembl chr 3:4,044,542...4,055,806
JBrowse link
G Ajm1 apical junction component 1 homolog ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:2,799,032...2,806,686
Ensembl chr 3:2,800,650...2,803,574
JBrowse link
G C8g complement C8 gamma chain ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:2,724,616...2,727,616
Ensembl chr 3:2,724,616...2,727,616
JBrowse link
G Card9 caspase recruitment domain family, member 9 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2
ClinVar Annotator: match by OMIM:212050
OMIM
ClinVar
PMID:19864672 PMID:21983784 PMID:22730530 PMID:23335372 PMID:24033266 PMID:24068945 PMID:24131138 PMID:24231284 PMID:24704721 PMID:25702837 PMID:25731871 PMID:25741868 PMID:25933095 PMID:26038974 PMID:26521038 PMID:26679537 PMID:26961233 PMID:27490946 PMID:27777981 PMID:28252032 PMID:28492532 PMID:29307770 PMID:29890237 PMID:30429846 NCBI chr 3:3,798,346...3,806,841
Ensembl chr 3:3,798,347...3,806,713
JBrowse link
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 NCBI chr 3:2,832,893...2,843,050
Ensembl chr 3:2,832,847...2,841,331
JBrowse link
G Clic3 chloride intracellular channel 3 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:2,675,732...2,678,248
Ensembl chr 3:2,676,296...2,680,565
JBrowse link
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 NCBI chr 3:4,083,797...4,091,550
Ensembl chr 3:4,083,864...4,092,289
JBrowse link
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 NCBI chr 3:2,781,169...2,785,474
Ensembl chr 3:2,781,169...2,785,474
JBrowse link
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 NCBI chr 3:4,034,759...4,044,280
Ensembl chr 3:4,034,921...4,043,936
JBrowse link
G Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:2,617,795...2,623,818
Ensembl chr 3:2,617,805...2,623,445
JBrowse link
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 NCBI chr 3:3,827,498...3,834,219
Ensembl chr 3:3,827,498...3,834,210
JBrowse link
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 NCBI chr 3:2,726,705...2,731,213
Ensembl chr 3:2,727,254...2,731,212
JBrowse link
G Fut7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:2,637,281...2,646,497
Ensembl chr 3:2,642,531...2,646,648
JBrowse link
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 NCBI chr 3:3,843,307...3,856,154
Ensembl chr 3:3,843,307...3,855,981
JBrowse link
G Lcn10 lipocalin 10 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:2,894,702...2,898,255
Ensembl chr 3:2,894,702...2,898,254
JBrowse link
G Lcn12 lipocalin 12 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:2,716,547...2,719,135
Ensembl chr 3:2,716,534...2,719,513
JBrowse link
G Lcn6 lipocalin 6 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:2,888,103...2,893,498
Ensembl chr 3:2,888,103...2,893,495
JBrowse link
G Lcn8 lipocalin 8 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:2,871,890...2,875,682
Ensembl chr 3:2,872,031...2,875,015
JBrowse link
G Mamdc4 MAM domain containing 4 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:2,786,523...2,795,109
Ensembl chr 3:2,786,523...2,795,109
JBrowse link
G Man1b1 mannosidase, alpha, class 1B, member 1 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:2,547,259...2,569,051
Ensembl chr 3:2,547,986...2,569,049
JBrowse link
G Mir126b microRNA 126b ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:4,042,488...4,042,560 JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
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 NCBI chr 3:2,624,231...2,630,672
Ensembl chr 3:2,625,015...2,630,670
JBrowse link
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 NCBI chr 3:2,678,987...2,681,668
Ensembl chr 3:2,678,956...2,680,622
JBrowse link
G Phpt1 phosphohistidine phosphatase 1 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:2,797,037...2,798,436
Ensembl chr 3:2,796,997...2,798,470
JBrowse link
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 NCBI chr 3:3,834,262...3,842,061
Ensembl chr 3:3,834,078...3,842,078
JBrowse link
G Ptgds prostaglandin D2 synthase ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:2,686,125...2,689,059
Ensembl chr 3:2,686,123...2,689,084
JBrowse link
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 NCBI chr 3:2,806,777...2,832,697
Ensembl chr 3:2,806,777...2,832,697
JBrowse link
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 NCBI chr 3:2,590,355...2,597,283
Ensembl chr 3:2,591,331...2,596,583
JBrowse link
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 NCBI chr 3:3,856,218...3,890,785
Ensembl chr 3:3,856,218...3,890,758
JBrowse link
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 NCBI chr 3:3,808,596...3,827,425
Ensembl chr 3:3,809,407...3,824,284
JBrowse link
G Tmem141 transmembrane protein 141 ISO ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 NCBI chr 3:2,843,635...2,845,593
Ensembl chr 3:2,843,635...2,845,593
JBrowse link
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 NCBI chr 3:2,746,061...2,770,690
Ensembl chr 3:2,746,075...2,770,620
JBrowse link
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 NCBI chr 3:2,579,250...2,584,523
Ensembl chr 3:2,579,258...2,584,523
JBrowse link
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 ClinVar Annotator: match by term: Familial chronic mucocutaneous candidiasis OMIM
ClinVar
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868 NCBI chr 4:163,216,152...163,227,367
Ensembl chr 4:163,216,163...163,227,334
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 ClinVar Annotator: match by term: Candidiasis, familial, 6
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:21350122 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 9:26,885,702...26,897,219
Ensembl chr 9:26,885,708...26,897,219
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 ClinVar Annotator: match by term: Candidiasis, familial, 8
ClinVar Annotator: match by OMIM:615527
OMIM
ClinVar
PMID:22513239 PMID:24120361 PMID:25741868 PMID:28492532 NCBI chr20:44,679,861...44,722,874
Ensembl chr20:44,680,449...44,722,872
JBrowse link
Candidiasis, Familial, 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il17rc interleukin 17 receptor C ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:25918342 PMID:28492532 NCBI chr 4:145,426,647...145,439,845
Ensembl chr 4:145,427,367...145,439,843
JBrowse link
G Il17re interleukin 17 receptor E ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr 4:145,413,157...145,426,608
Ensembl chr 4:145,413,230...145,426,603
JBrowse link
G Jagn1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr 4:145,399,885...145,404,605
Ensembl chr 4:145,399,913...145,404,617
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 chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
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 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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
CTD Direct Evidence: marker/mechanism
DNA:nonsense,missense mutations:exons:35C>T, 98G>A,(p.Q3X,G24R)(human)
DNA:mutations:multiple (human)
ClinVar
CTD
PMID:1763037 PMID:2243141 PMID:10759707 PMID:10910929 PMID:19292887 PMID:20167518 PMID:25741868 PMID:28492532 PMID:29454792, PMID:1415254, PMID:10759707, PMID:2243141 RGD:1600791, RGD:11040541, RGD:734861 NCBI chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876
JBrowse link
G Cybb cytochrome b-245 beta chain ISO DNA:point mutations:promoter
ClinVar Annotator: match by term: Chronic granulomatous disease
CTD Direct Evidence: marker/mechanism|therapeutic
DNA:mutations:promoter:
ClinVar
CTD
PMID:8634410 PMID:11045425 PMID:11122248 PMID:11498749 PMID:17293536 PMID:20729109 PMID:21278736 PMID:28492532 PMID:29560547, PMID:8083361, PMID:11122248 RGD:1599664, RGD:11040566 NCBI chr  X:14,578,330...14,610,049
Ensembl chr  X:14,578,264...14,612,547
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:4125296 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Ifng interferon gamma ISO RGD PMID:22883043 RGD:6893353 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO
ISS
autosomal recessive cytochrome b-positive CGC type I, OMIM:233700, DNA:splice-site mutation:75delGT
OMIM:138990 | OMIM:233690 | OMIM:233700 | OMIM:233710 | OMIM:306400 | OMIM:613960
MouseDO PMID:7678602, PMID:2393022 RGD:1600562, RGD:1624401 NCBI chr12:25,497,104...25,506,300
Ensembl chr12:25,497,104...25,506,300
JBrowse link
G Ncf2 neutrophil cytosolic factor 2 ISO ClinVar Annotator: match by term: Chronic granulomatous disease ClinVar PMID:2393022 RGD:1624401 NCBI chr13:70,226,441...70,259,019
Ensembl chr13:70,226,647...70,257,576
JBrowse link
G Ncf4 neutrophil cytosolic factor 4 ISO ClinVar Annotator: match by term: Granulomatous Disease, Chronic
ClinVar Annotator: match by term: Chronic granulomatous disease
ClinVar PMID:19692703 PMID:29969437 NCBI chr 7:119,481,711...119,499,426
Ensembl chr 7:119,482,272...119,499,425
JBrowse link
G Tlr5 toll-like receptor 5 ISO protein:decreased expression:blood, neutrophil (human) RGD PMID:18155283 RGD:5130865 NCBI chr13:101,364,784...101,385,764
Ensembl chr13:101,381,510...101,385,764
JBrowse link
G Tlr9 toll-like receptor 9 ISO protein:decreased expression:blood, neutrophil (human) RGD PMID:18155283 RGD:5130865 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
chronic mucocutaneous candidiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Card9 caspase recruitment domain family, member 9 ISS OMIM:114580 | OMIM:212050 | OMIM:607644 | OMIM:613108 | OMIM:613953 | OMIM:613956 | OMIM:614162 | OMIM:615527 | OMIM:616445 MouseDO NCBI chr 3:3,798,346...3,806,841
Ensembl chr 3:3,798,347...3,806,713
JBrowse link
G Clec7a C-type lectin domain containing 7A ISS OMIM:114580 | OMIM:212050 | OMIM:607644 | OMIM:613108 | OMIM:613953 | OMIM:613956 | OMIM:614162 | OMIM:615527 | OMIM:616445 MouseDO NCBI chr 4:163,216,152...163,227,367
Ensembl chr 4:163,216,163...163,227,334
JBrowse link
G Il17f interleukin 17F ISS OMIM:114580 | OMIM:212050 | OMIM:607644 | OMIM:613108 | OMIM:613953 | OMIM:613956 | OMIM:614162 | OMIM:615527 | OMIM:616445 MouseDO NCBI chr 9:26,885,702...26,897,219
Ensembl chr 9:26,885,708...26,897,219
JBrowse link
G Il17ra interleukin 17 receptor A ISO ClinVar Annotator: match by term: Familial Candidiasis, Recessive ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:152,995,865...153,018,394
Ensembl chr 4:152,995,865...153,018,394
JBrowse link
G Il17rc interleukin 17 receptor C ISS OMIM:114580 | OMIM:212050 | OMIM:607644 | OMIM:613108 | OMIM:613953 | OMIM:613956 | OMIM:614162 | OMIM:615527 | OMIM:616445 MouseDO NCBI chr 4:145,426,647...145,439,845
Ensembl chr 4:145,427,367...145,439,843
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 PMID:24343863 PMID:25741868 PMID:26255980 PMID:26494717 PMID:26604104 PMID:28161409 PMID:28427548 PMID:28492532 PMID:28815025 NCBI chr 9:54,287,540...54,327,958
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Traf3ip2 Traf3 interacting protein 2 ISS OMIM:114580 | OMIM:212050 | OMIM:607644 | OMIM:613108 | OMIM:613953 | OMIM:613956 | OMIM:614162 | OMIM:615527 | OMIM:616445 MouseDO NCBI chr20:44,679,861...44,722,874
Ensembl chr20:44,680,449...44,722,872
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 3:91,086,186...91,195,981
Ensembl chr 3:91,086,186...91,195,981
JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas
ClinVar Annotator: match by OMIM:233650
OMIM
ClinVar
PMID:2682973 PMID:8810255 PMID:9630231 PMID:10701853 PMID:10891452 PMID:11133745 PMID:11213808 PMID:11313270 PMID:11520796 PMID:11908269 PMID:11971977 PMID:12200379 PMID:14670978 PMID:15908971 PMID:16211094 PMID:16276422 PMID:16960852 PMID:17075247 PMID:17476359 PMID:17572155 PMID:17890453 PMID:18056378 PMID:18442948 PMID:18463379 PMID:18592361 PMID:18701881 PMID:18768869 PMID:18822103 PMID:19064334 PMID:19246248 PMID:19458910 PMID:19830075 PMID:19912631 PMID:20109747 PMID:20489056 PMID:20956421 PMID:21131235 PMID:21184155 PMID:21502542 PMID:21624848 PMID:21664875 PMID:21771083 PMID:22424479 PMID:23085344 PMID:23122631 PMID:24122031 PMID:24144642 PMID:24290284 PMID:24331380 PMID:24406074 PMID:24418478 PMID:24472623 PMID:24817258 PMID:24985406 PMID:25516070 PMID:25739914 PMID:25741868 PMID:25849362 PMID:25869295 PMID:25976673 PMID:26186701 PMID:26457731 PMID:26476733 PMID:26596586 PMID:26829731 PMID:27301863 PMID:27484032 PMID:27609655 PMID:27713031 PMID:28083621 PMID:28109013 PMID:28216420 PMID:28492532 PMID:28747913 PMID:28769923 PMID:28783691 PMID:28864286 PMID:29107076 PMID:30290665 PMID:30307608 PMID:30858051 PMID:32447396 NCBI chr 3:91,206,394...91,217,491
Ensembl chr 3:91,206,394...91,217,491
JBrowse link
G Rag2 recombination activating 2 ISO ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas
ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas
OMIM
ClinVar
PMID:2618670 PMID:8810255 PMID:10777560 PMID:10891502 PMID:11133745 PMID:11138625 PMID:11313270 PMID:12200379 PMID:15025726 PMID:16111638 PMID:16960852 PMID:17572155 PMID:18025461 PMID:18033247 PMID:18463379 PMID:18682256 PMID:19178939 PMID:19333736 PMID:19414857 PMID:20234091 PMID:20603253 PMID:21131235 PMID:21184155 PMID:21502542 PMID:21624848 PMID:21625022 PMID:21664875 PMID:22295088 PMID:22841008 PMID:23243423 PMID:23994475 PMID:24139496 PMID:24144642 PMID:24174341 PMID:24331380 PMID:24481607 PMID:24996264 PMID:25707801 PMID:25739914 PMID:25741868 PMID:25869295 PMID:26186701 PMID:26457731 PMID:26476733 PMID:26515615 PMID:26692406 PMID:26915675 PMID:26996199 PMID:28492532 PMID:28600779 PMID:28747913 PMID:28769923 PMID:29051008 PMID:29772310 PMID:30305145 PMID:30307608 PMID:30778343 PMID:31058115 PMID:31334206 PMID:31388879 NCBI chr 3:91,191,837...91,200,134
Ensembl chr 3:91,191,837...91,200,134
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 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20102417 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO RGD PMID:12874303 RGD:5688168 NCBI chr 8:132,996,646...133,002,201
Ensembl chr 8:132,996,649...133,002,201
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO mRNA:increased expression:foot, lymph node RGD PMID:12874303 RGD:5688168
G Ccr5 C-C motif chemokine receptor 5 no_association ISO DNA:frameshift mutation: :p.S185_T195del (rs333) (human) RGD PMID:23632983, PMID:17214851 RGD:8549764, RGD:8549765 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cd274 CD274 molecule ISO RGD PMID:16358363 RGD:41410801 NCBI chr 1:247,519,890...247,539,659
Ensembl chr 1:247,519,939...247,537,943
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO DNA:SNPs: :rs1061237, rs2586488 (human) RGD PMID:25562121 RGD:11041176 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Foxp3 forkhead box P3 ISO mRNA:increased expression:Peripheral blood mononuclear cell: RGD PMID:29205403 RGD:38455981 NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
JBrowse link
G Ifng interferon gamma treatment ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:8154019 PMID:9234779 PMID:20102417, PMID:27999013 RGD:40890273 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:Peripheral blood mononuclear cell:
CTD PMID:20102417, PMID:29205403 RGD:38455981 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il13 interleukin 13 treatment ISO RGD PMID:12739821, PMID:18924210 RGD:8549536, RGD:8549561 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Il17a interleukin 17A ISO mRNA:increased expression:Peripheral blood mononuclear cell: RGD PMID:29205403 RGD:38455981 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20102417 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il23a interleukin 23 subunit alpha ISO RGD PMID:29078003 RGD:39457938 NCBI chr 7:2,710,609...2,712,723
Ensembl chr 7:2,710,609...2,712,723
JBrowse link
G Il4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20102417 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Klrk1 killer cell lectin like receptor K1 treatment ISO associated with lymphocytic choriomeningitis RGD PMID:26290604 RGD:39128165 NCBI chr 4:163,392,652...163,403,735
Ensembl chr 4:163,393,217...163,403,653
JBrowse link
G Lta lymphotoxin alpha no_association ISO DNA:SNP:intron:252A>G (human) RGD PMID:16950634 RGD:8548800 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G Ltb lymphotoxin beta ISO RGD PMID:17911622 RGD:8548820 NCBI chr20:5,184,631...5,186,476
Ensembl chr20:5,184,515...5,186,503
Ensembl chr20:5,184,515...5,186,503
JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:21091666, PMID:21091666 RGD:8657030 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Pdcd1lg2 programmed cell death 1 ligand 2 ISO RGD PMID:16358363 RGD:41410801 NCBI chr 1:247,562,202...247,629,279
Ensembl chr 1:247,562,202...247,627,193
JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta treatment ISO RGD PMID:27999013 RGD:40890273 NCBI chr 5:166,602,053...166,628,028
Ensembl chr 5:166,602,053...166,628,028
JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO DNA:insertion/deletion (human) RGD PMID:20089160 RGD:5684930 NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
JBrowse link
G Sod1 superoxide dismutase 1 ISO protein:increased activity:erythrocyte: RGD PMID:9892499 RGD:9479188 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO RGD PMID:10458767 RGD:8661703 NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Tlr2 toll-like receptor 2 ISO protein:decreased expression:skin: RGD PMID:20493664 RGD:7794748 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr4 toll-like receptor 4 ISO protein:decreased expression:skin: RGD PMID:20493664 RGD:7794748 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tlr9 toll-like receptor 9 ISO protein:decreased expression:skin: RGD PMID:20493664 RGD:7794748 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
G Tnf tumor necrosis factor no_association ISO DNA:SNP:promoter:-308G>A (rs1800629) (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:20102417, PMID:16950634 RGD:8548800 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
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 chr16:72,216,326...72,228,098
Ensembl chr16:72,216,326...72,228,098
JBrowse link
G Ifng interferon gamma susceptibility ISO mRNA,protein:decreased expression:peripheral mononuclear cell:
DNA:haplotype::
RGD PMID:21458658, PMID:21458658 RGD:6480259, RGD:6480259 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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 PMID:25741868 PMID:28492532 NCBI chr10:106,766,857...106,783,004 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 PMID:17576681 PMID:22158547 PMID:25741868 PMID:28492532 NCBI chr10:106,784,819...106,795,307
Ensembl chr10:106,785,077...106,795,299
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 ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 ClinVar
OMIM
PMID:9536098 PMID:12426567 PMID:15042430 PMID:17139267 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr10:106,766,857...106,783,004 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 chr10:106,784,819...106,795,307
Ensembl chr10:106,785,077...106,795,299
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 ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS 2
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2
ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2
ClinVar
OMIM
PMID:10084299 PMID:12426567 PMID:22158547 PMID:25741868 PMID:28492532 PMID:28646613 NCBI chr10:106,784,819...106,795,307
Ensembl chr10:106,785,077...106,795,299
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 ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3 ClinVar
OMIM
PMID:228581 PMID:19702156 PMID:20982046 PMID:21196704 PMID:28646613 PMID:30068544 NCBI chr 1:142,014,962...142,020,461
Ensembl chr 1:142,014,958...142,020,525
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 ClinVar
OMIM
PMID:22850876 NCBI chr14:43,961,756...43,992,587
Ensembl chr14:43,961,756...43,992,587
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 2:96,427,884...96,474,979
Ensembl chr 2:96,439,286...96,474,977
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 chr11:86,715,981...86,735,630
Ensembl chr11:86,715,981...86,735,622
JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA:increased expression:footpad: RGD PMID:21205004 RGD:7794752 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA:decreased expression:footpad: RGD PMID:21205004 RGD:7794752 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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 ClinVar Annotator: match by term: Familial acne inversa 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:142690
OMIM
ClinVar
CTD
PMID:20929727 PMID:21412258 PMID:22358060 PMID:25693063 PMID:25741868 NCBI chr13:90,451,046...90,467,256
Ensembl chr13:90,451,044...90,467,256
JBrowse link
G Psen1 presenilin 1 ISO ClinVar Annotator: match by term: Acne inversa, familial, 3
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:20929727 NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
JBrowse link
G Psenen presenilin enhancer gamma secretase subunit ISO ClinVar Annotator: match by term: Acne inversa, familial, 2
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:613736
OMIM
ClinVar
CTD
PMID:20929727 PMID:21412258 PMID:27900998 PMID:28287404 PMID:28601418 NCBI chr 1:89,016,093...89,017,449
Ensembl chr 1:89,016,096...89,017,290
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 chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Ifnar1 interferon alpha and beta receptor subunit 1 exacerbates ISO RGD PMID:28264883 RGD:125093738 NCBI chr11:31,640,407...31,666,839
Ensembl chr11:31,640,407...31,664,061
JBrowse link
G Ifng interferon gamma ISO protein:increased expression:vaginal secretion: RGD PMID:10366565 RGD:8158034 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il21 interleukin 21 treatment ISO RGD PMID:24358128 RGD:127285365 NCBI chr 2:123,965,021...123,972,356
Ensembl chr 2:123,965,021...123,972,356
JBrowse link
G Il3 interleukin 3 ISO RNA: increased expression RGD PMID:21175248 RGD:5686876 NCBI chr10:39,620,535...39,622,973
Ensembl chr10:39,620,563...39,622,973
JBrowse link
G Irf9 interferon regulatory factor 9 exacerbates ISO RGD PMID:28264883 RGD:125093738 NCBI chr15:34,282,936...34,288,981
Ensembl chr15:34,282,936...34,288,138
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 ameliorates ISO RGD PMID:31555293 RGD:42722615 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
G Rnasel ribonuclease L severity ISO RGD PMID:17157346 RGD:40902623 NCBI chr13:71,188,712...71,202,636
Ensembl chr13:71,192,142...71,202,625
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, PMID:22718836 RGD:8661697, RGD:8661697 NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
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 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G C3 complement C3 ISO RGD PMID:11509581 RGD:7401276 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO mRNA:increased expression:cornea (mouse) RGD PMID:9544579 RGD:8549472 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Cd274 CD274 molecule ISO RGD PMID:29669784 RGD:41412169 NCBI chr 1:247,519,890...247,539,659
Ensembl chr 1:247,519,939...247,537,943
JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:11134274 RGD:8547770 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cd8a CD8a molecule ISO mRNA:increased expression:trigeminal ganglion (mouse) RGD PMID:19151393 RGD:124715454 NCBI chr 4:99,217,640...99,243,352
Ensembl chr 4:99,239,115...99,243,351
JBrowse link
G Dock8 dedicator of cytokinesis 8 severity ISO RGD PMID:25776845 RGD:11055046 NCBI chr 1:242,934,685...243,153,472
Ensembl chr 1:242,959,488...243,153,465
JBrowse link
G Igf2bp1 insulin-like growth factor 2 mRNA binding protein 1 ISO RGD PMID:30050136 RGD:40902865 NCBI chr10:83,774,178...83,823,323
Ensembl chr10:83,780,203...83,822,996
JBrowse link
G Il18 interleukin 18 treatment ISO RGD PMID:9971824 RGD:8655923 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il21 interleukin 21 treatment ISO mRNA:increased expression:spleen (mouse) RGD PMID:19233474, PMID:16406655 RGD:127285367, RGD:127285372 NCBI chr 2:123,965,021...123,972,356
Ensembl chr 2:123,965,021...123,972,356
JBrowse link
G Il33 interleukin 33 ISO protein:increased expression:skin RGD PMID:26872602, PMID:26872602 RGD:39939003, RGD:39939003 NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
JBrowse link
G Irf5 interferon regulatory factor 5 susceptibility ISO associated with multiple sclerosis;DNA:SNP: :rs3807306 (human) RGD PMID:20861862 RGD:40924643 NCBI chr 4:56,804,477...56,816,271
Ensembl chr 4:56,805,132...56,820,543
JBrowse link
G Mbl1 mannose binding lectin 1 ISO protein:increased expression:serum: RGD PMID:15498041 RGD:8693727 NCBI chr16:18,736,154...18,742,193
Ensembl chr16:18,736,154...18,742,193
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility
disease_progression
ISO DNA:polymorphism:cds: RGD PMID:19480845, PMID:15498041, PMID:15498041 RGD:8693725, RGD:8693727, RGD:8693727 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Nectin1 nectin cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10729168 NCBI chr 8:48,094,233...48,198,499
Ensembl chr 8:48,094,673...48,157,305
JBrowse link
G Nectin2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10729168 PMID:11602758 PMID:30319691 NCBI chr 1:80,631,449...80,666,617
Ensembl chr 1:80,631,450...80,666,585
JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 exacerbates ISO RGD PMID:30050136, PMID:25316792 RGD:40902865, RGD:127229943 NCBI chr15:34,470,796...34,479,741
Ensembl chr15:34,470,796...34,479,741
JBrowse link
G Rpl30 ribosomal protein L30 ISO protein:increased serine phosphorylation:ribosome RGD PMID:7588575 RGD:11039399 NCBI chr 7:73,213,538...73,216,431
Ensembl chr 7:73,213,581...73,216,251
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 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Aqp4 aquaporin 4 ISO RGD PMID:17454447 RGD:8698664 NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
JBrowse link
G Calca calcitonin-related polypeptide alpha treatment IDA RGD PMID:22761571 RGD:7240516 NCBI chr 1:184,184,018...184,188,922
Ensembl chr 1:184,184,020...184,188,911
JBrowse link
G Calcr calcitonin receptor treatment IDA RGD PMID:22761571 RGD:7240516 NCBI chr 4:28,627,439...28,702,559
Ensembl chr 4:28,627,442...28,702,559
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO RGD PMID:22377584 RGD:8661752
G Ccr5 C-C motif chemokine receptor 5 ISO RGD PMID:23391218 RGD:8551839 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO RGD PMID:22377584 RGD:8661752 NCBI chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO mRNA:increased expression:brain: RGD PMID:15950786 RGD:8657070 NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 severity ISO RGD PMID:26872602 RGD:39939003 NCBI chr 9:47,133,483...47,184,316
Ensembl chr 9:47,134,034...47,182,170
JBrowse link
G Irf3 interferon regulatory factor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:100,992,244...100,997,202
Ensembl chr 1:100,992,405...100,997,198
JBrowse link
G Lta lymphotoxin alpha ISO RGD PMID:11145686 RGD:8548806 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased activity:brain RGD PMID:15364410 RGD:8547868 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO protein:increased activity:brain RGD PMID:20483026, PMID:15364410 RGD:8547867, RGD:8547868 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Stat4 signal transducer and activator of transcription 4 susceptibility ISO RGD PMID:17266445 RGD:8661706 NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Ticam1 toll-like receptor adaptor molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:10,780,185...10,790,280 JBrowse link
G Tlr2 toll-like receptor 2 disease_progression ISO
IEP
RGD PMID:14739339, PMID:20806060 RGD:8553026, RGD:5130178 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr3 toll-like receptor 3 susceptibility ISO ClinVar Annotator: match by term: HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 2
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:17872438 PMID:19625408 PMID:20472559 PMID:20855885 PMID:21911422 PMID:22174453 PMID:24033266 PMID:25339207 PMID:26513235 PMID:28046022 PMID:28492532 PMID:29305044 NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
JBrowse link
G Tlr4 toll-like receptor 4 IEP RGD PMID:20806060 RGD:5130178 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tlr9 toll-like receptor 9 resistance IEP mRNA:increased expression:cheek (rat) RGD PMID:20806060 RGD:5130178 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
G Traf3 Tnf receptor-associated factor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:135,610,698...135,720,247
Ensembl chr 6:135,610,743...135,718,564
JBrowse link
G Unc93b1 unc-93 homolog B1, TLR signaling regulator ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:219,172,987...219,183,941
Ensembl chr 1:219,144,205...219,183,963
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 PMID:20472559 PMID:20855885 PMID:21911422 PMID:24033266 PMID:25339207 PMID:26193622 PMID:26513235 PMID:28046022 PMID:28492532 PMID:29217828 PMID:29305044 PMID:31268141 NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
JBrowse link
G Unc93b1 unc-93 homolog B1, TLR signaling regulator susceptibility ISO ClinVar Annotator: match by term: Herpes simplex encephalitis 1 ClinVar
OMIM
PMID:9536098 PMID:16973841 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:219,172,987...219,183,941
Ensembl chr 1:219,144,205...219,183,963
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 NCBI chr 6:135,724,455...135,731,896
Ensembl chr 6:135,724,455...135,731,896
JBrowse link
G Traf3 Tnf receptor-associated factor 3 susceptibility ISO ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:28492532 PMID:31681265 NCBI chr 6:135,610,698...135,720,247
Ensembl chr 6:135,610,743...135,718,564
JBrowse link
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 ClinVar
OMIM
PMID:22105173 PMID:25741868 PMID:26513235 PMID:28492532 NCBI chr 9:10,780,185...10,790,280 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 1:100,992,244...100,997,202
Ensembl chr 1:100,992,405...100,997,198
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 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Atm ATM serine/threonine kinase ameliorates ISO RGD PMID:24370835 RGD:126781690 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 severity ISO associated with Herpes Simplex, Type 1 RGD PMID:16997857 RGD:8548890 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccl20 C-C motif chemokine ligand 20 ISO RGD PMID:15287366 RGD:7483593 NCBI chr 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO RGD PMID:18798077, PMID:16476970 RGD:8551819, RGD:8551837 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Ccr6 C-C motif chemokine receptor 6 ISO RGD PMID:15287366 RGD:7483593 NCBI chr 1:53,063,380...53,087,519
Ensembl chr 1:53,065,025...53,087,474
JBrowse link
G Cd274 CD274 molecule ISO RGD PMID:16253242 RGD:41410794 NCBI chr 1:247,519,890...247,539,659
Ensembl chr 1:247,519,939...247,537,943
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO RGD PMID:18798077 RGD:8551819 NCBI chr  X:71,614,346...71,616,997
Ensembl chr  X:71,614,346...71,616,997
JBrowse link
G Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 treatment ISO RGD PMID:15670795 RGD:40902819 NCBI chr 6:1,428,845...1,466,193
Ensembl chr 6:1,428,834...1,466,201
JBrowse link
G Ifnb1 interferon beta 1 treatment ISO RGD PMID:15670795 RGD:40902819 NCBI chr 5:106,865,192...106,865,746
Ensembl chr 5:106,865,192...106,865,746
JBrowse link
G Ifng interferon gamma ISO RGD PMID:12162877 RGD:8157603 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:22467659 RGD:7364834 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il1b interleukin 1 beta ISO mRNA:increased expression:cornea RGD PMID:10624423 RGD:7401196 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rn interleukin 1 receptor antagonist treatment ISO human protein in a mouse model RGD PMID:15258192 RGD:8549793 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il21 interleukin 21 treatment ISO RGD PMID:29370719 RGD:127285376 NCBI chr 2:123,965,021...123,972,356
Ensembl chr 2:123,965,021...123,972,356
JBrowse link
G Il23a interleukin 23 subunit alpha ISO mRNA;increased expression:trigeminal ganglion (mouse) RGD PMID:12162874 RGD:39457946 NCBI chr 7:2,710,609...2,712,723
Ensembl chr 7:2,710,609...2,712,723
JBrowse link
G Kdr kinase insert domain receptor treatment ISO protein:increased expression:cornea: RGD PMID:16951377, PMID:16951377 RGD:8549742, RGD:8549742 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Rnasel ribonuclease L treatment ISO RGD PMID:15670795 RGD:40902819 NCBI chr13:71,188,712...71,202,636
Ensembl chr13:71,192,142...71,202,625
JBrowse link
G Stat4 signal transducer and activator of transcription 4 susceptibility ISO RGD PMID:17266445 RGD:8661706 NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Tlr2 toll-like receptor 2 ISO RGD PMID:17686871 RGD:7794851 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA:increased expression:cornea: RGD PMID:17686871, PMID:17667620 RGD:7794851, RGD:8552970 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tlr9 toll-like receptor 9 ISO RGD PMID:17686871 RGD:7794851 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
G Tnf tumor necrosis factor ISO mRNA:increased expression:cornea RGD PMID:10624423, PMID:12162877 RGD:7401196, RGD:8157603 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
hidradenitis suppurativa 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 chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
JBrowse link
G Il17d interleukin 17D sexual_dimorphism ISO mRNA:increased expression:apocrine��gland (human) RGD PMID:32031713 RGD:40903066 NCBI chr15:37,790,211...37,807,653
Ensembl chr15:37,790,141...37,807,660
JBrowse link
G Lcn2 lipocalin 2 disease_progression ISO RGD PMID:28256718 RGD:126781708 NCBI chr 3:11,414,189...11,417,534
Ensembl chr 3:11,414,186...11,417,546
JBrowse link
G Mefv MEFV innate immuity regulator, pyrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr10:12,045,813...12,056,229
Ensembl chr10:12,046,541...12,056,311
JBrowse link
G Ncstn nicastrin ISS OMIM:142690 | OMIM:613736 | OMIM:613737 MouseDO NCBI chr13:90,451,046...90,467,256
Ensembl chr13:90,451,044...90,467,256
JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr10:45,884,324...45,918,290
Ensembl chr10:45,893,018...45,918,254
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
JBrowse link
G Psen1 presenilin 1 ISS OMIM:142690 | OMIM:613736 | OMIM:613737 MouseDO NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
JBrowse link
G Psenen presenilin enhancer gamma secretase subunit ISS OMIM:142690 | OMIM:613736 | OMIM:613737 MouseDO NCBI chr 1:89,016,093...89,017,449
Ensembl chr 1:89,016,096...89,017,290
JBrowse link
G Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr 8:60,760,040...60,799,364
Ensembl chr 8:60,760,078...60,799,361
JBrowse link
G Tnf tumor necrosis factor ISO DNA:polymorphism,haplotype:promoter:-238G>A(human) RGD PMID:23106544 RGD:7777155 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
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 1:196,996,405...197,024,185
Ensembl chr 1:196,996,581...197,024,166
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO ClinVar Annotator: match by term: Immunodeficiency 31C
ClinVar Annotator: match by term: Candidiasis, familial, 7
ClinVar Annotator: match by OMIM:614162
OMIM
ClinVar
PMID:21714643 PMID:21727188 PMID:22195034 PMID:22730530 PMID:22847544 PMID:23245795 PMID:23534974 PMID:23541320 PMID:23709754 PMID:24033266 PMID:24239102 PMID:24343863 PMID:25042743 PMID:25288569 PMID:25326637 PMID:25367169 PMID:25741868 PMID:26242301 PMID:26255980 PMID:26494717 PMID:26604104 PMID:26743090 PMID:27114460 PMID:27379765 PMID:27577878 PMID:28011069 PMID:28161409 PMID:28258222 PMID:28427548 PMID:28492532 PMID:28597685 PMID:28622416 PMID:28815025 PMID:30317461 PMID:30442829 NCBI chr 9:54,287,540...54,327,958
Ensembl chr 9:54,287,541...54,484,533
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 ClinVar Annotator: match by term: Immunodeficiency 51
ClinVar Annotator: match by OMIM:613953
OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21350122 PMID:24033266 PMID:25741868 PMID:26871944 PMID:27930337 PMID:28492532 NCBI chr 4:152,995,865...153,018,394
Ensembl chr 4:152,995,865...153,018,394
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 chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 severity ISO RGD PMID:11160230 RGD:11528533 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccl20 C-C motif chemokine ligand 20 ISO protein:increased expression:lung RGD PMID:20926800 RGD:7483599 NCBI chr 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
JBrowse link
G Ccr6 C-C motif chemokine receptor 6 disease_progression ISO RGD PMID:17379855 RGD:7483617 NCBI chr 1:53,063,380...53,087,519
Ensembl chr 1:53,065,025...53,087,474
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO RGD PMID:17298426 RGD:5135501 NCBI chr  X:71,614,346...71,616,997
Ensembl chr  X:71,614,346...71,616,997
JBrowse link
G Cybb cytochrome b-245 beta chain ISO RGD PMID:24054721 RGD:10450528 NCBI chr  X:14,578,330...14,610,049
Ensembl chr  X:14,578,264...14,612,547
JBrowse link
G Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 treatment ISO DNA:polymorphisms:cds: RGD PMID:26861072 RGD:124713410 NCBI chr 1:147,713,879...147,814,410
Ensembl chr 1:147,713,892...147,888,007
JBrowse link
G Elane elastase, neutrophil expressed ISO RGD PMID:24054721 RGD:10450528 NCBI chr 7:12,638,320...12,640,168
Ensembl chr 7:12,638,322...12,640,232
JBrowse link
G Il17a interleukin 17A severity ISO RGD PMID:21807912 RGD:8698654 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Mbl2 mannose binding lectin 2 ISO DNA:SNP:exon:rs5030737(human) RGD PMID:17311505 RGD:8693758 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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:30275011, PMID:28487045 RGD:38501097, RGD:38508892 NCBI chr 2:158,097,843...158,103,653
Ensembl chr 2:158,097,843...158,103,653
JBrowse link
G S100b S100 calcium binding protein B ISO RGD PMID:21423669 RGD:5508765 NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
JBrowse link
G Tlr2 toll-like receptor 2 ISO RGD PMID:16113258 RGD:8553022 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr4 toll-like receptor 4 susceptibility ISO DNA:polymorphism:exon:p.D299G(human) RGD PMID:18275280 RGD:5130863 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
Invasive Pulmonary Aspergillosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 treatment IDA RGD PMID:12917249 RGD:11528529 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Cd209 CD209 molecule susceptibility ISO DNA:SNPs:3'utr,intron:multiple RGD PMID:22384201 RGD:39938996 NCBI chr12:2,406,879...2,413,324
Ensembl chr12:2,406,879...2,413,324
JBrowse link
G Fgf2 fibroblast growth factor 2 treatment ISO RGD PMID:23303813 RGD:8655596 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Il1a interleukin 1 alpha ISO DNA:polymorphism, haplotype:promoter:-889C>T (human) RGD PMID:18484169 RGD:4142867 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta ISO DNA:polymorphism, haplotype: :-511C>T (human) RGD PMID:18484169 RGD:4142867 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Itih4 inter-alpha-trypsin inhibitor heavy chain 4 IEP protein:increased expression:respiratory system fluid/secretion, serum RGD PMID:24360996 RGD:40903005 NCBI chr16:6,970,367...6,985,538
Ensembl chr16:6,970,342...6,985,579
JBrowse link
G Mbl2 mannose binding lectin 2 treatment ISO RGD PMID:17335555 RGD:8693746 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Ptx3 pentraxin 3 susceptibility
no_association
ISO DNA:SNP:intron:rs1840680 (human)
protein:increased expression:bronchoalveolar lavage fluid, plasma (human)
protein:increased expression:plasma
DNA:SNP, missense mutation:intron, cds:rs2305619, rs3816527
RGD PMID:29020397, PMID:29964232, PMID:29020397, PMID:29020397 RGD:38501098, RGD:38508894, RGD:38501098, RGD:38501098 NCBI chr 2:158,097,843...158,103,653
Ensembl chr 2:158,097,843...158,103,653
JBrowse link
G Vegfa vascular endothelial growth factor A treatment ISO RGD PMID:23303813 RGD:8655596 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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 chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Arg1 arginase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21232540 NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863
JBrowse link
G Btk Bruton tyrosine kinase susceptibility ISO RGD PMID:28783468 RGD:124715477 NCBI chr  X:105,360,922...105,390,580
Ensembl chr  X:105,360,922...105,390,580
JBrowse link
G C3 complement C3 ISO RGD PMID:15378355 RGD:7401274 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO RGD PMID:10899907 RGD:8661227
G Ccr5 C-C motif chemokine 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 chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Crp C-reactive protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:17218153 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Dusp1 dual specificity phosphatase 1 treatment ISO RGD PMID:21471446 RGD:7771536 NCBI chr10:16,970,642...16,973,425
Ensembl chr10:16,970,626...16,973,418
JBrowse link
G Dusp6 dual specificity phosphatase 6 treatment ISO RGD PMID:21471446 RGD:7771536 NCBI chr 7:41,475,163...41,479,393
Ensembl chr 7:41,475,163...41,479,392
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16540374 PMID:17218153, PMID:2145107 RGD:7829781 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16540374 PMID:20404924 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il18 interleukin 18 treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:16879623, PMID:10768930 RGD:8655909 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:6224858 RGD:8693326 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il27 interleukin 27 exacerbates ISO RGD PMID:25466588 RGD:126790552 NCBI chr 1:198,003,615...198,010,112
Ensembl chr 1:198,003,683...198,008,893
JBrowse link
G Il4 interleukin 4 treatment ISO protein:increased expression:serum RGD PMID:2145107, PMID:2521244 RGD:7829781, RGD:7829820 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16540374 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Mcl1 MCL1 apoptosis regulator, BCL2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:26670606 NCBI chr 2:197,786,212...197,788,992 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 chr10:63,153,656...63,188,377
Ensembl chr10:63,153,651...63,176,463
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16540374 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20139272 NCBI chr 5:173,459,371...173,463,980
Ensembl chr 5:173,460,354...173,463,140
JBrowse link
G Tnfsf4 TNF superfamily member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10637281 NCBI chr13:79,269,973...79,293,775
Ensembl chr13:79,269,973...79,293,778
JBrowse link
G Trem1 triggering receptor expressed on myeloid cells 1 severity ISO RGD PMID:24453980 RGD:126925972 NCBI chr 9:14,727,887...14,743,371
Ensembl chr 9:14,727,976...14,809,447
JBrowse link
G Vdr vitamin D receptor ISO RGD PMID:17551101 RGD:8158083 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Lta lymphotoxin alpha ISO DNA:polymorphism:intron RGD PMID:7595196 RGD:8548799 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G Tnf tumor necrosis factor ISO DNA:SNP:promoter:-308G>A (human) RGD PMID:7595196 RGD:8548799 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
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 ClinVar Annotator: match by term: MUCOCUTANEOUS ULCERATION, CHRONIC ClinVar
OMIM
PMID:28600438 NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
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 chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphisms: :HLA-DQA1*0401, HLA-DQA1*0102,HLA-DQA1*0103; RGD PMID:22117902 RGD:8547660 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Ha RT1 class II, locus Ha ISO RGD PMID:8854084 RGD:6480649 NCBI chr20:3,875,478...3,885,140
Ensembl chr20:3,875,706...3,881,461
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 9:46,962,291...47,038,139
Ensembl chr 9:46,962,288...47,036,670
JBrowse link
G Tlr4 toll-like receptor 4 ISO RGD PMID:11884755 RGD:7794682 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
paracoccidioidomycosis 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:18292527 RGD:4892087 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cd28 Cd28 molecule ISO RGD PMID:20713624 RGD:5131616 NCBI chr 9:67,546,408...67,573,858
Ensembl chr 9:67,546,408...67,571,871
JBrowse link
G Cfb complement factor B ISO RGD PMID:7921333 RGD:7421526 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO RGD PMID:17003484 RGD:8547589 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
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 chr16:72,216,326...72,228,098
Ensembl chr16:72,216,326...72,228,098
JBrowse link
G Il18 interleukin 18 treatment ISO RGD PMID:28992214 RGD:39938858 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1b interleukin 1 beta treatment ISO RGD PMID:28992214 RGD:39938858 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 treatment ISO RGD PMID:28992214 RGD:39938858 NCBI chr 9:47,133,483...47,184,316
Ensembl chr 9:47,134,034...47,182,170
JBrowse link
G Il33 interleukin 33 treatment ISO RGD PMID:28992214 RGD:39938858 NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:19765107 RGD:8657058 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:19765107 RGD:8657058 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 severity ISO DNA:polymorphism, haplotype:cds:HLA-DRB1*11 (human) RGD PMID:17325942 RGD:5147631 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:SNP:promoter:−308G>A(human) RGD PMID:17145373 RGD:7401182 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
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 chr 2:158,097,843...158,103,653
Ensembl chr 2:158,097,843...158,103,653
JBrowse link
rhinoscleroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:haplotype: : RGD PMID:17321882 RGD:8547664 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:haplotype: : RGD PMID:17321882 RGD:8547664 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
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 chr 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
JBrowse link
G Clu clusterin ISO RGD PMID:11085517 RGD:8746700 NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
JBrowse link
G Fgf10 fibroblast growth factor 10 ISO protein:increased expression:skin (mouse) RGD PMID:24582960 RGD:126928134 NCBI chr 2:51,673,480...51,747,533
Ensembl chr 2:51,672,722...51,750,369
JBrowse link
G Mir21 microRNA 21 ameliorates ISO RGD PMID:21646541 RGD:41404663 NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301
JBrowse link
G Nrg1 neuregulin 1 ISO DNA:hypermethylation: RGD PMID:31892232 RGD:39456089 NCBI chr16:62,969,573...64,065,063
Ensembl chr16:63,837,216...64,057,434
JBrowse link
G Tlr2 toll-like receptor 2 ISO protein:increased expression,altered expression:cytoplasm,membrane, nucleus: RGD PMID:24617037 RGD:8553046 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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 chr10:39,109,530...39,116,532
Ensembl chr10:39,109,522...39,116,531
JBrowse link
G Mthfr methylenetetrahydrofolate reductase treatment ISO DNA:SNP:exon:rs1801133(human) RGD PMID:18454680 RGD:42722608 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
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 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il18 interleukin 18 treatment ISO RGD PMID:21536791 RGD:8655921 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il33 interleukin 33 treatment ISO mRNA,protein:increased expression:skin RGD PMID:23892028, PMID:23892028 RGD:40400893, RGD:40400893 NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 ameliorates ISO RGD PMID:27524612 RGD:127229915 NCBI chr15:34,470,796...34,479,741
Ensembl chr15:34,470,796...34,479,741
JBrowse link
G Serpinf1 serpin family F member 1 severity ISO RGD PMID:25515118 RGD:36174009 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
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 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il5 interleukin 5 severity ISO RGD PMID:9824515 RGD:11354934 NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
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 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
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 C-C motif chemokine ligand 11 ISO protein:increased expression:plasma, respiratory system fluid/secretion RGD PMID:16168564 RGD:7248410 NCBI chr10:69,434,965...69,439,566
Ensembl chr10:69,434,941...69,439,575
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 chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Olig2 oligodendrocyte transcription factor 2 ISO RGD PMID:25773181 RGD:40902825 NCBI chr11:31,389,514...31,392,890
Ensembl chr11:31,389,514...31,392,890
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 4:155,359,909...155,371,104
Ensembl chr 4:155,359,921...155,369,671
JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO protein:increased expression:serum RGD PMID:21991751 RGD:5683905 NCBI chr10:70,870,926...70,886,357
Ensembl chr10:70,884,531...70,886,355
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO associated with Malnutrition;mRNA:increased expression:lymph node,spleen: RGD PMID:24818662 RGD:8661728
G Ccr3 C-C motif chemokine receptor 3 ISO protein:increased expression:blood, T cell RGD PMID:15379987 RGD:6893393 NCBI chr 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 treatment ISO RGD PMID:24617012 RGD:14401738 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cd40 CD40 molecule treatment ISO RGD PMID:14573667 RGD:8547750 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:14573667 RGD:8547750 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Crp C-reactive protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:10467834 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Csf2 colony stimulating factor 2 treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:17404324, PMID:8035028 RGD:10449527 NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO mRNA:increased expression:liver RGD PMID:16239557 RGD:27095947 NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:22461696, PMID:23729024 RGD:42724459 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Ifng interferon gamma treatment ISO CTD Direct Evidence: therapeutic CTD PMID:1901333 PMID:7854095, PMID:3104456, PMID:27999013 RGD:8158041, RGD:40890273 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15716043 PMID:17404324 PMID:22461696, PMID:29745990 RGD:14975172 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il10ra interleukin 10 receptor subunit alpha ISO CTD Direct Evidence: therapeutic CTD PMID:15716043 NCBI chr 8:49,558,062...49,573,891
Ensembl chr 8:49,560,035...49,573,742
JBrowse link
G Il18 interleukin 18 susceptibility ISO RGD PMID:16879623 RGD:8655922 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17404324 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il27 interleukin 27 ISO mRNA, protein:increased expression:spleen, liver (mouse) RGD PMID:27245409 RGD:126790520 NCBI chr 1:198,003,615...198,010,112
Ensembl chr 1:198,003,683...198,008,893
JBrowse link
G Il2rb interleukin 2 receptor subunit beta susceptibility ISO DNA:polymorphisms:exon:8777, 8838(human) RGD PMID:17108990 RGD:42724466 NCBI chr 7:119,701,338...119,716,238
Ensembl chr 7:119,701,251...119,716,238
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7554475 PMID:17404324 PMID:22461696 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Irf5 interferon regulatory factor 5 ISO protein:increased expression:CD4 T cell, nucleus RGD PMID:32038622, PMID:30067973 RGD:40924560, RGD:40924629 NCBI chr 4:56,804,477...56,816,271
Ensembl chr 4:56,805,132...56,820,543
JBrowse link
G Lta lymphotoxin alpha severity ISO DNA:polymorphisms RGD PMID:12438370, PMID:15579454 RGD:8548784, RGD:8548789 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G Ltb lymphotoxin beta ISO RGD PMID:12115620 RGD:8548822 NCBI chr20:5,184,631...5,186,476
Ensembl chr20:5,184,515...5,186,503
Ensembl chr20:5,184,515...5,186,503
JBrowse link
G Mbl2 mannose binding lectin 2 disease_progression
susceptibility
ISO protein:increased expression:serum:
DNA:SNPs,haplotype:promoter,exon:
DNA:polymorphism:promoter:
RGD PMID:17357060, PMID:26297290, PMID:26297290, PMID:22995279, PMID:17357060 RGD:8693721, RGD:11522692, RGD:11522692, RGD:8693726, RGD:8693721 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Mir155 microRNA 155 ISO RGD PMID:31182615 RGD:21081525 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Mir21 microRNA 21 treatment ISO RGD PMID:31608064 RGD:40925951 NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 treatment ISO RGD PMID:23729024 RGD:42724459 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta treatment ISO RGD PMID:27999013 RGD:40890273 NCBI chr 5:166,602,053...166,628,028
Ensembl chr 5:166,602,053...166,628,028
JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291585 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291585 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321, PMID:17067929 RGD:5684944 NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO RGD PMID:24242758 RGD:8661696 NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Tlr2 toll-like receptor 2 disease_progression ISO RGD PMID:23589575 RGD:15090808 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tnf tumor necrosis factor severity ISO DNA:polymorphisms
CTD Direct Evidence: marker/mechanism
CTD PMID:1901333 PMID:22461696, PMID:12438370, PMID:15579454 RGD:8548784, RGD:8548789 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
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 DNA:frame shift, nonsense mutations:cds:1016_1017delCT,p.R334X,E343X(human)
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:193670
ClinVar
CTD
OMIM
PMID:12692554 PMID:15536153 PMID:16899028 PMID:18436740 PMID:19956569 PMID:23009155 PMID:23734232 PMID:23794067 PMID:25662009 PMID:25741868 PMID:28166811 PMID:28492532, PMID:12692554 RGD:734860 NCBI chr13:45,314,952...45,318,856
Ensembl chr13:45,314,933...45,318,878
JBrowse link
G Dars1 aspartyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr13:45,074,067...45,127,815
Ensembl chr13:45,074,072...45,127,815
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 chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876
JBrowse link
G Cybb cytochrome b-245 beta chain treatment ISO ClinVar Annotator: match by term: Chronic granulomatous disease, X-linked
ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked, variant
ClinVar Annotator: match by OMIM:306400
DNA:deletion:cds:
DNA:missense mutations:exons:1558T>C,937G>A,1271T>C,313C>T(human)
OMIM
ClinVar
PMID:1347621 PMID:1438069 PMID:1520880 PMID:1710153 PMID:1719419 PMID:2072910 PMID:2523713 PMID:2556453 PMID:2838754 PMID:3600768 PMID:8101486 PMID:8182143 PMID:8634410 PMID:8655140 PMID:8900212 PMID:8916969 PMID:8961628 PMID:9536098 PMID:9585602 PMID:9667376 PMID:9774399 PMID:9856476 PMID:10068684 PMID:10089913 PMID:10627478 PMID:10828042 PMID:10914676 PMID:10980575 PMID:11112388 PMID:11162142 PMID:11413138 PMID:11435314 PMID:11462241 PMID:11566256 PMID:11700292 PMID:11997083 PMID:12094329 PMID:12139950 PMID:12589359 PMID:14697745 PMID:15338276 PMID:15454837 PMID:16199547 PMID:17576681 PMID:18509647 PMID:18546332 PMID:18708296 PMID:19410294 PMID:19483051 PMID:20228266 PMID:20724480 PMID:20729109 PMID:21190454 PMID:21659519 PMID:22540226 PMID:22876374 PMID:22924696 PMID:22924737 PMID:22929960 PMID:23193493 PMID:23859418 PMID:23910690 PMID:23956436 PMID:24276928 PMID:24943880 PMID:24999735 PMID:25252997 PMID:25666294 PMID:25741868 PMID:26185101 PMID:26453586 PMID:27701760 PMID:27853979 PMID:27980538 PMID:28168067 PMID:28251166 PMID:28492532 PMID:29560547 PMID:29702544 PMID:30237823 PMID:30470980 PMID:30506560 PMID:30633606, PMID:12804147, PMID:7694872, PMID:10068684 RGD:11040567, RGD:11040562, RGD:11040560 NCBI chr  X:14,578,330...14,610,049
Ensembl chr  X:14,578,264...14,612,547
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:14,633,342...14,642,356
Ensembl chr  X:14,633,342...14,642,424
JBrowse link
G H2ap H2A.P histone ISO ClinVar Annotator: match by term: Chronic granulomatous disease, X-linked ClinVar PMID:22929960 PMID:27701760 PMID:28492532 NCBI chr  X:13,989,401...13,989,955
Ensembl chr  X:13,989,401...13,989,955
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:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069
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:14,271,012...14,331,745
Ensembl chr  X:14,271,017...14,331,486
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:14,146,618...14,220,756
Ensembl chr  X:14,150,038...14,220,662
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:13,857,669...14,109,592
Ensembl chr  X:14,019,961...14,109,568
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    sensory system disease 5584
      skin disease 2945
        Infectious Skin Diseases 251
          Bacterial Skin Diseases + 21
          Parasitic Skin Diseases + 68
          Viral Skin Diseases + 105
          cellulitis + 45
          dermatomycosis + 85
          paronychia 0
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 12074
        sensory system disease 5584
          skin disease 2945
            Infectious Skin Diseases 251
              Bacterial Skin Diseases + 21
              Parasitic Skin Diseases + 68
              Viral Skin Diseases + 105
              cellulitis + 45
              dermatomycosis + 85
              paronychia 0
paths to the root